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
SORCS2	57537	broad.mit.edu	37	4	7677859	7677859	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:7677859A>T	ENST00000507866.2	+	9	1353	c.1244A>T	c.(1243-1245)tAc>tTc	p.Y415F	SORCS2_ENST00000329016.9_Missense_Mutation_p.Y243F	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	415						integral to membrane	neuropeptide receptor activity	p.Y265F(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TACAACCTGTACCAGTCGGAC	0.637000													3	3					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41049236	41049236	+	Silent	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:41049236A>G	ENST00000399564.4	-	15	1959	c.1509T>C	c.(1507-1509)ctT>ctC	p.L503L	MROH2B_ENST00000506092.2_Silent_p.L58L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.L503L(1)									GTGGTGAAGGAAGTTTCACTA	0.418000													10	69					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390454	158390454	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158390454C>A	ENST00000314902.2	-	1	202	c.203G>T	c.(202-204)tGc>tTc	p.C68F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C68F(2)		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)					AATCTCAGAGCAAGAGAGGAT	0.488000													150	902					4.21061e-56	7.48401e-56	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20976235	20976235	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:20976235G>A	ENST00000261383.3	-	53	8970	c.8971C>T	c.(8971-8973)Cgc>Tgc	p.R2991C	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2991					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2991C(4)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTAGTATAGCGGATCCCCAGC	0.532000													167	101					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202436	56202436	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:56202436C>A	ENST00000361673.3	-	5	5196	c.4983G>T	c.(4981-4983)gaG>gaT	p.E1661D		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1661							ATP binding|protein serine/threonine kinase activity	p.E1022D(2)|p.E1661D(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTTCTCTAACTCACGTTCTC	0.498000													48	220					5.73332e-34	9.29135e-34	1	1	0
FRMD4A	55691	broad.mit.edu	37	10	13782541	13782541	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:13782541G>A	ENST00000357447.2	-	10	953	c.585C>T	c.(583-585)aaC>aaT	p.N195N	FRMD4A_ENST00000342409.2_Silent_p.N211N|RP11-353M9.1_ENST00000449462.1_RNA|FRMD4A_ENST00000378503.1_Silent_p.N195N|FRMD4A_ENST00000358621.4_Silent_p.N180N	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	195	FERM.					cytoplasm|cytoskeleton	binding	p.N195N(2)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TTGTCTGACCGTTCAGTTTCT	0.443000													61	186					0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197890725	197890725	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:197890725G>T	ENST00000367390.3	+	4	669	c.642G>T	c.(640-642)caG>caT	p.Q214H	LHX9_ENST00000367391.1_Missense_Mutation_p.Q214H|LHX9_ENST00000561173.1_Missense_Mutation_p.Q229H|LHX9_ENST00000367387.4_Missense_Mutation_p.Q223H|LHX9_ENST00000337020.2_Missense_Mutation_p.Q223H	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	223					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.Q223H(2)|p.Q214H(2)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCACCGTGCAGAAAGGGCGGC	0.652000													8	14					4.68919e-08	5.31634e-08	1	1	0
NRAP	4892	broad.mit.edu	37	10	115410292	115410292	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:115410292C>T	ENST00000369358.4	-	8	932	c.688G>A	c.(688-690)Gag>Aag	p.E230K	NRAP_ENST00000359988.3_Missense_Mutation_p.E230K|NRAP_ENST00000369360.3_Missense_Mutation_p.E230K|NRAP_ENST00000360478.3_Missense_Mutation_p.E230K			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	230						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.E230K(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCATAGTCCTCTGTGTATCTC	0.448000													53	81					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46496817	46496817	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:46496817C>A	ENST00000231751.4	-	5	910	c.615G>T	c.(613-615)caG>caT	p.Q205H	LTF_ENST00000417439.1_Missense_Mutation_p.Q205H|LTF_ENST00000426532.2_Missense_Mutation_p.Q161H	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	205	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.Q205_E206>H*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AGTACGGTTCCTGGGAGGAGA	0.582000													36	104					2.26627e-22	3.25187e-22	1	1	0
CCDC39	339829	broad.mit.edu	37	3	180378459	180378459	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:180378459C>A	ENST00000273654.4	-	10	1286	c.667G>T	c.(667-669)Gac>Tac	p.D223Y	CCDC39_ENST00000442201.2_Missense_Mutation_p.D139Y			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	139					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.D223Y(1)|p.D139Y(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GCTTGCTGGTCCCAGTTCATT	0.378000													5	43					3.59834e-05	3.88761e-05	1	1	0
ASMTL	8623	broad.mit.edu	37	X	1561078	1561078	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:1561078C>A	ENST00000534940.1	-	2	277		c.e2+1		ASMTL_ENST00000381317.3_Splice_Site|ASMTL_ENST00000381333.4_Splice_Site|ASMTL_ENST00000416733.2_Splice_Site	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like						melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	p.?(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGCCCCTTGCCTGGTACAGC	0.527000													23	68					1.02151e-06	1.14401e-06	1	1	0
FLNC	2318	broad.mit.edu	37	7	128486498	128486498	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:128486498C>A	ENST00000325888.8	+	23	4369	c.4108C>A	c.(4108-4110)Cga>Aga	p.R1370R	FLNC_ENST00000346177.6_Silent_p.R1370R	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1370					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.R1370R(2)		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						CAAGGCCAACCGATTCACTGT	0.642000													21	26					1.13719e-10	1.34751e-10	1	1	0
CYFIP2	26999	broad.mit.edu	37	5	156731349	156731349	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:156731349C>G	ENST00000347377.6	+	8	1201	c.770C>G	c.(769-771)cCc>cGc	p.P257R	CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Missense_Mutation_p.P257R|CYFIP2_ENST00000377576.3_Missense_Mutation_p.P257R|CYFIP2_ENST00000521420.1_Missense_Mutation_p.P231R|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.P182R	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	257					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	p.P257R(6)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TACCTGACTCCCAGTGAGAAA	0.488000													34	263					0	0	1	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938031	116938031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:116938031C>A	ENST00000229554.5	+	1	382	c.245C>A	c.(244-246)cCt>cAt	p.P82H	RSPH4A_ENST00000368580.4_Missense_Mutation_p.P82H|RSPH4A_ENST00000368581.4_Missense_Mutation_p.P82H	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	82					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.P82H(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACATCATCACCTGCTCCTGTC	0.652000									Kartagener syndrome				26	34					8.16721e-17	1.08437e-16	1	1	0
GMFG	9535	broad.mit.edu	37	19	39819649	39819649	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:39819649C>A	ENST00000598034.1	-	6	377	c.348G>T	c.(346-348)gaG>gaT	p.E116D	GMFG_ENST00000253054.8_Missense_Mutation_p.E83D|GMFG_ENST00000602185.1_Missense_Mutation_p.E67D|GMFG_ENST00000601387.1_Missense_Mutation_p.E75D|GMFG_ENST00000600322.1_Missense_Mutation_p.E83D|GMFG_ENST00000597595.1_Missense_Mutation_p.E116D|GMFG_ENST00000594700.1_Intron|GMFG_ENST00000595636.1_3'UTR			O60234	GMFG_HUMAN	glia maturation factor, gamma	116	ADF-H.				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity	p.E116D(2)		breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCTTTGTGAGCTCTGCTGTCT	0.552000													31	63					8.16904e-11	9.72169e-11	1	1	0
RASAL2	9462	broad.mit.edu	37	1	178252788	178252788	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:178252788A>T	ENST00000448150.3	+	2	1056	c.238A>T	c.(238-240)Aca>Tca	p.T80S	RASAL2_ENST00000367649.3_Missense_Mutation_p.T98S|RASAL2_ENST00000465723.1_3'UTR	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.T80L(2)|p.T98L(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTGCATCCTCACAGACAGCCA	0.463000													127	792					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18844354	18844354	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:18844354C>A	ENST00000446231.2	-	51	9112	c.8700G>T	c.(8698-8700)ctG>ctT	p.L2900L	SMG1_ENST00000389467.3_Silent_p.L2900L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2900					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.L2896L(2)|p.L2900L(2)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTAGAGTCTGCAGGGGAACGC	0.468000													589	539					5.96449e-186	1.2355e-185	1	1	0
IGKV4-1	28908	broad.mit.edu	37	2	89185128	89185128	+	RNA	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:89185128G>C	ENST00000390243.2	+	0	216																											CTGTTGCTCTGGATCTCTGGT	0.398000													63	394					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632739	32632739	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:32632739G>A	ENST00000242310.4	-	1	2928	c.2839C>T	c.(2839-2841)Cac>Tac	p.H947Y		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	947					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.H947Y(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAGCAGCGTGAACTTCATCA	0.493000													40	229					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120952514	120952514	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:120952514T>C	ENST00000273666.6	+	12	1434	c.1163T>C	c.(1162-1164)gTa>gCa	p.V388A	STXBP5L_ENST00000492541.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000497029.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000471454.1_Missense_Mutation_p.V388A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	388					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.V388A(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GATCTCATTGTAGTTGATCTG	0.284000													36	137					0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460697	1460697	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:1460697C>A	ENST00000359801.3	-	2	135	c.99G>T	c.(97-99)caG>caT	p.Q33H	SIRPB2_ENST00000537284.1_5'UTR|SIRPB2_ENST00000444444.1_Missense_Mutation_p.Q33H|SIRPB2_ENST00000381630.1_Missense_Mutation_p.Q33H	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	33	Ig-like V-type 1.					integral to membrane		p.Q33H(2)|p.Q132H(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCTGCTGCTCTGCCCAGAGG	0.527000													22	36					6.05902e-23	8.85549e-23	1	1	0
PHF14	9678	broad.mit.edu	37	7	11068363	11068363	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:11068363G>T	ENST00000403050.3	+	7	1825	c.1373G>T	c.(1372-1374)tGt>tTt	p.C458F	PHF14_ENST00000445996.2_Missense_Mutation_p.C173F	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	458							zinc ion binding	p.C458F(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGCATTAGCTGTGATGCAGGG	0.448000													85	222					8.34767e-46	1.42401e-45	1	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140711062	140711062	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:140711062G>A	ENST00000517417.1	+	1	811	c.811G>A	c.(811-813)Gag>Aag	p.E271K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E271K	NM_018912.2	NP_061735.1												p.E271K(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCCTGATGAGGGAGCCAA	0.448000													4	63					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61886919	61886919	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:61886919G>T	ENST00000578681.1	+	12	1753		c.e12-1		DDX42_ENST00000583590.1_Splice_Site|DDX42_ENST00000457800.2_Splice_Site|DDX42_ENST00000389924.2_Splice_Site|DDX42_ENST00000359353.5_Splice_Site	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.?(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TGATCTTATAGGGTCGACTGA	0.378000													9	188					4.68919e-08	5.31634e-08	1	1	0
OR10R2	343406	broad.mit.edu	37	1	158450337	158450337	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158450337G>T	ENST00000368152.1	+	1	670	c.670G>T	c.(670-672)Gtt>Ttt	p.V224F	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V224F(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CATTTGTGGAGTTCTTGTACT	0.423000													160	261					2.72223e-112	5.47427e-112	1	1	0
MCTP1	79772	broad.mit.edu	37	5	94224666	94224666	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:94224666C>A	ENST00000515393.1	-	12	1850	c.1851G>T	c.(1849-1851)agG>agT	p.R617S	MCTP1_ENST00000312216.8_Missense_Mutation_p.R396S|MCTP1_ENST00000429576.2_Missense_Mutation_p.R350S|MCTP1_ENST00000505078.1_Missense_Mutation_p.R133S|MCTP1_ENST00000505208.1_Missense_Mutation_p.R396S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	617	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.R617S(2)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGTGAAATATCCTCAATGGGC	0.423000													95	85					2.12868e-59	3.83301e-59	1	1	0
SEC16A	9919	broad.mit.edu	37	9	139371251	139371251	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:139371251C>A	ENST00000313050.7	-	1	890	c.817G>T	c.(817-819)Gca>Tca	p.A273S	SEC16A_ENST00000431893.2_Missense_Mutation_p.A95S|SEC16A_ENST00000290037.6_Missense_Mutation_p.A95S|SEC16A_ENST00000371706.3_Missense_Mutation_p.A95S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	95					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.A273S(4)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCAAGGCTGCTGGGGGAGCC	0.587000													3	5					0.150653	0.150653	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129635943	129635943	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:129635943G>T	ENST00000421865.2	+	24	3604	c.3555_splice	c.e24+1	p.W1185_splice		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1185	Laminin IV type A 2.				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	p.W1185F(2)		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)		TCCGGACGTGGGTGAGTAGGG	0.483000													59	92					1.43987e-31	2.26676e-31	1	1	0
GPR128	84873	broad.mit.edu	37	3	100373932	100373932	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:100373932G>A	ENST00000273352.3	+	12	1901	c.1633G>A	c.(1633-1635)Gca>Aca	p.A545T	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.A250T	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	545					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A545T(2)		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						TACCTGGAACGCACTCAGCGC	0.458000													111	534					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15492159	15492159	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:15492159T>A	ENST00000281513.5	-	35	4161	c.4136A>T	c.(4135-4137)gAa>gTa	p.E1379V	NBAS_ENST00000441750.1_Missense_Mutation_p.E1259V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1379								p.E1379V(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTGATATTTTCCCCTCCTTC	0.368000													54	278					0	0	1	0	0
BRE	9577	broad.mit.edu	37	2	28521252	28521252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:28521252C>T	ENST00000344773.2	+	11	1120	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	BRE_ENST00000342045.2_Nonsense_Mutation_p.Q328*|BRE_ENST00000379624.1_Nonsense_Mutation_p.Q328*|BRE_ENST00000379632.2_Nonsense_Mutation_p.Q328*|BRE_ENST00000361704.2_Nonsense_Mutation_p.Q328*	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	328	UEV-like 2.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.Q328*(9)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TCTCACATTTCAGTCCGTTTA	0.428000													257	435					0	0	1	0	0
IFNA7	3444	broad.mit.edu	37	9	21202067	21202067	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:21202067C>A	ENST00000239347.3	-	1	137	c.98G>T	c.(97-99)cGt>cTt	p.R33L		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	33					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.R33L(2)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCTCCTATTACGCAGGCTGTG	0.507000													44	226					4.86159e-25	7.1816e-25	1	1	0
LRRC66	339977	broad.mit.edu	37	4	52861722	52861722	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:52861722C>T	ENST00000343457.3	-	4	1472	c.1466G>A	c.(1465-1467)gGa>gAa	p.G489E		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	489						integral to membrane		p.G489E(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCCGCACTGTCCTGGGCTCTG	0.547000													127	270					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95088804	95088804	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:95088804G>T	ENST00000553947.1	+	7	2007	c.1119G>T	c.(1117-1119)ggG>ggT	p.G373G	SERPINA3_ENST00000482740.1_Silent_p.G130G|SERPINA3_ENST00000467132.1_Silent_p.G348G|SERPINA3_ENST00000393078.3_Silent_p.G348G|SERPINA3_ENST00000556388.1_3'UTR|SERPINA3_ENST00000393080.4_Silent_p.G348G			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	348	RCL.				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.G348G(2)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GGATCACAGGGGCCAGGAACC	0.502000													21	30					5.26018e-13	6.48402e-13	1	1	0
FUBP1	8880	broad.mit.edu	37	1	78422351	78422351	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:78422351C>A	ENST00000370767.1	-	17	1698	c.1611G>T	c.(1609-1611)tgG>tgT	p.W537C	FUBP1_ENST00000370768.2_Missense_Mutation_p.W537C|FUBP1_ENST00000436586.2_Missense_Mutation_p.W558C			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	537	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.W537C(2)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATAAGCAGCCCAAGCTGCTG	0.453000			"""F, N"""		oligodendroglioma								93	422					3.77761e-39	6.28841e-39	1	1	0
ZNF99	7652	broad.mit.edu	37	19	22941575	22941575	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:22941575C>G	ENST00000397104.3	-	5	862	c.863G>C	c.(862-864)aGc>aCc	p.S288T	ZNF99_ENST00000596209.1_Missense_Mutation_p.S379T					zinc finger protein 99									p.S288T(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGACAAATTGCTAAAAGCTTT	0.373000													25	113					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21014281	21014281	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:21014281G>A	ENST00000247986.2	-	8	1848	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	KIF17_ENST00000400463.3_Missense_Mutation_p.S513F|KIF17_ENST00000375044.1_Missense_Mutation_p.S413F|KIF17_ENST00000490034.1_Intron			Q9P2E2	KIF17_HUMAN	kinesin family member 17	513					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.S513F(2)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTGAGTCTTGGAGACATCGTC	0.542000													22	208					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482152	37482152	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:37482152C>A	ENST00000374660.1	+	33	2868	c.2769C>A	c.(2767-2769)gcC>gcA	p.A923A	ANKRD30A_ENST00000361713.1_Silent_p.A804A|ANKRD30A_ENST00000602533.1_Silent_p.A804A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	974						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A804A(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAACTAAAGCCTTAGAATTGA	0.279000													19	58					7.76418e-22	1.11119e-21	1	1	0
ATPIF1	93974	broad.mit.edu	37	1	28564414	28564414	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:28564414G>T	ENST00000335514.5	+	3	297	c.246G>T	c.(244-246)aaG>aaT	p.K82N	ATPIF1_ENST00000465645.1_3'UTR|ATPIF1_ENST00000468425.2_Intron|ATPIF1_ENST00000497986.1_3'UTR	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	82					angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity	p.K82N(2)		lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TTCATCATAAGAAGGAGATTG	0.418000													40	48					1.41504e-22	2.03573e-22	1	1	0
IQGAP1	8826	broad.mit.edu	37	15	90996394	90996394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:90996394G>T	ENST00000268182.5	+	13	1481	c.1357G>T	c.(1357-1359)Gca>Tca	p.A453S	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	453					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	p.A453S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCTCTCTGTCGCAGTGGAGAT	0.478000													56	413					5.10508e-28	7.77044e-28	1	1	0
FRAS1	80144	broad.mit.edu	37	4	79296926	79296926	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:79296926G>T	ENST00000264895.6	+	26	3625	c.3185G>T	c.(3184-3186)aGg>aTg	p.R1062M	FRAS1_ENST00000325942.6_Missense_Mutation_p.R1062M	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1061					cell communication	integral to membrane|plasma membrane	metal ion binding	p.R1062I(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCAGCCACAGGGACCGTTGT	0.483000													14	34					8.60227e-14	1.07724e-13	1	1	0
OR6K2	81448	broad.mit.edu	37	1	158669653	158669653	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158669653A>G	ENST00000359610.2	-	1	833	c.790T>C	c.(790-792)Tct>Cct	p.S264P		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S264P(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TAGGTGGCAGAGAAGCGTAGG	0.478000													193	193					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531706	42531706	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:42531706G>T	ENST00000282030.5	+	4	2697	c.2401G>T	c.(2401-2403)Gag>Tag	p.E801*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	801						nucleus	DNA binding	p.E801*(2)|p.E747*(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAATTTTTCAGAGTTGAAAAC	0.498000									Schinzel-Giedion syndrome				69	146					2.1672e-28	3.31701e-28	1	1	0
OR4A5	81318	broad.mit.edu	37	11	51412283	51412283	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:51412283A>T	ENST00000319760.6	-	1	165	c.113T>A	c.(112-114)gTg>gAg	p.V38E		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V38E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAGGTTCCCCACCACTGTCAC	0.428000													107	119					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1161857	1161857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:1161857C>T	ENST00000356191.2	+	18	1528	c.1528C>T	c.(1528-1530)Cag>Tag	p.Q510*						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GTTCCTGAACCAGATCTACAC	0.672000													2	1					0	0	1	0	0
GOT1L1	137362	broad.mit.edu	37	8	37794885	37794885	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:37794885G>T	ENST00000307599.4	-	4	528	c.429C>A	c.(427-429)ttC>ttA	p.F143L		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	143					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	p.F143L(4)		central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CCATGTCCTGGAAGACGAGTC	0.542000													10	16					5.16669e-11	6.17537e-11	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48618353	48618353	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:48618353G>T	ENST00000328333.8	-	53	5049	c.4942C>A	c.(4942-4944)Ccg>Acg	p.P1648T	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1648T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1648	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.P1648T(2)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCAAACCCGGGTCACCCTGG	0.557000													5	9					0.0215528	0.0219512	1	1	0
OR4C13	283092	broad.mit.edu	37	11	49974443	49974443	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:49974443C>A	ENST00000555099.1	+	1	501	c.469C>A	c.(469-471)Cag>Aag	p.Q157K		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q157K(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGCAACCATACAGATCCTCTT	0.443000													304	386					8.09367e-118	1.64561e-117	1	1	0
TECTA	7007	broad.mit.edu	37	11	120983847	120983847	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:120983847G>C	ENST00000392793.1	+	5	824	c.553G>C	c.(553-555)Gaa>Caa	p.E185Q	TECTA_ENST00000264037.2_Missense_Mutation_p.E185Q			O75443	TECTA_HUMAN	tectorin alpha	185	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.E185Q(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAATTATTACGAAATCAACTG	0.572000											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	29					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1491645	1491645	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:1491645G>T	ENST00000345913.4	+	10	1741	c.1650G>T	c.(1648-1650)caG>caT	p.Q550H	TPO_ENST00000349624.3_Missense_Mutation_p.Q377H|TPO_ENST00000382201.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.Q550H|TPO_ENST00000329066.4_Missense_Mutation_p.Q550H|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.Q550H|TPO_ENST00000382198.1_Missense_Mutation_p.Q377H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	550					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.Q550H(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCAAACTGCAGGTGCAGGATC	0.537000													4	64					2.56e-06	2.84387e-06	1	1	0
TKTL2	84076	broad.mit.edu	37	4	164394546	164394546	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:164394546G>T	ENST00000280605.3	-	1	501	c.341C>A	c.(340-342)cCc>cAc	p.P114H		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	114						cytoplasm	metal ion binding|transketolase activity	p.P114H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CGGCAATCGGGGGGTAGGGTG	0.532000													26	50					4.74835e-14	6.02844e-14	1	1	0
RYR3	6263	broad.mit.edu	37	15	34018617	34018617	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:34018617C>A	ENST00000389232.4	+	46	7013	c.6943C>A	c.(6943-6945)Cgc>Agc	p.R2315S	RYR3_ENST00000415757.3_Missense_Mutation_p.R2315S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2315	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2315S(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAGCCATCCGCATCAGGTC	0.552000													8	49					5.50884e-06	6.07074e-06	1	1	0
PPIG	9360	broad.mit.edu	37	2	170493474	170493474	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:170493474G>C	ENST00000260970.3	+	14	1926	c.1706G>C	c.(1705-1707)aGg>aCg	p.R569T	PPIG_ENST00000448752.2_Missense_Mutation_p.R569T|PPIG_ENST00000409714.3_Missense_Mutation_p.R554T	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	569	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R569T(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AGCAGAAGTAGGGACAGAAGC	0.433000													31	200					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86905119	86905119	+	Missense_Mutation	SNP	C	C	A	rs11568388		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:86905119C>A	ENST00000376238.4	-	11	1148	c.1099G>T	c.(1099-1101)Ggg>Tgg	p.G367W	SLC28A3_ENST00000537648.1_Missense_Mutation_p.G298W	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	367			G -> R (reduced transport of inosine and thymidine).		nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	p.G367W(2)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GTAGAGAACCCGGCGGTCATG	0.458000													40	168					8.77104e-35	1.42562e-34	1	1	0
SPON1	10418	broad.mit.edu	37	11	14284462	14284462	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:14284462C>A	ENST00000310358.7	+	0	2736				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	p.A733D(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TGGAGGGAGGCCCGAGAGAGC	0.582000													42	11					3.4345e-17	4.61563e-17	1	1	0
HAVCR2	84868	broad.mit.edu	37	5	156533775	156533775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:156533775C>A	ENST00000307851.4	-	2	987	c.257G>T	c.(256-258)gGg>gTg	p.G86V	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Missense_Mutation_p.G86V|HAVCR2_ENST00000517358.1_5'UTR	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	86	Ig-like V-type.					integral to membrane		p.G86V(2)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGGAAATCCCCATTTAGCCA	0.488000													243	688					1.91251e-89	3.76355e-89	1	1	0
MSH2	4436	broad.mit.edu	37	2	47656893	47656893	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:47656893G>T	ENST00000406134.1	+	7	1151	c.1089G>T	c.(1087-1089)gtG>gtT	p.V363V	MSH2_ENST00000543555.1_Silent_p.V297V|MSH2_ENST00000233146.2_Silent_p.V363V			P43246	MSH2_HUMAN	mutS homolog 2	363					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)|p.V363V(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAATTTAGTGGAAGCTTTTG	0.303000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	40					0.000442599	0.000470796	1	1	0
CARD16	114769	broad.mit.edu	37	11	104912157	104912157	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:104912157C>A	ENST00000375706.2	-	3	581	c.564G>T	c.(562-564)gaG>gaT	p.E188D	CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16									p.E188D(2)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						CAGTTTGCAACTCTTTACCTA	0.383000													39	99					6.27289e-28	9.52166e-28	1	1	0
BTN2A3P	54718	broad.mit.edu	37	6	26428332	26428332	+	RNA	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:26428332C>T	ENST00000466808.2	+	0	1301																											GTAAAAGAggccaggtatggt	0.463000													10	31					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755798	10755798	+	Silent	SNP	C	C	A	rs61745501	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:10755798C>A	ENST00000416569.2	-	3	1616	c.1590G>T	c.(1588-1590)gcG>gcT	p.A530A	XKR6_ENST00000304437.2_Silent_p.A251A	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	530						integral to membrane		p.A530A(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGATCTCAGGCGCCATGGGCT	0.612000													38	75					1.41504e-22	2.03573e-22	1	1	0
COL3A1	1281	broad.mit.edu	37	2	189849653	189849653	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:189849653G>A	ENST00000304636.3	+	2	417	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E83K	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	83	VWFC.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.E83K(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCATTTGGAGAATGTTGTGC	0.398000													6	73					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97052115	97052115	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:97052115T>C	ENST00000524981.3	+	5	804	c.804T>C	c.(802-804)taT>taC	p.Y268Y				Q6ZTY8	CL063_HUMAN		242								p.Y242Y(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGGCTGAATATGGAGAGAAGG	0.378000													52	322					0	0	1	0	0
SLC45A2	51151	broad.mit.edu	37	5	33954552	33954552	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:33954552G>A	ENST00000382102.3	-	4	1003	c.946C>T	c.(946-948)Cac>Tac	p.H316Y	SLC45A2_ENST00000345083.5_Missense_Mutation_p.H208Y|SLC45A2_ENST00000296589.4_Missense_Mutation_p.H316Y|SLC45A2_ENST00000509381.1_Missense_Mutation_p.S207L|SLC45A2_ENST00000342059.3_Missense_Mutation_p.H257Y	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	316					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.H316Y(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TAGCGGTAGTGAGGAGGCATG	0.478000													74	126					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51135683	51135683	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:51135683C>T	ENST00000338916.4	-	2	1167	c.534G>A	c.(532-534)ggG>ggA	p.G178G	SYT3_ENST00000600079.1_Silent_p.G178G|SYT3_ENST00000593901.1_Silent_p.G178G|SYT3_ENST00000544769.1_Silent_p.G178G	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	178						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.G178G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCGGTTTGACCCCAGCGGCCA	0.667000													4	8					0	0	1	0	0
GPR12	2835	broad.mit.edu	37	13	27333071	27333071	+	Silent	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:27333071A>G	ENST00000405846.3	-	2	1115	c.894T>C	c.(892-894)ccT>ccC	p.P298P	GPR12_ENST00000381436.2_Silent_p.P298P	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	298						integral to plasma membrane		p.P298P(2)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CATATATGACAGGGTTGATGA	0.542000													10	55					0	0	1	0	0
RPL17-C18orf32	100526842	broad.mit.edu	37	18	47015750	47015750	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:47015750C>A	ENST00000584895.1	-	5	500	c.486G>T	c.(484-486)gaG>gaT	p.E162D	RPL17_ENST00000580261.1_Missense_Mutation_p.E162D|RPL17_ENST00000580210.1_Missense_Mutation_p.E152D|RPL17_ENST00000579248.1_Missense_Mutation_p.E162D|RPL17_ENST00000581373.1_Missense_Mutation_p.E124D|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.E124D|RPL17_ENST00000581091.1_5'UTR|RPL17_ENST00000579408.1_Missense_Mutation_p.E162D|MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000418495.1_Missense_Mutation_p.E162D	NM_001199355.1|NM_001199356.1	NP_001186284.1|NP_001186285.1												p.E162D(8)									GGGCAACCTCCTCTTCTGGTT	0.428000													27	54					1.15505e-17	1.55988e-17	1	1	0
DGCR5	26220	broad.mit.edu	37	22	19002009	19002009	+	RNA	SNP	G	G	T	rs56157180	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:19002009G>T	ENST00000440005.2	+	0	828				DGCR5_ENST00000424407.1_RNA																							ACAAATCCAAGATTAGCACAG	0.458000													3	49					0.115264	0.115895	1	1	0
THEG	51298	broad.mit.edu	37	19	362338	362338	+	Silent	SNP	G	G	A	rs145779146	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:362338G>A	ENST00000342640.4	-	8	1044	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P	THEG_ENST00000346878.2_Silent_p.P310P	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	334					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.P334P(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGATGATCCGGGGGCTGGCCA	0.622000													4	64					0	0	1	0	0
TSLP	85480	broad.mit.edu	37	5	110407688	110407688	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:110407688T>A	ENST00000420978.2	+	2	1522	c.100T>A	c.(100-102)Tgt>Agt	p.C34S	TSLP_ENST00000344895.3_Missense_Mutation_p.C34S			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	34						extracellular space	cytokine activity	p.C34S(2)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTTCACTAACTGTGACTTTGA	0.348000													87	130					0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133364724	133364724	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:133364724C>G	ENST00000372394.1	+	13	1324	c.843C>G	c.(841-843)atC>atG	p.I281M	ASS1_ENST00000372393.3_Missense_Mutation_p.I281M|ASS1_ENST00000352480.5_Missense_Mutation_p.I281M|ASS1_ENST00000493984.2_3'UTR			P00966	ASSY_HUMAN	argininosuccinate synthase 1	281					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	p.I281M(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GGCTAGGTATCTACGAGACCC	0.448000													11	36					0	0	1	0	0
HAUS7	55559	broad.mit.edu	37	X	152721086	152721086	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:152721086C>G	ENST00000370219.3	-	8	1431	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.E292Q|HAUS7_ENST00000421080.2_Silent_p.A113A|TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000334497.2_5'UTR|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370211.4_Missense_Mutation_p.E282Q	NM_017518.6	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	292					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	p.E292Q(2)|p.E292*(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						TGGCAGCACTCGCCCAGCTCG	0.602000													34	16					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28880415	28880415	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:28880415C>T	ENST00000337120.5	+	3	4421	c.1130C>T	c.(1129-1131)cCa>cTa	p.P377L	SH2B1_ENST00000395532.4_Missense_Mutation_p.P377L|SH2B1_ENST00000545570.1_Missense_Mutation_p.P67L|SH2B1_ENST00000359285.5_Missense_Mutation_p.P377L|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.P377L|SH2B1_ENST00000538342.1_Missense_Mutation_p.P41L	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	377	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.P377L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TGCCTGAGCCCAGGGTGAGAA	0.557000													6	113					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141267498	141267498	+	Splice_Site	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:141267498G>A	ENST00000389484.3	-	52	9368	c.8398_splice	c.e52+1	p.C2799_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2799	LDL-receptor class A 17.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C2799C(2)		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)		TGTTCATACCGCAGCCTGCTG	0.507000										TSP Lung(27;0.18)			41	207					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179396279	179396279	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:179396279G>A	ENST00000589042.1	-	358	105287	c.105063C>T	c.(105061-105063)ggC>ggT	p.G35021G	TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000591111.1_Silent_p.G33380G|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000460472.2_Silent_p.G25956G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000342992.6_Silent_p.G32453G|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Silent_p.G26148G|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Silent_p.G26081G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33380							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G26081G(1)|p.G26148G(1)|p.G32451G(1)|p.G25956G(1)|p.G32453G(1)		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)			CAGAAGCTTCGCCCTTGTAGT	0.507000													17	181					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36322556	36322556	+	Missense_Mutation	SNP	C	C	T	rs144203682	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:36322556C>T	ENST00000378910.5	-	24	3274	c.3275G>A	c.(3274-3276)cGt>cAt	p.R1092H	NPHS1_ENST00000353632.6_Intron	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1092					cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.R1092H(2)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCAGCAAGACGCCTGAGTCT	0.647000													4	10					0	0	1	0	0
ARF5	381	broad.mit.edu	37	7	127231266	127231266	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:127231266G>T	ENST00000000233.5	+	6	610		c.e6-1		GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5						protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	p.?(2)		cervix(2)|kidney(1)|lung(10)|ovary(1)	14						TTTCCCCACAGTGGTATGTCC	0.552000													6	5					2.17888e-05	2.37735e-05	1	1	0
TMEM81	388730	broad.mit.edu	37	1	205053311	205053311	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:205053311G>A	ENST00000367167.3	-	1	334	c.138C>T	c.(136-138)gcC>gcT	p.A46A		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	46						integral to membrane		p.A46A(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TACAGGTTGTGGCATTGATGA	0.532000													43	226					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161576140	161576140	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:161576140A>G	ENST00000356592.3	+	8	1409	c.949A>G	c.(949-951)Acc>Gcc	p.T317A	GABRG2_ENST00000393933.4_Missense_Mutation_p.T222A|GABRG2_ENST00000414552.2_Missense_Mutation_p.T357A|GABRG2_ENST00000361925.4_Missense_Mutation_p.T317A	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	317					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.T317A(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GACAATGACCACCCTCAGCAC	0.463000													14	363					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497137	1497137	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:1497137G>A	ENST00000421627.2	+	2	412	c.278G>A	c.(277-279)cGc>cAc	p.R93H		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	172					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.R137H(1)|p.R115H(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TACGACACGCGCGACGACTGC	0.677000													3	31					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38198822	38198822	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:38198822C>A	ENST00000355202.4	-	4	823	c.228G>T	c.(226-228)gaG>gaT	p.E76D	ZNF607_ENST00000395835.3_Missense_Mutation_p.E75D|CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.E76D	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E76D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TACCTGTACACTCTCCTCTTG	0.443000													39	95					4.17463e-26	6.21681e-26	1	1	0
GAS2L2	246176	broad.mit.edu	37	17	34073054	34073054	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:34073054G>C	ENST00000254466.6	-	6	1489	c.1462C>G	c.(1462-1464)Cca>Gca	p.P488A	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P472A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	488					cell cycle arrest	cytoplasm|cytoskeleton		p.P488A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAGACTCTGGCTCCCTGAAC	0.642000													7	4					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744233	140744233	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:140744233C>G	ENST00000518069.1	+	1	336	c.336C>G	c.(334-336)aaC>aaG	p.N112K	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.N112K(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTTGAGAACAAAATGAAAA	0.443000													5	10					0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161130698	161130698	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:161130698C>T	ENST00000368002.3	+	3	645	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	USP21_ENST00000289865.8_Silent_p.L90L|USP21_ENST00000368001.1_Silent_p.L90L	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	90					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L90L(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGGGGTTCCCCTGCCTGGCTC	0.622000													4	24					0	0	1	0	0
AZI2	64343	broad.mit.edu	37	3	28381959	28381959	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:28381959T>C	ENST00000479665.1	-	2	681	c.150A>G	c.(148-150)aaA>aaG	p.K50K	AZI2_ENST00000420543.2_Silent_p.K50K|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000457172.1_Silent_p.K50K|AZI2_ENST00000334100.6_Silent_p.K50K	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	50						mitochondrion|plasma membrane		p.K50K(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTTAAGTCGTTTTTTGATGT	0.343000													15	20					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50326124	50326124	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:50326124C>A	ENST00000436390.1	-	13	1539	c.1042G>T	c.(1042-1044)Gag>Tag	p.E348*	IFRD2_ENST00000336089.4_Nonsense_Mutation_p.E514*|IFRD2_ENST00000429673.2_Nonsense_Mutation_p.E412*|IFRD2_ENST00000417626.2_Nonsense_Mutation_p.E348*			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	412							binding	p.E514*(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CGCACTATCTCTTCTTCGCAT	0.582000													7	16					0.000274275	0.000292313	1	1	0
PIANP	196500	broad.mit.edu	37	12	6804697	6804697	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:6804697G>A	ENST00000534837.1	-	5	955	c.726C>T	c.(724-726)ttC>ttT	p.F242F	PIANP_ENST00000540656.1_Silent_p.F242F|PIANP_ENST00000320591.5_Silent_p.F242F	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein									p.F242F(2)									GTGAGTCCCCGAAGGCCCCCA	0.692000													3	26					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605172	171605172	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:171605172G>A	ENST00000037502.5	-	3	1467	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	470	Olfactomedin-like.		R -> C (in GLC1A).|R -> H.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.R470C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TACTTATAGCGGTTCTTGAAT	0.488000													125	496					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1459915	1459915	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:1459915C>A	ENST00000345913.4	+	7	771	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	TPO_ENST00000349624.3_Missense_Mutation_p.S227Y|TPO_ENST00000382201.3_Missense_Mutation_p.S227Y|TPO_ENST00000346956.3_Missense_Mutation_p.S227Y|TPO_ENST00000329066.4_Missense_Mutation_p.S227Y|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.S227Y|TPO_ENST00000382198.1_Missense_Mutation_p.S227Y	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	227					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.S227Y(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACCGCTATTCTGACCTCCTG	0.537000													14	32					2.31682e-05	2.52286e-05	1	1	0
PCDH17	27253	broad.mit.edu	37	13	58207122	58207122	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:58207122G>T	ENST00000377918.3	+	1	468	c.442G>T	c.(442-444)Ggc>Tgc	p.G148C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	148	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.G148C(2)		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)		CGCTGCTCCGGGCACCCGCTT	0.617000													6	8					2.0095e-06	2.23683e-06	1	1	0
PIWIL1	9271	broad.mit.edu	37	12	130833803	130833803	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:130833803T>A	ENST00000245255.3	+	8	1026	c.754T>A	c.(754-756)Ttc>Atc	p.F252I		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	252					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.F252I(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTGGCCTGGCTTCACTACTTC	0.438000													5	105					0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380768	56380768	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:56380768T>A	ENST00000526538.1	-	1	210	c.211A>T	c.(211-213)Att>Ttt	p.I71F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I71F(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GAATAGCAAATGTCTACAAAG	0.468000													160	236					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886197	88886197	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:88886197C>A	ENST00000319675.3	-	1	99	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	1								p.M1I(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTTTGCTCTCCATTTCGTTCG	0.522000													32	47					2.80507e-11	3.36731e-11	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23527675	23527675	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:23527675C>A	ENST00000296682.3	+	11	2660	c.2478C>A	c.(2476-2478)caC>caA	p.H826Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	826					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.H826Q(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAGGACACACACAGGGGAGA	0.582000										HNSCC(3;0.000094)			95	355					4.12803e-41	6.93459e-41	1	1	0
PLIN4	729359	broad.mit.edu	37	19	4513206	4513206	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:4513206C>T	ENST00000301286.3	-	3	723	c.724G>A	c.(724-726)Ggt>Agt	p.G242S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	242	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.G170S(1)|p.G242S(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTGTCCACACCGGTCTGAATG	0.572000													3	43					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779674	31779674	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:31779674C>G	ENST00000375654.4	-	2	265	c.76G>C	c.(76-78)Ggc>Cgc	p.G26R	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G26R	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	26					response to unfolded protein		ATP binding	p.G26R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TCCACCTTGCCGTGCTGGAAC	0.607000													18	76					0	0	1	0	0
SLC25A18	83733	broad.mit.edu	37	22	18069984	18069984	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:18069984C>A	ENST00000327451.5	+	8	1030	c.492C>A	c.(490-492)ccC>ccA	p.P164P	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Silent_p.P164P	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	164						integral to membrane|mitochondrial inner membrane	binding|symporter activity	p.P164P(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	ACAGGCGCCCCTCTGCCACCC	0.652000													8	116					5.18039e-06	5.73172e-06	1	1	0
LZTS1	11178	broad.mit.edu	37	8	20112440	20112440	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:20112440G>T	ENST00000381569.1	-	2	610	c.253C>A	c.(253-255)Ctg>Atg	p.L85M	LZTS1_ENST00000265801.6_Missense_Mutation_p.L85M|LZTS1_ENST00000522290.1_Missense_Mutation_p.L85M			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	85					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L85M(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCGCTGGACAGTGCCGTGTAA	0.577000													8	13					0.00307968	0.0032322	1	1	0
LAX1	54900	broad.mit.edu	37	1	203743435	203743435	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:203743435G>T	ENST00000442561.2	+	5	1213	c.823G>T	c.(823-825)Gat>Tat	p.D275Y	LAX1_ENST00000367217.5_Missense_Mutation_p.D259Y|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	275					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.D275Y(2)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GACAGGGTTGGATCTCAGTGC	0.493000													7	82					1.12685e-05	1.23438e-05	1	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28296390	28296390	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr21:28296390G>T	ENST00000284987.5	-	8	2896	c.2775C>A	c.(2773-2775)tgC>tgA	p.C925*	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	925	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.C925*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCTTCAACAAGCATTGCTTAA	0.478000													38	129					1.15183e-24	1.69695e-24	1	1	0
E2F3	1871	broad.mit.edu	37	6	20488470	20488470	+	Missense_Mutation	SNP	G	G	A	rs147333935	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:20488470G>A	ENST00000346618.3	+	6	1192	c.1126G>A	c.(1126-1128)Gct>Act	p.A376T	E2F3_ENST00000535432.1_Missense_Mutation_p.A245T	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	376					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.A376T(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CCCTAAACCCGCTTCCAAAGG	0.408000													4	100					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118968566	118968566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:118968566G>T	ENST00000515256.1	+	2	366	c.194G>T	c.(193-195)cGc>cTc	p.R65L				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	65						intracellular	zinc ion binding	p.R65L(4)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TCTTCTTCACGCAAGCTCATC	0.557000													128	133					8.32301e-65	1.53892e-64	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139151256	139151256	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:139151256A>T	ENST00000395297.1	-	18	4044	c.3874T>A	c.(3874-3876)Ttc>Atc	p.F1292I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1292								p.F1292I(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGTAGAGGAAACATTTGCGC	0.448000										HNSCC(54;0.14)			56	179					0	0	1	0	0
ACTA2	59	broad.mit.edu	37	10	90699439	90699439	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:90699439G>T	ENST00000458208.1	-	7	1107	c.633C>A	c.(631-633)gtC>gtA	p.V211V	ACTA2-AS1_ENST00000437930.3_RNA|ACTA2_ENST00000224784.6_Silent_p.V211V|ACTA2-AS1_ENST00000596007.1_RNA|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	211					response to virus	cytosol	ATP binding	p.V211V(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TGATGTCCCGGACAATCTCAC	0.498000													25	90					7.38237e-10	8.61798e-10	1	1	0
PKNOX2	63876	broad.mit.edu	37	11	125300031	125300031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:125300031C>A	ENST00000298282.9	+	12	1457	c.1186C>A	c.(1186-1188)Ccc>Acc	p.P396T	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.P332T	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	396						nucleus	sequence-specific DNA binding transcription factor activity	p.P396T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AGGGACAAACCCCGATGGTAA	0.602000													9	31					9.05144e-12	1.09372e-11	1	1	0
OXGR1	27199	broad.mit.edu	37	13	97639260	97639260	+	Missense_Mutation	SNP	C	C	A	rs144457939		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:97639260C>A	ENST00000298440.1	-	4	997	c.754G>T	c.(754-756)Gta>Tta	p.V252L	OXGR1_ENST00000543457.1_Missense_Mutation_p.V252L	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	252						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.V252L(2)|p.V252I(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AAAAAACATACGTAAAATGCA	0.438000													65	186					5.45122e-27	8.20662e-27	1	1	0
CDHR4	389118	broad.mit.edu	37	3	49836271	49836271	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:49836271G>T	ENST00000343366.4	-	3	581	c.559C>A	c.(559-561)Cca>Aca	p.P187T	CDHR4_ENST00000487256.1_Silent_p.L161L|CDHR4_ENST00000412678.2_Silent_p.L161L			A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L161L(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GCGCTCCGTGGAGTTCTAGGC	0.612000													4	8					3.59834e-05	3.88761e-05	1	1	0
TBCD	6904	broad.mit.edu	37	17	80726316	80726316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:80726316G>T	ENST00000355528.4	+	5	586	c.456G>T	c.(454-456)atG>atT	p.M152I	TBCD_ENST00000539345.2_Missense_Mutation_p.M152I|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	152					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	p.M152I(2)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCCGCTACATGCTTTTGCTCT	0.498000													59	51					1.20111e-47	2.08117e-47	1	1	0
ZNF326	284695	broad.mit.edu	37	1	90470716	90470716	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:90470716G>T	ENST00000340281.4	+	4	265	c.122G>T	c.(121-123)gGa>gTa	p.G41V	ZNF326_ENST00000370447.2_Missense_Mutation_p.G41V|ZNF326_ENST00000361911.5_Missense_Mutation_p.G41V|ZNF326_ENST00000455342.2_Intron	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	41	Gly-rich.|Mediates transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	p.G41V(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TATGGCCATGGATCCTATGGG	0.408000													130	116					7.97313e-81	1.5469e-80	1	1	0
LRRC47	57470	broad.mit.edu	37	1	3703627	3703627	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:3703627T>A	ENST00000378251.1	-	2	890	c.863A>T	c.(862-864)aAg>aTg	p.K288M		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	288					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		ccgcctctgcttcctctccct	0.672000													2	2					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835561	247835561	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:247835561G>C	ENST00000359688.2	-	1	804	c.783C>G	c.(781-783)tcC>tcG	p.S261S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S261S(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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)			ATGTATAGCTGGAAGCAGGGC	0.463000													135	178					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33457284	33457284	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:33457284G>A	ENST00000305768.4	-	2	216	c.128C>T	c.(127-129)cCa>cTa	p.P43L	CEP89_ENST00000590597.1_Missense_Mutation_p.P43L	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	43						centrosome|spindle pole		p.P43L(2)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTCTGGAGATGGGTTGGGGCT	0.572000													49	78					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207470	58207470	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:58207470G>T	ENST00000377918.3	+	1	816	c.790G>T	c.(790-792)Gat>Tat	p.D264Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	264	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.D264Y(2)		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)		AGTGGTCATCGATCTGAACGC	0.587000													11	34					1.36491e-13	1.70536e-13	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117486760	117486760	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:117486760A>T	ENST00000355044.3	+	27	3924	c.3798A>T	c.(3796-3798)caA>caT	p.Q1266H	ATRNL1_ENST00000423111.2_Missense_Mutation_p.Q317H|ATRNL1_ENST00000303745.7_Missense_Mutation_p.Q59H	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1266						integral to membrane	sugar binding	p.Q1266H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCCTCCAGCAACTGCTTCGAG	0.428000													25	79					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28893606	28893606	+	Missense_Mutation	SNP	G	G	T	rs116034414	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:28893606G>T	ENST00000282397.4	-	24	3491	c.3240C>A	c.(3238-3240)agC>agA	p.S1080R	FLT1_ENST00000543394.1_Missense_Mutation_p.S103R|FLT1_ENST00000540678.1_Missense_Mutation_p.S298R	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1080	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.S1080R(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ACCACACGTCGCTCTTGGTGC	0.463000													19	47					6.44725e-10	7.55837e-10	1	1	0
TIMMDC1	51300	broad.mit.edu	37	3	119222382	119222382	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:119222382T>G	ENST00000494664.1	+	3	566	c.364T>G	c.(364-366)Tct>Gct	p.S122A	TIMMDC1_ENST00000493694.1_Intron	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	122						integral to membrane|mitochondrial inner membrane	protein transporter activity	p.S122A(2)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ACTTTAGCAATCTGCACATCG	0.418000													13	47					0	0	1	0	0
LCP2	3937	broad.mit.edu	37	5	169697832	169697832	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:169697832G>T	ENST00000046794.5	-	7	1029	c.414C>A	c.(412-414)ccC>ccA	p.P138P		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	138					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	p.P138P(6)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CATCTTCCACGGGTGCCTCTT	0.547000													34	88					9.8876e-21	1.39694e-20	1	1	0
AKAP6	9472	broad.mit.edu	37	14	33242894	33242894	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:33242894G>A	ENST00000280979.4	+	12	3553	c.3383G>A	c.(3382-3384)cGt>cAt	p.R1128H	AKAP6_ENST00000557272.1_Missense_Mutation_p.R1128H	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1128					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.R1128H(2)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCCCTCTGTCGTGAAATCAAG	0.448000													71	775					0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705328	41705328	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:41705328C>A	ENST00000379485.1	-	1	1554	c.1320G>T	c.(1318-1320)ttG>ttT	p.L440F	KBTBD6_ENST00000499385.2_Missense_Mutation_p.L374F	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	440							protein binding	p.L440F(2)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTCGCCCCCCCAAAATGTAGA	0.473000													44	304					7.77372e-23	1.13315e-22	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	76975867	76975867	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:76975867G>T	ENST00000409911.1	-	3	1953	c.1730C>A	c.(1729-1731)gCc>gAc	p.A577D	LRRTM4_ENST00000409884.1_Missense_Mutation_p.A576D|LRRTM4_ENST00000409093.1_Missense_Mutation_p.A576D	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	576						integral to membrane		p.A576E(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGCCGACCTGGCGATGGTGGC	0.612000													62	222					2.55378e-55	4.51004e-55	1	1	0
ZNF680	340252	broad.mit.edu	37	7	64004155	64004155	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:64004155C>G	ENST00000309683.6	-	3	334	c.183G>C	c.(181-183)ctG>ctC	p.L61L	ZNF680_ENST00000447137.2_Silent_p.L61L|ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L61L(2)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				AACAGGTTATCAGGTGAGGCT	0.398000													93	161					0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137816623	137816623	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:137816623C>T	ENST00000327532.2	-	3	930	c.568G>A	c.(568-570)Gca>Aca	p.A190T	DZIP1L_ENST00000469243.1_Missense_Mutation_p.A190T	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	190						intracellular	zinc ion binding	p.A190T(2)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						gccacgcctgcatgcctgcgc	0.577000											OREG0015831	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	41					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534270	92534270	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:92534270C>G	ENST00000298047.6	+	9	8108	c.8091C>G	c.(8089-8091)caC>caG	p.H2697Q	FAT3_ENST00000409404.2_Missense_Mutation_p.H2697Q|FAT3_ENST00000525166.1_Missense_Mutation_p.H2547Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2697	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.H2697Q(4)		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)				TCTATATCCACGTCTTGCCCC	0.458000										TCGA Ovarian(4;0.039)			50	66					0	0	1	0	0
PMS2CL	441194	broad.mit.edu	37	7	6776956	6776956	+	RNA	SNP	A	A	G	rs7804542	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:6776956A>G	ENST00000486256.1	+	0	1083					NR_002217.1																						ATCTCTGACAAAGGCGTCCTG	0.557000													5	123					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197024971	197024971	+	Missense_Mutation	SNP	C	C	A	rs144134146	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:197024971C>A	ENST00000367412.1	-	8	1271	c.1228G>T	c.(1228-1230)Ggg>Tgg	p.G410W		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	410	Sushi 7.				blood coagulation	extracellular region		p.G410W(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GCCAATATCCCGTCTGCAACA	0.363000													167	139					7.53197e-71	1.41642e-70	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52320977	52320977	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:52320977G>T	ENST00000356297.4	-	17	3307	c.3207C>A	c.(3205-3207)gcC>gcA	p.A1069A	PXDNL_ENST00000543296.1_Silent_p.A1069A	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1069					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.A1069A(2)|p.A268A(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACCTAAGGTGGCATTCAGTC	0.468000													7	10					0.00621372	0.00645992	1	1	0
TGM5	9333	broad.mit.edu	37	15	43552761	43552761	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:43552761G>A	ENST00000220420.5	-	2	34	c.27C>T	c.(25-27)ctC>ctT	p.L9L	TGM5_ENST00000349114.4_Silent_p.L9L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	9					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.L9L(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGAGGTCTGTGAGGGCCACTT	0.562000													79	131					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78195558	78195558	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:78195558C>A	ENST00000370793.1	-	10	1143	c.797G>T	c.(796-798)gGg>gTg	p.G266V	USP33_ENST00000370792.3_Missense_Mutation_p.G266V|USP33_ENST00000357428.1_Missense_Mutation_p.G266V|USP33_ENST00000370794.3_Missense_Mutation_p.G235V	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	266					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.G266V(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CTGAGAATACCCCCGAAATGT	0.318000													25	165					1.45844e-13	1.80584e-13	1	1	0
KANSL3	55683	broad.mit.edu	37	2	97274401	97274401	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:97274401C>A	ENST00000599854.1	-	14	1791	c.1323_splice	c.e14-1	p.D442_splice	KANSL3_ENST00000441706.2_Splice_Site_p.D442_splice|KANSL3_ENST00000440133.1_Splice_Site_p.D323_splice|KANSL3_ENST00000431828.1_Splice_Site_p.D529_splice|KANSL3_ENST00000487070.1_5'UTR	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	529								p.D529Y(2)									CTGGAGAGATCCTGAGTAAGG	0.517000													75	188					2.32385e-29	3.57665e-29	1	1	0
ZNF135	7694	broad.mit.edu	37	19	58579729	58579729	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:58579729G>A	ENST00000506786.1	+	5	2305	c.1751G>A	c.(1750-1752)aGg>aAg	p.R584K	ZNF135_ENST00000401053.4_Missense_Mutation_p.R650K|ZNF135_ENST00000439855.2_Missense_Mutation_p.R626K|ZNF135_ENST00000511556.1_Missense_Mutation_p.R638K|ZNF135_ENST00000313434.5_Missense_Mutation_p.R626K|ZNF135_ENST00000359978.6_Intron			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	638					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R650K(2)|p.R626K(2)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAGCACCGGAGGATCCACACA	0.547000													9	73					0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22969320	22969320	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:22969320G>A	ENST00000356864.3	+	2	680	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	TNFRSF10C_ENST00000520607.1_3'UTR|TNFRSF10C_ENST00000540813.1_Intron	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	50					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity	p.G50R(1)		endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CAGCTTCAAGGGGGAGGAGTG	0.463000													18	83					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975866	76975866	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:76975866G>T	ENST00000409911.1	-	3	1954	c.1731C>A	c.(1729-1731)gcC>gcA	p.A577A	LRRTM4_ENST00000409884.1_Silent_p.A576A|LRRTM4_ENST00000409093.1_Silent_p.A576A	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	576						integral to membrane		p.A576E(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTGCCGACCTGGCGATGGTGG	0.607000													61	225					1.54771e-57	2.7688e-57	1	1	0
SEC31B	25956	broad.mit.edu	37	10	102249075	102249075	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:102249075G>C	ENST00000370345.3	-	23	3202	c.3105C>G	c.(3103-3105)ccC>ccG	p.P1035P		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1035	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		p.P1035P(2)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GGGGCTGTGAGGGAAGAATCC	0.537000													8	31					0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157737060	157737060	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:157737060C>A	ENST00000361516.3	-	6	1171	c.1123G>T	c.(1123-1125)Ggg>Tgg	p.G375W	FCRL2_ENST00000469986.1_Missense_Mutation_p.G122W|FCRL2_ENST00000392274.3_Missense_Mutation_p.G375W|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	375	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	p.G375W(2)|p.G122W(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACTGGGCCCCCAGGCCGTTG	0.577000													229	280					5.13329e-129	1.04757e-128	1	1	0
ZIC2	7546	broad.mit.edu	37	13	100637593	100637593	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:100637593C>T	ENST00000376335.3	+	3	1549	c.1256C>T	c.(1255-1257)cCg>cTg	p.P419L	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	419					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P419L(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGTCCTCCCCGCAGGGCTCT	0.711000													3	2					0	0	1	0	0
DYM	54808	broad.mit.edu	37	18	46858254	46858254	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:46858254C>A	ENST00000269445.6	-	8	1200	c.743G>T	c.(742-744)gGa>gTa	p.G248V	DYM_ENST00000578396.1_Missense_Mutation_p.G93V|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	248						Golgi apparatus		p.G248V(2)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TGATGCAAGTCCATAAAGCAG	0.398000													22	148					1.77063e-15	2.29557e-15	1	1	0
TRIM69	140691	broad.mit.edu	37	15	45052015	45052015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:45052015C>A	ENST00000558173.1	+	4	5039	c.294C>A	c.(292-294)taC>taA	p.Y98*	TRIM69_ENST00000559390.1_Nonsense_Mutation_p.Y302*|TRIM69_ENST00000329464.4_Nonsense_Mutation_p.Y302*|TRIM69_ENST00000558329.1_Nonsense_Mutation_p.Y81*|TRIM69_ENST00000338264.4_Nonsense_Mutation_p.Y143*|TRIM69_ENST00000560442.1_Nonsense_Mutation_p.Y98*|TRIM69_ENST00000561043.1_Nonsense_Mutation_p.Y65*			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	302	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding	p.Y302*(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TGGGCCAGTACAAAGGTCCTA	0.473000													40	336					5.44703e-19	7.48457e-19	1	1	0
ZC3H11A	9877	broad.mit.edu	37	1	203821508	203821508	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:203821508C>G	ENST00000545588.1	+	17	6241	c.2414C>G	c.(2413-2415)tCa>tGa	p.S805*	ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	805							nucleic acid binding|protein binding|zinc ion binding	p.S805*(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTGAGCTATCAGAAATGATT	0.378000													3	46					0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28210368	28210368	+	Missense_Mutation	SNP	G	G	A	rs149580995	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr21:28210368G>A	ENST00000284984.2	-	9	2888	c.2434C>T	c.(2434-2436)Cgc>Tgc	p.R812C		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	812	Spacer.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.R812C(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CTAAAGCTGCGAATTCTTTCC	0.448000													3	41					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106135	55106135	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:55106135C>T	ENST00000453777.1	+	4	246	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.L26F|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	26					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.L26F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCCAGGGACCCTCCCCAAGCC	0.587000													39	49					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196683021	196683021	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:196683021G>A	ENST00000367429.4	+	10	1733	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	498	Sushi 8.				complement activation, alternative pathway	extracellular space		p.G498E(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGGAAAGATGGATGGTCAGCT	0.333000													31	195					0	0	1	0	0
TBC1D7	51256	broad.mit.edu	37	6	13321220	13321220	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:13321220C>A	ENST00000607658.1	-	3	370	c.220G>T	c.(220-222)Gcc>Tcc	p.A74S	TBC1D7_ENST00000356436.4_Missense_Mutation_p.A101S|TBC1D7_ENST00000379307.2_Missense_Mutation_p.A74S|TBC1D7_ENST00000379300.3_Missense_Mutation_p.A101S|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Missense_Mutation_p.A101S			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	101	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	p.A101S(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			TGAGGTGTGGCATCACTAACA	0.502000													218	330					5.16255e-81	1.00515e-80	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70226056	70226056	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:70226056C>A	ENST00000310961.5	+	4	602	c.184C>A	c.(184-186)Caa>Aaa	p.Q62K	LRRC7_ENST00000035383.5_Missense_Mutation_p.Q57K|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.Q95K			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	57						centrosome|focal adhesion|nucleolus	protein binding	p.Q95K(2)|p.Q57K(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGATGCCAATCAAATTGAAGA	0.338000													36	240					1.41504e-22	2.03573e-22	1	1	0
OTUD6A	139562	broad.mit.edu	37	X	69282458	69282458	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:69282458C>G	ENST00000338352.2	+	1	118	c.84C>G	c.(82-84)agC>agG	p.S28R		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	28								p.S28R(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGATCCGGAGCTTAAAAAACT	0.582000													5	1					0	0	1	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442329	89442329	+	RNA	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:89442329G>T	ENST00000492167.1	-	0	127																											CCTGGAGACTGCGTCAACACA	0.498000													28	210					8.4185e-14	1.05904e-13	1	1	0
GPR151	134391	broad.mit.edu	37	5	145895383	145895383	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:145895383C>T	ENST00000311104.2	-	1	370	c.294G>A	c.(292-294)gcG>gcA	p.A98A		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	98						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A98A(3)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTGGAGTACGCCGTAGCTC	0.512000													37	144					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38791356	38791356	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:38791356C>A	ENST00000359357.3	+	26	3342	c.3088C>A	c.(3088-3090)Ccc>Acc	p.P1030T	DNAH8_ENST00000449981.2_Missense_Mutation_p.P1247T|DNAH8_ENST00000441566.1_Missense_Mutation_p.P1030T					dynein, axonemal, heavy chain 8									p.P1030T(4)		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						GGCTAACAACCCCTCTCTGAC	0.318000													67	90					2.61964e-41	4.41413e-41	1	1	0
MUC16	94025	broad.mit.edu	37	19	9089844	9089844	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:9089844C>A	ENST00000397910.4	-	1	2174	c.1971G>T	c.(1969-1971)aaG>aaT	p.K657N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	657	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.K657N(4)		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						CAGCAGCCGTCTTGCTCACTG	0.532000													126	886					4.38736e-65	8.13951e-65	1	1	0
SNTG1	54212	broad.mit.edu	37	8	51351136	51351136	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:51351136G>A	ENST00000522124.1	+	5	857	c.196G>A	c.(196-198)Gga>Aga	p.G66R	SNTG1_ENST00000276467.5_Missense_Mutation_p.G66R|SNTG1_ENST00000518864.1_Missense_Mutation_p.G66R|SNTG1_ENST00000517473.1_Missense_Mutation_p.G66R	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	66	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.G66R(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ACAAACAGTAGGAGGATTTGG	0.383000													50	87					0	0	1	0	0
TMEM106B	54664	broad.mit.edu	37	7	12270059	12270059	+	Silent	SNP	T	T	C	rs142177964		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:12270059T>C	ENST00000396667.2	+	7	949	c.627T>C	c.(625-627)taT>taC	p.Y209Y	TMEM106B_ENST00000396668.3_Silent_p.Y209Y	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	209						integral to membrane		p.Y209Y(2)		NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		AAATGAGTTATATGTAGTAAG	0.269000													148	164					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975892	76975892	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:76975892C>A	ENST00000409911.1	-	3	1928	c.1705G>T	c.(1705-1707)Gac>Tac	p.D569Y	LRRTM4_ENST00000409884.1_Missense_Mutation_p.D568Y|LRRTM4_ENST00000409093.1_Missense_Mutation_p.D568Y	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	568						integral to membrane		p.D568Y(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGCTGTGGTCTCGGCCCAGC	0.607000													21	211					8.28887e-21	1.17408e-20	1	1	0
SEMA3D	223117	broad.mit.edu	37	7	84669987	84669987	+	Splice_Site	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:84669987A>T	ENST00000284136.6	-	9	1090		c.e9+1		SEMA3D_ENST00000484038.1_Splice_Site	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D						cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.?(2)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGTTGAACATACCTGGTTGTA	0.318000													41	19					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113082754	113082754	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:113082754G>T	ENST00000409871.1	+	11	2467	c.2066G>T	c.(2065-2067)aGg>aTg	p.R689M	ZC3H6_ENST00000343936.4_Missense_Mutation_p.R689M	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	689							nucleic acid binding|zinc ion binding	p.R689M(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAACCTCATAGGGCACCAAGC	0.443000													20	157					2.27525e-19	3.14991e-19	1	1	0
CDH7	1005	broad.mit.edu	37	18	63527052	63527052	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:63527052G>T	ENST00000536984.2	+	10	2297	c.1603G>T	c.(1603-1605)Gat>Tat	p.D535Y	CDH7_ENST00000397968.2_Missense_Mutation_p.D535Y|CDH7_ENST00000323011.3_Missense_Mutation_p.D535Y			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	535	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D535Y(4)|p.L533_D535del(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTCATTGAAAGATAACAAAGG	0.368000													18	120					1.96292e-10	2.32097e-10	1	1	0
SAGE1	55511	broad.mit.edu	37	X	134992580	134992580	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:134992580C>A	ENST00000535938.1	+	16	2038	c.1871C>A	c.(1870-1872)gCa>gAa	p.A624E	SAGE1_ENST00000537770.1_Missense_Mutation_p.A248E|SAGE1_ENST00000370709.3_Missense_Mutation_p.A624E|SAGE1_ENST00000324447.3_Missense_Mutation_p.A624E	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	624								p.A624E(2)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCAGATGCTGCAGTCACTCAC	0.468000													145	104					1.22619e-59	2.21518e-59	1	1	0
SKP2	6502	broad.mit.edu	37	5	36152975	36152975	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:36152975G>T	ENST00000274255.6	+	2	307	c.111G>T	c.(109-111)ggG>ggT	p.G37G	SKP2_ENST00000508514.1_Silent_p.G37G|SKP2_ENST00000546211.1_5'UTR|SKP2_ENST00000274254.5_Silent_p.G37G	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	37					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.G37G(4)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGGCATGGGGGTCTCCGCCC	0.602000													46	48					1.19451e-25	1.77406e-25	1	1	0
TP53	7157	broad.mit.edu	37	17	7578556	7578556	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:7578556T>A	ENST00000420246.2	-	5	508		c.e5-2		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		AGGGGAGTACTGTAGGAAGAG	0.552000		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)			13	26					0	0	1	0	0
EVI2A	2123	broad.mit.edu	37	17	29645450	29645450	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:29645450G>T	ENST00000247270.3	-	3	987	c.651C>A	c.(649-651)gaC>gaA	p.D217E	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000462804.2_Missense_Mutation_p.D194E|EVI2A_ENST00000461237.1_Missense_Mutation_p.D194E|NF1_ENST00000581113.2_3'UTR|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.H134N	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	194						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)|p.D217E(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTTTCCAAGTGTCTGATTCAG	0.468000													46	43					1.7489e-18	2.39118e-18	1	1	0
FAM98A	25940	broad.mit.edu	37	2	33810355	33810355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:33810355C>A	ENST00000238823.8	-	8	1185	c.1045G>T	c.(1045-1047)Gga>Tga	p.G349*	FAM98A_ENST00000441530.2_Nonsense_Mutation_p.G154*|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	350	Gly-rich.							p.G349*(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCTCGTCCTCCGTATGAGGAA	0.597000													50	103					1.27334e-21	1.81764e-21	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	126139128	126139128	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:126139128G>A	ENST00000299308.3	+	9	3117	c.3109G>A	c.(3109-3111)Ggc>Agc	p.G1037S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G549S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1037						integral to membrane		p.G1037S(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCCAGAGGACGGCGGCCCATA	0.473000													9	204					0	0	1	0	0
P2RX2	22953	broad.mit.edu	37	12	133198443	133198443	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:133198443C>A	ENST00000389110.3	+	11	1338	c.1301C>A	c.(1300-1302)cCg>cAg	p.P434Q	P2RX2_ENST00000352418.4_Missense_Mutation_p.P362Q|P2RX2_ENST00000343948.4_Missense_Mutation_p.P460Q|P2RX2_ENST00000348800.5_Intron|P2RX2_ENST00000350048.5_Missense_Mutation_p.P410Q|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000351222.4_Missense_Mutation_p.P342Q	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	434					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	p.P460Q(2)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CCAGCCTTCCCGCCCCTGCGG	0.692000													5	8					0.014758	0.0152278	1	1	0
KCNK18	338567	broad.mit.edu	37	10	118969187	118969187	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:118969187T>C	ENST00000334549.1	+	3	532	c.532T>C	c.(532-534)Tcc>Ccc	p.S178P		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	178						integral to membrane|plasma membrane		p.S178P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCCCTCCTCTCCAAGTGGTG	0.512000													5	30					0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30629219	30629219	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:30629219C>A	ENST00000358107.4	-	4	880	c.881G>T	c.(880-882)cGg>cTg	p.R294L	MTPAP_ENST00000263063.3_Missense_Mutation_p.R164L|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	164					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	p.R294L(2)|p.R164L(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ATTACTTGACCGTACGCGTGA	0.403000													64	413					9.4991e-31	1.48272e-30	1	1	0
ZNF827	152485	broad.mit.edu	37	4	146823920	146823920	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:146823920T>A	ENST00000508784.1	-	2	718	c.491A>T	c.(490-492)cAg>cTg	p.Q164L	ZNF827_ENST00000379448.4_Missense_Mutation_p.Q164L|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	164				Q -> R (in Ref. 2; BAC03591).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q164L(4)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACTGAGCTGCTGGGCGTGGTG	0.537000													136	212					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21805115	21805115	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:21805115G>A	ENST00000399443.3	-	0	821				OSBPL1A_ENST00000357041.4_Missense_Mutation_p.R116C|OSBPL1A_ENST00000319481.3_Missense_Mutation_p.R498C	NM_018030.4	NP_060500.3	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A						cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	p.R498C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCAAAGGAGCGTGCTGTCACT	0.488000													7	253					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518829	108518829	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:108518829C>A	ENST00000375915.2	-	1	254	c.116G>T	c.(115-117)cGa>cTa	p.R39L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	39						integral to membrane	binding	p.R39L(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CAGAGACAGTCGCCATTTCTG	0.557000													27	79					2.08457e-15	2.69624e-15	1	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72520242	72520242	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:72520242C>T	ENST00000373208.1	+	22	3314	c.3314C>T	c.(3313-3315)cCt>cTt	p.P1105L	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P1102L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1102	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1105L(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGCcccaaccctggcccagac	0.637000													4	10					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48416095	48416095	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:48416095G>T	ENST00000435803.1	+	35	11285	c.11261G>T	c.(11260-11262)tGg>tTg	p.W3754L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3754					transport	integral to membrane	ATP binding|ATPase activity	p.W3699L(2)|p.W3754L(2)		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						ACATTTGGCTGGGTTTGCTGG	0.403000													145	381					1.65718e-73	3.15953e-73	1	1	0
CHCHD4	131474	broad.mit.edu	37	3	14154566	14154566	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:14154566C>T	ENST00000295767.5	-	4	613	c.289G>A	c.(289-291)Ggg>Agg	p.G97R	CHCHD4_ENST00000396914.3_Missense_Mutation_p.G84R	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	84	CHCH.				protein transport|transmembrane transport	mitochondrial intermembrane space		p.G97R(2)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CAGTCTGACCCCTTGATCTCC	0.537000													4	76					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108638599	108638599	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:108638599G>T	ENST00000218006.2	-	12	2686	c.2395C>A	c.(2395-2397)Cga>Aga	p.R799R		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	799	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.R799R(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAAGTTGGTCGTTGTTCTGCA	0.502000													192	144					1.0559e-105	2.11564e-105	1	1	0
OR5L1	219437	broad.mit.edu	37	11	55579661	55579661	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:55579661C>A	ENST00000333973.2	+	1	808	c.719C>A	c.(718-720)aCc>aAc	p.T240N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T240N(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCCTTCTCCACCTGTGCTTCC	0.507000													156	170					3.42953e-66	6.38403e-66	1	1	0
TDRD1	56165	broad.mit.edu	37	10	115973156	115973156	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:115973156A>G	ENST00000251864.2	+	15	2036	c.1883A>G	c.(1882-1884)aAa>aGa	p.K628R	TDRD1_ENST00000369280.1_Missense_Mutation_p.K628R|TDRD1_ENST00000422662.1_Missense_Mutation_p.K232R|TDRD1_ENST00000369281.2_Missense_Mutation_p.K571R|TDRD1_ENST00000369282.1_Missense_Mutation_p.K628R	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	628					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.K628R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGTCTCATGAAAAAACTTGTA	0.363000													19	161					0	0	1	0	0
RSAD2	91543	broad.mit.edu	37	2	7036027	7036027	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:7036027G>A	ENST00000382040.3	+	6	1176	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	RSAD2_ENST00000541728.1_Missense_Mutation_p.G240E	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	347					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	p.G347E(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CTGAAGCGAGGAGGAAAATAC	0.443000													67	87					0	0	1	0	0
MIR517B	574483	broad.mit.edu	37	19	54224383	54224383	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:54224383C>A	ENST00000385102.1	+	0	54					NR_030205.1																						TCGTGCATCCCTTTAGAGTGT	0.423000													51	347					3.89483e-19	5.36513e-19	1	1	0
RLN2	6019	broad.mit.edu	37	9	5300244	5300244	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:5300244T>A	ENST00000381627.3	-	2	800	c.412A>T	c.(412-414)Agt>Tgt	p.S138C	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	138					female pregnancy	extracellular region	hormone activity	p.S138C(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		GCGGCTTCACTTTGTCTATTG	0.378000													62	290					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39734030	39734030	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:39734030C>A	ENST00000395670.3	-	16	2666	c.2247G>T	c.(2245-2247)caG>caT	p.Q749H	KIF21A_ENST00000361418.5_Missense_Mutation_p.Q749H|KIF21A_ENST00000544797.2_Missense_Mutation_p.Q736H|KIF21A_ENST00000541463.2_Missense_Mutation_p.Q736H|KIF21A_ENST00000361961.3_Missense_Mutation_p.Q736H			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	749					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.Q736H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CATACTGAGACTGATTTTTAA	0.338000													50	170					4.79706e-38	7.93748e-38	1	1	0
HGF	3082	broad.mit.edu	37	7	81335640	81335640	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:81335640G>T	ENST00000222390.5	-	15	1946	c.1720C>A	c.(1720-1722)Cct>Act	p.P574T	HGF_ENST00000457544.2_Missense_Mutation_p.P569T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	574	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.P574T(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GATCCTTCAGGGCCATATACC	0.398000													131	62					2.33983e-75	4.49215e-75	1	1	0
CD40LG	959	broad.mit.edu	37	X	135741330	135741330	+	Missense_Mutation	SNP	G	G	T	rs11575982	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:135741330G>T	ENST00000370629.2	+	5	598	c.542G>T	c.(541-543)cGg>cTg	p.R181L	CD40LG_ENST00000370628.2_Missense_Mutation_p.R160L	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	181					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	p.R181L(2)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	TGTTCCAATCGGGAAGCTTCG	0.463000									Immune Deficiency with Hyper-IgM				1152	792					7.1345e-281	1.48344e-280	1	1	0
POLG	5428	broad.mit.edu	37	15	89862224	89862224	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:89862224G>A	ENST00000268124.5	-	20	3544	c.3211C>T	c.(3211-3213)Cgt>Tgt	p.R1071C	POLG_ENST00000442287.2_Missense_Mutation_p.R1071C	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1071					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	p.R1071C(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ACCGGGGTACGTGGTATGTCA	0.587000								DNA polymerases (catalytic subunits)					22	55					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32667152	32667152	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:32667152T>A	ENST00000421745.2	+	18	4098	c.3964T>A	c.(3964-3966)Tta>Ata	p.L1322I		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1322					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.L1322I(2)|p.L1294I(2)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGTGCCATGTTACAGTTTTC	0.383000													21	91					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123105065	123105065	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:123105065T>A	ENST00000466202.1	-	10	2158		c.e10-2		IQUB_ENST00000324698.6_Splice_Site|IQUB_ENST00000434450.1_Splice_Site			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing									p.?(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTCATGTTCCTATATAAAACA	0.308000													99	94					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123870955	123870955	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:123870955G>T	ENST00000422452.2	-	4	691	c.628C>A	c.(628-630)Ccc>Acc	p.P210T	TENM1_ENST00000371130.3_Missense_Mutation_p.P210T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.P212T(2)									GCTGCAGGGGGTGGCTTCCTG	0.622000													72	61					5.29578e-48	9.20497e-48	1	1	0
SLC28A3	64078	broad.mit.edu	37	9	86912912	86912912	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:86912912C>A	ENST00000376238.4	-	7	741	c.692G>T	c.(691-693)tGg>tTg	p.W231L	SLC28A3_ENST00000537648.1_Missense_Mutation_p.W162L	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	231					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	p.W231L(2)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CCCGATTCCCCATAAGACAGG	0.418000													26	136					5.45727e-16	7.14241e-16	1	1	0
SPATA18	132671	broad.mit.edu	37	4	52944926	52944926	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:52944926C>A	ENST00000295213.4	+	8	1420	c.1046C>A	c.(1045-1047)gCa>gAa	p.A349E	SPATA18_ENST00000419395.2_Missense_Mutation_p.A317E	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	349					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.A349E(4)		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)			GCAAAAATGGCATTCAGACAC	0.383000													110	390					4.03838e-40	6.76337e-40	1	1	0
C1QTNF1	114897	broad.mit.edu	37	17	77044101	77044101	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:77044101C>A	ENST00000339142.2	+	5	1332	c.777C>A	c.(775-777)atC>atA	p.I259I	C1QTNF1_ENST00000354124.3_Silent_p.I269I|C1QTNF1_ENST00000311661.4_Silent_p.I177I|C1QTNF1_ENST00000583904.1_Silent_p.I259I|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000581774.1_Silent_p.I259I|C1QTNF1_ENST00000580454.1_Silent_p.I259I|C1QTNF1_ENST00000580474.1_Silent_p.I259I|C1QTNF1_ENST00000579760.1_Silent_p.I259I|C1QTNF1_ENST00000578229.1_Silent_p.I177I|C1QTNF1_ENST00000392445.2_Silent_p.I259I	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	259	C1q.					collagen		p.I177I(2)|p.I259I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AGAACGCCATCTTCAGCGAGG	0.622000													81	73					5.42582e-32	8.64054e-32	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5239326	5239326	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:5239326C>T	ENST00000274181.7	+	15	2355	c.2217C>T	c.(2215-2217)aaC>aaT	p.N739N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	739	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N739N(4)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGGTGTGTAACGGGAATAACT	0.512000													261	1577					0	0	1	0	0
TSGA13	114960	broad.mit.edu	37	7	130353924	130353924	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:130353924G>T	ENST00000456951.1	-	9	1609	c.758C>A	c.(757-759)cCc>cAc	p.P253H	TSGA13_ENST00000356588.3_Missense_Mutation_p.P253H			Q96PP4	TSG13_HUMAN	testis specific, 13	253								p.P253H(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GCTCTCCCCGGGCGCGGTTCT	0.597000													45	42					2.55665e-31	4.00202e-31	1	1	0
ZNF611	81856	broad.mit.edu	37	19	53208882	53208882	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:53208882C>T	ENST00000543227.1	-	6	1700	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	ZNF611_ENST00000540744.1_Missense_Mutation_p.D476N|ZNF611_ENST00000453741.2_Missense_Mutation_p.D407N|ZNF611_ENST00000595798.1_Missense_Mutation_p.D407N|ZNF611_ENST00000319783.1_Missense_Mutation_p.D476N|ZNF611_ENST00000602162.1_Missense_Mutation_p.D407N	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D476N(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCTCCACAGTCAATTCTAGTA	0.378000													24	123					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048891	6048891	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:6048891G>T	ENST00000316650.5	-	1	80	c.44C>A	c.(43-45)cCa>cAa	p.P15Q		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P15Q(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCAGAGACTGGGACAGTGGA	0.522000													312	432					3.67166e-174	7.5771e-174	1	1	0
PLXDC1	57125	broad.mit.edu	37	17	37264449	37264449	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:37264449C>A	ENST00000315392.4	-	5	730	c.519G>T	c.(517-519)caG>caT	p.Q173H	PLXDC1_ENST00000539608.1_Missense_Mutation_p.Q100H|PLXDC1_ENST00000394316.2_Missense_Mutation_p.Q173H|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.Q133H	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	173					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		p.Q173H(2)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCGCCACATACTGAGTAGCTG	0.537000													138	145					3.53118e-72	6.68618e-72	1	1	0
NLRC3	197358	broad.mit.edu	37	16	3615000	3615000	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:3615000C>A	ENST00000301749.7	-	0	443				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	p.G60V(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGGCCCTGGCCGGCCTCCCT	0.687000													5	1					0.0293803	0.0297584	1	1	0
CDH20	28316	broad.mit.edu	37	18	59217422	59217422	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:59217422C>A	ENST00000262717.4	+	11	2258	c.1860C>A	c.(1858-1860)ggC>ggA	p.G620G	CDH20_ENST00000538374.1_Silent_p.G620G|CDH20_ENST00000536675.2_Silent_p.G620G			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	620					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G620G(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGAGCCGGGGCGCCCTCATTG	0.582000													11	91					0.000978159	0.00103448	1	1	0
MED23	9439	broad.mit.edu	37	6	131912668	131912668	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:131912668C>A	ENST00000403834.3	-	26	3663		c.e26-1		MED23_ENST00000368058.1_Splice_Site|MED23_ENST00000354577.4_Splice_Site|MED23_ENST00000368060.3_Splice_Site|MED23_ENST00000479213.1_Splice_Site|MED23_ENST00000368068.3_Splice_Site|MED23_ENST00000545957.1_Splice_Site			Q9ULK4	MED23_HUMAN	mediator complex subunit 23						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.?(4)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AATATGGCTCCTTTAAAATCG	0.403000													43	65					1.32136e-16	1.75016e-16	1	1	0
NRCAM	4897	broad.mit.edu	37	7	107830179	107830179	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:107830179G>T	ENST00000379028.3	-	20	2415	c.1945C>A	c.(1945-1947)Cct>Act	p.P649T	NRCAM_ENST00000379024.4_Missense_Mutation_p.P630T|NRCAM_ENST00000379022.4_Missense_Mutation_p.P649T|NRCAM_ENST00000425651.2_Missense_Mutation_p.P649T|NRCAM_ENST00000351718.4_Missense_Mutation_p.P633T|NRCAM_ENST00000413765.2_Missense_Mutation_p.P630T			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	649	Fibronectin type-III 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.P649T(2)|p.P633T(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCAAAGGGAGGATTTGGGACA	0.448000													137	109					7.03087e-97	1.38853e-96	1	1	0
RSPH4A	345895	broad.mit.edu	37	6	116938033	116938033	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:116938033G>T	ENST00000229554.5	+	1	384	c.247G>T	c.(247-249)Gct>Tct	p.A83S	RSPH4A_ENST00000368580.4_Missense_Mutation_p.A83S|RSPH4A_ENST00000368581.4_Missense_Mutation_p.A83S	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	83					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.A83S(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATCATCACCTGCTCCTGTCTC	0.647000									Kartagener syndrome				26	35					5.60225e-13	6.89027e-13	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117061553	117061553	+	Splice_Site	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:117061553C>G	ENST00000355044.3	+	17	2944	c.2818_splice	c.e17+1	p.P940_splice	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Splice_Site_p.P37_splice	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	940						integral to membrane	sugar binding	p.P940A(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CACCTGCTCCCGTAAGTATTT	0.358000													69	322					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100606797	100606797	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:100606797C>A	ENST00000319509.7	+	4	1887	c.1887C>A	c.(1885-1887)tcC>tcA	p.S629S						mucin 3A, cell surface associated									p.S629S(4)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AGATCCTGTCCCTGAGGTAGG	0.507000													5	6					8.12818e-05	8.74732e-05	1	1	0
LYZL2	119180	broad.mit.edu	37	10	30918543	30918543	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:30918543C>A	ENST00000375318.2	-	1	148	c.92G>T	c.(91-93)gGc>gTc	p.G31V		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.G31V(2)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				ATTCCTGGTGCCTGCCGCAGA	0.522000													47	142					4.1673e-28	6.36062e-28	1	1	0
SLC14A2	8170	broad.mit.edu	37	18	43249375	43249375	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:43249375G>C	ENST00000255226.6	+	16	2957	c.2141G>C	c.(2140-2142)gGc>gCc	p.G714A	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.G191A|SLC14A2_ENST00000586448.1_Missense_Mutation_p.G714A	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	714						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.G714A(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGCCACGGGCCACTACAAC	0.557000													123	399					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50900255	50900255	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:50900255C>A	ENST00000380817.2	-	21	2796	c.2613G>T	c.(2611-2613)cgG>cgT	p.R871R	SBF1_ENST00000390679.3_Silent_p.R871R|SBF1_ENST00000348911.6_Silent_p.R872R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	871					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	p.R871R(4)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGGCTCTCCCGCTGCACGG	0.647000													8	9					0.00829132	0.00860361	1	1	0
TYRP1	7306	broad.mit.edu	37	9	12708116	12708116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:12708116G>T	ENST00000388918.5	+	7	1510	c.1381G>T	c.(1381-1383)Gga>Tga	p.G461*	TYRP1_ENST00000381136.2_Nonsense_Mutation_p.G171*|TYRP1_ENST00000381137.2_Nonsense_Mutation_p.G170*|TYRP1_ENST00000473504.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	461					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.G461*(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AGACAACCTGGGATACACTTA	0.388000									Oculocutaneous Albinism				47	118					9.86064e-34	1.59332e-33	1	1	0
BAI1	575	broad.mit.edu	37	8	143623594	143623594	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:143623594G>T	ENST00000517894.1	+	28	4893	c.3999G>T	c.(3997-3999)ctG>ctT	p.L1333L	BAI1_ENST00000323289.5_Silent_p.L1333L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1333					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.L1333L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACTCGGAGCTGAGCCGGGCCC	0.642000													16	9					8.04996e-18	1.09249e-17	1	1	0
DAOA-AS1	282706	broad.mit.edu	37	13	106118506	106118506	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:106118506C>A	ENST00000448407.1	-	0	739					NR_040247.1																						gagctacaccccaaattagtg	0.428000													6	4					0.0215528	0.0219512	1	1	0
SLC5A9	200010	broad.mit.edu	37	1	48694626	48694626	+	Splice_Site	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:48694626C>T	ENST00000236495.5	+	3	389	c.339_splice	c.e3+1	p.N113_splice	RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000420136.2_Splice_Site_p.N106_splice|SLC5A9_ENST00000533824.1_Splice_Site_p.N113_splice|SLC5A9_ENST00000438567.2_Splice_Site_p.N113_splice	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	113						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	p.N106N(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TCGAGTGGAACGTAAGGAAGC	0.582000													9	159					0	0	1	0	0
ISYNA1	51477	broad.mit.edu	37	19	18546722	18546722	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:18546722T>C	ENST00000545187.1	-	5	821	c.535A>G	c.(535-537)Atc>Gtc	p.I179V	ISYNA1_ENST00000338128.7_Missense_Mutation_p.I329V|ISYNA1_ENST00000457269.3_Missense_Mutation_p.I275V|ISYNA1_ENST00000578963.1_Missense_Mutation_p.I201V|ISYNA1_ENST00000317018.6_Missense_Mutation_p.I127V			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	329					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	p.I329V(2)		breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TAACTCACGATGGACATGGTC	0.627000													10	22					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48654949	48654949	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:48654949G>A	ENST00000435803.1	+	59	14837	c.14813G>A	c.(14812-14814)gGt>gAt	p.G4938D	ABCA13_ENST00000544596.1_Missense_Mutation_p.G668D	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4938	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.G4883D(1)|p.G4938D(1)		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						AAATGTCTTGGTTCTCCTCAG	0.418000													10	36					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418193	38418193	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:38418193G>T	ENST00000322350.5	+	12	1866	c.1520G>T	c.(1519-1521)cGg>cTg	p.R507L	EGFLAM_ENST00000354891.3_Missense_Mutation_p.R507L|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R273L|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	507	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.R507L(4)		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)					ATTACTTTCCGGACACCTCTC	0.453000													87	274					2.64469e-62	4.82525e-62	1	1	0
TMEM143	55260	broad.mit.edu	37	19	48845850	48845850	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:48845850G>A	ENST00000293261.3	-	6	1228	c.912C>T	c.(910-912)ctC>ctT	p.L304L	TMEM143_ENST00000435956.3_Silent_p.L269L|TMEM143_ENST00000436660.2_Silent_p.L239L|TMEM143_ENST00000377431.2_Silent_p.L204L|TMEM143_ENST00000541566.1_Silent_p.L194L	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	304						integral to membrane|mitochondrion		p.L304L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TGGCCACCTTGAGGTCGGTTA	0.672000													25	90					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319419	31319419	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:31319419C>A	ENST00000269197.5	+	11	2051	c.2051C>A	c.(2050-2052)tCc>tAc	p.S684Y		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	684	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.S391Y(2)|p.S684Y(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTCCAATATCCACTTCACCT	0.363000													77	110					2.73218e-42	4.6321e-42	1	1	0
PGLYRP4	57115	broad.mit.edu	37	1	153312856	153312856	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:153312856C>A	ENST00000368739.3	-	7	1171		c.e7+1		PGLYRP4_ENST00000359650.5_Splice_Site			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4						defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.?(3)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACCCACTCACTTATAACCAA	0.512000													138	203					3.14662e-72	5.97857e-72	1	1	0
DMP1	1758	broad.mit.edu	37	4	88584230	88584230	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:88584230C>A	ENST00000339673.6	+	6	1399	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K	RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.Q418K|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	434					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.Q434K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GGAGGGCCTCCAGTCTCACAG	0.547000													52	121					8.99859e-20	1.25208e-19	1	1	0
FBLN2	2199	broad.mit.edu	37	3	13679148	13679148	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:13679148C>T	ENST00000404922.3	+	18	3544	c.3425C>T	c.(3424-3426)aCg>aTg	p.T1142M	FBLN2_ENST00000295760.7_Missense_Mutation_p.T1095M|FBLN2_ENST00000492059.1_Missense_Mutation_p.T1142M|FBLN2_ENST00000535798.1_Missense_Mutation_p.T1121M	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1095	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.T561M(2)|p.T1142M(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AACTTCCAGACGGGCCTCCTG	0.627000													17	23					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10420009	10420009	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:10420009G>A	ENST00000397077.1	-	9	1568	c.993C>T	c.(991-993)gcC>gcT	p.A331A	ATP2B2_ENST00000352432.4_Silent_p.A376A|ATP2B2_ENST00000343816.4_Silent_p.A362A|ATP2B2_ENST00000360273.2_Silent_p.A376A|ATP2B2_ENST00000383800.4_Silent_p.A331A			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	376					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.A376A(2)|p.A331A(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGTGCATGCTGGCCTTCTTCC	0.647000													16	71					0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87018101	87018101	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:87018101C>A	ENST00000398399.2	-	3	939	c.576G>T	c.(574-576)ctG>ctT	p.L192L	VGLL3_ENST00000383698.3_Silent_p.L192L	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.L192L(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGTCTGATGCAGGTTGTGTC	0.582000													24	126					2.70662e-09	3.13968e-09	1	1	0
LINC00969	440993	broad.mit.edu	37	3	195410689	195410689	+	RNA	SNP	C	C	T	rs6583275	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:195410689C>T	ENST00000445430.1	+	0	1886																											CTTTGAGGTGCACTGGAGGAA	0.567000													3	33					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29107532	29107532	+	RNA	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:29107532T>A	ENST00000564580.1	+	0	924																		p.A285A(2)									GGCAGGCTGCTGGAAATTATA	0.373000													11	41					0	0	1	0	0
DDIT3	1649	broad.mit.edu	37	12	57910683	57910683	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:57910683C>A	ENST00000551116.1	-	4	755	c.488G>T	c.(487-489)cGg>cTg	p.R163L	DDIT3_ENST00000346473.3_Missense_Mutation_p.R140L|DDIT3_ENST00000552740.1_Missense_Mutation_p.R163L|DDIT3_ENST00000547303.1_Missense_Mutation_p.R140L	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	140					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	p.R140L(2)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						CTGCTTGAGCCGTTCATTCTC	0.537000			T	FUS	liposarcoma								35	87					4.34311e-12	5.27104e-12	1	1	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		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)		agcagcagcagcaacaacagc	0.562000													5	23					0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186335082	186335082	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:186335082C>A	ENST00000411641.2	+	4	735	c.516C>A	c.(514-516)aaC>aaA	p.N172K	AHSG_ENST00000273784.5_Missense_Mutation_p.N173K			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	172	Cystatin fetuin-A-type 2.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).	acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	p.N172K(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCGCCTTCAACGCTCAGAACA	0.602000											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	163					1.45844e-13	1.80584e-13	1	1	0
OR2M2	391194	broad.mit.edu	37	1	248343333	248343333	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:248343333G>T	ENST00000359682.2	+	1	46	c.46G>T	c.(46-48)Gga>Tga	p.G16*		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATCCTCCTTGGAATCTTCAA	0.438000													149	881					1.46925e-46	2.52198e-46	1	1	0
SUN1	23353	broad.mit.edu	37	7	912908	912908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:912908G>A	ENST00000456758.2	+	25	2865	c.2865G>A	c.(2863-2865)tgG>tgA	p.W955*	SUN1_ENST00000389574.3_Nonsense_Mutation_p.W683*|SUN1_ENST00000401592.1_Nonsense_Mutation_p.W766*|SUN1_ENST00000413514.2_Nonsense_Mutation_p.W564*|SUN1_ENST00000425407.2_Nonsense_Mutation_p.W683*|SUN1_ENST00000405266.1_Nonsense_Mutation_p.W803*|SUN1_ENST00000452783.2_Nonsense_Mutation_p.W663*			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	793					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	p.W766*(2)|p.W683*(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCTAACTGGGGCCATCCTG	0.388000											OREG0017816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	137					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237540714	237540714	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:237540714C>G	ENST00000366574.2	+	8	872	c.555C>G	c.(553-555)agC>agG	p.S185R	RYR2_ENST00000542537.1_Missense_Mutation_p.S169R|RYR2_ENST00000360064.6_Missense_Mutation_p.S183R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	185	MIR 2.				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	p.S183R(2)		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)			TCTTAGTTAGCGTGTCCTCTG	0.423000													83	103					0	0	1	0	0
FAM124A	220108	broad.mit.edu	37	13	51855350	51855350	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:51855350G>A	ENST00000322475.8	+	4	1734	c.1599G>A	c.(1597-1599)tcG>tcA	p.S533S	FAM124A_ENST00000280057.6_Silent_p.S569S	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	533								p.S569S(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCCCAGGGTCGGCTGGCCCCG	0.577000													49	93					0	0	1	0	0
AKR1E2	83592	broad.mit.edu	37	10	4875556	4875556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:4875556C>A	ENST00000298375.7	+	3	293	c.222C>A	c.(220-222)tgC>tgA	p.C74*	AKR1E2_ENST00000532248.1_Nonsense_Mutation_p.C74*|AKR1E2_ENST00000345253.5_Nonsense_Mutation_p.C74*|AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000334019.4_Nonsense_Mutation_p.C74*	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	74						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.C74*(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						GGTGCACCTGCCATAAGAAGT	0.532000													26	55					4.74835e-14	6.02844e-14	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32633201	32633201	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:32633201G>T	ENST00000242310.4	-	1	2466	c.2377C>A	c.(2377-2379)Cgg>Agg	p.R793R		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	793					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R793R(2)|p.R793W(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACTAATTCCCGAATATAGTAA	0.438000													50	242					2.17126e-26	3.25099e-26	1	1	0
UGT1A10	54575	broad.mit.edu	37	2	234545808	234545808	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:234545808T>A	ENST00000344644.5	+	1	709	c.640T>A	c.(640-642)Ttg>Atg	p.L214M	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.L214M	NM_019075.2	NP_061948.1												p.L214M(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		CATCGTGCACTTGGAGGACCA	0.453000													157	781					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50586248	50586248	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:50586248G>A	ENST00000547825.1	-	3	1490	c.221C>T	c.(220-222)cCc>cTc	p.P74L	LIMA1_ENST00000394943.3_Missense_Mutation_p.P377L|LIMA1_ENST00000341247.4_Missense_Mutation_p.P376L|LIMA1_ENST00000552823.1_Missense_Mutation_p.P216L|LIMA1_ENST00000552909.1_Missense_Mutation_p.P216L|LIMA1_ENST00000552783.1_Missense_Mutation_p.P217L|LIMA1_ENST00000552491.1_Missense_Mutation_p.P74L|LIMA1_ENST00000552008.1_5'UTR	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	376					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.P376I(2)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CATTGCTTTGGGAGGAGAACT	0.448000													37	91					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851670	14851670	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:14851670G>C	ENST00000358984.4	+	36	3550	c.3370G>C	c.(3370-3372)Gct>Cct	p.A1124P		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1209								p.A1124P(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAAAGAATGCTGAACTTCA	0.373000													6	44					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55593452	55593452	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:55593452T>A	ENST00000288135.5	+	10	1706	c.1609T>A	c.(1609-1611)Tgc>Agc	p.C537S		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	537					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	p.C537S(2)		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)	TGGCATGATGTGCATTATTGT	0.383000		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				206	594					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42988648	42988648	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:42988648G>T	ENST00000253408.5	-	6	1148	c.1083C>A	c.(1081-1083)atC>atA	p.I361I	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.I361I|GFAP_ENST00000435360.2_Silent_p.I361I	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	361	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.I361I(4)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGCGATCTCGATGTCCAGGG	0.632000													23	34					9.86323e-18	1.33529e-17	1	1	0
IL3RA	3563	broad.mit.edu	37	X	1460672	1460672	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:1460672G>T	ENST00000331035.4	+	2	363	c.14G>T	c.(13-15)tGg>tTg	p.W5L	IL3RA_ENST00000381469.2_Missense_Mutation_p.W5L	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	5						integral to membrane|plasma membrane	interleukin-3 receptor activity	p.W5L(2)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTCCTCCTTTGGCTCACGCTG	0.607000													66	91					7.33394e-39	1.21717e-38	1	1	0
TET1	80312	broad.mit.edu	37	10	70405010	70405010	+	Missense_Mutation	SNP	A	A	G	rs77500190		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:70405010A>G	ENST00000373644.4	+	4	2733	c.2524A>G	c.(2524-2526)Atc>Gtc	p.I842V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	842					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.I842V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTCACACTCCATCATAAATCA	0.398000													133	407					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128452070	128452070	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:128452070G>T	ENST00000297788.4	+	13	2612	c.2245G>T	c.(2245-2247)Ggt>Tgt	p.G749C	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	749						integral to membrane	protein binding	p.G749F(4)|p.G749S(2)|p.G865F(2)|p.G865S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAAGAGCTATGGTAGCATGGT	0.498000													103	113					5.16181e-52	9.05782e-52	1	1	0
PZP	5858	broad.mit.edu	37	12	9301592	9301592	+	Splice_Site	SNP	T	T	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:9301592T>G	ENST00000261336.2	-	36	4455		c.e36-2		PZP_ENST00000381997.2_Splice_Site	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.?(4)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GCTCTGTATCTATGGAGAAAA	0.413000													56	112					0	0	1	0	0
FRG1	2483	broad.mit.edu	37	4	190876250	190876250	+	Missense_Mutation	SNP	G	G	T	rs146824996	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:190876250G>T	ENST00000226798.4	+	5	598	c.376G>T	c.(376-378)Gtt>Ttt	p.V126F	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	126					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.V126F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGGACTTGTTGTTGGGCGTTC	0.353000													11	148					4.7546e-09	5.49222e-09	1	1	0
FGD6	55785	broad.mit.edu	37	12	95602937	95602937	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:95602937C>A	ENST00000343958.4	-	2	2346	c.2123G>T	c.(2122-2124)cGg>cTg	p.R708L	FGD6_ENST00000549499.1_Missense_Mutation_p.R708L|FGD6_ENST00000546711.1_Missense_Mutation_p.R708L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	708					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.R708L(2)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGTCTGGCCCCGAGACTTCTT	0.478000													31	55					1.45844e-13	1.80584e-13	1	1	0
P4HTM	54681	broad.mit.edu	37	3	49027918	49027918	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:49027918G>A	ENST00000343546.4	+	1	597	c.229G>A	c.(229-231)Gcg>Acg	p.A77T	P4HTM_ENST00000383729.4_Missense_Mutation_p.A77T	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	77						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.A77T(2)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TAACGTGCTGGCGCTGCTGCT	0.682000													5	12					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407380	105407380	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:105407380G>C	ENST00000333244.5	-	7	14527	c.14408C>G	c.(14407-14409)gCc>gGc	p.A4803G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4803						nucleus		p.A4803G(2)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGGGCCAAGGCAGCTCTGGG	0.517000													6	13					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064372	7064372	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:7064372G>T	ENST00000299481.4	+	4	1461	c.1115G>T	c.(1114-1116)tGc>tTc	p.C372F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	372	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.C372F(2)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCCCTAGTGTGCTGGGCCGCT	0.443000													71	336					1.59627e-33	2.56427e-33	1	1	0
ZNF135	7694	broad.mit.edu	37	19	58579730	58579730	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:58579730G>A	ENST00000506786.1	+	5	2306	c.1752G>A	c.(1750-1752)agG>agA	p.R584R	ZNF135_ENST00000401053.4_Silent_p.R650R|ZNF135_ENST00000439855.2_Silent_p.R626R|ZNF135_ENST00000511556.1_Silent_p.R638R|ZNF135_ENST00000313434.5_Silent_p.R626R|ZNF135_ENST00000359978.6_Intron			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	638					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R650K(2)|p.R626K(2)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGCACCGGAGGATCCACACAG	0.542000													9	72					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56516040	56516040	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:56516040G>A	ENST00000370754.5	-	10	1117	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L	DST_ENST00000370788.2_Missense_Mutation_p.P195L|DST_ENST00000421834.2_Missense_Mutation_p.P195L|DST_ENST00000361203.3_Missense_Mutation_p.P195L|DST_ENST00000312431.6_Missense_Mutation_p.P195L|DST_ENST00000370769.4_Missense_Mutation_p.P195L			Q03001	DYST_HUMAN	dystonin	195					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.P195M(2)|p.P373M(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATCAGGTCCGGCCTAGGAAA	0.328000													19	26					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216369952	216369952	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:216369952G>T	ENST00000366943.2	-	19	4580	c.4194C>A	c.(4192-4194)gaC>gaA	p.D1398E	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.D1398E|USH2A_ENST00000307340.3_Missense_Mutation_p.D1398E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1398	Fibronectin type-III 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D1398E(2)		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)		GCATATTGATGTCATACCCCA	0.413000										HNSCC(13;0.011)			127	247					3.67065e-75	7.02266e-75	1	1	0
WDR7	23335	broad.mit.edu	37	18	54694337	54694337	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:54694337G>T	ENST00000254442.3	+	28	4583	c.4372G>T	c.(4372-4374)Ggc>Tgc	p.G1458C	WDR7_ENST00000357574.3_Missense_Mutation_p.G1425C|WDR7_ENST00000589935.1_Missense_Mutation_p.G35C	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1458								p.G1458C(2)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CGCGTCCCCCGGCTCCCACAA	0.617000													10	48					5.50884e-06	6.07074e-06	1	1	0
LTF	4057	broad.mit.edu	37	3	46496816	46496816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:46496816C>A	ENST00000231751.4	-	5	911	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	LTF_ENST00000417439.1_Nonsense_Mutation_p.E206*|LTF_ENST00000426532.2_Nonsense_Mutation_p.E162*	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	206	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.Q205_E206>H*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AAGTACGGTTCCTGGGAGGAG	0.582000													36	106					1.07121e-22	1.55325e-22	1	1	0
C2orf71	388939	broad.mit.edu	37	2	29295827	29295827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:29295827C>A	ENST00000331664.5	-	1	1300	c.1301G>T	c.(1300-1302)tGc>tTc	p.C434F		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	434					response to stimulus|visual perception	photoreceptor outer segment		p.C434F(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACTGGAGAGGCATGGGCTCCT	0.567000													28	21					1.68575e-08	1.93511e-08	1	1	0
PRKCB	5579	broad.mit.edu	37	16	24166178	24166178	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:24166178G>T	ENST00000303531.7	+	10	1391	c.1239_splice	c.e10+1	p.M413_splice	PRKCB_ENST00000321728.7_Splice_Site_p.M413_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	413	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.M413N(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCCAGACCATGGTAACTTGTC	0.582000													47	39					1.44317e-28	2.215e-28	1	1	0
SPATA5	166378	broad.mit.edu	37	4	123868550	123868550	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:123868550C>T	ENST00000274008.3	+	9	1690	c.1621C>T	c.(1621-1623)Ccc>Tcc	p.P541S	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	541					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	p.P541S(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCGAAGGGTACCCCATTTGCT	0.493000													101	239					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154411267	154411267	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:154411267C>A	ENST00000414028.2	+	2	647	c.597C>A	c.(595-597)gcC>gcA	p.A199A	OPRM1_ENST00000522236.1_Silent_p.A99A|OPRM1_ENST00000360422.4_Silent_p.A199A|OPRM1_ENST00000524163.1_Silent_p.A199A|OPRM1_ENST00000428397.2_Silent_p.A199A|OPRM1_ENST00000330432.7_Silent_p.A199A|OPRM1_ENST00000434900.2_Silent_p.A292A|OPRM1_ENST00000518759.1_Silent_p.A118A|OPRM1_ENST00000520708.1_Silent_p.A99A|OPRM1_ENST00000522555.1_Silent_p.A99A|OPRM1_ENST00000435918.2_Silent_p.A199A|OPRM1_ENST00000419506.2_Silent_p.A199A|OPRM1_ENST00000229768.5_Silent_p.A199A|OPRM1_ENST00000337049.4_Silent_p.A199A|OPRM1_ENST00000452687.2_Silent_p.A199A	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	199					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.A199A(4)|p.A292A(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCTCTTCAGCCATTGGTCTTC	0.468000													109	144					6.1095e-40	1.0201e-39	1	1	0
ARHGAP6	395	broad.mit.edu	37	X	11196361	11196361	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:11196361C>T	ENST00000337414.4	-	8	2360	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E	ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380732.3_Silent_p.E528E|ARHGAP6_ENST00000534860.1_Silent_p.E321E|ARHGAP6_ENST00000303025.6_Silent_p.E293E|ARHGAP6_ENST00000413512.3_Silent_p.E305E|ARHGAP6_ENST00000380736.1_Silent_p.E293E|ARHGAP6_ENST00000380718.1_Silent_p.E496E	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	496	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.E496E(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTTCCTCCGGCTCCAACACTA	0.522000													16	32					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52788890	52788890	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:52788890C>A	ENST00000257974.2	-	9	1488	c.1411G>T	c.(1411-1413)Ggc>Tgc	p.G471C	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	471	Tail.					keratin filament	protein binding|structural constituent of epidermis	p.G471C(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		ATGCTGCAGCCCCCATTGCTC	0.632000													6	37					2.0095e-06	2.23683e-06	1	1	0
SNPH	9751	broad.mit.edu	37	20	1286120	1286120	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:1286120G>T	ENST00000381867.1	+	7	1681	c.1039G>T	c.(1039-1041)Ggt>Tgt	p.G347C	SNPH_ENST00000381873.3_Missense_Mutation_p.G303C			O15079	SNPH_HUMAN	syntaphilin	303					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	p.G303C(2)|p.G347C(2)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CATGGAGGCTGGTGTGCAGGC	0.627000													14	16					6.49762e-13	7.95597e-13	1	1	0
KCNK3	3777	broad.mit.edu	37	2	26950707	26950707	+	Silent	SNP	C	C	T	rs112956865		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:26950707C>T	ENST00000302909.3	+	2	581	c.456C>T	c.(454-456)gcC>gcT	p.A152A		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	152					synaptic transmission	integral to plasma membrane		p.A152A(1)		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGGCGCGCCGACGTGTCCA	0.647000													5	38					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462598	5462598	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:5462598G>A	ENST00000345221.3	-	4	1972	c.1418C>T	c.(1417-1419)gCa>gTa	p.A473V	NLRP1_ENST00000572272.1_Missense_Mutation_p.A473V|NLRP1_ENST00000354411.3_Missense_Mutation_p.A473V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A473V|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.A473V|NLRP1_ENST00000262467.5_Missense_Mutation_p.A473V	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	473	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.A473V(6)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TACCCAACGTGCCTGCTCCAA	0.502000													20	37					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156376676	156376676	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:156376676A>C	ENST00000274532.2	-	4	802	c.746T>G	c.(745-747)cTg>cGg	p.L249R	TIMD4_ENST00000407087.3_Missense_Mutation_p.L249R	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	249	Ser-rich.					integral to membrane		p.L249R(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGATGTCAGCAGGACAGTGTC	0.458000													26	116					0	0	1	0	0
CD28	940	broad.mit.edu	37	2	204571325	204571325	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:204571325T>C	ENST00000458610.2	+	1	79	c.79T>C	c.(79-81)Tct>Cct	p.S27P	CD28_ENST00000324106.7_5'UTR|CD28_ENST00000374481.3_5'UTR			P10747	CD28_HUMAN	CD28 molecule	13					cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TGACGGAGACTCTCAGGCCTT	0.587000													4	38					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981463	70981463	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:70981463G>T	ENST00000276594.2	-	2	834	c.633C>A	c.(631-633)ccC>ccA	p.P211P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P211P(2)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCTCCAGGCTGGGAGTGACCC	0.592000													26	19					1.39806e-14	1.79564e-14	1	1	0
ACSL6	23305	broad.mit.edu	37	5	131323839	131323839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:131323839C>A	ENST00000379264.2	-	7	841	c.733G>T	c.(733-735)Ggc>Tgc	p.G245C	ACSL6_ENST00000379249.3_Missense_Mutation_p.G220C|ACSL6_ENST00000379244.1_Missense_Mutation_p.G220C|ACSL6_ENST00000379272.2_Missense_Mutation_p.G235C|ACSL6_ENST00000543479.1_Missense_Mutation_p.G220C|ACSL6_ENST00000379255.1_Missense_Mutation_p.G185C|ACSL6_ENST00000379240.1_Missense_Mutation_p.G220C|ACSL6_ENST00000379246.1_Missense_Mutation_p.G231C|ACSL6_ENST00000431707.1_Missense_Mutation_p.G200C|ACSL6_ENST00000544770.1_Missense_Mutation_p.G129C|ACSL6_ENST00000357096.1_Missense_Mutation_p.G185C|ACSL6_ENST00000296869.4_Missense_Mutation_p.G245C	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	220					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G245F(4)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCTTGAGGCCTGGAGTCTCC	0.562000													169	201					1.99794e-63	3.65736e-63	1	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103229014	103229014	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:103229014G>T	ENST00000375735.2	+	83	12227	c.12083G>T	c.(12082-12084)gGt>gTt	p.G4028V	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G4035V|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4028					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.G1468V(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATAACAGCTGGTTCCAAATTT	0.353000													15	17					1.96895e-08	2.25081e-08	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47530541	47530541	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:47530541G>T	ENST00000426342.1	-	7	1288	c.542C>A	c.(541-543)aCg>aAg	p.T181K	MDGA2_ENST00000357362.3_Missense_Mutation_p.T181K|MDGA2_ENST00000439988.2_Missense_Mutation_p.T410K|MDGA2_ENST00000399232.2_Missense_Mutation_p.T479K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	410	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.T181K(4)|p.T479K(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCAAAATCCGTGAATTTTAA	0.428000													133	184					5.91622e-87	1.16008e-86	1	1	0
PARVG	64098	broad.mit.edu	37	22	44581730	44581730	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:44581730C>A	ENST00000422871.1	+	4	546	c.122C>A	c.(121-123)cCc>cAc	p.P41H	PARVG_ENST00000444313.2_Missense_Mutation_p.P41H|PARVG_ENST00000415224.1_Missense_Mutation_p.P41H|PARVG_ENST00000453888.3_3'UTR	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	41					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P41H(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CGGAAGGACCCCAAATTTGAA	0.612000													7	7					0.00448238	0.00468651	1	1	0
HTR1A	3350	broad.mit.edu	37	5	63257347	63257347	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:63257347A>T	ENST00000323865.3	-	1	433	c.200T>A	c.(199-201)cTg>cAg	p.L67Q	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	67					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.L67Q(2)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CACGTTCTGCAGGGAGCGCTC	0.602000													19	39					0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247058	56247058	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:56247058C>A	ENST00000545221.1	+	1	42	c.42C>A	c.(40-42)ttC>ttA	p.F14L		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F14L(2)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACTTTGTCTTCCTGGGGCTCT	0.458000													33	130					1.67305e-13	2.06693e-13	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3072046	3072046	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:3072046A>C	ENST00000602557.1	-	31	5398	c.4843T>G	c.(4843-4845)Tgg>Ggg	p.W1615G	CSMD1_ENST00000400186.3_Missense_Mutation_p.W1615G|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.W1615G|CSMD1_ENST00000539096.1_Missense_Mutation_p.W1614G|CSMD1_ENST00000542608.1_Missense_Mutation_p.W1614G|CSMD1_ENST00000537824.1_Missense_Mutation_p.W1614G|CSMD1_ENST00000520002.1_Missense_Mutation_p.W1615G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1615	Sushi 9.					integral to membrane		p.W1343G(1)|p.W1614G(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTTGGTCCCAGGAGGGTTTC	0.483000													10	57					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29287786	29287786	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:29287786G>T	ENST00000331664.5	-	2	3815	c.3816C>A	c.(3814-3816)atC>atA	p.I1272I		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1272					response to stimulus|visual perception	photoreceptor outer segment		p.I1272I(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ATTTGTCCTGGATGTGGCCGG	0.662000													5	10					0.0215528	0.0219512	1	1	0
PILRB	29990	broad.mit.edu	37	7	99956501	99956501	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:99956501A>T	ENST00000310771.4	+	16	2749	c.253A>T	c.(253-255)Agg>Tgg	p.R85W	PILRB_ENST00000452089.1_Missense_Mutation_p.R85W|PILRB_ENST00000444874.1_Intron|PILRB_ENST00000444073.1_Missense_Mutation_p.R85W|PILRB_ENST00000448382.1_Intron			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	85	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	p.R85W(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTACAGCACAAGGCCGCCTTC	0.547000													12	61					0	0	1	0	0
GNRHR	2798	broad.mit.edu	37	4	68619638	68619638	+	Missense_Mutation	SNP	C	C	T	rs104893842		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:68619638C>T	ENST00000226413.4	-	1	440	c.416G>A	c.(415-417)cGc>cAc	p.R139H	RP11-453E17.1_ENST00000502758.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.R139H	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	139			R -> H (in IHH; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro).		multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	p.R139H(2)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	AGCCAGGGAGCGGTCCAGGCT	0.512000													27	148					0	0	1	0	0
CLEC1A	51267	broad.mit.edu	37	12	10226002	10226002	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:10226002G>T	ENST00000315330.4	-	5	614	c.552C>A	c.(550-552)gcC>gcA	p.A184A	CLEC1A_ENST00000457018.2_Silent_p.A151A|CLEC1A_ENST00000420265.2_Silent_p.A92A	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	184	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	p.A184A(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TCTGAGACGCGGCAAATTCCT	0.483000													35	151					8.16277e-20	1.13866e-19	1	1	0
SPAG16	79582	broad.mit.edu	37	2	214162030	214162030	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:214162030G>T	ENST00000374309.3	+	2	65	c.65G>T	c.(64-66)tGg>tTg	p.W22L	SPAG16_ENST00000447990.1_Silent_p.L76L|SPAG16_ENST00000272898.7_Silent_p.L76L|SPAG16_ENST00000331683.5_Silent_p.L76L|SPAG16_ENST00000432529.2_Silent_p.L76L|SPAG16_ENST00000413312.1_Silent_p.L45L|SPAG16_ENST00000414961.2_3'UTR			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	0					cilium assembly	cilium axoneme|flagellar axoneme		p.L76L(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AAGAAGATCTGGCAAAAGCAA	0.373000													42	225					2.22609e-26	3.32405e-26	1	1	0
EP400	57634	broad.mit.edu	37	12	132446343	132446343	+	Missense_Mutation	SNP	G	G	C	rs141437491		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:132446343G>C	ENST00000333577.4	+	2	1288	c.1179G>C	c.(1177-1179)ttG>ttC	p.L393F	EP400_ENST00000389562.2_Missense_Mutation_p.L393F|EP400_ENST00000332482.4_Missense_Mutation_p.L393F|EP400_ENST00000389561.2_Missense_Mutation_p.L393F|EP400_ENST00000330386.6_Missense_Mutation_p.L393F			Q96L91	EP400_HUMAN	E1A binding protein p400	393					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.L393F(2)		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)		TGTTTTTCTTGCAACACTTTC	0.413000													12	52					0	0	1	0	0
PPM1H	57460	broad.mit.edu	37	12	63083523	63083523	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:63083523C>A	ENST00000228705.6	-	8	1501	c.1201G>T	c.(1201-1203)Gac>Tac	p.D401Y	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	401	PP2C-like.						phosphoprotein phosphatase activity	p.D401Y(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		ATGTTGGAGTCATGCACCTTC	0.458000													38	71					3.94638e-17	5.29064e-17	1	1	0
RASA3	22821	broad.mit.edu	37	13	114778667	114778667	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:114778667G>T	ENST00000334062.7	-	15	1584	c.1463C>A	c.(1462-1464)gCg>gAg	p.A488E	RASA3_ENST00000389544.4_Missense_Mutation_p.A456E	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	488	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	p.A488E(2)|p.A488V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AATGGCGGGCGCAAAGAACCT	0.617000													4	5					0.000602214	0.000639345	1	1	0
MUC17	140453	broad.mit.edu	37	7	100663463	100663463	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:100663463T>A	ENST00000306151.4	+	1	111	c.47T>A	c.(46-48)cTc>cAc	p.L16H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	16						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.L16H(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTTGGTCCTCTCGCTCTTG	0.652000													50	26					0	0	1	0	0
C5orf34	375444	broad.mit.edu	37	5	43503862	43503862	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:43503862C>A	ENST00000306862.2	-	5	1308	c.932_splice	c.e5-1	p.R311_splice	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	311								p.R311S(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					AAAAATTCCACCTGTGAAGGA	0.323000													6	169					0.0215528	0.0219512	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55761855	55761855	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:55761855C>G	ENST00000278409.1	-	1	246	c.247G>C	c.(247-249)Gca>Cca	p.A83P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A83P(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AATAAATCTGCCAGCATCTTT	0.458000													20	152					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158617395	158617395	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158617395C>A	ENST00000368148.3	-	27	4010	c.3830G>T	c.(3829-3831)cGt>cTt	p.R1277L	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1277L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1277					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1277L(2)|p.R1277H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCTTTGTACGCCCCTGCAG	0.557000													32	176					2.81731e-10	3.32407e-10	1	1	0
KCNA2	3737	broad.mit.edu	37	1	111146880	111146880	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:111146880G>T	ENST00000485317.1	-	3	1198	c.525C>A	c.(523-525)atC>atA	p.I175I	KCNA2_ENST00000369770.3_Silent_p.I175I|KCNA2_ENST00000316361.4_Silent_p.I175I|KCNA2_ENST00000440270.1_Silent_p.I175I|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	175						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.I175I(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TGACAATTGAGATCAGAATCA	0.463000													44	69					6.23363e-37	1.02224e-36	1	1	0
KIF21B	23046	broad.mit.edu	37	1	200978567	200978567	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:200978567T>A	ENST00000332129.2	-	2	407	c.91A>T	c.(91-93)Acc>Tcc	p.T31S	KIF21B_ENST00000360529.5_Missense_Mutation_p.T31S|KIF21B_ENST00000461742.2_Missense_Mutation_p.T31S|KIF21B_ENST00000422435.2_Missense_Mutation_p.T31S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	31	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.T31S(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTAACAGAGGTACAGATGTGA	0.592000													41	75					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61894041	61894041	+	Silent	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:61894041T>A	ENST00000280772.1	-	25	3020	c.2829A>T	c.(2827-2829)ccA>ccT	p.P943P	ANK3_ENST00000373827.2_Silent_p.P937P|ANK3_ENST00000503366.1_Silent_p.P944P|ANK3_ENST00000355288.2_Silent_p.P77P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	943					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.P578P(2)|p.P77P(2)|p.P943P(2)		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						GCTCTTTGGATGGCACAAGGA	0.398000													54	127					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50765580	50765580	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:50765580G>T	ENST00000404971.1	-	11	3413	c.2074C>A	c.(2074-2076)Caa>Aaa	p.Q692K	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.Q644K|NRXN1_ENST00000406859.3_Missense_Mutation_p.Q652K|NRXN1_ENST00000401669.2_Missense_Mutation_p.Q652K|NRXN1_ENST00000402717.3_Missense_Mutation_p.Q644K|NRXN1_ENST00000406316.2_Missense_Mutation_p.Q652K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	652	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.Q693K(2)|p.Q652K(2)|p.Q692K(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTTGCTTTGGCCATCGATG	0.507000													210	495					4.59961e-116	9.31759e-116	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130293212	130293212	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:130293212C>T	ENST00000358511.6	+	7	3421	c.3390C>T	c.(3388-3390)atC>atT	p.I1130I	COL6A6_ENST00000453409.2_Silent_p.I1130I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1130	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen		p.I1130I(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACAGAGGTATCGACATCTACT	0.552000													7	230					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922175	24922175	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:24922175G>T	ENST00000329468.2	+	1	1635	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.E387D(2)									ATAAAACAGAGACCATGACAA	0.527000													6	23					0.0293803	0.0297584	1	1	0
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs138483057	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:52864028C>T	ENST00000451298.1	-	0	141				RP11-64P12.8_ENST00000606031.1_RNA																							TAGAATGATACTCCAAAGGAA	0.313000													4	75					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62845321	62845321	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:62845321C>T	ENST00000512091.1	+	17	3389	c.2642C>T	c.(2641-2643)aCg>aTg	p.T881M	LPHN3_ENST00000506720.1_Missense_Mutation_p.T949M|LPHN3_ENST00000507164.1_Missense_Mutation_p.T949M|LPHN3_ENST00000514591.1_Missense_Mutation_p.T881M|LPHN3_ENST00000514996.1_Missense_Mutation_p.T881M|LPHN3_ENST00000508946.1_Missense_Mutation_p.T881M|LPHN3_ENST00000506700.1_Missense_Mutation_p.T881M|LPHN3_ENST00000514157.1_Missense_Mutation_p.T881M|LPHN3_ENST00000507625.1_Missense_Mutation_p.T949M|LPHN3_ENST00000509896.1_Missense_Mutation_p.T949M|LPHN3_ENST00000545650.1_Missense_Mutation_p.T881M|LPHN3_ENST00000511324.1_Missense_Mutation_p.T949M|LPHN3_ENST00000508693.1_Missense_Mutation_p.T949M|LPHN3_ENST00000504896.1_Missense_Mutation_p.T881M|LPHN3_ENST00000506746.1_Missense_Mutation_p.T949M			Q9HAR2	LPHN3_HUMAN	latrophilin 3	868					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.T881M(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATGTGATCACGTGGGTTGGA	0.448000													440	937					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33793329	33793329	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:33793329G>T	ENST00000261326.5	+	7	1240	c.1218_splice	c.e7-1	p.V407_splice		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	407					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	p.V407L(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AAATCCGCAGGTGGACAAAAT	0.463000													24	100					8.16721e-17	1.08437e-16	1	1	0
LAMC3	10319	broad.mit.edu	37	9	133932444	133932444	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:133932444G>T	ENST00000361069.4	+	12	2201	c.2068G>T	c.(2068-2070)Gga>Tga	p.G690*	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	690	Laminin EGF-like 5; second part.				cell adhesion	basement membrane|membrane	structural molecule activity	p.G690*(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTGTGCTCCGGGATACAAGAG	0.617000													24	44					8.24728e-16	1.07429e-15	1	1	0
GRID2	2895	broad.mit.edu	37	4	94693324	94693324	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:94693324T>C	ENST00000282020.4	+	16	2957	c.2699T>C	c.(2698-2700)aTt>aCt	p.I900T	GRID2_ENST00000510992.1_Missense_Mutation_p.I805T	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	900					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.I900T(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACCTCGTCAATTGATTTGACC	0.453000													132	249					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55979649	55979649	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:55979649C>A	ENST00000263923.4	-	7	1094		c.e7-1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.?(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TATGCTGATGCTGAAAAAAAG	0.373000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			8	30					0.00621372	0.00645992	1	1	0
TLR4	7099	broad.mit.edu	37	9	120476354	120476354	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:120476354C>T	ENST00000355622.6	+	3	2049	c.1948C>T	c.(1948-1950)Ctg>Ttg	p.L650L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L610L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	650					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.L650L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGTAGCAGTTCTGGTCTATAA	0.428000													34	61					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542347	179542347	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:179542347C>A	ENST00000589042.1	-	146	34516		c.e146+1		TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(2)		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)			AGCTGCTATACCTGGTGCAGG	0.418000													12	26					1.05317e-09	1.22684e-09	1	1	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999276	112999276	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:112999276G>T	ENST00000271277.6	+	6	1387	c.1162G>T	c.(1162-1164)Gag>Tag	p.E388*		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	388						actin cytoskeleton	protein binding	p.E388*(2)|p.E388K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAACCAGTGGAGAATGGTGG	0.552000													78	127					1.13027e-35	1.84254e-35	1	1	0
TTC14	151613	broad.mit.edu	37	3	180327803	180327803	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:180327803G>T	ENST00000296015.4	+	12	1918	c.1786G>T	c.(1786-1788)Gat>Tat	p.D596Y	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	596							RNA binding	p.D596Y(2)|p.D596N(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TAGGTCTGAAGATCCAAGAGA	0.353000													24	150					1.5548e-18	2.13108e-18	1	1	0
SH2B1	25970	broad.mit.edu	37	16	28880417	28880417	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:28880417G>T	ENST00000337120.5	+	3	4423	c.1133_splice	c.e3+1	p.G378_splice	SH2B1_ENST00000395532.4_Splice_Site_p.G378_splice|SH2B1_ENST00000545570.1_Splice_Site_p.G68_splice|SH2B1_ENST00000359285.5_Splice_Site_p.G378_splice|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Splice_Site_p.G378_splice|SH2B1_ENST00000538342.1_Splice_Site_p.G42_splice	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	378	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.G378*(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCTGAGCCCAGGGTGAGAAGC	0.562000													6	107					5.68852e-11	6.78437e-11	1	1	0
CTNNA3	29119	broad.mit.edu	37	10	67726505	67726505	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:67726505C>A	ENST00000433211.1	-	17	2440		c.e17-1		CTNNA3_ENST00000373735.1_Splice_Site|CTNNA3_ENST00000373744.4_Splice_Site	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.?(4)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GATCTGGGCACTAAATATGAA	0.363000													16	68					3.41278e-10	4.01804e-10	1	1	0
EGFLAM	133584	broad.mit.edu	37	5	38418194	38418194	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:38418194G>C	ENST00000322350.5	+	12	1867	c.1521G>C	c.(1519-1521)cgG>cgC	p.R507R	EGFLAM_ENST00000354891.3_Silent_p.R507R|EGFLAM_ENST00000336740.6_Silent_p.R273R|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	507	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.R507L(4)		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)					TTACTTTCCGGACACCTCTCT	0.453000													89	276					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813237	176813237	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:176813237C>A	ENST00000324417.5	+	4	366	c.275C>A	c.(274-276)cCc>cAc	p.P92H	SLC34A1_ENST00000512593.1_Missense_Mutation_p.P92H	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	92					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.P92H(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			AGGCTGGTCCCCAAGCTGCGC	0.662000													30	41					2.51541e-25	3.72578e-25	1	1	0
GSN	2934	broad.mit.edu	37	9	124088797	124088797	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:124088797T>C	ENST00000373823.3	+	20	2329	c.1424T>C	c.(1423-1425)gTg>gCg	p.V475A	GSN_ENST00000545652.1_Missense_Mutation_p.V483A|GSN_ENST00000412819.1_Missense_Mutation_p.V475A|GSN_ENST00000373818.4_Missense_Mutation_p.V526A|GSN_ENST00000341272.2_Missense_Mutation_p.V475A|GSN_ENST00000394353.2_Missense_Mutation_p.V486A|GSN_ENST00000436847.1_Missense_Mutation_p.V486A|GSN_ENST00000373807.1_Missense_Mutation_p.V257A|GSN_ENST00000373808.2_Missense_Mutation_p.V475A|GSN_ENST00000449733.1_Missense_Mutation_p.V475A			P06396	GELS_HUMAN	gelsolin	526	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	p.V526A(2)|p.V475A(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CAGAGCCGTGTGGTCCAAGGC	0.637000													4	20					0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158368914	158368914	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158368914G>T	ENST00000334438.1	-	1	342	c.343C>A	c.(343-345)Ctc>Atc	p.L115I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L115I(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ACAGCAATGAGGAGGCAGTTG	0.498000													43	193					6.21074e-16	8.10929e-16	1	1	0
SLC12A8	84561	broad.mit.edu	37	3	124802813	124802813	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:124802813T>A	ENST00000423114.2	-	14	2152	c.2153A>T	c.(2152-2154)gAg>gTg	p.E718V	SLC12A8_ENST00000393469.4_Missense_Mutation_p.E689V|SLC12A8_ENST00000430155.2_Missense_Mutation_p.E490V|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000314584.7_Missense_Mutation_p.E350V|SLC12A8_ENST00000469902.1_Missense_Mutation_p.E689V			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	689					potassium ion transport	integral to membrane	symporter activity	p.E727V(2)|p.E689V(2)		endometrium(2)|kidney(2)|lung(12)	16						GTCTGCATTCTCCTGGGTGAG	0.587000													32	57					0	0	1	0	0
ZNF621	285268	broad.mit.edu	37	3	40573808	40573808	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:40573808G>C	ENST00000339296.5	+	5	999	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	ZNF621_ENST00000403205.2_Missense_Mutation_p.E183Q|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.E72Q|ZNF621_ENST00000490457.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E183Q(2)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TAAGTGTAAGGAGTGTGGCAA	0.403000													31	72					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799229	5799229	+	Silent	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:5799229A>T	ENST00000317093.2	-	1	668	c.636T>A	c.(634-636)gcT>gcA	p.A212A	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A212A(2)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CAATCAGGAGAGCAACCATTA	0.428000													97	679					0	0	1	0	0
FGF10	2255	broad.mit.edu	37	5	44305247	44305247	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:44305247A>T	ENST00000264664.4	-	3	591	c.477T>A	c.(475-477)aaT>aaA	p.N159K		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	159					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	p.N159K(2)		haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TATTGTATCCATTTTCCTCTA	0.378000													175	516					0	0	1	0	0
DHRS11	79154	broad.mit.edu	37	17	34951468	34951468	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:34951468C>T	ENST00000251312.5	+	2	427	c.215C>T	c.(214-216)tCa>tTa	p.S72L	DHRS11_ENST00000590554.1_5'UTR|DHRS11_ENST00000394445.1_3'UTR	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	72						extracellular region	binding|oxidoreductase activity	p.S72L(2)		endometrium(1)|lung(4)	5						TGTGACCTATCAAATGAAGAG	0.537000													22	109					0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3452610	3452610	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:3452610G>T	ENST00000589123.1	+	8	1308	c.1188G>T	c.(1186-1188)ccG>ccT	p.P396P	NFIC_ENST00000346156.5_Silent_p.P372P|NFIC_ENST00000341919.3_Silent_p.P405P|NFIC_ENST00000395111.3_Silent_p.P396P|NFIC_ENST00000590282.1_Silent_p.P405P|NFIC_ENST00000586919.1_Silent_p.P372P|NFIC_ENST00000443272.2_Silent_p.P405P	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	405					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P396P(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CCCAGGACCCGCTCAAAGATC	0.652000													3	16					0.004672	0.00487552	1	1	0
IFNL3	282617	broad.mit.edu	37	19	39734774	39734774	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:39734774C>G	ENST00000413851.2	-	3	320	c.282G>C	c.(280-282)ttG>ttC	p.L94F		NM_172139.2	NP_742151.2			interferon, lambda 3									p.L94F(2)									GCTCAGCCTCCAAAGCCACGG	0.637000													8	24					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37533689	37533689	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:37533689G>T	ENST00000216223.5	-	6	673	c.475C>A	c.(475-477)Cac>Aac	p.H159N		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	159	Fibronectin type-III.				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	p.H159N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCAAAGTAGTGGGAGGCTTGG	0.587000													14	68					3.27435e-08	3.73534e-08	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121650791	121650791	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:121650791C>G	ENST00000393386.2	+	12	2102	c.1691C>G	c.(1690-1692)tCt>tGt	p.S564C	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S564C	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	564					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.S564C(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATACAGTTTCTATAACAGAA	0.423000													65	64					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88337916	88337916	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:88337916A>G	ENST00000418177.2	-	5	1731	c.1364T>C	c.(1363-1365)cTa>cCa	p.L455P	GRM5_ENST00000305447.4_Missense_Mutation_p.L455P|GRM5_ENST00000455756.2_Missense_Mutation_p.L455P|GRM5_ENST00000305432.5_Missense_Mutation_p.L455P|GRM5_ENST00000393297.1_Missense_Mutation_p.L455P			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	455					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.L455P(4)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTCATCGAATAGGATCGTATC	0.433000													42	58					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150923125	150923125	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:150923125G>A	ENST00000261800.5	-	9	7575	c.7563C>T	c.(7561-7563)atC>atT	p.I2521I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2521	Cadherin 22.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.I2521I(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTAGTTTATTGATGATAGTAT	0.413000													40	157					0	0	1	0	0
GATA4	2626	broad.mit.edu	37	8	11607724	11607724	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:11607724C>G	ENST00000335135.4	+	4	1446	c.888C>G	c.(886-888)ggC>ggG	p.G296G	GATA4_ENST00000528712.1_Silent_p.G90G|GATA4_ENST00000532059.1_Silent_p.G297G	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	296			G -> S (in ASD2).		atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.G296G(2)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		ATGCCTGCGGCCTCTACATGA	0.637000													15	34					0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5141584	5141584	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:5141584G>T	ENST00000380554.3	+	5	1165	c.513G>T	c.(511-513)agG>agT	p.R171S	AKR1C3_ENST00000439082.2_Missense_Mutation_p.R52S|AKR1C3_ENST00000605149.1_Missense_Mutation_p.R148S	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	171					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.R171S(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TCAACCGCAGGCAGCTGGAGA	0.527000													104	216					6.99195e-59	1.25491e-58	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2876097	2876097	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:2876097G>C	ENST00000602557.1	-	53	8489	c.7934C>G	c.(7933-7935)gCt>gGt	p.A2645G	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.A2644G|CSMD1_ENST00000520002.1_Missense_Mutation_p.A2645G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2645	Sushi 17.					integral to membrane		p.A2644G(2)|p.A2373G(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGTAAATATAGCTGTGGCCCC	0.483000													83	442					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432903	104432903	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:104432903G>T	ENST00000361820.3	-	3	2391	c.1791C>A	c.(1789-1791)ctC>ctA	p.L597L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	597					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.L597L(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTACAATATAGAGGTCGAAGT	0.453000													18	166					1.40151e-16	1.85188e-16	1	1	0
SCN3A	6328	broad.mit.edu	37	2	165984466	165984466	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:165984466C>A	ENST00000360093.3	-	18	3559	c.3068G>T	c.(3067-3069)cGg>cTg	p.R1023L	SCN3A_ENST00000283254.7_Missense_Mutation_p.R1023L|SCN3A_ENST00000409101.3_Missense_Mutation_p.R974L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1023						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1023L(2)|p.R974L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GAAACACTCCCGCATCTTATT	0.358000													23	45					1.55469e-16	2.04937e-16	1	1	0
DIAPH3	81624	broad.mit.edu	37	13	60490351	60490351	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:60490351C>A	ENST00000400324.4	-	19	2423	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*	DIAPH3_ENST00000400330.1_Nonsense_Mutation_p.E735*|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Nonsense_Mutation_p.E724*|DIAPH3_ENST00000267215.4_Nonsense_Mutation_p.E735*|DIAPH3_ENST00000400320.1_Nonsense_Mutation_p.E689*|DIAPH3_ENST00000400319.1_Nonsense_Mutation_p.E665*	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	735	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.E735*(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTGATTTCCTCATATGGCACC	0.348000													86	202					2.29255e-20	3.22244e-20	1	1	0
USP16	10600	broad.mit.edu	37	21	30415863	30415863	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr21:30415863T>C	ENST00000334352.4	+	14	1530	c.1299T>C	c.(1297-1299)tcT>tcC	p.S433S	USP16_ENST00000399975.3_Silent_p.S432S|USP16_ENST00000399976.2_Silent_p.S433S|USP16_ENST00000535828.1_Silent_p.S62S	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	433					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.S433S(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						ATATTCCTTCTGGAACAAGTA	0.333000													23	159					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129674483	129674483	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:129674483C>T	ENST00000421865.2	+	32	4747	c.4698C>T	c.(4696-4698)cgC>cgT	p.R1566R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1566	Laminin EGF-like 17.				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	p.R1566R(2)		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)		GGCATGCACGCGAGGGCTGGG	0.537000													171	137					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242381	126242381	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:126242381C>A	ENST00000394329.3	+	1	4828	c.4815C>A	c.(4813-4815)gaC>gaA	p.D1605E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1605	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D1605E(4)		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						CAGCAACAGACCTTGGGCCTG	0.433000													56	145					3.10202e-16	4.06955e-16	1	1	0
OLFM2	93145	broad.mit.edu	37	19	9968420	9968420	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:9968420C>T	ENST00000264833.4	-	3	516	c.331G>A	c.(331-333)Gat>Aat	p.D111N	OLFM2_ENST00000590841.1_Missense_Mutation_p.D33N	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	111						extracellular region		p.D111N(3)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						AGGGACCCATCAGCTGCCCGG	0.577000													29	32					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58979381	58979381	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:58979381G>T	ENST00000361050.3	-	1	1043	c.958C>A	c.(958-960)Cct>Act	p.P320T		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	320	MACPF.					integral to membrane		p.P320T(2)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGCAAGTCAGGTAGCATGTTG	0.557000													62	78					1.20869e-33	1.94734e-33	1	1	0
ZNF845	91664	broad.mit.edu	37	19	53854476	53854476	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:53854476G>C	ENST00000458035.1	+	4	665	c.548G>C	c.(547-549)aGg>aCg	p.R183T	ZNF845_ENST00000595091.1_Missense_Mutation_p.R183T	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R183T(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATTTCTTGTAGGCCTAAAACC	0.373000													12	50					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396952	197396952	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:197396952G>T	ENST00000367397.1	+	3	1498	c.640G>T	c.(640-642)Ggt>Tgt	p.G214C	CRB1_ENST00000535699.1_Missense_Mutation_p.G764C|CRB1_ENST00000367400.3_Missense_Mutation_p.G833C|CRB1_ENST00000367399.2_Missense_Mutation_p.G721C|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.G314C			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	833	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.G833C(2)		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						CATCTACATTGGTGGCCTACC	0.378000													78	80					6.21051e-42	1.04969e-41	1	1	0
NF1	4763	broad.mit.edu	37	17	29657518	29657518	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:29657518T>A	ENST00000358273.4	+	39	6195		c.e39+2		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(7)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCAAATCTAGTAAGTAATGAT	0.323000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			23	26					0	0	1	0	0
LOC100420587	100420587	broad.mit.edu	37	19	29215153	29215153	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:29215153C>A	ENST00000592347.1	-	0	388																											GACTGTCCGCCATCCAGATGG	0.443000													8	40					0.00448238	0.00468651	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058156	152058156	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:152058156G>A	ENST00000368806.1	-	3	2066	c.2002C>T	c.(2002-2004)Ctg>Ttg	p.L668L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	668							calcium ion binding	p.L668L(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCTATTTCCAGGGACTTTCTA	0.507000													72	392					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282950	52282950	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:52282950G>T	ENST00000301190.6	+	3	723	c.496G>T	c.(496-498)Gac>Tac	p.D166Y	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000340970.4_Missense_Mutation_p.D31Y	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	31								p.D166Y(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CAAAGGAGGGGACACGGCCCT	0.612000													8	70					2.80697e-09	3.24925e-09	1	1	0
CCDC19	25790	broad.mit.edu	37	1	159857673	159857673	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:159857673C>A	ENST00000426543.2	-	5	746	c.291G>T	c.(289-291)aaG>aaT	p.K97N	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.K182N			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	182						mitochondrion|soluble fraction		p.K182N(2)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CCATCCGCAGCTTGTTGGCTC	0.582000													76	386					6.11987e-43	1.04076e-42	1	1	0
FAM98A	25940	broad.mit.edu	37	2	33810265	33810265	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:33810265G>A	ENST00000238823.8	-	8	1275	c.1135C>T	c.(1135-1137)Cat>Tat	p.H379Y	FAM98A_ENST00000441530.2_Missense_Mutation_p.H184Y|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	380	Gly-rich.							p.H379Y(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCTCCTTGATGCTTATTTCCT	0.567000													90	226					0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159680488	159680488	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:159680488T>C	ENST00000393977.3	-	7	1490	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.H354R	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	402						nucleus		p.H402R(2)		endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATGGCCATATGCATGCTAAG	0.607000													116	97					0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130588868	130588868	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:130588868C>A	ENST00000344849.3	-	4	724	c.444G>T	c.(442-444)gaG>gaT	p.E148D	ENG_ENST00000373203.4_Missense_Mutation_p.E148D			P17813	EGLN_HUMAN	endoglin	148					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	p.E148D(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CAGCTGCCCACTCAAGGATCT	0.612000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				3	13					0.150653	0.150653	1	1	0
CHIT1	1118	broad.mit.edu	37	1	203192633	203192633	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:203192633G>T	ENST00000367229.1	-	5	504	c.470C>A	c.(469-471)aCc>aAc	p.T157N	CHIT1_ENST00000535569.1_Missense_Mutation_p.T148N|CHIT1_ENST00000255427.3_Missense_Mutation_p.T138N|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	157					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	p.T157N(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTGTACCAGGGTTGTGAAGCG	0.627000													21	95					4.62619e-21	6.56967e-21	1	1	0
FLG2	388698	broad.mit.edu	37	1	152323916	152323916	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:152323916C>A	ENST00000388718.5	-	3	6418	c.6346G>T	c.(6346-6348)Ggg>Tgg	p.G2116W	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2116							calcium ion binding|structural molecule activity	p.G2116W(2)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGAGACCCCTGAGTGCACT	0.532000													290	1904					7.97229e-56	1.41245e-55	1	1	0
ADAM7	8756	broad.mit.edu	37	8	24350690	24350690	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:24350690A>T	ENST00000175238.6	+	16	1873	c.1790A>T	c.(1789-1791)gAt>gTt	p.D597V	ADAM7_ENST00000380789.1_Missense_Mutation_p.D597V|ADAM7_ENST00000520720.1_Missense_Mutation_p.D369V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	597	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.D597V(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTATACCATGATTCTACAGAC	0.403000													54	95					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29667614	29667614	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:29667614T>A	ENST00000358273.4	+	47	7396	c.7013T>A	c.(7012-7014)cTt>cAt	p.L2338H	NF1_ENST00000417592.2_Missense_Mutation_p.L51H|NF1_ENST00000356175.3_Missense_Mutation_p.L2317H|NF1_ENST00000444181.2_Missense_Mutation_p.L131H	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2338					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.L2338H(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCGCACTTCTTGAACAAAAC	0.443000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	76					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	2990067	2990067	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:2990067G>T	ENST00000381127.1	+	3	233	c.11_splice	c.e3-1	p.R4_splice	ARSF_ENST00000359361.2_Splice_Site_p.R4_splice|ARSF_ENST00000537104.1_Splice_Site_p.R4_splice	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	4						extracellular region	arylsulfatase activity|metal ion binding	p.R4S(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCTTTCCAGGAGACCCTTGG	0.493000													63	180					1.15062e-32	1.83765e-32	1	1	0
ANKRD24	170961	broad.mit.edu	37	19	4219712	4219712	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:4219712G>T	ENST00000600132.1	+	19	3404	c.3128G>T	c.(3127-3129)cGg>cTg	p.R1043L	ANKRD24_ENST00000318934.4_Missense_Mutation_p.R1043L|ANKRD24_ENST00000262970.5_Missense_Mutation_p.R1133L	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1043								p.R1133L(2)|p.R608L(2)|p.R1043L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GCCCAGAGCCGGGCCCAGGAG	0.657000													11	23					9.31168e-06	1.0241e-05	1	1	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078030	90078030	+	RNA	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:90078030G>T	ENST00000390270.2	+	0	164																											CGGAGAAATTGTGTTGACGCA	0.488000													56	114					1.43987e-31	2.26676e-31	1	1	0
TG	7038	broad.mit.edu	37	8	134042065	134042065	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:134042065G>T	ENST00000220616.4	+	41	7076		c.e41-1		TG_ENST00000542445.1_Splice_Site|TG_ENST00000377869.1_Splice_Site|TG_ENST00000519543.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.?(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTTTCTGAAGGGTCCGGAGA	0.572000													29	33					1.69901e-12	2.07114e-12	1	1	0
HSPA6	3310	broad.mit.edu	37	1	161496061	161496061	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:161496061T>A	ENST00000309758.4	+	1	2026	c.1613T>A	c.(1612-1614)gTg>gAg	p.V538E		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	538					response to unfolded protein		ATP binding	p.V538E(2)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGGGACAGAGTGGCTGCCAAA	0.547000													3	19					0	0	1	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126597	37126597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:37126597G>T	ENST00000336755.5	+	2	374	c.268G>T	c.(268-270)Gag>Tag	p.E90*	ZCCHC7_ENST00000322831.6_Nonsense_Mutation_p.E89*|ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	90							nucleic acid binding|zinc ion binding	p.E90*(2)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		AGATGGGTCAGAGGTCATCAC	0.398000													29	197					6.03168e-27	9.05574e-27	1	1	0
NECAB1	64168	broad.mit.edu	37	8	91937778	91937778	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:91937778G>T	ENST00000417640.2	+	7	847	c.510G>T	c.(508-510)aaG>aaT	p.K170N		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	170					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	p.K170N(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GGCCAGCCAAGCCAGAAGTCC	0.483000													10	66					1.08611e-07	1.22632e-07	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22155180	22155180	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:22155180C>T	ENST00000397126.4	-	4	2804	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.E786K(4)|p.E886K(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGGGTTTCTCTCCAGTATGA	0.378000													30	90					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622447	38622447	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:38622447C>A	ENST00000413689.1	-	17	3396	c.3203G>T	c.(3202-3204)gGc>gTc	p.G1068V	SCN5A_ENST00000414099.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000455624.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1068V|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1068V|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1068V|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1068V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1068					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.G1068V(4)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCCTCCGTGCCCAGGCTGTT	0.632000													19	28					3.62473e-10	4.25848e-10	1	1	0
KHNYN	23351	broad.mit.edu	37	14	24901180	24901180	+	Missense_Mutation	SNP	G	G	T	rs142344659		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:24901180G>T	ENST00000251343.5	+	3	852	c.713G>T	c.(712-714)gGa>gTa	p.G238V	KHNYN_ENST00000553935.1_Missense_Mutation_p.G238V|KHNYN_ENST00000556842.1_Missense_Mutation_p.G238V			O15037	KHNYN_HUMAN	KH and NYN domain containing	238								p.G238V(2)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTGGACACTGGATCTATGGGA	0.627000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	29					8.4185e-14	1.05904e-13	1	1	0
PRDM2	7799	broad.mit.edu	37	1	14106677	14106677	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:14106677G>T	ENST00000235372.7	+	8	3243	c.2387G>T	c.(2386-2388)aGc>aTc	p.S796I	PRDM2_ENST00000413440.1_Missense_Mutation_p.S595I|PRDM2_ENST00000343137.4_Missense_Mutation_p.S595I|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.S796I	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	796						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S796I(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAAACTGTGAGCCCTCCATGC	0.468000													71	83					5.82419e-33	9.32886e-33	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11486977	11486977	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:11486977C>A	ENST00000423059.3	-	12	2931	c.2680G>T	c.(2680-2682)Gcc>Tcc	p.A894S	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	894						integral to membrane		p.A894S(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGGGTAAGGGCTGGCACAGGG	0.507000										HNSCC(18;0.044)			73	135					1.42382e-21	2.02719e-21	1	1	0
NAALAD2	10003	broad.mit.edu	37	11	89896515	89896515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:89896515G>T	ENST00000534061.1	+	10	1343	c.1113G>T	c.(1111-1113)tgG>tgT	p.W371C	NAALAD2_ENST00000321955.4_Missense_Mutation_p.W338C|NAALAD2_ENST00000525171.1_Missense_Mutation_p.W278C|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	371	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.W371C(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGGACTCCTGGGTATTTGGAG	0.383000													22	127					2.85442e-18	3.88342e-18	1	1	0
OR13C3	138803	broad.mit.edu	37	9	107298376	107298376	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:107298376G>C	ENST00000374781.2	-	1	761	c.719C>G	c.(718-720)cCa>cGa	p.P240R		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P240R(2)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GACCATCAGTGGAAGAACCAG	0.428000													54	253					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210574656	210574656	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:210574656G>T	ENST00000360351.4	+	12	5257	c.4751G>T	c.(4750-4752)aGa>aTa	p.R1584I	MAP2_ENST00000199940.6_Missense_Mutation_p.R285I|MAP2_ENST00000392194.1_Missense_Mutation_p.R228I|MAP2_ENST00000361559.4_Missense_Mutation_p.R228I|MAP2_ENST00000447185.1_Missense_Mutation_p.R1580I|MAP2_ENST00000475600.1_3'UTR	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1584					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.R285I(2)|p.R1584I(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CCAATTCGCAGAGCAGGGAAG	0.498000													38	74					6.57855e-14	8.31371e-14	1	1	0
ZCCHC16	340595	broad.mit.edu	37	X	111698533	111698533	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:111698533C>A	ENST00000340433.2	+	1	807	c.577C>A	c.(577-579)Cag>Aag	p.Q193K		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	193							nucleic acid binding|zinc ion binding	p.Q193K(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGATCCCAACCAGGATGAAGA	0.473000													379	305					2.5488e-171	5.24026e-171	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131830026	131830026	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:131830026C>A	ENST00000359827.3	-	29	6039	c.5077G>T	c.(5077-5079)Gat>Tat	p.D1693Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1693Y			Q9HCM2	PLXA4_HUMAN	plexin A4	1693						integral to membrane|intracellular|plasma membrane		p.D1693Y(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAGAGGTCATCCACAAACTTC	0.537000													180	111					2.4992e-98	4.95346e-98	1	1	0
NMD3	51068	broad.mit.edu	37	3	160945076	160945076	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:160945076A>T	ENST00000460469.1	+	3	676	c.221A>T	c.(220-222)gAa>gTa	p.E74V	NMD3_ENST00000472947.1_Missense_Mutation_p.E74V|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000351193.2_Missense_Mutation_p.E74V			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	74					protein transport	cytoplasm|nucleolus|nucleoplasm		p.E74V(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TGTGCTTTAGAATCCAGGGAA	0.358000													14	59					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68708818	68708818	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:68708818C>A	ENST00000303145.7	-	9	1495	c.1409G>T	c.(1408-1410)gGg>gTg	p.G470V	MDM1_ENST00000411698.2_Missense_Mutation_p.G435V|MDM1_ENST00000540418.1_Missense_Mutation_p.G190V	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	470						nucleus		p.G470L(2)|p.G470V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTTCCTGTCCCCTTCCTCTTC	0.498000													59	451					9.48467e-20	1.31639e-19	1	1	0
IGSF11	152404	broad.mit.edu	37	3	118624531	118624531	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:118624531G>T	ENST00000354673.2	-	7	992	c.612C>A	c.(610-612)atC>atA	p.I204I	IGSF11_ENST00000425327.2_Silent_p.I204I|IGSF11_ENST00000491903.1_Silent_p.I205I|IGSF11_ENST00000489689.1_Silent_p.I205I|IGSF11_ENST00000441144.2_Silent_p.I204I|IGSF11_ENST00000393775.2_Silent_p.I205I	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	205	Ig-like C2-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	p.I204I(2)|p.I205I(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACAGGGCACTGATGTTCCGGA	0.473000													33	178					1.59361e-14	2.04204e-14	1	1	0
MYH6	4624	broad.mit.edu	37	14	23871768	23871768	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:23871768C>A	ENST00000405093.3	-	12	1116	c.1046G>T	c.(1045-1047)gGc>gTc	p.G349V	MYH6_ENST00000356287.3_Missense_Mutation_p.G349V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	349	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.G349V(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTGTAGACGCCAGCTTTCTC	0.612000													31	176					1.45844e-13	1.80584e-13	1	1	0
ADAM30	11085	broad.mit.edu	37	1	120438950	120438950	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:120438950C>G	ENST00000369400.1	-	1	168	c.10G>C	c.(10-12)Gtg>Ctg	p.V4L		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	4					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AAGATCTGCACTGACCTCATG	0.532000													4	125					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109284	21109284	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:21109284G>T	ENST00000320704.3	-	1	566	c.567C>A	c.(565-567)cgC>cgA	p.R189R		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R189R(2)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGCAAGCCAGGCGGAGCAGTG	0.572000													105	135					5.10254e-61	9.27887e-61	1	1	0
GDF2	2658	broad.mit.edu	37	10	48413769	48413769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:48413769C>A	ENST00000249598.1	-	2	1258	c.1099G>T	c.(1099-1101)Gat>Tat	p.D367Y		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	367					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.D367Y(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGCGTCACATCGTCAGCCAAG	0.577000													9	23					4.68919e-08	5.31634e-08	1	1	0
KIAA2018	205717	broad.mit.edu	37	3	113388977	113388977	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:113388977G>A	ENST00000316407.4	-	5	560	c.150C>T	c.(148-150)gcC>gcT	p.A50A	KIAA2018_ENST00000478658.1_Silent_p.A50A|KIAA2018_ENST00000491165.1_Silent_p.A50A	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	50	Helix-loop-helix motif.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.A50A(2)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CCTGCTTCAGGGCAGGAGAAC	0.368000													47	234					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198703339	198703339	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:198703339C>G	ENST00000367376.2	+	21	2322	c.2151C>G	c.(2149-2151)ccC>ccG	p.P717P	PTPRC_ENST00000594404.1_Silent_p.P556P|PTPRC_ENST00000352140.3_Silent_p.P669P|PTPRC_ENST00000442510.2_Silent_p.P719P|PTPRC_ENST00000348564.6_Silent_p.P558P	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	717	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.P717P(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCAAAGAACCCAGGAAATACA	0.294000													18	22					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9345212	9345212	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:9345212C>T	ENST00000261336.2	-	12	1406	c.1378G>A	c.(1378-1380)Gtg>Atg	p.V460M	PZP_ENST00000381997.2_Missense_Mutation_p.V329M	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.V460M(1)|p.V329M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTACCAGCCACAGGCTCCAGG	0.502000													11	348					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165548021	165548021	+	Silent	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:165548021A>T	ENST00000264381.3	-	2	967	c.801T>A	c.(799-801)gcT>gcA	p.A267A	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	267					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.A267A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTCTGTTCCTAGCTTCATAAA	0.403000													102	184					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135304240	135304240	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:135304240C>T	ENST00000285968.6	+	29	4059	c.4033C>T	c.(4033-4035)Cac>Tac	p.H1345Y		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1345					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.H1345Y(2)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ACTGACTGCTCACCTAAGCCA	0.502000													32	193					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31104473	31104473	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:31104473C>A	ENST00000304166.4	+	3	367	c.78C>A	c.(76-78)atC>atA	p.I26I	ADCYAP1R1_ENST00000396211.2_Silent_p.I26I|ADCYAP1R1_ENST00000409363.1_Silent_p.I26I|ADCYAP1R1_ENST00000409489.1_Silent_p.I26I	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	26					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.I26I(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CTGACTGCATCTTCAAGAAGG	0.582000													6	46					0.0293803	0.0297584	1	1	0
USH1C	10083	broad.mit.edu	37	11	17554815	17554815	+	Silent	SNP	G	G	T	rs121908370		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:17554815G>T	ENST00000005226.7	-	2	90	c.91C>A	c.(91-93)Cga>Aga	p.R31R	USH1C_ENST00000318024.4_Silent_p.R31R|USH1C_ENST00000527720.1_5'UTR|USH1C_ENST00000527020.1_Silent_p.R31R	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	31					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.R31R(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TGGTACATTCGCAGCACATCA	0.507000													14	106					1.33834e-09	1.55575e-09	1	1	0
LIMA1	51474	broad.mit.edu	37	12	50586249	50586249	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:50586249G>T	ENST00000547825.1	-	3	1489	c.220C>A	c.(220-222)Ccc>Acc	p.P74T	LIMA1_ENST00000394943.3_Missense_Mutation_p.P377T|LIMA1_ENST00000341247.4_Missense_Mutation_p.P376T|LIMA1_ENST00000552823.1_Missense_Mutation_p.P216T|LIMA1_ENST00000552909.1_Missense_Mutation_p.P216T|LIMA1_ENST00000552783.1_Missense_Mutation_p.P217T|LIMA1_ENST00000552491.1_Missense_Mutation_p.P74T|LIMA1_ENST00000552008.1_5'UTR	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	376					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.P376I(2)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ATTGCTTTGGGAGGAGAACTT	0.448000													38	91					1.56793e-16	2.06188e-16	1	1	0
LAMC1	3915	broad.mit.edu	37	1	183091312	183091312	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:183091312C>A	ENST00000258341.4	+	13	2584	c.2327C>A	c.(2326-2328)cCt>cAt	p.P776H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	776	Laminin EGF-like 7.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.P776H(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTCCGTGTCCTGGAGGTTCA	0.537000													132	830					5.11096e-51	8.94012e-51	1	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072820	17072820	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:17072820C>G	ENST00000359963.3	-	1	880	c.621G>C	c.(619-621)gcG>gcC	p.A207A		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	207					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.A207A(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCCCGGGCAGCGCGCACACCC	0.617000													8	29					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35770394	35770394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:35770394G>T	ENST00000540320.1	+	31	5855	c.5321G>T	c.(5320-5322)aGa>aTa	p.R1774I	NBEA_ENST00000400445.3_Missense_Mutation_p.R1774I|NBEA_ENST00000310336.4_Missense_Mutation_p.R1774I|NBEA_ENST00000379939.2_Missense_Mutation_p.R1771I			Q8NFP9	NBEA_HUMAN	neurobeachin	1774						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.R1774I(2)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCATTGAAGAGAGAAACACAA	0.393000													48	114					7.36392e-32	1.16931e-31	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129635942	129635942	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:129635942G>T	ENST00000421865.2	+	24	3603	c.3555_splice	c.e24+1	p.W1185_splice		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1185	Laminin IV type A 2.				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	p.W1185F(2)		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)		ATCCGGACGTGGGTGAGTAGG	0.483000													59	93					7.59065e-32	1.20185e-31	1	1	0
GCN1L1	10985	broad.mit.edu	37	12	120614022	120614022	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:120614022T>A	ENST00000300648.6	-	10	851		c.e10-2			NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)						regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.?(2)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGAAATAGCTAAGGGGGACA	0.502000													67	114					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49831408	49831408	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:49831408C>A	ENST00000527477.1	+	0	1633																											ACTGCAACACCTACAAGTTTT	0.453000													20	29					3.5997e-14	4.59128e-14	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158607828	158607828	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158607828C>A	ENST00000368148.3	-	36	5364	c.5184G>T	c.(5182-5184)tgG>tgT	p.W1728C	SPTA1_ENST00000368147.3_Missense_Mutation_p.W1728C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1728					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.W1728C(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATACTCTATCCAGGATTCCT	0.408000													199	270					5.68149e-71	1.07209e-70	1	1	0
SLC8A1	6546	broad.mit.edu	37	2	40655830	40655830	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:40655830T>A	ENST00000406785.1	-	2	1780	c.1591A>T	c.(1591-1593)Att>Ttt	p.I531F	SLC8A1_ENST00000542756.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000402441.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.I531F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.I531F|SLC8A1_ENST00000405901.3_Missense_Mutation_p.I531F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000403092.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000332839.4_Missense_Mutation_p.I531F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	531	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.I531F(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCATCAAAAATAGTTACAGTG	0.438000													61	115					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168201305	168201305	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:168201305C>A	ENST00000519560.1	-	13	1649	c.1230G>T	c.(1228-1230)ctG>ctT	p.L410L	SLIT3_ENST00000332966.8_Silent_p.L410L|SLIT3_ENST00000404867.3_Silent_p.L410L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	410					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.L410L(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTTGTCATACAGGGAGAGCA	0.567000													289	422					7.22585e-116	1.4584e-115	1	1	0
DST	667	broad.mit.edu	37	6	56516041	56516041	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:56516041G>T	ENST00000370754.5	-	10	1116	c.1115_splice	c.e10-1	p.P373_splice	DST_ENST00000370788.2_Splice_Site_p.P195_splice|DST_ENST00000421834.2_Splice_Site_p.P195_splice|DST_ENST00000361203.3_Splice_Site_p.P195_splice|DST_ENST00000312431.6_Splice_Site_p.P195_splice|DST_ENST00000370769.4_Splice_Site_p.P195_splice			Q03001	DYST_HUMAN	dystonin	195					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.P195M(2)|p.P373M(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCAGGTCCGGCCTAGGAAAA	0.323000													19	23					1.01871e-10	1.20972e-10	1	1	0
CCDC136	64753	broad.mit.edu	37	7	128452071	128452071	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:128452071G>T	ENST00000297788.4	+	13	2613	c.2246G>T	c.(2245-2247)gGt>gTt	p.G749V	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	749						integral to membrane	protein binding	p.G749F(4)|p.G865F(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AAGAGCTATGGTAGCATGGTC	0.498000													104	115					4.22328e-53	7.43458e-53	1	1	0
GPR112	139378	broad.mit.edu	37	X	135431732	135431732	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:135431732C>T	ENST00000394143.1	+	6	6158	c.5867C>T	c.(5866-5868)tCa>tTa	p.S1956L	GPR112_ENST00000370652.1_Missense_Mutation_p.S1956L|GPR112_ENST00000287534.4_Missense_Mutation_p.S1893L|GPR112_ENST00000412101.1_Missense_Mutation_p.S1751L|GPR112_ENST00000394141.1_Missense_Mutation_p.S1751L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1956					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1956L(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAGAACCCTTCATTATCAACA	0.428000													419	368					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													3	44					0	0	1	0	0
TMEM40	55287	broad.mit.edu	37	3	12777053	12777053	+	Splice_Site	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:12777053C>T	ENST00000314124.7	-	11	1039		c.e11+1		TMEM40_ENST00000476331.1_Splice_Site|TMEM40_ENST00000435218.2_Splice_Site|TMEM40_ENST00000431022.2_Splice_Site|TMEM40_ENST00000264728.8_Splice_Site|TMEM40_ENST00000435575.1_Splice_Site	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40							integral to membrane		p.?(2)		breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TTAAAAGTTACCTGTCAGCCT	0.448000													26	132					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42989121	42989121	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:42989121G>C	ENST00000253408.5	-	5	890	c.825C>G	c.(823-825)ctC>ctG	p.L275L	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.L275L|GFAP_ENST00000435360.2_Silent_p.L275L	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	275	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.L275L(4)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGCCTGGCGGAGCAGCTCCG	0.677000													11	20					0	0	1	0	0
DHFRL1	200895	broad.mit.edu	37	3	93780055	93780055	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:93780055T>A	ENST00000394221.2	-	2	750	c.301A>T	c.(301-303)Act>Tct	p.T101S	DHFRL1_ENST00000481631.1_Intron|DHFRL1_ENST00000314636.2_Missense_Mutation_p.T101S	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	101	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding	p.T101S(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						GGTCGTTCAGTAAGTTTTAAG	0.378000													35	181					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77684057	77684057	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:77684057C>A	ENST00000461745.1	+	24	4697	c.3797C>A	c.(3796-3798)aCc>aAc	p.T1266N	ROBO2_ENST00000487694.3_Missense_Mutation_p.T1282N|ROBO2_ENST00000332191.8_Missense_Mutation_p.T1327N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1266					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.T1282N(2)|p.T1266N(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCTCGACCTACCAGCCCATTT	0.463000													93	175					5.09e-60	9.22563e-60	1	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113519512	113519512	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:113519512C>G	ENST00000284601.3	-	4	1703	c.1635G>C	c.(1633-1635)atG>atC	p.M545I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	545					glycogen metabolic process	integral to membrane		p.M545I(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TAGGGTTACCCATCTTCCTTT	0.413000													104	87					0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117289	46117289	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr21:46117289T>A	ENST00000400365.3	+	1	203	c.173T>A	c.(172-174)gTa>gAa	p.V58E	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	58	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.V58E(2)		large_intestine(1)|lung(8)	9						GTGAGCCGTGTATCCAGCCCC	0.692000													14	86					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34139979	34139979	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:34139979G>T	ENST00000257829.3	+	8	915	c.709G>T	c.(709-711)Gag>Tag	p.E237*	NAT10_ENST00000531159.2_Nonsense_Mutation_p.E165*|NAT10_ENST00000527971.1_Nonsense_Mutation_p.E237*	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	237						nucleolus	ATP binding|N-acetyltransferase activity|protein binding	p.E237*(2)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGAGCTGAGGGAGTTGAAGGA	0.532000													43	73					6.31075e-24	9.2726e-24	1	1	0
FER1L6	654463	broad.mit.edu	37	8	125083827	125083827	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:125083827G>A	ENST00000522917.1	+	31	4253	c.4047G>A	c.(4045-4047)ccG>ccA	p.P1349P	FER1L6_ENST00000399018.1_Silent_p.P1349P|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1349	C2 5.					integral to membrane		p.P1349P(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGGGATTCCGCCCAATCACC	0.527000													12	141					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55359150	55359150	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:55359150G>A	ENST00000536015.1	-	12	1228	c.1109C>T	c.(1108-1110)tCt>tTt	p.S370F	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.S370F	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	370					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S370F(2)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GAGGTACCAAGAGGAATTGCC	0.448000													20	56					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23517995	23517995	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:23517995C>A	ENST00000296682.3	+	5	489	c.307C>A	c.(307-309)Cct>Act	p.P103T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	103					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.P103T(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TTTAGTCAAACCTCCTTGGAT	0.358000										HNSCC(3;0.000094)			104	412					6.70566e-67	1.25674e-66	1	1	0
COX6B1	1340	broad.mit.edu	37	19	36145541	36145541	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:36145541C>T	ENST00000246554.3	+	3	367	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	COX6B1_ENST00000392201.1_Missense_Mutation_p.R59C|COX6B1_ENST00000592141.1_Missense_Mutation_p.R59C	NM_001863.4	NP_001854.1	P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	59					respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity	p.R76C(2)|p.R59C(2)		lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGGTACCAGCGTGTGTACCA	0.582000													34	135					0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58275002	58275002	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:58275002T>A	ENST00000360374.2	-	1	576	c.577A>T	c.(577-579)Agc>Tgc	p.S193C		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S193C(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACCAACTTGCTGATGCGTGTG	0.463000													41	249					0	0	1	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60015426	60015426	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:60015426G>A	ENST00000586569.1	+	2	139	c.101G>A	c.(100-102)tGt>tAt	p.C34Y	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.C34Y	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	34					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	p.C34Y(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GCTCCTCCATGTACCAGTGAG	0.483000													38	92					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52287227	52287227	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:52287227C>A	ENST00000356297.4	-	18	3722	c.3622G>T	c.(3622-3624)Ggt>Tgt	p.G1208C	PXDNL_ENST00000543296.1_Missense_Mutation_p.G1208C	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1208					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.G407C(2)|p.G1208C(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACTCTTGTACCAGGAATCAGG	0.478000													9	71					6.40141e-05	6.9025e-05	1	1	0
ALPI	248	broad.mit.edu	37	2	233321921	233321921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:233321921C>A	ENST00000295463.3	+	5	614	c.537C>A	c.(535-537)taC>taA	p.Y179*		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	179					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.Y179*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGGCACCTACGCACACACAG	0.607000													7	24					0.000157383	0.000169041	1	1	0
DPYSL5	56896	broad.mit.edu	37	2	27150120	27150120	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:27150120G>T	ENST00000288699.6	+	4	578		c.e4-1		DPYSL5_ENST00000401478.1_Splice_Site	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5						axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.?(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTTCTCCAGGTGAAAGCAG	0.577000													31	44					2.85442e-18	3.88342e-18	1	1	0
RASIP1	54922	broad.mit.edu	37	19	49224136	49224136	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:49224136G>T	ENST00000222145.4	-	12	3015	c.2811C>A	c.(2809-2811)ctC>ctA	p.L937L		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	937					signal transduction	Golgi stack|perinuclear region of cytoplasm		p.L937L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGAGGCGGCGGAGCCTACGGA	0.647000													4	27					0.00024832	0.000266195	1	1	0
ACSL6	23305	broad.mit.edu	37	5	131323838	131323838	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:131323838C>A	ENST00000379264.2	-	7	842	c.734G>T	c.(733-735)gGc>gTc	p.G245V	ACSL6_ENST00000379249.3_Missense_Mutation_p.G220V|ACSL6_ENST00000379244.1_Missense_Mutation_p.G220V|ACSL6_ENST00000379272.2_Missense_Mutation_p.G235V|ACSL6_ENST00000543479.1_Missense_Mutation_p.G220V|ACSL6_ENST00000379255.1_Missense_Mutation_p.G185V|ACSL6_ENST00000379240.1_Missense_Mutation_p.G220V|ACSL6_ENST00000379246.1_Missense_Mutation_p.G231V|ACSL6_ENST00000431707.1_Missense_Mutation_p.G200V|ACSL6_ENST00000544770.1_Missense_Mutation_p.G129V|ACSL6_ENST00000357096.1_Missense_Mutation_p.G185V|ACSL6_ENST00000296869.4_Missense_Mutation_p.G245V	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	220					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G245F(4)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCTTGAGGCCTGGAGTCTC	0.567000													170	198					2.91321e-64	5.3685e-64	1	1	0
DCHS1	8642	broad.mit.edu	37	11	6661905	6661905	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:6661905G>A	ENST00000299441.3	-	2	1351	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	314	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L314L(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTAACTGCAGCAGCCCCGTG	0.617000													7	48					0	0	1	0	0
HOXB8	3218	broad.mit.edu	37	17	46690585	46690585	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:46690585C>A	ENST00000239144.4	-	2	945	c.711G>T	c.(709-711)gcG>gcT	p.A237A	HOXB7_ENST00000567101.1_Intron|HOXB8_ENST00000576562.1_Silent_p.A236A	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	237						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A237A(2)		large_intestine(1)|lung(8)|urinary_tract(2)	11						CGCCCTTCTGCGCGTCGCCCT	0.706000													10	16					1.15919e-05	1.26729e-05	1	1	0
PTK2B	2185	broad.mit.edu	37	8	27312084	27312084	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:27312084G>T	ENST00000397501.1	+	35	3578	c.2770G>T	c.(2770-2772)Gtg>Ttg	p.V924L	PTK2B_ENST00000517339.1_Missense_Mutation_p.V882L|PTK2B_ENST00000420218.2_Missense_Mutation_p.V882L|PTK2B_ENST00000346049.5_Missense_Mutation_p.V924L|PTK2B_ENST00000338238.4_Missense_Mutation_p.V882L|PTK2B_ENST00000544172.1_Missense_Mutation_p.V924L	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	924	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.V924L(4)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CATCGGGAGCGTGGATGATCT	0.587000													11	32					2.61681e-11	3.14818e-11	1	1	0
FLNC	2318	broad.mit.edu	37	7	128487758	128487758	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:128487758G>A	ENST00000325888.8	+	25	4557	c.4296G>A	c.(4294-4296)ccG>ccA	p.P1432P	FLNC_ENST00000346177.6_Silent_p.P1432P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1432					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.P1432P(3)		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						CAGGGAGCCCGTTCCGCGTGC	0.647000													11	42					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	549257	549257	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:549257C>G	ENST00000230449.4	-	22	2291	c.2156G>C	c.(2155-2157)tGc>tCc	p.C719S	EXOC2_ENST00000448181.3_Missense_Mutation_p.C314S	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	719					exocytosis|protein transport			p.C719S(2)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTCTAGATAGCAGCAATTACT	0.373000													81	341					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	RNA	SNP	T	T	A	rs6583274	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884																											CCCTTTGAGGTGCACTGGAGG	0.567000													4	32					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30492758	30492758	+	Splice_Site	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:30492758A>G	ENST00000356798.6	+	7	756		c.e7-1		RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_Splice_Site|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Splice_Site	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)						blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.?(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTCCTTTTCTAGTTTGCTGCT	0.338000													28	22					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143096426	143096426	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:143096426C>A	ENST00000275815.3	-	5	1002	c.916G>T	c.(916-918)Gag>Tag	p.E306*		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	306	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E306*(4)|p.E306K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GTGGCCCCCTCAGACTCAGCA	0.657000													24	17					4.26978e-12	5.19348e-12	1	1	0
DHX29	54505	broad.mit.edu	37	5	54572988	54572988	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:54572988T>C	ENST00000251636.5	-	13	2380	c.2232A>G	c.(2230-2232)acA>acG	p.T744T	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	744	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	p.T744T(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GTGTGAAATATGTAGAAAATT	0.363000													38	176					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34064246	34064246	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:34064246C>A	ENST00000389232.4	+	63	9012	c.8942C>A	c.(8941-8943)aCg>aAg	p.T2981K	RYR3_ENST00000415757.3_Missense_Mutation_p.T2981K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2981					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.T2981K(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATTCCCGAACGCAGATTAAA	0.463000													14	53					3.45872e-05	3.75888e-05	1	1	0
OR6K3	391114	broad.mit.edu	37	1	158687606	158687606	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158687606C>A	ENST00000368146.1	-	1	347	c.348G>T	c.(346-348)caG>caT	p.Q116H	OR6K3_ENST00000368145.1_Missense_Mutation_p.Q100H			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q116H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGAAATACATCTGCAAGATGC	0.483000													115	695					3.31366e-66	6.18924e-66	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139749775	139749775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:139749775C>A	ENST00000303045.6	-	23	2577	c.2131G>T	c.(2131-2133)Ggg>Tgg	p.G711W	COL22A1_ENST00000435777.1_Missense_Mutation_p.G711W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	711	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G711W(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCTGCAGCCCCAGCAATCCA	0.473000										HNSCC(7;0.00092)			24	224					3.80469e-20	5.33432e-20	1	1	0
COX6B2	125965	broad.mit.edu	37	19	55865866	55865866	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:55865866C>A	ENST00000593184.1	-	2	103	c.24G>T	c.(22-24)gaG>gaT	p.E8D	COX6B2_ENST00000588572.1_Missense_Mutation_p.E8D|COX6B2_ENST00000590900.1_Missense_Mutation_p.E8D|CTD-2105E13.6_ENST00000591954.3_3'UTR|COX6B2_ENST00000326529.4_Missense_Mutation_p.E8D			Q6YFQ2	CX6B2_HUMAN	cytochrome c oxidase subunit VIb polypeptide 2 (testis)	8						mitochondrial crista|mitochondrial intermembrane space	cytochrome-c oxidase activity	p.E8D(2)		endometrium(1)|kidney(1)|lung(2)|pancreas(1)	5	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCTTGGGGGGCTCCTGGGCTT	0.667000													5	35					0.00116845	0.00123336	1	1	0
SAA4	6291	broad.mit.edu	37	11	18253967	18253967	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:18253967C>A	ENST00000278222.4	-	3	385	c.205G>T	c.(205-207)Ggt>Tgt	p.G69C	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2			serum amyloid A4, constitutive									p.G69C(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GCCCAGACACCCCCAGGTCCT	0.507000													83	403					6.42612e-47	1.1065e-46	1	1	0
OR2T27	403239	broad.mit.edu	37	1	248813304	248813304	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:248813304G>T	ENST00000344889.3	-	1	881	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N294K(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGACATCCTTGTTCCTAAGGC	0.478000													110	166					3.83347e-80	7.41138e-80	1	1	0
RORB	6096	broad.mit.edu	37	9	77257566	77257566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:77257566G>T	ENST00000376896.2	+	4	1084	c.472G>T	c.(472-474)Gtc>Ttc	p.V158F	RORB_ENST00000396204.2_Missense_Mutation_p.V169F	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	169	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.V158F(2)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TTATTACAACGTCGATTCCGG	0.512000													60	98					1.80625e-27	2.73419e-27	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745809	77745809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:77745809G>T	ENST00000409088.3	-	3	1600	c.1186C>A	c.(1186-1188)Caa>Aaa	p.Q396K	LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q397K|LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q396K|LRRTM4_ENST00000409093.1_Missense_Mutation_p.Q396K|LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q397K	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	396						integral to membrane		p.Q396K(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGGTGGATTGGGTGACGTCA	0.493000													8	103					0.000673444	0.000713592	1	1	0
RNASE2	6036	broad.mit.edu	37	14	21424301	21424301	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:21424301G>C	ENST00000304625.2	+	2	461	c.371G>C	c.(370-372)aGg>aCg	p.R124T		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	124					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	p.R124T(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TCAAACTGCAGGTATGCGCAG	0.458000													174	454					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995244	140995244	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:140995244G>A	ENST00000285879.4	+	4	2340	c.2054G>A	c.(2053-2055)gGg>gAg	p.G685E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	685							protein binding	p.G685E(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCTGAGGGGGAGGATTCC	0.577000										HNSCC(15;0.026)			68	61					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168093468	168093468	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:168093468C>A	ENST00000519560.1	-	36	4982	c.4563G>T	c.(4561-4563)gcG>gcT	p.A1521A	CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Silent_p.A1528A	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1521	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.A1521A(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTAGGAACACGCGAGGCAGC	0.612000													6	13					0.0215528	0.0219512	1	1	0
APOC4-APOC2	100533990	broad.mit.edu	37	19	45448098	45448098	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:45448098C>A	ENST00000419266.2	+	2	209	c.169C>A	c.(169-171)Ctg>Atg	p.L57M	APOC4-APOC2_ENST00000436871.1_Missense_Mutation_p.L57M|APOC4_ENST00000591600.1_Missense_Mutation_p.L57M|APOC4_ENST00000592954.1_Missense_Mutation_p.L57M|APOC4-APOC2_ENST00000589057.1_Missense_Mutation_p.L57M														p.L57M(1)									GATGAAGGAGCTGCTGGAGAC	0.627000													4	15					0.150653	0.150653	1	1	0
KRTAP3-1	83896	broad.mit.edu	37	17	39165133	39165133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:39165133C>G	ENST00000391588.1	-	1	233	c.194G>C	c.(193-195)tGc>tCc	p.C65S	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	65						keratin filament	structural molecule activity	p.C65S(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				GAGCAGCCAGCAAGTTGGCAC	0.597000													43	48					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826786	46826786	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:46826786T>C	ENST00000283296.7	-	17	3142	c.2854A>G	c.(2854-2856)Acg>Gcg	p.T952A	GPR116_ENST00000265417.7_Missense_Mutation_p.T952A|GPR116_ENST00000545669.1_Missense_Mutation_p.T381A|GPR116_ENST00000456426.2_Missense_Mutation_p.T810A|GPR116_ENST00000362015.4_Missense_Mutation_p.T952A	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	952	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T952A(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ACACACTTCGTTTCGCCGCCT	0.488000													53	194					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531657	92531657	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:92531657G>T	ENST00000298047.6	+	9	5495	c.5478G>T	c.(5476-5478)gtG>gtT	p.V1826V	FAT3_ENST00000409404.2_Silent_p.V1826V|FAT3_ENST00000525166.1_Silent_p.V1676V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1826	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1826V(4)		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)				TTTTCACGGTGGACTCCAGTA	0.488000										TCGA Ovarian(4;0.039)			31	30					6.90743e-12	8.36482e-12	1	1	0
SEPT10	151011	broad.mit.edu	37	2	110301779	110301779	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:110301779A>C	ENST00000356688.4	-	12	1870	c.1555T>G	c.(1555-1557)Ttt>Gtt	p.F519V	SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR			Q9P0V9	SEP10_HUMAN	septin 10	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGTTCACCAAATATAGAAGTG	0.338000													5	2					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112356170	112356170	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:112356170C>T	ENST00000361804.4	+	19	2104	c.1978C>T	c.(1978-1980)Cat>Tat	p.H660Y		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	660	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	p.H660Y(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CCAAGTCAGCCATCGGGGTGC	0.358000													57	113					0	0	1	0	0
PIAS3	10401	broad.mit.edu	37	1	145578690	145578690	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:145578690C>T	ENST00000393045.2	+	3	586	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	PIAS3_ENST00000369298.1_Missense_Mutation_p.P131S|PIAS3_ENST00000369299.3_Missense_Mutation_p.P157S	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	166	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	p.P157S(2)|p.P166S(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCCCTCACACCCCAGCAAGT	0.527000													48	287					0	0	1	0	0
PILRA	29992	broad.mit.edu	37	7	99971855	99971855	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:99971855A>T	ENST00000198536.2	+	2	465	c.253A>T	c.(253-255)Agg>Tgg	p.R85W	PILRA_ENST00000453419.1_Missense_Mutation_p.R85W|PILRA_ENST00000394000.2_Missense_Mutation_p.R85W|PILRA_ENST00000350573.2_Missense_Mutation_p.R85W|PILRA_ENST00000474013.1_3'UTR	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	85	Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	p.R85W(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTACAGCACAAGGCCGCCTTC	0.552000													49	45					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73768561	73768561	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:73768561C>T	ENST00000334126.7	-	25	5206	c.4980G>A	c.(4978-4980)tcG>tcA	p.S1660S	C2CD3_ENST00000313663.7_Silent_p.S1660S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1660	C2 2.					centrosome		p.S1660S(4)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AACTGGGTATCGATACTTTCC	0.448000													51	279					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9757860	9757860	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:9757860G>T	ENST00000262441.5	+	5	1066	c.553G>T	c.(553-555)Gga>Tga	p.G185*	GLP2R_ENST00000574745.1_Nonsense_Mutation_p.G5*	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	185					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.G185*(2)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GTACACCGTGGGATACTCCTT	0.517000													243	652					4.07785e-146	8.35276e-146	1	1	0
RASAL2	9462	broad.mit.edu	37	1	178252789	178252789	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:178252789C>T	ENST00000448150.3	+	2	1057	c.239C>T	c.(238-240)aCa>aTa	p.T80I	RASAL2_ENST00000367649.3_Missense_Mutation_p.T98I|RASAL2_ENST00000465723.1_3'UTR	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.T80L(2)|p.T98L(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGCATCCTCACAGACAGCCAG	0.463000													129	792					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624298	53624298	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:53624298C>A	ENST00000219022.2	+	5	1003	c.925C>A	c.(925-927)Ctg>Atg	p.L309M		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	309	Olfactomedin-like.				cell adhesion	extracellular space		p.L309M(2)		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)		GTACAACACACTGGATGATTT	0.433000													71	193					2.14232e-31	3.36302e-31	1	1	0
ATPAF1	64756	broad.mit.edu	37	1	47131032	47131032	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:47131032C>A	ENST00000576409.1	-	2	402	c.340G>T	c.(340-342)Gac>Tac	p.D114Y	ATPAF1_ENST00000329231.4_Missense_Mutation_p.D114Y|ATPAF1_ENST00000574428.1_Missense_Mutation_p.D91Y|ATPAF1_ENST00000542495.1_5'UTR|ATPAF1_ENST00000371937.4_Missense_Mutation_p.D91Y|ATPAF1_ENST00000525633.1_5'UTR|EFCAB14_ENST00000544071.1_Missense_Mutation_p.Q375H|ATPAF1_ENST00000532925.1_Missense_Mutation_p.D3Y			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	91					protein complex assembly	mitochondrion	protein binding	p.D91Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GCAGCTGGGTCTGACCTGATC	0.463000													6	8					5.9392e-07	6.67857e-07	1	1	0
MUC16	94025	broad.mit.edu	37	19	9069492	9069492	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:9069492C>A	ENST00000397910.4	-	3	18157	c.17954G>T	c.(17953-17955)aGt>aTt	p.S5985I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5987	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S5985I(4)|p.S1618I(2)		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						GCTACTTGCACTTGGTAAGGA	0.478000													90	488					2.46799e-47	4.26288e-47	1	1	0
CECR5	27440	broad.mit.edu	37	22	17630516	17630516	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:17630516C>G	ENST00000336737.4	-	2	271	c.246G>C	c.(244-246)cgG>cgC	p.R82R	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Silent_p.R52R|CECR5_ENST00000480451.1_5'UTR	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	82							hydrolase activity	p.R82R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CCACGGGCACCCGCAGCTGCC	0.587000													33	46					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440930	124440930	+	Missense_Mutation	SNP	G	G	T	rs145520583		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:124440930G>T	ENST00000284287.3	+	1	1038	c.966G>T	c.(964-966)agG>agT	p.R322S		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R322S(2)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AAACGCTGAGGGGTAAACTGT	0.443000													94	164					1.18697e-83	2.31922e-83	1	1	0
NEK1	4750	broad.mit.edu	37	4	170428198	170428198	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:170428198C>A	ENST00000439128.2	-	21	2553	c.1913G>T	c.(1912-1914)tGg>tTg	p.W638L	NEK1_ENST00000512193.1_Missense_Mutation_p.W569L|NEK1_ENST00000507142.1_Missense_Mutation_p.W666L|NEK1_ENST00000510533.1_Missense_Mutation_p.W594L|NEK1_ENST00000511633.1_Missense_Mutation_p.W622L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	638					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.W666L(4)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ATGCTCTTCCCACACTTTTTT	0.348000													26	129					1.17739e-12	1.43846e-12	1	1	0
PRKCB	5579	broad.mit.edu	37	16	24166177	24166177	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:24166177T>A	ENST00000303531.7	+	10	1390	c.1239_splice	c.e10+1	p.M413_splice	PRKCB_ENST00000321728.7_Splice_Site_p.M413_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	413	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.M413N(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTCCAGACCATGGTAACTTGT	0.587000													47	40					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33400564	33400564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:33400564C>T	ENST00000418600.2	+	5	591	c.490C>T	c.(490-492)Cga>Tga	p.R164*	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Nonsense_Mutation_p.R164*|SYNGAP1_ENST00000428982.2_Nonsense_Mutation_p.R105*	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	164	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	p.R149*(1)|p.R164*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GCCTCGCTTCCGAAGTGCTGA	0.547000													15	109					0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5981934	5981934	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:5981934C>G	ENST00000531445.1	-	2	1603	c.1557G>C	c.(1555-1557)gaG>gaC	p.E519D	C4orf50_ENST00000324058.5_Missense_Mutation_p.E45D			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	45								p.E45D(2)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GGCGGGTGGCCTCGTCCAGAG	0.677000													3	1					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150948412	150948412	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:150948412G>T	ENST00000261800.5	-	1	93	c.81C>A	c.(79-81)tcC>tcA	p.S27S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	27					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.S27S(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGAGGAGGAGAGAATCC	0.483000													72	106					5.02053e-37	8.25765e-37	1	1	0
FBXO21	23014	broad.mit.edu	37	12	117604777	117604777	+	Silent	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:117604777T>A	ENST00000427718.2	-	8	1193	c.1119A>T	c.(1117-1119)gcA>gcT	p.A373A	FBXO21_ENST00000330622.5_Silent_p.A373A	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	373					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.A373A(2)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CATACAGTGCTGCAGTCACGT	0.478000													64	281					0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153430349	153430349	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:153430349C>A	ENST00000368723.3	-	3	349	c.239G>T	c.(238-240)gGa>gTa	p.G80V	S100A7_ENST00000368722.1_Missense_Mutation_p.G80V	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	80	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	p.G80V(2)		breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTATGTCTCCCAGCAAGGA	0.527000													29	213					4.22769e-11	5.06404e-11	1	1	0
RASAL1	8437	broad.mit.edu	37	12	113553049	113553049	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:113553049G>C	ENST00000546530.1	-	12	1309	c.1024C>G	c.(1024-1026)Cgt>Ggt	p.R342G	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.R342G|RASAL1_ENST00000446861.3_Missense_Mutation_p.R342G|RASAL1_ENST00000261729.5_Missense_Mutation_p.R342G	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	342	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	p.R342G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GAGTTAGAACGGAAGAGGGTG	0.577000													15	51					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30585000	30585000	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:30585000G>T	ENST00000217299.3	+	3	1654	c.1480G>T	c.(1480-1482)Ggg>Tgg	p.G494W		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	494						integral to membrane		p.G494W(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAGCGTGCAGGGACCCCCAC	0.692000													4	8					0.0215528	0.0219512	1	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378427	31378427	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:31378427G>A	ENST00000297142.3	-	2	778	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	152					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.I152I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GTCTCTTGCCGATTCTCAGAA	0.458000													28	334					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133673737	133673737	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:133673737G>T	ENST00000519595.1	-	2	245	c.147C>A	c.(145-147)ctC>ctA	p.L49L	LRRC6_ENST00000518642.1_Silent_p.L49L|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Silent_p.L49L			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	49						cytoplasm		p.L49L(2)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTTGAAGATAGAGAATTTTTA	0.358000													8	26					1.58986e-06	1.77691e-06	1	1	0
NAALAD2	10003	broad.mit.edu	37	11	89891342	89891342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:89891342G>T	ENST00000534061.1	+	7	1056	c.826G>T	c.(826-828)Gga>Tga	p.G276*	NAALAD2_ENST00000321955.4_Nonsense_Mutation_p.G276*|NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	276	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.G276*(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGTTGAAGAAGGAGTGGGAAT	0.313000													51	87					4.14589e-37	6.83948e-37	1	1	0
OR8B3	390271	broad.mit.edu	37	11	124266919	124266919	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:124266919G>T	ENST00000354597.3	-	1	345	c.329C>A	c.(328-330)tCt>tAt	p.S110Y		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S110Y(2)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GTAACATTCAGAGATGACAAA	0.383000													49	52					1.45723e-30	2.26817e-30	1	1	0
NRTN	4902	broad.mit.edu	37	19	5824276	5824276	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:5824276G>A	ENST00000303212.2	+	1	464	c.100G>A	c.(100-102)Gga>Aga	p.G34R		NM_004558.3	NP_004549.1	Q99748	NRTN_HUMAN	neurturin	34					axon guidance|MAPKKK cascade|neural crest cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region	growth factor activity			large_intestine(1)	1						CCACCGCCTCGGACCTGCGCT	0.672000													2	3					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67833708	67833708	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:67833708G>T	ENST00000262345.1	+	10	2099	c.1459_splice	c.e10+1	p.E487_splice	IL12RB2_ENST00000371000.1_Splice_Site_p.E487_splice|IL12RB2_ENST00000544434.1_Splice_Site_p.E487_splice|IL12RB2_ENST00000541374.1_Splice_Site_p.E487_splice	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	487	Fibronectin type-III 4.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.E487*(2)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TCTGATTTCAGGTACCTAATT	0.502000													15	195					6.49762e-13	7.95597e-13	1	1	0
SLC44A1	23446	broad.mit.edu	37	9	108127811	108127811	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:108127811G>T	ENST00000374720.3	+	11	1548	c.1301G>T	c.(1300-1302)cGc>cTc	p.R434L	SLC44A1_ENST00000343170.7_Missense_Mutation_p.R226L|SLC44A1_ENST00000374723.1_Missense_Mutation_p.R434L|SLC44A1_ENST00000374724.1_Missense_Mutation_p.R434L	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	434						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.R434L(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TCAGTAAATCGCCTTATTCGT	0.363000													23	156					6.21321e-17	8.2893e-17	1	1	0
GUCY2F	2986	broad.mit.edu	37	X	108652325	108652325	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:108652325C>A	ENST00000218006.2	-	9	2155	c.1864G>T	c.(1864-1866)Gtg>Ttg	p.V622L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	622	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.V622L(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AATTCTGTCACAATGGCAAAC	0.408000													187	197					1.41373e-77	2.72366e-77	1	1	0
MOXD1	26002	broad.mit.edu	37	6	132649636	132649636	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:132649636C>T	ENST00000367963.3	-	5	879	c.761G>A	c.(760-762)gGc>gAc	p.G254D	MOXD1_ENST00000336749.3_Missense_Mutation_p.G186D	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	254					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.G186D(2)|p.G254D(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GCACTCGTGGCCGGACTCCAG	0.517000													77	93					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9967991	9967991	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:9967991C>T	ENST00000264833.4	-	4	713	c.528G>A	c.(526-528)caG>caA	p.Q176Q	OLFM2_ENST00000590841.1_Silent_p.Q98Q	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	176						extracellular region		p.Q176Q(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCACCCGTTGCTGCAGGTCCT	0.647000													26	66					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35737029	35737029	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:35737029T>C	ENST00000400441.3	-	23	2952	c.2953A>G	c.(2953-2955)Agg>Ggg	p.R985G	MROH8_ENST00000466091.1_5'UTR|MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000217333.8_Missense_Mutation_p.R814G					maestro heat-like repeat family member 8									p.R985G(2)									GTACCCATCCTCCTGAGCTCA	0.453000													7	10					0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883304	19883304	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:19883304G>T	ENST00000300571.2	-	2	1055	c.864C>A	c.(862-864)gcC>gcA	p.A288A	GPRC5B_ENST00000537135.1_Silent_p.A314A|GPRC5B_ENST00000569847.1_Silent_p.A288A|GPRC5B_ENST00000569479.1_Silent_p.A288A|GPRC5B_ENST00000535671.1_Silent_p.A288A	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	288								p.A288A(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCTCAGGGATGGCGTGGAAGA	0.637000													26	16					5.61819e-17	7.51364e-17	1	1	0
OR51B5	282763	broad.mit.edu	37	11	5364170	5364170	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:5364170C>G	ENST00000300773.2	-	1	639	c.585G>C	c.(583-585)ctG>ctC	p.L195L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L195L(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCTGGGTACAGTCGGTTGA	0.423000													126	228					0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338093	151338093	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:151338093C>A	ENST00000435071.1	-	9	1260	c.798G>T	c.(796-798)ggG>ggT	p.G266G	SELENBP1_ENST00000368868.5_Silent_p.G330G|SELENBP1_ENST00000447402.3_Silent_p.G268G|SELENBP1_ENST00000426705.2_Silent_p.G372G			Q13228	SBP1_HUMAN	selenium binding protein 1	330					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	p.G330G(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCAGGTCCCCATGCAGCC	0.592000													96	117					8.26238e-36	1.35091e-35	1	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47422455	47422455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:47422455G>T	ENST00000404338.3	+	1	523	c.523G>T	c.(523-525)Gat>Tat	p.D175Y		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	175					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.D175Y(4)									TAGGAACTTTGATGACCAGCT	0.453000													26	176					2.2171e-23	3.249e-23	1	1	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		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)		agcagcaacaacagcagcagc	0.567000													5	20					0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121107308	121107308	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:121107308G>T	ENST00000295228.3	+	2	1128	c.1082G>T	c.(1081-1083)cGg>cTg	p.R361L		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	361					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	p.R361L(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TACCGCATGCGGGGTCTGAAC	0.607000													15	10					2.62699e-14	3.3584e-14	1	1	0
TRIML1	339976	broad.mit.edu	37	4	189068316	189068316	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:189068316C>A	ENST00000332517.3	+	6	1337	c.1197C>A	c.(1195-1197)caC>caA	p.H399Q	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	399	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.H399Q(3)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGGTCAGCACGTCAGAGAGC	0.488000													31	103					6.50621e-10	7.6113e-10	1	1	0
TLCD1	116238	broad.mit.edu	37	17	27051724	27051724	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:27051724C>A	ENST00000292090.3	-	4	658	c.548G>T	c.(547-549)cGc>cTc	p.R183L	TLCD1_ENST00000394933.3_Missense_Mutation_p.R136L	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	183	TLC.					integral to membrane		p.R183L(2)		breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					AGGGGCCAGGCGGAAGAGAAA	0.517000													6	43					5.18039e-06	5.73172e-06	1	1	0
CASC3	22794	broad.mit.edu	37	17	38318060	38318060	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:38318060G>A	ENST00000264645.7	+	4	578	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	118					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	p.E118K(2)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCTGAAATCAGAAGCTAATGA	0.438000													69	80					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18688221	18688221	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:18688221C>G	ENST00000406451.3	+	11	1523	c.1373C>G	c.(1372-1374)aCg>aGg	p.T458R	HDAC9_ENST00000456174.2_Missense_Mutation_p.T430R|HDAC9_ENST00000432645.2_Missense_Mutation_p.T458R|HDAC9_ENST00000405010.3_Missense_Mutation_p.T458R|HDAC9_ENST00000441542.2_Missense_Mutation_p.T461R|HDAC9_ENST00000401921.1_Missense_Mutation_p.T417R|HDAC9_ENST00000428307.2_Missense_Mutation_p.T414R|HDAC9_ENST00000524023.1_Missense_Mutation_p.T381R|HDAC9_ENST00000406072.1_Missense_Mutation_p.T445R|HDAC9_ENST00000417496.2_Missense_Mutation_p.T456R	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	458					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.T461R(4)|p.T456R(2)|p.T458R(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTCAGAGCACGTTGGCTCAG	0.507000													66	183					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													3	41					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79296927	79296927	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:79296927G>T	ENST00000264895.6	+	26	3626	c.3186G>T	c.(3184-3186)agG>agT	p.R1062S	FRAS1_ENST00000325942.6_Missense_Mutation_p.R1062S	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1061					cell communication	integral to membrane|plasma membrane	metal ion binding	p.R1062I(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCAGCCACAGGGACCGTTGTC	0.478000													14	34					8.60227e-14	1.07724e-13	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57180982	57180982	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:57180982C>A	ENST00000504228.1	+	6	1419	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P	KIAA1211_ENST00000541073.1_Silent_p.P431P|KIAA1211_ENST00000264229.6_Silent_p.P438P			Q6ZU35	K1211_HUMAN	KIAA1211	438	Glu-rich.							p.P438P(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCCTGAAACCCGAAGGACAAA	0.612000													5	14					0.0215528	0.0219512	1	1	0
FBN3	84467	broad.mit.edu	37	19	8183790	8183790	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:8183790C>G	ENST00000600128.1	-	26	3742	c.3328G>C	c.(3328-3330)Gcc>Ccc	p.A1110P	FBN3_ENST00000601739.1_Missense_Mutation_p.A1110P|FBN3_ENST00000270509.2_Missense_Mutation_p.A1110P			Q75N90	FBN3_HUMAN	fibrillin 3	1110	EGF-like 14; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.A1110P(2)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCTCACAGGCAGTGCCCTTG	0.587000													18	161					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198266709	198266709	+	Splice_Site	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:198266709C>G	ENST00000335508.5	-	15	2314	c.2223_splice	c.e15+1	p.K741_splice		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	741					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.K741N(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTGGATTTACCTTTCCTCTGT	0.343000			Mis		myelodysplastic syndrome								32	54					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203821496	203821496	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:203821496T>C	ENST00000545588.1	+	17	6229	c.2402T>C	c.(2401-2403)cTg>cCg	p.L801P	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L801P	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	801							nucleic acid binding|protein binding|zinc ion binding	p.L801P(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGACCTTCTGCTTGAGCTA	0.388000													3	55					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077218	19077218	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:19077218G>C	ENST00000329773.2	-	2	819	c.732C>G	c.(730-732)ttC>ttG	p.F244L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	244					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.F244L(2)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ATAATATTAGGAACCACTGAA	0.502000													59	295					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27329206	27329206	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:27329206T>A	ENST00000429845.2	-	21	2134	c.1772A>T	c.(1771-1773)tAc>tTc	p.Y591F	NEK10_ENST00000341435.5_Missense_Mutation_p.Y591F|NEK10_ENST00000357467.2_5'UTR			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	591	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Y591F(3)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAATGTTTTGTAATAACGTAC	0.264000													38	178					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141755521	141755521	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:141755521C>A	ENST00000475668.2	+	28	3532	c.3478C>A	c.(3478-3480)Cca>Aca	p.P1160T	MGAM_ENST00000549489.2_Missense_Mutation_p.P1160T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1160	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1160T(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACCAGCCCCCAGGGGTAAG	0.547000													53	28					7.71302e-15	9.92961e-15	1	1	0
PPIG	9360	broad.mit.edu	37	2	170493475	170493475	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:170493475G>T	ENST00000260970.3	+	14	1927	c.1707G>T	c.(1705-1707)agG>agT	p.R569S	PPIG_ENST00000448752.2_Missense_Mutation_p.R569S|PPIG_ENST00000409714.3_Missense_Mutation_p.R554S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	569	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R569T(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GCAGAAGTAGGGACAGAAGCA	0.438000													31	203					1.30998e-17	1.76479e-17	1	1	0
KRT28	162605	broad.mit.edu	37	17	38950232	38950232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:38950232G>A	ENST00000306658.7	-	6	1110	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	349	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.Q349*(2)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				ATCTGAGCCTGGATCTGCGCC	0.582000													116	134					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127686687	127686687	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:127686687C>A	ENST00000508053.1	-	27	3659	c.2685G>T	c.(2683-2685)aaG>aaT	p.K895N	FBN2_ENST00000262464.4_Missense_Mutation_p.K895N|FBN2_ENST00000508989.1_Missense_Mutation_p.K862N			P35556	FBN2_HUMAN	fibrillin 2	895					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.K895N(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AACAGGTCCCCTTCAGGCTGT	0.493000													71	78					9.13743e-30	1.41029e-29	1	1	0
HUS1B	135458	broad.mit.edu	37	6	656317	656317	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:656317G>A	ENST00000380907.2	-	1	646	c.628C>T	c.(628-630)Cct>Tct	p.P210S	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	210								p.P210S(2)		endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GACTGGGGAGGGTTTCCAAGA	0.517000													46	130					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56954088	56954088	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:56954088G>T	ENST00000504904.3	-	7	995	c.276C>A	c.(274-276)acC>acA	p.T92T	ZNF667_ENST00000342634.3_Silent_p.T220T|ZNF667_ENST00000292069.6_Silent_p.T92T|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T92T(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTAACTTCTTGGTCTCACATT	0.373000													53	88					2.93687e-30	4.55836e-30	1	1	0
MYH6	4624	broad.mit.edu	37	14	23863047	23863047	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:23863047G>A	ENST00000405093.3	-	22	2826	c.2756C>T	c.(2755-2757)gCc>gTc	p.A919V	MYH6_ENST00000356287.3_Missense_Mutation_p.A919V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	919					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.A919V(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTTACTTTGGCCTCCAGCTG	0.527000													14	52					0	0	1	0	0
ATPIF1	93974	broad.mit.edu	37	1	28564412	28564412	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:28564412A>C	ENST00000335514.5	+	3	295	c.244A>C	c.(244-246)Aag>Cag	p.K82Q	ATPIF1_ENST00000465645.1_3'UTR|ATPIF1_ENST00000468425.2_Intron|ATPIF1_ENST00000497986.1_3'UTR	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	82					angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity	p.K82Q(2)		lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CGTTCATCATAAGAAGGAGAT	0.408000													39	47					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15607507	15607507	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:15607507C>G	ENST00000427411.1	-	6	872	c.656G>C	c.(655-657)cGc>cCc	p.R219P	ACE2_ENST00000252519.3_Missense_Mutation_p.R219P	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	219					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	p.R219P(2)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CAACTGGCCGCGGCTGTAGTC	0.423000													123	303					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53472546	53472546	+	RNA	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:53472546C>T	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							CTTCATTATGCATTCTCCAAT	0.358000													12	22					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100340162	100340162	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:100340162C>A	ENST00000437033.2	-	7	1445	c.942G>T	c.(940-942)tgG>tgT	p.W314C	ADH7_ENST00000482593.1_Missense_Mutation_p.W257C|ADH7_ENST00000476959.1_Missense_Mutation_p.W334C|ADH7_ENST00000209665.4_Missense_Mutation_p.W326C			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	326					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	p.W326C(2)|p.W334C(2)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CACATCCCTTCCATGTGCGTC	0.537000													66	187					8.70839e-23	1.26605e-22	1	1	0
RYR3	6263	broad.mit.edu	37	15	34018617	34018617	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:34018617C>A	ENST00000389232.4	+	46	7013	c.6943C>A	c.(6943-6945)Cgc>Agc	p.R2315S	RYR3_ENST00000415757.3_Missense_Mutation_p.R2315S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2315	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2315S(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAGCCATCCGCATCAGGTC	0.552000													3	20					2.56e-06	2.97774e-06	0.009096	1	0
SLC6A18	348932	broad.mit.edu	37	5	1244882	1244882	+	Splice_Site	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:1244882C>T	ENST00000324642.3	+	11	1779	c.1656_splice	c.e11+1	p.Y552_splice		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	552					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.Y552Y(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACCCCAAATACGTAGGTCCTT	0.612000													7	127					0	0	0.047766	0	0
IRX4	50805	broad.mit.edu	37	5	1878835	1878835	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:1878835G>T	ENST00000505790.1	-	6	1264	c.808C>A	c.(808-810)Ccg>Acg	p.P270T	IRX4_ENST00000513692.1_Missense_Mutation_p.P270T|IRX4_ENST00000231357.2_Missense_Mutation_p.P270T	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	270					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P270T(1)		endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CACGCCGGCGGCTCTGCTTCC	0.697000													17	36					3.41278e-10	4.51787e-10	0.033300	1	0
DNAH3	55567	broad.mit.edu	37	16	20976235	20976235	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:20976235G>A	ENST00000261383.3	-	53	8970	c.8971C>T	c.(8971-8973)Cgc>Tgc	p.R2991C	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2991					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2991C(4)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTAGTATAGCGGATCCCCAGC	0.532000													80	62					0	0	0.048971	0	0
ALPK2	115701	broad.mit.edu	37	18	56202436	56202436	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:56202436C>A	ENST00000361673.3	-	5	5196	c.4983G>T	c.(4981-4983)gaG>gaT	p.E1661D		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1661							ATP binding|protein serine/threonine kinase activity	p.E1022D(2)|p.E1661D(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTTCTCTAACTCACGTTCTC	0.498000													15	143					2.31682e-05	2.6182e-05	0.024245	1	0
ELMO1	9844	broad.mit.edu	37	7	37298871	37298871	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:37298871G>T	ENST00000310758.4	-	6	975	c.328C>A	c.(328-330)Ctc>Atc	p.L110I	ELMO1_ENST00000448602.1_Missense_Mutation_p.L110I|ELMO1_ENST00000442504.1_Missense_Mutation_p.L110I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	110					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.S109_L110>RI(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCCCGGGAGAGGCTGGCCAAG	0.547000													66	65					5.00936e-31	9.50581e-31	0.048971	1	0
FRMD4A	55691	broad.mit.edu	37	10	13782541	13782541	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:13782541G>A	ENST00000357447.2	-	10	953	c.585C>T	c.(583-585)aaC>aaT	p.N195N	RP11-353M9.1_ENST00000449462.1_RNA|FRMD4A_ENST00000342409.2_Silent_p.N211N|FRMD4A_ENST00000378503.1_Silent_p.N195N|FRMD4A_ENST00000358621.4_Silent_p.N180N	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	195	FERM.					cytoplasm|cytoskeleton	binding	p.N195N(2)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TTGTCTGACCGTTCAGTTTCT	0.443000													45	101					0	0	0.048971	0	0
FAM127A	8933	broad.mit.edu	37	X	134166623	134166623	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:134166623C>A	ENST00000257013.7	+	1	291	c.210C>A	c.(208-210)acC>acA	p.T70T	FAM127A_ENST00000464369.1_Intron	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	70										endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TCCTCATCACCCGCCTCACAG	0.612000													4	109					0.0215528	0.0224828	0.021553	1	0
LHX9	56956	broad.mit.edu	37	1	197890725	197890725	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:197890725G>T	ENST00000367390.3	+	4	669	c.642G>T	c.(640-642)caG>caT	p.Q214H	LHX9_ENST00000367391.1_Missense_Mutation_p.Q214H|LHX9_ENST00000561173.1_Missense_Mutation_p.Q229H|LHX9_ENST00000367387.4_Missense_Mutation_p.Q223H|LHX9_ENST00000337020.2_Missense_Mutation_p.Q223H	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	223					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.Q223H(2)|p.Q214H(2)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCACCGTGCAGAAAGGGCGGC	0.652000													17	34					1.5739e-10	2.12916e-10	0.028581	1	0
NRAP	4892	broad.mit.edu	37	10	115410292	115410292	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:115410292C>T	ENST00000369358.4	-	8	932	c.688G>A	c.(688-690)Gag>Aag	p.E230K	NRAP_ENST00000369360.3_Missense_Mutation_p.E230K|NRAP_ENST00000359988.3_Missense_Mutation_p.E230K|NRAP_ENST00000360478.3_Missense_Mutation_p.E230K			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	230						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.E230K(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCATAGTCCTCTGTGTATCTC	0.448000													23	63					0	0	0.062417	0	0
ASS1	445	broad.mit.edu	37	9	133364724	133364724	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:133364724C>G	ENST00000372394.1	+	13	1324	c.843C>G	c.(841-843)atC>atG	p.I281M	ASS1_ENST00000352480.5_Missense_Mutation_p.I281M|ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000372393.3_Missense_Mutation_p.I281M			P00966	ASSY_HUMAN	argininosuccinate synthase 1	281					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	p.I281M(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GGCTAGGTATCTACGAGACCC	0.448000													43	87					0	0	0.048971	0	0
ASMTL	8623	broad.mit.edu	37	X	1561078	1561078	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:1561078C>A	ENST00000534940.1	-	2	277		c.e2+1		ASMTL_ENST00000381333.4_Splice_Site|ASMTL_ENST00000416733.2_Splice_Site|ASMTL_ENST00000381317.3_Splice_Site	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like						melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	p.?(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGCCCCTTGCCTGGTACAGC	0.527000													47	158					2.01807e-28	3.66682e-28	0.048971	1	0
FLNC	2318	broad.mit.edu	37	7	128486498	128486498	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:128486498C>A	ENST00000325888.8	+	23	4369	c.4108C>A	c.(4108-4110)Cga>Aga	p.R1370R	FLNC_ENST00000346177.6_Silent_p.R1370R	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1370					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.R1370R(2)		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						CAAGGCCAACCGATTCACTGT	0.642000													53	63					9.40535e-28	1.68147e-27	0.048971	1	0
CYFIP2	26999	broad.mit.edu	37	5	156731349	156731349	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:156731349C>G	ENST00000347377.6	+	8	1201	c.770C>G	c.(769-771)cCc>cGc	p.P257R	CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.P257R|CYFIP2_ENST00000541131.1_Missense_Mutation_p.P182R|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000521420.1_Missense_Mutation_p.P231R|CYFIP2_ENST00000318218.6_Missense_Mutation_p.P257R	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	257					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	p.P257R(6)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TACCTGACTCCCAGTGAGAAA	0.488000													16	153					0	0	0.033300	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938031	116938031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:116938031C>A	ENST00000229554.5	+	1	382	c.245C>A	c.(244-246)cCt>cAt	p.P82H	RSPH4A_ENST00000368580.4_Missense_Mutation_p.P82H|RSPH4A_ENST00000368581.4_Missense_Mutation_p.P82H	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	82					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.P82H(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACATCATCACCTGCTCCTGTC	0.652000									Kartagener syndrome				16	42					3.52763e-06	4.08617e-06	0.033300	1	0
GMFG	9535	broad.mit.edu	37	19	39819649	39819649	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:39819649C>A	ENST00000598034.1	-	6	377	c.348G>T	c.(346-348)gaG>gaT	p.E116D	GMFG_ENST00000594700.1_Intron|GMFG_ENST00000601387.1_Missense_Mutation_p.E75D|GMFG_ENST00000597595.1_Missense_Mutation_p.E116D|GMFG_ENST00000595636.1_3'UTR|GMFG_ENST00000600322.1_Missense_Mutation_p.E83D|GMFG_ENST00000602185.1_Missense_Mutation_p.E67D|GMFG_ENST00000253054.8_Missense_Mutation_p.E83D			O60234	GMFG_HUMAN	glia maturation factor, gamma	116	ADF-H.				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity	p.E116D(2)		breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCTTTGTGAGCTCTGCTGTCT	0.552000													18	73					9.7654e-05	0.000107944	0.043863	1	0
RASAL2	9462	broad.mit.edu	37	1	178252788	178252788	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:178252788A>T	ENST00000448150.3	+	2	1056	c.238A>T	c.(238-240)Aca>Tca	p.T80S	RASAL2_ENST00000465723.1_3'UTR|RASAL2_ENST00000367649.3_Missense_Mutation_p.T98S	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.T80L(2)|p.T98L(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTGCATCCTCACAGACAGCCA	0.463000													22	200					0	0	0.099896	0	0
SMG1	23049	broad.mit.edu	37	16	18844354	18844354	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:18844354C>A	ENST00000446231.2	-	51	9112	c.8700G>T	c.(8698-8700)ctG>ctT	p.L2900L	SMG1_ENST00000389467.3_Silent_p.L2900L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2900					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.L2896L(2)|p.L2900L(2)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTAGAGTCTGCAGGGGAACGC	0.468000													166	154					1.03592e-72	2.25872e-72	0.048971	1	0
IGKV4-1	28908	broad.mit.edu	37	2	89185128	89185128	+	RNA	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:89185128G>C	ENST00000390243.2	+	0	216																											CTGTTGCTCTGGATCTCTGGT	0.398000													31	194					0	0	0.059317	0	0
TAF1L	138474	broad.mit.edu	37	9	32632739	32632739	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:32632739G>A	ENST00000242310.4	-	1	2928	c.2839C>T	c.(2839-2841)Cac>Tac	p.H947Y		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	947					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.H947Y(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAGCAGCGTGAACTTCATCA	0.493000													33	168					0	0	0.050027	0	0
STXBP5L	9515	broad.mit.edu	37	3	120952514	120952514	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:120952514T>C	ENST00000273666.6	+	12	1434	c.1163T>C	c.(1162-1164)gTa>gCa	p.V388A	STXBP5L_ENST00000492541.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000471454.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000497029.1_Missense_Mutation_p.V388A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	388					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.V388A(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GATCTCATTGTAGTTGATCTG	0.284000													11	42					0	0	0.024245	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460697	1460697	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:1460697C>A	ENST00000359801.3	-	2	135	c.99G>T	c.(97-99)caG>caT	p.Q33H	SIRPB2_ENST00000537284.1_5'UTR|SIRPB2_ENST00000444444.1_Missense_Mutation_p.Q33H|SIRPB2_ENST00000381630.1_Missense_Mutation_p.Q33H	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	33	Ig-like V-type 1.					integral to membrane		p.Q33H(2)|p.Q132H(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCTGCTGCTCTGCCCAGAGG	0.527000													27	44					2.80507e-11	3.85091e-11	0.050027	1	0
PHF14	9678	broad.mit.edu	37	7	11068363	11068363	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:11068363G>T	ENST00000403050.3	+	7	1825	c.1373G>T	c.(1372-1374)tGt>tTt	p.C458F	PHF14_ENST00000445996.2_Missense_Mutation_p.C173F	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	458							zinc ion binding	p.C458F(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGCATTAGCTGTGATGCAGGG	0.448000													71	153					1.1794e-34	2.29283e-34	0.048971	1	0
OR10K2	391107	broad.mit.edu	37	1	158390454	158390454	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158390454C>A	ENST00000314902.2	-	1	202	c.203G>T	c.(202-204)tGc>tTc	p.C68F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C68F(2)		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)					AATCTCAGAGCAAGAGAGGAT	0.488000													23	205					3.08376e-08	3.81865e-08	0.083992	1	0
PADI1	29943	broad.mit.edu	37	1	17548865	17548865	+	Missense_Mutation	SNP	G	G	A	rs141255010	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:17548865G>A	ENST00000375471.4	+	2	265	c.173G>A	c.(172-174)cGt>cAt	p.R58H		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	58					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AACCGCACACGTGTGAAAGAG	0.552000													6	216					0	0	0.021553	0	0
OR10R2	343406	broad.mit.edu	37	1	158450337	158450337	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158450337G>T	ENST00000368152.1	+	1	670	c.670G>T	c.(670-672)Gtt>Ttt	p.V224F	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V224F(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CATTTGTGGAGTTCTTGTACT	0.423000													85	141					3.3814e-41	6.81181e-41	0.048971	1	0
MCTP1	79772	broad.mit.edu	37	5	94224666	94224666	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:94224666C>A	ENST00000515393.1	-	12	1850	c.1851G>T	c.(1849-1851)agG>agT	p.R617S	MCTP1_ENST00000429576.2_Missense_Mutation_p.R350S|MCTP1_ENST00000312216.8_Missense_Mutation_p.R396S|MCTP1_ENST00000505078.1_Missense_Mutation_p.R133S|MCTP1_ENST00000505208.1_Missense_Mutation_p.R396S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	617	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.R617S(2)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGTGAAATATCCTCAATGGGC	0.423000													39	53					2.40579e-17	3.71561e-17	0.086207	1	0
SEC16A	9919	broad.mit.edu	37	9	139371251	139371251	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:139371251C>A	ENST00000313050.7	-	1	890	c.817G>T	c.(817-819)Gca>Tca	p.A273S	SEC16A_ENST00000371706.3_Missense_Mutation_p.A95S|SEC16A_ENST00000290037.6_Missense_Mutation_p.A95S|SEC16A_ENST00000431893.2_Missense_Mutation_p.A95S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	95					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.A273S(4)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCAAGGCTGCTGGGGGAGCC	0.587000													9	26					2.17888e-05	2.47236e-05	0.058154	1	0
IRGC	56269	broad.mit.edu	37	19	44223909	44223909	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:44223909G>T	ENST00000244314.5	+	2	1398	c.1199G>T	c.(1198-1200)cGc>cTc	p.R400L		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	400						membrane	GTP binding|hydrolase activity, acting on acid anhydrides	p.R400L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CAGCGTGTCCGCATCAAGGCC	0.652000													6	23					0.00198382	0.00209696	0.029380	1	0
ZNF414	84330	broad.mit.edu	37	19	8578116	8578116	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:8578116G>A	ENST00000393927.4	-	2	226	c.113C>T	c.(112-114)tCc>tTc	p.S38F	ZNF414_ENST00000255616.8_Missense_Mutation_p.S38F	NM_001146175.1	NP_001139647.1	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						CATGGAGGAGGAAGGGGCTGC	0.682000													3	19					0	0	0.004672	0	0
LAMA2	3908	broad.mit.edu	37	6	129635943	129635943	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:129635943G>T	ENST00000421865.2	+	24	3604	c.3555_splice	c.e24+1	p.W1185_splice		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1185	Laminin IV type A 2.				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	p.W1185F(2)		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)		TCCGGACGTGGGTGAGTAGGG	0.483000													25	82					9.39395e-14	1.38176e-13	0.030593	1	0
GPR128	84873	broad.mit.edu	37	3	100373932	100373932	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:100373932G>A	ENST00000273352.3	+	12	1901	c.1633G>A	c.(1633-1635)Gca>Aca	p.A545T	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.A250T	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	545					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A545T(2)		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						TACCTGGAACGCACTCAGCGC	0.458000													38	199					0	0	0.039052	0	0
NBAS	51594	broad.mit.edu	37	2	15492159	15492159	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:15492159T>A	ENST00000281513.5	-	35	4161	c.4136A>T	c.(4135-4137)gAa>gTa	p.E1379V	NBAS_ENST00000441750.1_Missense_Mutation_p.E1259V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1379								p.E1379V(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTGATATTTTCCCCTCCTTC	0.368000													7	62					0	0	0.029380	0	0
BRE	9577	broad.mit.edu	37	2	28521252	28521252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:28521252C>T	ENST00000344773.2	+	11	1120	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	BRE_ENST00000361704.2_Nonsense_Mutation_p.Q328*|BRE_ENST00000342045.2_Nonsense_Mutation_p.Q328*|BRE_ENST00000379624.1_Nonsense_Mutation_p.Q328*|BRE_ENST00000379632.2_Nonsense_Mutation_p.Q328*	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	328	UEV-like 2.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.Q328*(9)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TCTCACATTTCAGTCCGTTTA	0.428000													92	227					0	0	0.048971	0	0
IFNA7	3444	broad.mit.edu	37	9	21202067	21202067	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:21202067C>A	ENST00000239347.3	-	1	137	c.98G>T	c.(97-99)cGt>cTt	p.R33L		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	33					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.R33L(2)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCTCCTATTACGCAGGCTGTG	0.507000													24	150					3.83957e-06	4.43825e-06	0.076483	1	0
LRRC66	339977	broad.mit.edu	37	4	52861722	52861722	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:52861722C>T	ENST00000343457.3	-	4	1472	c.1466G>A	c.(1465-1467)gGa>gAa	p.G489E		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	489						integral to membrane		p.G489E(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCCGCACTGTCCTGGGCTCTG	0.547000													52	115					0	0	0.048971	0	0
SERPINA3	12	broad.mit.edu	37	14	95088804	95088804	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:95088804G>T	ENST00000553947.1	+	7	2007	c.1119G>T	c.(1117-1119)ggG>ggT	p.G373G	SERPINA3_ENST00000393078.3_Silent_p.G348G|SERPINA3_ENST00000482740.1_Silent_p.G130G|SERPINA3_ENST00000467132.1_Silent_p.G348G|SERPINA3_ENST00000393080.4_Silent_p.G348G|SERPINA3_ENST00000556388.1_3'UTR			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	348	RCL.				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.G348G(2)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GGATCACAGGGGCCAGGAACC	0.502000													23	48					1.28384e-07	1.55855e-07	0.062417	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3677979	3677979	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:3677979C>A	ENST00000344754.4	-	9	2132	c.2133G>T	c.(2131-2133)ctG>ctT	p.L711L	SIGLEC1_ENST00000202578.4_Silent_p.L711L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	711	Ig-like C2-type 7.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.L711L(1)		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						GTGCAATGGCCAGGACAGTGG	0.637000													13	40					0.000219431	0.000237824	0.020292	1	0
FUBP1	8880	broad.mit.edu	37	1	78422351	78422351	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:78422351C>A	ENST00000370767.1	-	17	1698	c.1611G>T	c.(1609-1611)tgG>tgT	p.W537C	FUBP1_ENST00000370768.2_Missense_Mutation_p.W537C|FUBP1_ENST00000436586.2_Missense_Mutation_p.W558C			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	537	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.W537C(2)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATAAGCAGCCCAAGCTGCTG	0.453000			"""F, N"""		oligodendroglioma								19	110					6.94344e-10	9.01999e-10	0.038395	1	0
ZNF99	7652	broad.mit.edu	37	19	22941575	22941575	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:22941575C>G	ENST00000397104.3	-	5	862	c.863G>C	c.(862-864)aGc>aCc	p.S288T	ZNF99_ENST00000596209.1_Missense_Mutation_p.S379T					zinc finger protein 99									p.S288T(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGACAAATTGCTAAAAGCTTT	0.373000													14	105					0	0	0.105934	0	0
PBX4	80714	broad.mit.edu	37	19	19681554	19681554	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:19681554G>A	ENST00000251203.8	-	3	568	c.282C>T	c.(280-282)tgC>tgT	p.C94C		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	94							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.C94C(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						TCTCGGGCCTGCACACGCCCT	0.572000													13	68					0	0	0.020292	0	0
KIF17	57576	broad.mit.edu	37	1	21014281	21014281	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:21014281G>A	ENST00000247986.2	-	8	1848	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	KIF17_ENST00000400463.3_Missense_Mutation_p.S513F|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.S413F			Q9P2E2	KIF17_HUMAN	kinesin family member 17	513					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.S513F(2)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTGAGTCTTGGAGACATCGTC	0.542000													25	190					0	0	0.091800	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482152	37482152	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:37482152C>A	ENST00000374660.1	+	33	2868	c.2769C>A	c.(2767-2769)gcC>gcA	p.A923A	ANKRD30A_ENST00000361713.1_Silent_p.A804A|ANKRD30A_ENST00000602533.1_Silent_p.A804A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	974						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A804A(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAACTAAAGCCTTAGAATTGA	0.279000													16	77					1.02788e-11	1.43234e-11	0.033300	1	0
DHX37	57647	broad.mit.edu	37	12	125437014	125437014	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:125437014A>C	ENST00000308736.2	-	21	2896	c.2798T>G	c.(2797-2799)cTg>cGg	p.L933R	DHX37_ENST00000544745.1_Missense_Mutation_p.L720R	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	933							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GTGGTCCCCCAGGCCTGCCGT	0.672000													6	69					0	0	0.038147	0	0
ATPIF1	93974	broad.mit.edu	37	1	28564414	28564414	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:28564414G>T	ENST00000335514.5	+	3	297	c.246G>T	c.(244-246)aaG>aaT	p.K82N	ATPIF1_ENST00000497986.1_3'UTR|ATPIF1_ENST00000468425.2_Intron|ATPIF1_ENST00000465645.1_3'UTR	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	82					angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity	p.K82N(2)		lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TTCATCATAAGAAGGAGATTG	0.418000													26	49					1.64293e-13	2.39756e-13	0.083992	1	0
IQGAP1	8826	broad.mit.edu	37	15	90996394	90996394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:90996394G>T	ENST00000268182.5	+	13	1481	c.1357G>T	c.(1357-1359)Gca>Tca	p.A453S	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	453					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	p.A453S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCTCTCTGTCGCAGTGGAGAT	0.478000													12	152					0.000219431	0.000237824	0.020292	1	0
GRM4	2914	broad.mit.edu	37	6	34008522	34008522	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:34008522C>T	ENST00000374181.3	-	6	1341	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	GRM4_ENST00000535756.1_Missense_Mutation_p.R258H|GRM4_ENST00000538487.1_Missense_Mutation_p.R391H|GRM4_ENST00000544773.1_Missense_Mutation_p.R222H|GRM4_ENST00000455714.2_Missense_Mutation_p.R251H|GRM4_ENST00000374177.3_Missense_Mutation_p.R275H|GRM4_ENST00000545715.1_Missense_Mutation_p.R83H	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	391					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AATTCGCTCACGGTCTGCAAT	0.597000													4	103					0	0	0.009096	0	0
OR6K2	81448	broad.mit.edu	37	1	158669653	158669653	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158669653A>G	ENST00000359610.2	-	1	833	c.790T>C	c.(790-792)Tct>Cct	p.S264P		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S264P(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TAGGTGGCAGAGAAGCGTAGG	0.478000													33	43					0	0	0.045705	0	0
SETBP1	26040	broad.mit.edu	37	18	42531706	42531706	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:42531706G>T	ENST00000282030.5	+	4	2697	c.2401G>T	c.(2401-2403)Gag>Tag	p.E801*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	801						nucleus	DNA binding	p.E801*(2)|p.E747*(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAATTTTTCAGAGTTGAAAAC	0.498000									Schinzel-Giedion syndrome				52	57					2.01872e-29	3.71658e-29	0.048971	1	0
JPH4	84502	broad.mit.edu	37	14	24040419	24040419	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:24040419C>T	ENST00000397118.3	-	6	2423	c.1521G>A	c.(1519-1521)gaG>gaA	p.E507E	JPH4_ENST00000544177.1_Silent_p.E172E|JPH4_ENST00000356300.4_Silent_p.E507E	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	507					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CAGCTAGTTCCTCTGCCTGTG	0.667000													7	506					0	0	0.038147	0	0
OR4A5	81318	broad.mit.edu	37	11	51412283	51412283	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:51412283A>T	ENST00000319760.6	-	1	165	c.113T>A	c.(112-114)gTg>gAg	p.V38E		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V38E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAGGTTCCCCACCACTGTCAC	0.428000													39	54					0	0	0.074837	0	0
MUC5AC	4586	broad.mit.edu	37	11	1161857	1161857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:1161857C>T	ENST00000356191.2	+	18	1528	c.1528C>T	c.(1528-1530)Cag>Tag	p.Q510*						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GTTCCTGAACCAGATCTACAC	0.672000													5	49					0	0	0.029380	0	0
GOT1L1	137362	broad.mit.edu	37	8	37794885	37794885	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:37794885G>T	ENST00000307599.4	-	4	528	c.429C>A	c.(427-429)ttC>ttA	p.F143L		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	143					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	p.F143L(4)		central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CCATGTCCTGGAAGACGAGTC	0.542000													11	15					1.58986e-06	1.86098e-06	0.069234	1	0
COL7A1	1294	broad.mit.edu	37	3	48618353	48618353	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:48618353G>T	ENST00000328333.8	-	53	5049	c.4942C>A	c.(4942-4944)Ccg>Acg	p.P1648T	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1648T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1648	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.P1648T(2)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCAAACCCGGGTCACCCTGG	0.557000													16	40					5.3912e-06	6.20602e-06	0.038395	1	0
OR4C13	283092	broad.mit.edu	37	11	49974443	49974443	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:49974443C>A	ENST00000555099.1	+	1	501	c.469C>A	c.(469-471)Cag>Aag	p.Q157K		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q157K(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGCAACCATACAGATCCTCTT	0.443000													100	122					1.19196e-48	2.48214e-48	0.048971	1	0
TECTA	7007	broad.mit.edu	37	11	120983847	120983847	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:120983847G>C	ENST00000392793.1	+	5	824	c.553G>C	c.(553-555)Gaa>Caa	p.E185Q	TECTA_ENST00000264037.2_Missense_Mutation_p.E185Q			O75443	TECTA_HUMAN	tectorin alpha	185	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.E185Q(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAATTATTACGAAATCAACTG	0.572000											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	65					0	0	0.048971	0	0
TPO	7173	broad.mit.edu	37	2	1491645	1491645	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:1491645G>T	ENST00000345913.4	+	10	1741	c.1650G>T	c.(1648-1650)caG>caT	p.Q550H	TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.Q377H|TPO_ENST00000346956.3_Missense_Mutation_p.Q550H|TPO_ENST00000337415.3_Missense_Mutation_p.Q550H|TPO_ENST00000329066.4_Missense_Mutation_p.Q550H|TPO_ENST00000382198.1_Missense_Mutation_p.Q377H|TPO_ENST00000382201.3_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	550					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.Q550H(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCAAACTGCAGGTGCAGGATC	0.537000													10	94					5.16669e-11	7.07556e-11	0.080935	1	0
TKTL2	84076	broad.mit.edu	37	4	164394546	164394546	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:164394546G>T	ENST00000280605.3	-	1	501	c.341C>A	c.(340-342)cCc>cAc	p.P114H		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	114						cytoplasm	metal ion binding|transketolase activity	p.P114H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CGGCAATCGGGGGGTAGGGTG	0.532000													33	81					2.49534e-26	4.37669e-26	0.045705	1	0
PPIG	9360	broad.mit.edu	37	2	170493474	170493474	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:170493474G>C	ENST00000260970.3	+	14	1926	c.1706G>C	c.(1705-1707)aGg>aCg	p.R569T	PPIG_ENST00000409714.3_Missense_Mutation_p.R554T|PPIG_ENST00000448752.2_Missense_Mutation_p.R569T	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	569	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R569T(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AGCAGAAGTAGGGACAGAAGC	0.433000													8	55					0	0	0.047766	0	0
A4GALT	53947	broad.mit.edu	37	22	43089605	43089605	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:43089605G>A	ENST00000401850.1	-	2	842	c.353C>T	c.(352-354)cCg>cTg	p.P118L	A4GALT_ENST00000249005.2_Missense_Mutation_p.P118L|A4GALT_ENST00000381278.3_Missense_Mutation_p.P118L			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	118					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GTTGCCACCCGGAAGCCCTTT	0.632000													5	223					0	0	0.038147	0	0
SLC28A3	64078	broad.mit.edu	37	9	86905119	86905119	+	Missense_Mutation	SNP	C	C	A	rs11568388		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:86905119C>A	ENST00000376238.4	-	11	1148	c.1099G>T	c.(1099-1101)Ggg>Tgg	p.G367W	SLC28A3_ENST00000537648.1_Missense_Mutation_p.G298W	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	367			G -> R (reduced transport of inosine and thymidine).		nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	p.G367W(2)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GTAGAGAACCCGGCGGTCATG	0.458000													15	70					2.31682e-05	2.6182e-05	0.024245	1	0
WIPI1	55062	broad.mit.edu	37	17	66417950	66417950	+	Silent	SNP	G	G	A	rs146678987		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:66417950G>A	ENST00000262139.5	-	13	1304	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C	WIPI1_ENST00000546360.1_Silent_p.C353C|WIPI1_ENST00000589459.1_5'UTR|ARSG_ENST00000448504.2_3'UTR|RP11-120M18.2_ENST00000592030.1_RNA	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	435					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GATTTCCACGGCACAAGATTA	0.468000													5	185					0	0	0.014758	0	0
SPON1	10418	broad.mit.edu	37	11	14284462	14284462	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:14284462C>A	ENST00000310358.7	+	0	2736				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	p.A733D(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TGGAGGGAGGCCCGAGAGAGC	0.582000													21	34					1.2644e-06	1.48943e-06	0.055883	1	0
FAT4	79633	broad.mit.edu	37	4	126242381	126242381	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:126242381C>A	ENST00000394329.3	+	1	4828	c.4815C>A	c.(4813-4815)gaC>gaA	p.D1605E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1605	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D1605E(4)		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						CAGCAACAGACCTTGGGCCTG	0.433000													59	170					3.76997e-23	6.42976e-23	0.048971	1	0
HAVCR2	84868	broad.mit.edu	37	5	156533775	156533775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:156533775C>A	ENST00000307851.4	-	2	987	c.257G>T	c.(256-258)gGg>gTg	p.G86V	HAVCR2_ENST00000517358.1_5'UTR|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Missense_Mutation_p.G86V	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	86	Ig-like V-type.					integral to membrane		p.G86V(2)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGGAAATCCCCATTTAGCCA	0.488000													55	212					1.07234e-20	1.75877e-20	0.048971	1	0
CARD16	114769	broad.mit.edu	37	11	104912157	104912157	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:104912157C>A	ENST00000375706.2	-	3	581	c.564G>T	c.(562-564)gaG>gaT	p.E188D	CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16									p.E188D(2)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						CAGTTTGCAACTCTTTACCTA	0.383000													33	86					1.36239e-07	1.6503e-07	0.059317	1	0
XKR6	286046	broad.mit.edu	37	8	10755798	10755798	+	Silent	SNP	C	C	A	rs61745501	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:10755798C>A	ENST00000416569.2	-	3	1616	c.1590G>T	c.(1588-1590)gcG>gcT	p.A530A	XKR6_ENST00000304437.2_Silent_p.A251A	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	530						integral to membrane		p.A530A(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGATCTCAGGCGCCATGGGCT	0.612000													23	46					7.88262e-20	1.27036e-19	0.083992	1	0
AP1G1	164	broad.mit.edu	37	16	71768563	71768563	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:71768563T>C	ENST00000299980.4	-	22	2757	c.2316A>G	c.(2314-2316)gcA>gcG	p.A772A	AP1G1_ENST00000433195.2_Silent_p.A795A|AP1G1_ENST00000423132.2_Silent_p.A775A|AP1G1_ENST00000393512.3_Silent_p.A775A|AP1G1_ENST00000564155.1_Silent_p.A197A|AP1G1_ENST00000569748.1_Silent_p.A772A	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	772	GAE.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CCGTGTTAAATGCTGGGACAA	0.463000													8	423					0	0	0.047766	0	0
CFAP54	144535	broad.mit.edu	37	12	97052115	97052115	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:97052115T>C	ENST00000524981.3	+	5	804	c.804T>C	c.(802-804)taT>taC	p.Y268Y				Q6ZTY8	CL063_HUMAN		242								p.Y242Y(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGGCTGAATATGGAGAGAAGG	0.378000													13	125					0	0	0.020292	0	0
SLC45A2	51151	broad.mit.edu	37	5	33954552	33954552	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:33954552G>A	ENST00000382102.3	-	4	1003	c.946C>T	c.(946-948)Cac>Tac	p.H316Y	SLC45A2_ENST00000296589.4_Missense_Mutation_p.H316Y|SLC45A2_ENST00000345083.5_Missense_Mutation_p.H208Y|SLC45A2_ENST00000509381.1_Missense_Mutation_p.S207L|SLC45A2_ENST00000342059.3_Missense_Mutation_p.H257Y	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	316					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.H316Y(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TAGCGGTAGTGAGGAGGCATG	0.478000													33	61					0	0	0.054565	0	0
GPR12	2835	broad.mit.edu	37	13	27333071	27333071	+	Silent	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:27333071A>G	ENST00000405846.3	-	2	1115	c.894T>C	c.(892-894)ccT>ccC	p.P298P	GPR12_ENST00000381436.2_Silent_p.P298P	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	298						integral to plasma membrane		p.P298P(2)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CATATATGACAGGGTTGATGA	0.542000													25	85					0	0	0.083992	0	0
RPL17-C18orf32	100526842	broad.mit.edu	37	18	47015750	47015750	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:47015750C>A	ENST00000584895.1	-	5	500	c.486G>T	c.(484-486)gaG>gaT	p.E162D	RPL17_ENST00000581373.1_Missense_Mutation_p.E124D|RPL17_ENST00000418495.1_Missense_Mutation_p.E162D|RPL17_ENST00000581091.1_5'UTR|RPL17_ENST00000579248.1_Missense_Mutation_p.E162D|RPL17_ENST00000579408.1_Missense_Mutation_p.E162D|MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000580261.1_Missense_Mutation_p.E162D|RPL17_ENST00000580210.1_Missense_Mutation_p.E152D|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.E124D	NM_001199355.1|NM_001199356.1	NP_001186284.1|NP_001186285.1												p.E162D(8)									GGGCAACCTCCTCTTCTGGTT	0.428000													30	77					2.08457e-15	3.16672e-15	0.045705	1	0
TSLP	85480	broad.mit.edu	37	5	110407688	110407688	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:110407688T>A	ENST00000420978.2	+	2	1522	c.100T>A	c.(100-102)Tgt>Agt	p.C34S	TSLP_ENST00000344895.3_Missense_Mutation_p.C34S			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	34						extracellular space	cytokine activity	p.C34S(2)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTTCACTAACTGTGACTTTGA	0.348000													49	66					0	0	0.048971	0	0
LTF	4057	broad.mit.edu	37	3	46496817	46496817	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:46496817C>A	ENST00000231751.4	-	5	910	c.615G>T	c.(613-615)caG>caT	p.Q205H	LTF_ENST00000426532.2_Missense_Mutation_p.Q161H|LTF_ENST00000417439.1_Missense_Mutation_p.Q205H	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	205	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.Q205_E206>H*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AGTACGGTTCCTGGGAGGAGA	0.582000													16	88					6.31663e-08	7.73578e-08	0.024245	1	0
HAUS7	55559	broad.mit.edu	37	X	152721086	152721086	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:152721086C>G	ENST00000370219.3	-	8	1431	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.E292Q|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000421080.2_Silent_p.A113A|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000370211.4_Missense_Mutation_p.E282Q	NM_017518.6	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	292					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	p.E292Q(2)|p.E292*(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						TGGCAGCACTCGCCCAGCTCG	0.602000													48	43					0	0	0.048971	0	0
ARHGAP6	395	broad.mit.edu	37	X	11196361	11196361	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:11196361C>T	ENST00000337414.4	-	8	2360	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E	ARHGAP6_ENST00000413512.3_Silent_p.E305E|ARHGAP6_ENST00000303025.6_Silent_p.E293E|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380718.1_Silent_p.E496E|ARHGAP6_ENST00000380732.3_Silent_p.E528E|ARHGAP6_ENST00000534860.1_Silent_p.E321E|ARHGAP6_ENST00000380736.1_Silent_p.E293E	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	496	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.E496E(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTTCCTCCGGCTCCAACACTA	0.522000													5	8					0	0	0.021553	0	0
HAND1	9421	broad.mit.edu	37	5	153857373	153857373	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:153857373C>A	ENST00000231121.2	-	1	451	c.196G>T	c.(196-198)Gct>Tct	p.A66S		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	66	Poly-Ala.				angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity	p.A66S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCGGCTGCAgcggccgcgggc	0.746000													14	5					4.35082e-09	5.51037e-09	0.055883	1	0
LRP1B	53353	broad.mit.edu	37	2	141267498	141267498	+	Splice_Site	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:141267498G>A	ENST00000389484.3	-	52	9368	c.8398_splice	c.e52+1	p.C2799_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2799	LDL-receptor class A 17.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C2799C(2)		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)		TGTTCATACCGCAGCCTGCTG	0.507000										TSP Lung(27;0.18)			27	121					0	0	0.030593	0	0
TTN	7273	broad.mit.edu	37	2	179396279	179396279	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:179396279G>A	ENST00000589042.1	-	358	105287	c.105063C>T	c.(105061-105063)ggC>ggT	p.G35021G	TTN_ENST00000591111.1_Silent_p.G33380G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.G26081G|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000460472.2_Silent_p.G25956G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342175.6_Silent_p.G26148G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.G32453G|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587944.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33380							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G26081G(1)|p.G26148G(1)|p.G32451G(1)|p.G25956G(1)|p.G32453G(1)		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)			CAGAAGCTTCGCCCTTGTAGT	0.507000													7	93					0	0	0.029380	0	0
NPHS1	4868	broad.mit.edu	37	19	36322556	36322556	+	Missense_Mutation	SNP	C	C	T	rs144203682	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:36322556C>T	ENST00000378910.5	-	24	3274	c.3275G>A	c.(3274-3276)cGt>cAt	p.R1092H	NPHS1_ENST00000353632.6_Intron	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1092					cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.R1092H(2)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCAGCAAGACGCCTGAGTCT	0.647000													7	22					0	0	0.029380	0	0
ARF5	381	broad.mit.edu	37	7	127231266	127231266	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:127231266G>T	ENST00000000233.5	+	6	610		c.e6-1		GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5						protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	p.?(2)		cervix(2)|kidney(1)|lung(10)|ovary(1)	14						TTTCCCCACAGTGGTATGTCC	0.552000													38	48					8.73648e-17	1.33447e-16	0.069456	1	0
TMEM81	388730	broad.mit.edu	37	1	205053311	205053311	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:205053311G>A	ENST00000367167.3	-	1	334	c.138C>T	c.(136-138)gcC>gcT	p.A46A		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	46						integral to membrane		p.A46A(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TACAGGTTGTGGCATTGATGA	0.532000													20	104					0	0	0.049695	0	0
GABRG2	2566	broad.mit.edu	37	5	161576140	161576140	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:161576140A>G	ENST00000356592.3	+	8	1409	c.949A>G	c.(949-951)Acc>Gcc	p.T317A	GABRG2_ENST00000414552.2_Missense_Mutation_p.T357A|GABRG2_ENST00000361925.4_Missense_Mutation_p.T317A|GABRG2_ENST00000393933.4_Missense_Mutation_p.T222A	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	317					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.T317A(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GACAATGACCACCCTCAGCAC	0.463000													14	211					0	0	0.020292	0	0
ZNF607	84775	broad.mit.edu	37	19	38198822	38198822	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:38198822C>A	ENST00000355202.4	-	4	823	c.228G>T	c.(226-228)gaG>gaT	p.E76D	ZNF607_ENST00000395835.3_Missense_Mutation_p.E75D|CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.E76D	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E76D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TACCTGTACACTCTCCTCTTG	0.443000													26	60					4.59853e-10	6.01596e-10	0.108266	1	0
GAS2L2	246176	broad.mit.edu	37	17	34073054	34073054	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:34073054G>C	ENST00000254466.6	-	6	1489	c.1462C>G	c.(1462-1464)Cca>Gca	p.P488A	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P472A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	488					cell cycle arrest	cytoplasm|cytoskeleton		p.P488A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAGACTCTGGCTCCCTGAAC	0.642000													102	98					0	0	0.048971	0	0
RNF175	285533	broad.mit.edu	37	4	154631639	154631639	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:154631639C>G	ENST00000347063.4	-	9	1241	c.869G>C	c.(868-870)tGg>tCg	p.W290S		NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN	ring finger protein 175	290						integral to membrane	zinc ion binding	p.W290S(1)|p.W291S(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				TGTGCGCTCCCAGCTAAATCT	0.378000													3	16					0	0	0.004672	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744233	140744233	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:140744233C>G	ENST00000518069.1	+	1	336	c.336C>G	c.(334-336)aaC>aaG	p.N112K	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.N112K(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTTGAGAACAAAATGAAAA	0.443000													26	39					0	0	0.083992	0	0
USP21	27005	broad.mit.edu	37	1	161130698	161130698	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:161130698C>T	ENST00000368002.3	+	3	645	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	USP21_ENST00000368001.1_Silent_p.L90L|USP21_ENST00000289865.8_Silent_p.L90L	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	90					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L90L(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGGGGTTCCCCTGCCTGGCTC	0.622000													13	89					0	0	0.093190	0	0
AZI2	64343	broad.mit.edu	37	3	28381959	28381959	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:28381959T>C	ENST00000479665.1	-	2	681	c.150A>G	c.(148-150)aaA>aaG	p.K50K	AZI2_ENST00000334100.6_Silent_p.K50K|AZI2_ENST00000457172.1_Silent_p.K50K|AZI2_ENST00000420543.2_Silent_p.K50K|AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	50						mitochondrion|plasma membrane		p.K50K(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTTAAGTCGTTTTTTGATGT	0.343000													29	59					0	0	0.108266	0	0
IFRD2	7866	broad.mit.edu	37	3	50326124	50326124	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:50326124C>A	ENST00000436390.1	-	13	1539	c.1042G>T	c.(1042-1044)Gag>Tag	p.E348*	IFRD2_ENST00000336089.4_Nonsense_Mutation_p.E514*|IFRD2_ENST00000429673.2_Nonsense_Mutation_p.E412*|IFRD2_ENST00000417626.2_Nonsense_Mutation_p.E348*			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	412							binding	p.E514*(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CGCACTATCTCTTCTTCGCAT	0.582000													22	28					1.22574e-08	1.53148e-08	0.069288	1	0
PIANP	196500	broad.mit.edu	37	12	6804697	6804697	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:6804697G>A	ENST00000534837.1	-	5	955	c.726C>T	c.(724-726)ttC>ttT	p.F242F	PIANP_ENST00000320591.5_Silent_p.F242F|PIANP_ENST00000540656.1_Silent_p.F242F	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein									p.F242F(2)									GTGAGTCCCCGAAGGCCCCCA	0.692000													15	84					0	0	0.028581	0	0
MYOC	4653	broad.mit.edu	37	1	171605172	171605172	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:171605172G>A	ENST00000037502.5	-	3	1467	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	470	Olfactomedin-like.		R -> C (in GLC1A).|R -> H.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.R470C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TACTTATAGCGGTTCTTGAAT	0.488000													26	167					0	0	0.108266	0	0
TPO	7173	broad.mit.edu	37	2	1459915	1459915	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:1459915C>A	ENST00000345913.4	+	7	771	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.S227Y|TPO_ENST00000346956.3_Missense_Mutation_p.S227Y|TPO_ENST00000337415.3_Missense_Mutation_p.S227Y|TPO_ENST00000329066.4_Missense_Mutation_p.S227Y|TPO_ENST00000382198.1_Missense_Mutation_p.S227Y|TPO_ENST00000382201.3_Missense_Mutation_p.S227Y	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	227					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.S227Y(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACCGCTATTCTGACCTCCTG	0.537000													10	71					3.07112e-06	3.5648e-06	0.080935	1	0
SH3BP1	23616	broad.mit.edu	37	22	38040934	38040934	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:38040934C>A	ENST00000599616.1	+	7	553	c.553C>A	c.(553-555)Ctg>Atg	p.L185M	SH3BP1_ENST00000442465.2_Missense_Mutation_p.L249M|SH3BP1_ENST00000336738.5_Missense_Mutation_p.L249M|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Missense_Mutation_p.L249M|SH3BP1_ENST00000495174.1_3'UTR			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	249	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GGACACAGCCCTGGCTGAGCT	0.627000													6	52					0.000274275	0.000294965	0.047766	1	0
EPHA8	2046	broad.mit.edu	37	1	22903323	22903323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:22903323G>T	ENST00000166244.3	+	3	845	c.773G>T	c.(772-774)gGc>gTc	p.G258V	EPHA8_ENST00000374644.4_Missense_Mutation_p.G258V|EPHA8_ENST00000538803.1_Missense_Mutation_p.G258V	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	258	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G258V(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTGCCCATCGGCAAATGCGTG	0.682000													9	47					3.86212e-05	4.31192e-05	0.069234	1	0
OR5M1	390168	broad.mit.edu	37	11	56380768	56380768	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:56380768T>A	ENST00000526538.1	-	1	210	c.211A>T	c.(211-213)Att>Ttt	p.I71F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I71F(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GAATAGCAAATGTCTACAAAG	0.468000													67	90					0	0	0.048971	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886197	88886197	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:88886197C>A	ENST00000319675.3	-	1	99	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	1								p.M1I(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTTTGCTCTCCATTTCGTTCG	0.522000													23	38					3.28513e-13	4.75659e-13	0.091800	1	0
PRDM9	56979	broad.mit.edu	37	5	23527675	23527675	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:23527675C>A	ENST00000296682.3	+	11	2660	c.2478C>A	c.(2476-2478)caC>caA	p.H826Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	826					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.H826Q(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAGGACACACACAGGGGAGA	0.582000										HNSCC(3;0.000094)			71	286					5.88917e-42	1.19503e-41	0.048971	1	0
HSPA1L	3305	broad.mit.edu	37	6	31779674	31779674	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:31779674C>G	ENST00000375654.4	-	2	265	c.76G>C	c.(76-78)Ggc>Cgc	p.G26R	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G26R	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	26					response to unfolded protein		ATP binding	p.G26R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TCCACCTTGCCGTGCTGGAAC	0.607000													35	134					0	0	0.059317	0	0
PCDH17	27253	broad.mit.edu	37	13	58207122	58207122	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:58207122G>T	ENST00000377918.3	+	1	468	c.442G>T	c.(442-444)Ggc>Tgc	p.G148C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	148	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.G148C(2)		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)		CGCTGCTCCGGGCACCCGCTT	0.617000													12	50					1.61879e-10	2.17403e-10	0.093190	1	0
LAX1	54900	broad.mit.edu	37	1	203743435	203743435	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:203743435G>T	ENST00000442561.2	+	5	1213	c.823G>T	c.(823-825)Gat>Tat	p.D275Y	LAX1_ENST00000367217.5_Missense_Mutation_p.D259Y|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	275					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.D275Y(2)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GACAGGGTTGGATCTCAGTGC	0.493000													20	100					6.33239e-15	9.49005e-15	0.055883	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28296390	28296390	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr21:28296390G>T	ENST00000284987.5	-	8	2896	c.2775C>A	c.(2773-2775)tgC>tgA	p.C925*	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	925	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.C925*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCTTCAACAAGCATTGCTTAA	0.478000													24	60					6.44725e-10	8.39502e-10	0.069288	1	0
LZTS1	11178	broad.mit.edu	37	8	20112440	20112440	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:20112440G>T	ENST00000381569.1	-	2	610	c.253C>A	c.(253-255)Ctg>Atg	p.L85M	LZTS1_ENST00000522290.1_Missense_Mutation_p.L85M|LZTS1_ENST00000265801.6_Missense_Mutation_p.L85M			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	85					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L85M(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCGCTGGACAGTGCCGTGTAA	0.577000													35	71					3.62531e-18	5.71012e-18	0.069456	1	0
FAM170A	340069	broad.mit.edu	37	5	118968566	118968566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:118968566G>T	ENST00000515256.1	+	2	366	c.194G>T	c.(193-195)cGc>cTc	p.R65L				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	65						intracellular	zinc ion binding	p.R65L(4)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TCTTCTTCACGCAAGCTCATC	0.557000													47	90					1.51926e-22	2.55972e-22	0.048971	1	0
FAM135B	51059	broad.mit.edu	37	8	139151256	139151256	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:139151256A>T	ENST00000395297.1	-	18	4044	c.3874T>A	c.(3874-3876)Ttc>Atc	p.F1292I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1292								p.F1292I(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGTAGAGGAAACATTTGCGC	0.448000										HNSCC(54;0.14)			25	100					0	0	0.034045	0	0
ACTA2	59	broad.mit.edu	37	10	90699439	90699439	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:90699439G>T	ENST00000458208.1	-	7	1107	c.633C>A	c.(631-633)gtC>gtA	p.V211V	STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Silent_p.V211V|ACTA2-AS1_ENST00000437930.3_RNA|ACTA2-AS1_ENST00000596007.1_RNA	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	211					response to virus	cytosol	ATP binding	p.V211V(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TGATGTCCCGGACAATCTCAC	0.498000													13	53					1.36491e-13	2.00235e-13	0.105934	1	0
PKNOX2	63876	broad.mit.edu	37	11	125300031	125300031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:125300031C>A	ENST00000298282.9	+	12	1457	c.1186C>A	c.(1186-1188)Ccc>Acc	p.P396T	PKNOX2_ENST00000542175.1_Missense_Mutation_p.P332T|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	396						nucleus	sequence-specific DNA binding transcription factor activity	p.P396T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AGGGACAAACCCCGATGGTAA	0.602000													13	77					0.0167234	0.0175107	0.105934	1	0
OXGR1	27199	broad.mit.edu	37	13	97639260	97639260	+	Missense_Mutation	SNP	C	C	A	rs144457939		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:97639260C>A	ENST00000298440.1	-	4	997	c.754G>T	c.(754-756)Gta>Tta	p.V252L	OXGR1_ENST00000543457.1_Missense_Mutation_p.V252L	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	252						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.V252L(2)|p.V252I(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AAAAAACATACGTAAAATGCA	0.438000													30	74					6.38683e-12	9.01289e-12	0.037714	1	0
CDHR4	389118	broad.mit.edu	37	3	49836271	49836271	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:49836271G>T	ENST00000343366.4	-	3	581	c.559C>A	c.(559-561)Cca>Aca	p.P187T	CDHR4_ENST00000412678.2_Silent_p.L161L|CDHR4_ENST00000487256.1_Silent_p.L161L			A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L161L(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GCGCTCCGTGGAGTTCTAGGC	0.612000													9	31					0.00621372	0.00653086	0.058154	1	0
MIB2	142678	broad.mit.edu	37	1	1562554	1562554	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:1562554G>T	ENST00000357210.4	+	11	1731	c.1515G>T	c.(1513-1515)cgG>cgT	p.R505R	MIB2_ENST00000518681.1_Silent_p.R497R|MIB2_ENST00000504599.1_Silent_p.R461R|MIB2_ENST00000520777.1_Silent_p.R558R|MIB2_ENST00000505820.2_Silent_p.R562R|MIB2_ENST00000378708.1_Silent_p.R411R|MIB2_ENST00000378710.3_Silent_p.R469R|MIB2_ENST00000378712.1_Silent_p.R382R|MIB2_ENST00000355826.5_Silent_p.R548R|MIB2_ENST00000360522.4_Silent_p.R470R	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	505					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.R505L(1)		central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACGCAGCCCGGGCTCTGGACC	0.682000													13	9					0.00136819	0.00144898	0.093190	1	0
ZNF326	284695	broad.mit.edu	37	1	90470716	90470716	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:90470716G>T	ENST00000340281.4	+	4	265	c.122G>T	c.(121-123)gGa>gTa	p.G41V	ZNF326_ENST00000361911.5_Missense_Mutation_p.G41V|ZNF326_ENST00000370447.2_Missense_Mutation_p.G41V|ZNF326_ENST00000455342.2_Intron	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	41	Gly-rich.|Mediates transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	p.G41V(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TATGGCCATGGATCCTATGGG	0.408000													57	97					7.89702e-26	1.38074e-25	0.048971	1	0
LRRC47	57470	broad.mit.edu	37	1	3703627	3703627	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:3703627T>A	ENST00000378251.1	-	2	890	c.863A>T	c.(862-864)aAg>aTg	p.K288M		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	288					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		ccgcctctgcttcctctccct	0.672000													6	50					0	0	0.029380	0	0
MINK1	50488	broad.mit.edu	37	17	4794819	4794819	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:4794819G>A	ENST00000355280.6	+	16	2005	c.1809G>A	c.(1807-1809)caG>caA	p.Q603Q	MINK1_ENST00000453408.3_Silent_p.Q583Q|MINK1_ENST00000347992.7_Silent_p.Q603Q	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	603					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.Q603Q(2)		central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGTCCCTGCAGGACCAGCCCA	0.682000													3	10					0	0	0.009096	0	0
OR13G1	441933	broad.mit.edu	37	1	247835561	247835561	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:247835561G>C	ENST00000359688.2	-	1	804	c.783C>G	c.(781-783)tcC>tcG	p.S261S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S261S(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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)			ATGTATAGCTGGAAGCAGGGC	0.463000													60	96					0	0	0.048971	0	0
CEP89	84902	broad.mit.edu	37	19	33457284	33457284	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:33457284G>A	ENST00000305768.4	-	2	216	c.128C>T	c.(127-129)cCa>cTa	p.P43L	CEP89_ENST00000590597.1_Missense_Mutation_p.P43L	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	43						centrosome|spindle pole		p.P43L(2)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTCTGGAGATGGGTTGGGGCT	0.572000													8	42					0	0	0.038147	0	0
ATRNL1	26033	broad.mit.edu	37	10	117486760	117486760	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:117486760A>T	ENST00000355044.3	+	27	3924	c.3798A>T	c.(3796-3798)caA>caT	p.Q1266H	ATRNL1_ENST00000423111.2_Missense_Mutation_p.Q317H|ATRNL1_ENST00000303745.7_Missense_Mutation_p.Q59H	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1266						integral to membrane	sugar binding	p.Q1266H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCCTCCAGCAACTGCTTCGAG	0.428000													17	46					0	0	0.033300	0	0
FLT1	2321	broad.mit.edu	37	13	28893606	28893606	+	Missense_Mutation	SNP	G	G	T	rs116034414	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:28893606G>T	ENST00000282397.4	-	24	3491	c.3240C>A	c.(3238-3240)agC>agA	p.S1080R	FLT1_ENST00000540678.1_Missense_Mutation_p.S298R|FLT1_ENST00000543394.1_Missense_Mutation_p.S103R	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1080	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.S1080R(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ACCACACGTCGCTCTTGGTGC	0.463000													5	31					5.9392e-07	7.07108e-07	0.021553	1	0
TIMMDC1	51300	broad.mit.edu	37	3	119222382	119222382	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:119222382T>G	ENST00000494664.1	+	3	566	c.364T>G	c.(364-366)Tct>Gct	p.S122A	TIMMDC1_ENST00000493694.1_Intron	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	122						integral to membrane|mitochondrial inner membrane	protein transporter activity	p.S122A(2)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ACTTTAGCAATCTGCACATCG	0.418000													5	28					0	0	0.029380	0	0
LCP2	3937	broad.mit.edu	37	5	169697832	169697832	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:169697832G>T	ENST00000046794.5	-	7	1029	c.414C>A	c.(412-414)ccC>ccA	p.P138P		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	138					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	p.P138P(6)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CATCTTCCACGGGTGCCTCTT	0.547000													26	107					8.58068e-18	1.3477e-17	0.034045	1	0
AKAP6	9472	broad.mit.edu	37	14	33242894	33242894	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:33242894G>A	ENST00000280979.4	+	12	3553	c.3383G>A	c.(3382-3384)cGt>cAt	p.R1128H	AKAP6_ENST00000557272.1_Missense_Mutation_p.R1128H	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1128					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.R1128H(2)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCCCTCTGTCGTGAAATCAAG	0.448000													32	323					0	0	0.045705	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705328	41705328	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:41705328C>A	ENST00000379485.1	-	1	1554	c.1320G>T	c.(1318-1320)ttG>ttT	p.L440F	KBTBD6_ENST00000499385.2_Missense_Mutation_p.L374F	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	440							protein binding	p.L440F(2)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTCGCCCCCCCAAAATGTAGA	0.473000													16	133					1.3612e-06	1.60006e-06	0.024245	1	0
LRRTM4	80059	broad.mit.edu	37	2	76975867	76975867	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:76975867G>T	ENST00000409911.1	-	3	1953	c.1730C>A	c.(1729-1731)gCc>gAc	p.A577D	LRRTM4_ENST00000409884.1_Missense_Mutation_p.A576D|LRRTM4_ENST00000409093.1_Missense_Mutation_p.A576D	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	576						integral to membrane		p.A576E(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGCCGACCTGGCGATGGTGGC	0.612000													39	139					4.44401e-20	7.2037e-20	0.039052	1	0
ZNF680	340252	broad.mit.edu	37	7	64004155	64004155	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:64004155C>G	ENST00000309683.6	-	3	334	c.183G>C	c.(181-183)ctG>ctC	p.L61L	ZNF680_ENST00000447137.2_Silent_p.L61L|ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L61L(2)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				AACAGGTTATCAGGTGAGGCT	0.398000													77	169					0	0	0.048971	0	0
DZIP1L	199221	broad.mit.edu	37	3	137816623	137816623	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:137816623C>T	ENST00000327532.2	-	3	930	c.568G>A	c.(568-570)Gca>Aca	p.A190T	DZIP1L_ENST00000469243.1_Missense_Mutation_p.A190T	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	190						intracellular	zinc ion binding	p.A190T(2)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						gccacgcctgcatgcctgcgc	0.577000											OREG0015831	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	16					0	0	0.021553	0	0
FAT3	120114	broad.mit.edu	37	11	92534270	92534270	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:92534270C>G	ENST00000298047.6	+	9	8108	c.8091C>G	c.(8089-8091)caC>caG	p.H2697Q	FAT3_ENST00000525166.1_Missense_Mutation_p.H2547Q|FAT3_ENST00000409404.2_Missense_Mutation_p.H2697Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2697	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.H2697Q(4)		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)				TCTATATCCACGTCTTGCCCC	0.458000										TCGA Ovarian(4;0.039)			16	35					0	0	0.038395	0	0
F13B	2165	broad.mit.edu	37	1	197024971	197024971	+	Missense_Mutation	SNP	C	C	A	rs144134146	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:197024971C>A	ENST00000367412.1	-	8	1271	c.1228G>T	c.(1228-1230)Ggg>Tgg	p.G410W		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	410	Sushi 7.				blood coagulation	extracellular region		p.G410W(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GCCAATATCCCGTCTGCAACA	0.363000													44	61					4.01344e-20	6.52477e-20	0.048971	1	0
PXDNL	137902	broad.mit.edu	37	8	52320977	52320977	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:52320977G>T	ENST00000356297.4	-	17	3307	c.3207C>A	c.(3205-3207)gcC>gcA	p.A1069A	PXDNL_ENST00000543296.1_Silent_p.A1069A	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1069					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.A1069A(2)|p.A268A(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACCTAAGGTGGCATTCAGTC	0.468000													23	39					2.98393e-07	3.5833e-07	0.076483	1	0
PPP6R1	22870	broad.mit.edu	37	19	55742243	55742243	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:55742243T>A	ENST00000412770.2	-	22	3035	c.2469A>T	c.(2467-2469)agA>agT	p.R823S	PPP6R1_ENST00000587283.1_Missense_Mutation_p.R823S	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	823	Pro-rich.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	p.R823S(1)		breast(1)	1						TAGAGGGGTCTCTGGTTGCAC	0.662000													17	26					0	0	0.028581	0	0
TGM5	9333	broad.mit.edu	37	15	43552761	43552761	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:43552761G>A	ENST00000220420.5	-	2	34	c.27C>T	c.(25-27)ctC>ctT	p.L9L	TGM5_ENST00000349114.4_Silent_p.L9L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	9					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.L9L(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGAGGTCTGTGAGGGCCACTT	0.562000													16	76					0	0	0.024245	0	0
USP33	23032	broad.mit.edu	37	1	78195558	78195558	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:78195558C>A	ENST00000370793.1	-	10	1143	c.797G>T	c.(796-798)gGg>gTg	p.G266V	USP33_ENST00000370792.3_Missense_Mutation_p.G266V|USP33_ENST00000370794.3_Missense_Mutation_p.G235V|USP33_ENST00000357428.1_Missense_Mutation_p.G266V	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	266					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.G266V(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CTGAGAATACCCCCGAAATGT	0.318000													10	132					4.36969e-10	5.75722e-10	0.105934	1	0
ZNF135	7694	broad.mit.edu	37	19	58579729	58579729	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:58579729G>A	ENST00000506786.1	+	5	2305	c.1751G>A	c.(1750-1752)aGg>aAg	p.R584K	ZNF135_ENST00000401053.4_Missense_Mutation_p.R650K|ZNF135_ENST00000313434.5_Missense_Mutation_p.R626K|ZNF135_ENST00000511556.1_Missense_Mutation_p.R638K|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.R626K			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	638					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R650K(2)|p.R626K(2)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAGCACCGGAGGATCCACACA	0.547000													20	87					0	0	0.049695	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22969320	22969320	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:22969320G>A	ENST00000356864.3	+	2	680	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	TNFRSF10C_ENST00000520607.1_3'UTR|TNFRSF10C_ENST00000540813.1_Intron	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	50					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity	p.G50R(1)		endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CAGCTTCAAGGGGGAGGAGTG	0.463000													6	59					0	0	0.038147	0	0
MYO7B	4648	broad.mit.edu	37	2	128381727	128381727	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:128381727G>T	ENST00000389524.4	+	29	3854	c.3801G>T	c.(3799-3801)caG>caT	p.Q1267H	MYO7B_ENST00000428314.1_Missense_Mutation_p.Q1267H|MYO7B_ENST00000409816.2_Missense_Mutation_p.Q1267H|MYO7B_ENST00000409090.1_Missense_Mutation_p.Q120H			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1267	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.Q1267H(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGTGTGAGCAGATGGCCCAGG	0.662000													3	9					0.004672	0.00492909	0.004672	1	0
LRRTM4	80059	broad.mit.edu	37	2	76975866	76975866	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:76975866G>T	ENST00000409911.1	-	3	1954	c.1731C>A	c.(1729-1731)gcC>gcA	p.A577A	LRRTM4_ENST00000409884.1_Silent_p.A576A|LRRTM4_ENST00000409093.1_Silent_p.A576A	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	576						integral to membrane		p.A576E(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTGCCGACCTGGCGATGGTGG	0.607000													38	139					5.44703e-19	8.70272e-19	0.111260	1	0
SEC31B	25956	broad.mit.edu	37	10	102249075	102249075	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:102249075G>C	ENST00000370345.3	-	23	3202	c.3105C>G	c.(3103-3105)ccC>ccG	p.P1035P		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1035	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		p.P1035P(2)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GGGGCTGTGAGGGAAGAATCC	0.537000													9	27					0	0	0.047766	0	0
FCRL2	79368	broad.mit.edu	37	1	157737060	157737060	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:157737060C>A	ENST00000361516.3	-	6	1171	c.1123G>T	c.(1123-1125)Ggg>Tgg	p.G375W	FCRL2_ENST00000392274.3_Missense_Mutation_p.G375W|FCRL2_ENST00000469986.1_Missense_Mutation_p.G122W|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	375	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	p.G375W(2)|p.G122W(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACTGGGCCCCCAGGCCGTTG	0.577000													82	97					4.78148e-37	9.49466e-37	0.048971	1	0
ZIC2	7546	broad.mit.edu	37	13	100637593	100637593	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:100637593C>T	ENST00000376335.3	+	3	1549	c.1256C>T	c.(1255-1257)cCg>cTg	p.P419L	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	419					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P419L(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGTCCTCCCCGCAGGGCTCT	0.711000													11	38					0	0	0.080935	0	0
DYM	54808	broad.mit.edu	37	18	46858254	46858254	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:46858254C>A	ENST00000269445.6	-	8	1200	c.743G>T	c.(742-744)gGa>gTa	p.G248V	DYM_ENST00000442713.2_Intron|DYM_ENST00000578396.1_Missense_Mutation_p.G93V	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	248						Golgi apparatus		p.G248V(2)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TGATGCAAGTCCATAAAGCAG	0.398000													22	124					2.98393e-07	3.5833e-07	0.076483	1	0
TRIM69	140691	broad.mit.edu	37	15	45052015	45052015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:45052015C>A	ENST00000558173.1	+	4	5039	c.294C>A	c.(292-294)taC>taA	p.Y98*	TRIM69_ENST00000558329.1_Nonsense_Mutation_p.Y81*|TRIM69_ENST00000329464.4_Nonsense_Mutation_p.Y302*|TRIM69_ENST00000561043.1_Nonsense_Mutation_p.Y65*|TRIM69_ENST00000338264.4_Nonsense_Mutation_p.Y143*|TRIM69_ENST00000560442.1_Nonsense_Mutation_p.Y98*|TRIM69_ENST00000559390.1_Nonsense_Mutation_p.Y302*			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	302	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding	p.Y302*(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TGGGCCAGTACAAAGGTCCTA	0.473000													10	108					1.33987e-11	1.86242e-11	0.069234	1	0
PRDM2	7799	broad.mit.edu	37	1	14106677	14106677	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:14106677G>T	ENST00000235372.7	+	8	3243	c.2387G>T	c.(2386-2388)aGc>aTc	p.S796I	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S595I|PRDM2_ENST00000311066.5_Missense_Mutation_p.S796I|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.S595I	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	796						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S796I(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAAACTGTGAGCCCTCCATGC	0.468000													54	66					9.72345e-25	1.68419e-24	0.048971	1	0
LILRA1	11024	broad.mit.edu	37	19	55106135	55106135	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:55106135C>T	ENST00000453777.1	+	4	246	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.L26F|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	26					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.L26F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCCAGGGACCCTCCCCAAGCC	0.587000													33	82					0	0	0.059317	0	0
CFH	3075	broad.mit.edu	37	1	196683021	196683021	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:196683021G>A	ENST00000367429.4	+	10	1733	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	498	Sushi 8.				complement activation, alternative pathway	extracellular space		p.G498E(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGGAAAGATGGATGGTCAGCT	0.333000													12	83					0	0	0.093190	0	0
TBC1D7	51256	broad.mit.edu	37	6	13321220	13321220	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:13321220C>A	ENST00000607658.1	-	3	370	c.220G>T	c.(220-222)Gcc>Tcc	p.A74S	TBC1D7_ENST00000343141.4_Missense_Mutation_p.A101S|TBC1D7_ENST00000379300.3_Missense_Mutation_p.A101S|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000356436.4_Missense_Mutation_p.A101S|TBC1D7_ENST00000379307.2_Missense_Mutation_p.A74S			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	101	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	p.A101S(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			TGAGGTGTGGCATCACTAACA	0.502000													127	243					1.04718e-44	2.14847e-44	0.048971	1	0
PCDHGB6	56100	broad.mit.edu	37	5	140789266	140789266	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:140789266G>T	ENST00000520790.1	+	1	1497	c.1497G>T	c.(1495-1497)ctG>ctT	p.L499L	PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1												p.L499L(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAGCCCCTGGCGGTGTCGT	0.642000													14	32					4.3838e-07	5.253e-07	0.105934	1	0
OTUD6A	139562	broad.mit.edu	37	X	69282458	69282458	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:69282458C>G	ENST00000338352.2	+	1	118	c.84C>G	c.(82-84)agC>agG	p.S28R		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	28								p.S28R(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGATCCGGAGCTTAAAAAACT	0.582000													14	14					0	0	0.105934	0	0
DDX42	11325	broad.mit.edu	37	17	61886919	61886919	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:61886919G>T	ENST00000578681.1	+	12	1753		c.e12-1		DDX42_ENST00000457800.2_Splice_Site|DDX42_ENST00000389924.2_Splice_Site|DDX42_ENST00000583590.1_Splice_Site|DDX42_ENST00000359353.5_Splice_Site	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.?(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TGATCTTATAGGGTCGACTGA	0.378000													11	86					3.86212e-05	4.31192e-05	0.069234	1	0
IGKV3-20	28912	broad.mit.edu	37	2	89442329	89442329	+	RNA	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:89442329G>T	ENST00000492167.1	-	0	127																											CCTGGAGACTGCGTCAACACA	0.498000													24	124					4.7796e-09	5.99878e-09	0.099896	1	0
GPR151	134391	broad.mit.edu	37	5	145895383	145895383	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:145895383C>T	ENST00000311104.2	-	1	370	c.294G>A	c.(292-294)gcG>gcA	p.A98A		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	98						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A98A(3)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTGGAGTACGCCGTAGCTC	0.512000													18	100					0	0	0.049695	0	0
DNAH8	1769	broad.mit.edu	37	6	38791356	38791356	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:38791356C>A	ENST00000359357.3	+	26	3342	c.3088C>A	c.(3088-3090)Ccc>Acc	p.P1030T	DNAH8_ENST00000449981.2_Missense_Mutation_p.P1247T|DNAH8_ENST00000441566.1_Missense_Mutation_p.P1030T					dynein, axonemal, heavy chain 8									p.P1030T(4)		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						GGCTAACAACCCCTCTCTGAC	0.318000													41	82					7.63091e-17	1.16881e-16	0.098360	1	0
TBCD	6904	broad.mit.edu	37	17	80726316	80726316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:80726316G>T	ENST00000355528.4	+	5	586	c.456G>T	c.(454-456)atG>atT	p.M152I	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.M152I	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	152					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	p.M152I(2)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCCGCTACATGCTTTTGCTCT	0.498000													184	212					7.48252e-65	1.61879e-64	0.048971	1	0
MUC16	94025	broad.mit.edu	37	19	9089844	9089844	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:9089844C>A	ENST00000397910.4	-	1	2174	c.1971G>T	c.(1969-1971)aaG>aaT	p.K657N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	657	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.K657N(4)		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						CAGCAGCCGTCTTGCTCACTG	0.532000													17	179					3.01185e-09	3.83201e-09	0.091800	1	0
SNTG1	54212	broad.mit.edu	37	8	51351136	51351136	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:51351136G>A	ENST00000522124.1	+	5	857	c.196G>A	c.(196-198)Gga>Aga	p.G66R	SNTG1_ENST00000518864.1_Missense_Mutation_p.G66R|SNTG1_ENST00000517473.1_Missense_Mutation_p.G66R|SNTG1_ENST00000276467.5_Missense_Mutation_p.G66R	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	66	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.G66R(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ACAAACAGTAGGAGGATTTGG	0.383000													9	33					0	0	0.047766	0	0
TMEM106B	54664	broad.mit.edu	37	7	12270059	12270059	+	Silent	SNP	T	T	C	rs142177964		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:12270059T>C	ENST00000396667.2	+	7	949	c.627T>C	c.(625-627)taT>taC	p.Y209Y	TMEM106B_ENST00000396668.3_Silent_p.Y209Y	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	209						integral to membrane		p.Y209Y(2)		NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		AAATGAGTTATATGTAGTAAG	0.269000													69	107					0	0	0.048971	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975892	76975892	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:76975892C>A	ENST00000409911.1	-	3	1928	c.1705G>T	c.(1705-1707)Gac>Tac	p.D569Y	LRRTM4_ENST00000409884.1_Missense_Mutation_p.D568Y|LRRTM4_ENST00000409093.1_Missense_Mutation_p.D568Y	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	568						integral to membrane		p.D568Y(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGCTGTGGTCTCGGCCCAGC	0.607000													17	142					4.96729e-08	6.11021e-08	0.049695	1	0
SEMA3D	223117	broad.mit.edu	37	7	84669987	84669987	+	Splice_Site	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:84669987A>T	ENST00000284136.6	-	9	1090		c.e9+1		SEMA3D_ENST00000484038.1_Splice_Site	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D						cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.?(2)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGTTGAACATACCTGGTTGTA	0.318000													24	25					0	0	0.083992	0	0
ZC3H6	376940	broad.mit.edu	37	2	113082754	113082754	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:113082754G>T	ENST00000409871.1	+	11	2467	c.2066G>T	c.(2065-2067)aGg>aTg	p.R689M	ZC3H6_ENST00000343936.4_Missense_Mutation_p.R689M	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	689							nucleic acid binding|zinc ion binding	p.R689M(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAACCTCATAGGGCACCAAGC	0.443000													12	38					1.61879e-10	2.17403e-10	0.093190	1	0
C1QTNF1	114897	broad.mit.edu	37	17	77044101	77044101	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:77044101C>A	ENST00000339142.2	+	5	1332	c.777C>A	c.(775-777)atC>atA	p.I259I	C1QTNF1_ENST00000581774.1_Silent_p.I259I|C1QTNF1_ENST00000580454.1_Silent_p.I259I|C1QTNF1_ENST00000580474.1_Silent_p.I259I|C1QTNF1_ENST00000579760.1_Silent_p.I259I|C1QTNF1_ENST00000578229.1_Silent_p.I177I|C1QTNF1_ENST00000392445.2_Silent_p.I259I|C1QTNF1_ENST00000354124.3_Silent_p.I269I|C1QTNF1_ENST00000311661.4_Silent_p.I177I|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000583904.1_Silent_p.I259I	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	259	C1q.					collagen		p.I177I(2)|p.I259I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AGAACGCCATCTTCAGCGAGG	0.622000													34	51					9.65963e-10	1.24901e-09	0.059317	1	0
MIB2	142678	broad.mit.edu	37	1	1562553	1562553	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:1562553G>T	ENST00000357210.4	+	11	1730	c.1514G>T	c.(1513-1515)cGg>cTg	p.R505L	MIB2_ENST00000518681.1_Missense_Mutation_p.R497L|MIB2_ENST00000504599.1_Missense_Mutation_p.R461L|MIB2_ENST00000520777.1_Missense_Mutation_p.R558L|MIB2_ENST00000505820.2_Missense_Mutation_p.R562L|MIB2_ENST00000378708.1_Missense_Mutation_p.R411L|MIB2_ENST00000378710.3_Missense_Mutation_p.R469L|MIB2_ENST00000378712.1_Missense_Mutation_p.R382L|MIB2_ENST00000355826.5_Missense_Mutation_p.R548L|MIB2_ENST00000360522.4_Missense_Mutation_p.R470L	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	505					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.R505L(1)		central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AACGCAGCCCGGGCTCTGGAC	0.682000													13	9					0.00136819	0.00144898	0.093190	1	0
CDH7	1005	broad.mit.edu	37	18	63527052	63527052	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:63527052G>T	ENST00000536984.2	+	10	2297	c.1603G>T	c.(1603-1605)Gat>Tat	p.D535Y	CDH7_ENST00000397968.2_Missense_Mutation_p.D535Y|CDH7_ENST00000323011.3_Missense_Mutation_p.D535Y			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	535	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D535Y(4)|p.L533_D535del(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTCATTGAAAGATAACAAAGG	0.368000													14	51					9.31168e-06	1.06529e-05	0.105934	1	0
SAGE1	55511	broad.mit.edu	37	X	134992580	134992580	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:134992580C>A	ENST00000535938.1	+	16	2038	c.1871C>A	c.(1870-1872)gCa>gAa	p.A624E	SAGE1_ENST00000324447.3_Missense_Mutation_p.A624E|SAGE1_ENST00000537770.1_Missense_Mutation_p.A248E|SAGE1_ENST00000370709.3_Missense_Mutation_p.A624E	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	624								p.A624E(2)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCAGATGCTGCAGTCACTCAC	0.468000													71	77					1.79293e-35	3.51011e-35	0.048971	1	0
SKP2	6502	broad.mit.edu	37	5	36152975	36152975	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:36152975G>T	ENST00000274255.6	+	2	307	c.111G>T	c.(109-111)ggG>ggT	p.G37G	SKP2_ENST00000508514.1_Silent_p.G37G|SKP2_ENST00000546211.1_5'UTR|SKP2_ENST00000274254.5_Silent_p.G37G	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	37					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.G37G(4)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGGCATGGGGGTCTCCGCCC	0.602000													58	104					1.46156e-29	2.69975e-29	0.048971	1	0
TP53	7157	broad.mit.edu	37	17	7578556	7578556	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:7578556T>A	ENST00000420246.2	-	5	508		c.e5-2		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		AGGGGAGTACTGTAGGAAGAG	0.552000		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)			17	24					0	0	0.033300	0	0
EVI2A	2123	broad.mit.edu	37	17	29645450	29645450	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:29645450G>T	ENST00000247270.3	-	3	987	c.651C>A	c.(649-651)gaC>gaA	p.D217E	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000462804.2_Missense_Mutation_p.D194E|EVI2A_ENST00000461237.1_Missense_Mutation_p.D194E|NF1_ENST00000581113.2_3'UTR|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.H134N	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	194						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)|p.D217E(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTTTCCAAGTGTCTGATTCAG	0.468000													33	41					5.60225e-13	8.04871e-13	0.041601	1	0
FAM98A	25940	broad.mit.edu	37	2	33810355	33810355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:33810355C>A	ENST00000238823.8	-	8	1185	c.1045G>T	c.(1045-1047)Gga>Tga	p.G349*	FAM98A_ENST00000441530.2_Nonsense_Mutation_p.G154*|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	350	Gly-rich.							p.G349*(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCTCGTCCTCCGTATGAGGAA	0.597000													47	105					8.48111e-28	1.52113e-27	0.048971	1	0
AMER3	205147	broad.mit.edu	37	2	131521360	131521360	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:131521360C>T	ENST00000423981.1	+	2	1825	c.1715C>T	c.(1714-1716)cCg>cTg	p.P572L	AMER3_ENST00000321420.4_Missense_Mutation_p.P572L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.P572L(1)									TGGGCACACCCGGGCACCACA	0.677000													11	56					0	0	0.080935	0	0
P2RX2	22953	broad.mit.edu	37	12	133198443	133198443	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:133198443C>A	ENST00000389110.3	+	11	1338	c.1301C>A	c.(1300-1302)cCg>cAg	p.P434Q	P2RX2_ENST00000343948.4_Missense_Mutation_p.P460Q|P2RX2_ENST00000348800.5_Intron|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000352418.4_Missense_Mutation_p.P362Q|P2RX2_ENST00000351222.4_Missense_Mutation_p.P342Q|P2RX2_ENST00000350048.5_Missense_Mutation_p.P410Q	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	434					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	p.P460Q(2)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CCAGCCTTCCCGCCCCTGCGG	0.692000													32	80					1.13719e-10	1.54591e-10	0.037714	1	0
KCNK18	338567	broad.mit.edu	37	10	118969187	118969187	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:118969187T>C	ENST00000334549.1	+	3	532	c.532T>C	c.(532-534)Tcc>Ccc	p.S178P		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	178						integral to membrane|plasma membrane		p.S178P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCCCTCCTCTCCAAGTGGTG	0.512000													27	128					0	0	0.091800	0	0
MTPAP	55149	broad.mit.edu	37	10	30629219	30629219	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:30629219C>A	ENST00000358107.4	-	4	880	c.881G>T	c.(880-882)cGg>cTg	p.R294L	MTPAP_ENST00000263063.3_Missense_Mutation_p.R164L|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	164					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	p.R294L(2)|p.R164L(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ATTACTTGACCGTACGCGTGA	0.403000													26	98					4.59853e-10	6.01596e-10	0.108266	1	0
ZNF827	152485	broad.mit.edu	37	4	146823920	146823920	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:146823920T>A	ENST00000508784.1	-	2	718	c.491A>T	c.(490-492)cAg>cTg	p.Q164L	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.Q164L			Q17R98	ZN827_HUMAN	zinc finger protein 827	164				Q -> R (in Ref. 2; BAC03591).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q164L(4)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACTGAGCTGCTGGGCGTGGTG	0.537000													39	109					0	0	0.042209	0	0
FAM155A	728215	broad.mit.edu	37	13	108518829	108518829	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:108518829C>A	ENST00000375915.2	-	1	254	c.116G>T	c.(115-117)cGa>cTa	p.R39L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	39						integral to membrane	binding	p.R39L(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CAGAGACAGTCGCCATTTCTG	0.557000													93	249					3.01496e-42	6.14035e-42	0.048971	1	0
PLXNB2	23654	broad.mit.edu	37	22	50719028	50719028	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:50719028C>A	ENST00000449103.1	-	25	4205	c.4065G>T	c.(4063-4065)acG>acT	p.T1355T	PLXNB2_ENST00000359337.4_Silent_p.T1355T			O15031	PLXB2_HUMAN	plexin B2	1355					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.T1398T(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGCGCCACCGTCAGCAGGG	0.627000													11	91					4.68919e-08	5.78091e-08	0.069234	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72520242	72520242	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:72520242C>T	ENST00000373208.1	+	22	3314	c.3314C>T	c.(3313-3315)cCt>cTt	p.P1105L	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P1102L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1102	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1105L(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGCcccaaccctggcccagac	0.637000													33	69					0	0	0.045705	0	0
ABCA13	154664	broad.mit.edu	37	7	48416095	48416095	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:48416095G>T	ENST00000435803.1	+	35	11285	c.11261G>T	c.(11260-11262)tGg>tTg	p.W3754L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3754					transport	integral to membrane	ATP binding|ATPase activity	p.W3699L(2)|p.W3754L(2)		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						ACATTTGGCTGGGTTTGCTGG	0.403000													62	235					4.09171e-25	7.13163e-25	0.048971	1	0
CHCHD4	131474	broad.mit.edu	37	3	14154566	14154566	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:14154566C>T	ENST00000295767.5	-	4	613	c.289G>A	c.(289-291)Ggg>Agg	p.G97R	CHCHD4_ENST00000396914.3_Missense_Mutation_p.G84R	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	84	CHCH.				protein transport|transmembrane transport	mitochondrial intermembrane space		p.G97R(2)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CAGTCTGACCCCTTGATCTCC	0.537000													14	82					0	0	0.020292	0	0
GUCY2F	2986	broad.mit.edu	37	X	108638599	108638599	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:108638599G>T	ENST00000218006.2	-	12	2686	c.2395C>A	c.(2395-2397)Cga>Aga	p.R799R		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	799	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.R799R(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAAGTTGGTCGTTGTTCTGCA	0.502000													134	129					1.08021e-59	2.32788e-59	0.048971	1	0
OR5L1	219437	broad.mit.edu	37	11	55579661	55579661	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:55579661C>A	ENST00000333973.2	+	1	808	c.719C>A	c.(718-720)aCc>aAc	p.T240N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T240N(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCCTTCTCCACCTGTGCTTCC	0.507000													58	109					8.28887e-21	1.36754e-20	0.048971	1	0
TDRD1	56165	broad.mit.edu	37	10	115973156	115973156	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:115973156A>G	ENST00000251864.2	+	15	2036	c.1883A>G	c.(1882-1884)aAa>aGa	p.K628R	TDRD1_ENST00000369280.1_Missense_Mutation_p.K628R|TDRD1_ENST00000422662.1_Missense_Mutation_p.K232R|TDRD1_ENST00000369282.1_Missense_Mutation_p.K628R|TDRD1_ENST00000369281.2_Missense_Mutation_p.K571R	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	628					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.K628R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGTCTCATGAAAAAACTTGTA	0.363000													5	114					0	0	0.021553	0	0
RSAD2	91543	broad.mit.edu	37	2	7036027	7036027	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:7036027G>A	ENST00000382040.3	+	6	1176	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	RSAD2_ENST00000541728.1_Missense_Mutation_p.G240E	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	347					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	p.G347E(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CTGAAGCGAGGAGGAAAATAC	0.443000													14	52					0	0	0.105934	0	0
MIR517B	574483	broad.mit.edu	37	19	54224383	54224383	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:54224383C>A	ENST00000385102.1	+	0	54					NR_030205.1																						TCGTGCATCCCTTTAGAGTGT	0.423000													21	132					1.96292e-10	2.62352e-10	0.055883	1	0
RLN2	6019	broad.mit.edu	37	9	5300244	5300244	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:5300244T>A	ENST00000381627.3	-	2	800	c.412A>T	c.(412-414)Agt>Tgt	p.S138C	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	138					female pregnancy	extracellular region	hormone activity	p.S138C(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		GCGGCTTCACTTTGTCTATTG	0.378000													41	139					0	0	0.092188	0	0
KIF21A	55605	broad.mit.edu	37	12	39734030	39734030	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:39734030C>A	ENST00000395670.3	-	16	2666	c.2247G>T	c.(2245-2247)caG>caT	p.Q749H	KIF21A_ENST00000544797.2_Missense_Mutation_p.Q736H|KIF21A_ENST00000361961.3_Missense_Mutation_p.Q736H|KIF21A_ENST00000361418.5_Missense_Mutation_p.Q749H|KIF21A_ENST00000541463.2_Missense_Mutation_p.Q736H			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	749					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.Q736H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CATACTGAGACTGATTTTTAA	0.338000													15	33					4.7546e-09	5.99447e-09	0.028581	1	0
HGF	3082	broad.mit.edu	37	7	81335640	81335640	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:81335640G>T	ENST00000222390.5	-	15	1946	c.1720C>A	c.(1720-1722)Cct>Act	p.P574T	HGF_ENST00000457544.2_Missense_Mutation_p.P569T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	574	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.P574T(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GATCCTTCAGGGCCATATACC	0.398000													97	49					1.07466e-44	2.19673e-44	0.048971	1	0
CD40LG	959	broad.mit.edu	37	X	135741330	135741330	+	Missense_Mutation	SNP	G	G	T	rs11575982	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:135741330G>T	ENST00000370629.2	+	5	598	c.542G>T	c.(541-543)cGg>cTg	p.R181L	CD40LG_ENST00000370628.2_Missense_Mutation_p.R160L	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	181					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	p.R181L(2)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	TGTTCCAATCGGGAAGCTTCG	0.463000									Immune Deficiency with Hyper-IgM				273	301					1.09378e-136	2.44234e-136	0.048971	1	0
POLG	5428	broad.mit.edu	37	15	89862224	89862224	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:89862224G>A	ENST00000268124.5	-	20	3544	c.3211C>T	c.(3211-3213)Cgt>Tgt	p.R1071C	POLG_ENST00000442287.2_Missense_Mutation_p.R1071C	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1071					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	p.R1071C(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ACCGGGGTACGTGGTATGTCA	0.587000								DNA polymerases (catalytic subunits)					20	68					0	0	0.076483	0	0
BIRC6	57448	broad.mit.edu	37	2	32667152	32667152	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:32667152T>A	ENST00000421745.2	+	18	4098	c.3964T>A	c.(3964-3966)Tta>Ata	p.L1322I		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1322					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.L1322I(2)|p.L1294I(2)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGTGCCATGTTACAGTTTTC	0.383000													15	75					0	0	0.028581	0	0
TENM1	10178	broad.mit.edu	37	X	123870955	123870955	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:123870955G>T	ENST00000422452.2	-	4	691	c.628C>A	c.(628-630)Ccc>Acc	p.P210T	TENM1_ENST00000371130.3_Missense_Mutation_p.P210T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.P212T(2)									GCTGCAGGGGGTGGCTTCCTG	0.622000													87	103					1.3466e-33	2.59069e-33	0.048971	1	0
SLC28A3	64078	broad.mit.edu	37	9	86912912	86912912	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:86912912C>A	ENST00000376238.4	-	7	741	c.692G>T	c.(691-693)tGg>tTg	p.W231L	SLC28A3_ENST00000537648.1_Missense_Mutation_p.W162L	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	231					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	p.W231L(2)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CCCGATTCCCCATAAGACAGG	0.418000													21	140					0.012319	0.0129234	0.062417	1	0
SPATA18	132671	broad.mit.edu	37	4	52944926	52944926	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:52944926C>A	ENST00000295213.4	+	8	1420	c.1046C>A	c.(1045-1047)gCa>gAa	p.A349E	SPATA18_ENST00000419395.2_Missense_Mutation_p.A317E	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	349					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.A349E(4)		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)			GCAAAAATGGCATTCAGACAC	0.383000													21	105					1.2644e-06	1.48943e-06	0.055883	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5239326	5239326	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:5239326C>T	ENST00000274181.7	+	15	2355	c.2217C>T	c.(2215-2217)aaC>aaT	p.N739N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	739	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N739N(4)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGGTGTGTAACGGGAATAACT	0.512000													64	418					0	0	0.048971	0	0
TSGA13	114960	broad.mit.edu	37	7	130353924	130353924	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:130353924G>T	ENST00000456951.1	-	9	1609	c.758C>A	c.(757-759)cCc>cAc	p.P253H	TSGA13_ENST00000356588.3_Missense_Mutation_p.P253H			Q96PP4	TSG13_HUMAN	testis specific, 13	253								p.P253H(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GCTCTCCCCGGGCGCGGTTCT	0.597000													166	117					1.96943e-83	4.32807e-83	0.048971	1	0
ZNF611	81856	broad.mit.edu	37	19	53208882	53208882	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:53208882C>T	ENST00000543227.1	-	6	1700	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	ZNF611_ENST00000453741.2_Missense_Mutation_p.D407N|ZNF611_ENST00000595798.1_Missense_Mutation_p.D407N|ZNF611_ENST00000540744.1_Missense_Mutation_p.D476N|ZNF611_ENST00000319783.1_Missense_Mutation_p.D476N|ZNF611_ENST00000602162.1_Missense_Mutation_p.D407N	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D476N(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCTCCACAGTCAATTCTAGTA	0.378000													25	155					0	0	0.091800	0	0
OR56A1	120796	broad.mit.edu	37	11	6048891	6048891	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:6048891G>T	ENST00000316650.5	-	1	80	c.44C>A	c.(43-45)cCa>cAa	p.P15Q		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P15Q(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCAGAGACTGGGACAGTGGA	0.522000													49	94					2.01807e-28	3.66682e-28	0.048971	1	0
NLRC3	197358	broad.mit.edu	37	16	3615000	3615000	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:3615000C>A	ENST00000301749.7	-	0	443				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	p.G60V(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGGCCCTGGCCGGCCTCCCT	0.687000													20	13					2.32416e-17	3.59953e-17	0.069288	1	0
PLXDC1	57125	broad.mit.edu	37	17	37264449	37264449	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:37264449C>A	ENST00000315392.4	-	5	730	c.519G>T	c.(517-519)caG>caT	p.Q173H	PLXDC1_ENST00000444911.2_Missense_Mutation_p.Q133H|PLXDC1_ENST00000539608.1_Missense_Mutation_p.Q100H|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Missense_Mutation_p.Q173H	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	173					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		p.Q173H(2)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCGCCACATACTGAGTAGCTG	0.537000													84	126					6.71967e-41	1.34879e-40	0.048971	1	0
CDH20	28316	broad.mit.edu	37	18	59217422	59217422	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:59217422C>A	ENST00000262717.4	+	11	2258	c.1860C>A	c.(1858-1860)ggC>ggA	p.G620G	CDH20_ENST00000538374.1_Silent_p.G620G|CDH20_ENST00000536675.2_Silent_p.G620G			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	620					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G620G(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGAGCCGGGGCGCCCTCATTG	0.582000													8	91					1.06961e-07	1.30418e-07	0.038147	1	0
MED23	9439	broad.mit.edu	37	6	131912668	131912668	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:131912668C>A	ENST00000403834.3	-	26	3663		c.e26-1		MED23_ENST00000354577.4_Splice_Site|MED23_ENST00000545957.1_Splice_Site|MED23_ENST00000368060.3_Splice_Site|MED23_ENST00000479213.1_Splice_Site|MED23_ENST00000368068.3_Splice_Site|MED23_ENST00000368058.1_Splice_Site			Q9ULK4	MED23_HUMAN	mediator complex subunit 23						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.?(4)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AATATGGCTCCTTTAAAATCG	0.403000													23	36					1.28384e-07	1.55855e-07	0.062417	1	0
NRCAM	4897	broad.mit.edu	37	7	107830179	107830179	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:107830179G>T	ENST00000379028.3	-	20	2415	c.1945C>A	c.(1945-1947)Cct>Act	p.P649T	NRCAM_ENST00000351718.4_Missense_Mutation_p.P633T|NRCAM_ENST00000413765.2_Missense_Mutation_p.P630T|NRCAM_ENST00000425651.2_Missense_Mutation_p.P649T|NRCAM_ENST00000379022.4_Missense_Mutation_p.P649T|NRCAM_ENST00000379024.4_Missense_Mutation_p.P630T			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	649	Fibronectin type-III 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.P649T(2)|p.P633T(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCAAAGGGAGGATTTGGGACA	0.448000													35	21					2.42023e-17	3.72756e-17	0.059317	1	0
RSPH4A	345895	broad.mit.edu	37	6	116938033	116938033	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:116938033G>T	ENST00000229554.5	+	1	384	c.247G>T	c.(247-249)Gct>Tct	p.A83S	RSPH4A_ENST00000368580.4_Missense_Mutation_p.A83S|RSPH4A_ENST00000368581.4_Missense_Mutation_p.A83S	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	83					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.A83S(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATCATCACCTGCTCCTGTCTC	0.647000									Kartagener syndrome				16	41					1.02788e-11	1.43234e-11	0.033300	1	0
ATRNL1	26033	broad.mit.edu	37	10	117061553	117061553	+	Splice_Site	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:117061553C>G	ENST00000355044.3	+	17	2944	c.2818_splice	c.e17+1	p.P940_splice	ATRNL1_ENST00000423111.2_Splice_Site_p.P37_splice|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	940						integral to membrane	sugar binding	p.P940A(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CACCTGCTCCCGTAAGTATTT	0.358000													17	106					0	0	0.028581	0	0
MUC3A	4584	broad.mit.edu	37	7	100606797	100606797	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:100606797C>A	ENST00000319509.7	+	4	1887	c.1887C>A	c.(1885-1887)tcC>tcA	p.S629S						mucin 3A, cell surface associated									p.S629S(4)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AGATCCTGTCCCTGAGGTAGG	0.507000													11	10					3.86212e-05	4.31192e-05	0.069234	1	0
LYZL2	119180	broad.mit.edu	37	10	30918543	30918543	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:30918543C>A	ENST00000375318.2	-	1	148	c.92G>T	c.(91-93)gGc>gTc	p.G31V		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.G31V(2)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				ATTCCTGGTGCCTGCCGCAGA	0.522000													19	55					1.96292e-10	2.62352e-10	0.055883	1	0
SLC14A2	8170	broad.mit.edu	37	18	43249375	43249375	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:43249375G>C	ENST00000255226.6	+	16	2957	c.2141G>C	c.(2140-2142)gGc>gCc	p.G714A	SLC14A2_ENST00000589658.1_Missense_Mutation_p.G191A|SLC14A2_ENST00000586448.1_Missense_Mutation_p.G714A|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	714						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.G714A(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGCCACGGGCCACTACAAC	0.557000													39	221					0	0	0.080422	0	0
SBF1	6305	broad.mit.edu	37	22	50900255	50900255	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:50900255C>A	ENST00000380817.2	-	21	2796	c.2613G>T	c.(2611-2613)cgG>cgT	p.R871R	SBF1_ENST00000348911.6_Silent_p.R872R|SBF1_ENST00000390679.3_Silent_p.R871R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	871					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	p.R871R(4)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGGCTCTCCCGCTGCACGG	0.647000													27	69					1.74807e-11	2.40576e-11	0.045705	1	0
TYRP1	7306	broad.mit.edu	37	9	12708116	12708116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:12708116G>T	ENST00000388918.5	+	7	1510	c.1381G>T	c.(1381-1383)Gga>Tga	p.G461*	TYRP1_ENST00000381136.2_Nonsense_Mutation_p.G171*|TYRP1_ENST00000473504.1_3'UTR|TYRP1_ENST00000381137.2_Nonsense_Mutation_p.G170*|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	461					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.G461*(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AGACAACCTGGGATACACTTA	0.388000									Oculocutaneous Albinism				21	33					1.50039e-11	2.07002e-11	0.062417	1	0
BAI1	575	broad.mit.edu	37	8	143623594	143623594	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:143623594G>T	ENST00000517894.1	+	28	4893	c.3999G>T	c.(3997-3999)ctG>ctT	p.L1333L	BAI1_ENST00000323289.5_Silent_p.L1333L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1333					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.L1333L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACTCGGAGCTGAGCCGGGCCC	0.642000													46	71					4.18559e-23	7.11678e-23	0.048971	1	0
DAOA-AS1	282706	broad.mit.edu	37	13	106118506	106118506	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:106118506C>A	ENST00000448407.1	-	0	739					NR_040247.1																						gagctacaccccaaattagtg	0.428000													3	12					0.00024832	0.000268089	0.009096	1	0
SLC5A9	200010	broad.mit.edu	37	1	48694626	48694626	+	Splice_Site	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:48694626C>T	ENST00000236495.5	+	3	389	c.339_splice	c.e3+1	p.N113_splice	SLC5A9_ENST00000438567.2_Splice_Site_p.N113_splice|SLC5A9_ENST00000420136.2_Splice_Site_p.N106_splice|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000533824.1_Splice_Site_p.N113_splice	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	113						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	p.N106N(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TCGAGTGGAACGTAAGGAAGC	0.582000													10	145					0	0	0.058154	0	0
ISYNA1	51477	broad.mit.edu	37	19	18546722	18546722	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:18546722T>C	ENST00000545187.1	-	5	821	c.535A>G	c.(535-537)Atc>Gtc	p.I179V	ISYNA1_ENST00000578963.1_Missense_Mutation_p.I201V|ISYNA1_ENST00000457269.3_Missense_Mutation_p.I275V|ISYNA1_ENST00000338128.7_Missense_Mutation_p.I329V|ISYNA1_ENST00000317018.6_Missense_Mutation_p.I127V			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	329					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	p.I329V(2)		breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TAACTCACGATGGACATGGTC	0.627000													73	161					0	0	0.048971	0	0
ABCA13	154664	broad.mit.edu	37	7	48654949	48654949	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:48654949G>A	ENST00000435803.1	+	59	14837	c.14813G>A	c.(14812-14814)gGt>gAt	p.G4938D	ABCA13_ENST00000544596.1_Missense_Mutation_p.G668D	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4938	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.G4883D(1)|p.G4938D(1)		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						AAATGTCTTGGTTCTCCTCAG	0.418000													4	18					0	0	0.021553	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418193	38418193	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:38418193G>T	ENST00000322350.5	+	12	1866	c.1520G>T	c.(1519-1521)cGg>cTg	p.R507L	EGFLAM_ENST00000354891.3_Missense_Mutation_p.R507L|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R273L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	507	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.R507L(4)		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)					ATTACTTTCCGGACACCTCTC	0.453000													39	150					1.22674e-20	2.00609e-20	0.104719	1	0
TMEM143	55260	broad.mit.edu	37	19	48845850	48845850	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:48845850G>A	ENST00000293261.3	-	6	1228	c.912C>T	c.(910-912)ctC>ctT	p.L304L	TMEM143_ENST00000436660.2_Silent_p.L239L|TMEM143_ENST00000377431.2_Silent_p.L204L|TMEM143_ENST00000541566.1_Silent_p.L194L|TMEM143_ENST00000435956.3_Silent_p.L269L	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	304						integral to membrane|mitochondrion		p.L304L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TGGCCACCTTGAGGTCGGTTA	0.672000													5	46					0	0	0.014758	0	0
ASXL3	80816	broad.mit.edu	37	18	31319419	31319419	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:31319419C>A	ENST00000269197.5	+	11	2051	c.2051C>A	c.(2050-2052)tCc>tAc	p.S684Y		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	684	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.S391Y(2)|p.S684Y(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTCCAATATCCACTTCACCT	0.363000													56	101					2.31418e-15	3.50595e-15	0.048971	1	0
PGLYRP4	57115	broad.mit.edu	37	1	153312856	153312856	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:153312856C>A	ENST00000368739.3	-	7	1171		c.e7+1		PGLYRP4_ENST00000359650.5_Splice_Site			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4						defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.?(3)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACCCACTCACTTATAACCAA	0.512000													56	80					1.53716e-24	2.65422e-24	0.048971	1	0
DMP1	1758	broad.mit.edu	37	4	88584230	88584230	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:88584230C>A	ENST00000339673.6	+	6	1399	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K	DMP1_ENST00000282479.7_Missense_Mutation_p.Q418K|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	434					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.Q434K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GGAGGGCCTCCAGTCTCACAG	0.547000													43	78					6.1244e-12	8.66455e-12	0.098360	1	0
FBLN2	2199	broad.mit.edu	37	3	13679148	13679148	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:13679148C>T	ENST00000404922.3	+	18	3544	c.3425C>T	c.(3424-3426)aCg>aTg	p.T1142M	FBLN2_ENST00000295760.7_Missense_Mutation_p.T1095M|FBLN2_ENST00000492059.1_Missense_Mutation_p.T1142M|FBLN2_ENST00000535798.1_Missense_Mutation_p.T1121M	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1095	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.T561M(2)|p.T1142M(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AACTTCCAGACGGGCCTCCTG	0.627000													13	41					0	0	0.093190	0	0
ATP2B2	491	broad.mit.edu	37	3	10420009	10420009	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:10420009G>A	ENST00000397077.1	-	9	1568	c.993C>T	c.(991-993)gcC>gcT	p.A331A	ATP2B2_ENST00000352432.4_Silent_p.A376A|ATP2B2_ENST00000343816.4_Silent_p.A362A|ATP2B2_ENST00000360273.2_Silent_p.A376A|ATP2B2_ENST00000383800.4_Silent_p.A331A			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	376					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.A376A(2)|p.A331A(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGTGCATGCTGGCCTTCTTCC	0.647000													27	146					0	0	0.099896	0	0
VGLL3	389136	broad.mit.edu	37	3	87018101	87018101	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:87018101C>A	ENST00000398399.2	-	3	939	c.576G>T	c.(574-576)ctG>ctT	p.L192L	VGLL3_ENST00000383698.3_Silent_p.L192L	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.L192L(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGTCTGATGCAGGTTGTGTC	0.582000													24	130					7.88262e-20	1.27036e-19	0.083992	1	0
RRN3P2	653390	broad.mit.edu	37	16	29107532	29107532	+	RNA	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:29107532T>A	ENST00000564580.1	+	0	924																		p.A285A(2)									GGCAGGCTGCTGGAAATTATA	0.373000													38	88					0	0	0.045515	0	0
CXADRP3	440224	broad.mit.edu	37	18	14479211	14479211	+	RNA	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:14479211C>G	ENST00000581457.1	-	0	697					NR_024076.1																						GATACTCAAACTTCTGGTGAA	0.567000													3	21					0	0	0.004672	0	0
DDIT3	1649	broad.mit.edu	37	12	57910683	57910683	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:57910683C>A	ENST00000551116.1	-	4	755	c.488G>T	c.(487-489)cGg>cTg	p.R163L	DDIT3_ENST00000346473.3_Missense_Mutation_p.R140L|DDIT3_ENST00000552740.1_Missense_Mutation_p.R163L|DDIT3_ENST00000547303.1_Missense_Mutation_p.R140L	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	140					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	p.R140L(2)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						CTGCTTGAGCCGTTCATTCTC	0.537000			T	FUS	liposarcoma								43	139					5.44703e-19	8.70272e-19	0.111260	1	0
ELMO1	9844	broad.mit.edu	37	7	37298872	37298872	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:37298872G>C	ENST00000310758.4	-	6	974	c.327C>G	c.(325-327)agC>agG	p.S109R	ELMO1_ENST00000448602.1_Missense_Mutation_p.S109R|ELMO1_ENST00000442504.1_Missense_Mutation_p.S109R	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	109					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.S109_L110>RI(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCCGGGAGAGGCTGGCCAAGT	0.547000													68	64					0	0	0.048971	0	0
AHSG	197	broad.mit.edu	37	3	186335082	186335082	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:186335082C>A	ENST00000411641.2	+	4	735	c.516C>A	c.(514-516)aaC>aaA	p.N172K	AHSG_ENST00000273784.5_Missense_Mutation_p.N173K			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	172	Cystatin fetuin-A-type 2.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).	acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	p.N172K(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCGCCTTCAACGCTCAGAACA	0.602000											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	133					7.41877e-09	9.29018e-09	0.062417	1	0
OR2M2	391194	broad.mit.edu	37	1	248343333	248343333	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:248343333G>T	ENST00000359682.2	+	1	46	c.46G>T	c.(46-48)Gga>Tga	p.G16*		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATCCTCCTTGGAATCTTCAA	0.438000													58	309					6.83704e-37	1.35281e-36	0.048971	1	0
SUN1	23353	broad.mit.edu	37	7	912908	912908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:912908G>A	ENST00000456758.2	+	25	2865	c.2865G>A	c.(2863-2865)tgG>tgA	p.W955*	SUN1_ENST00000401592.1_Nonsense_Mutation_p.W766*|SUN1_ENST00000452783.2_Nonsense_Mutation_p.W663*|SUN1_ENST00000389574.3_Nonsense_Mutation_p.W683*|SUN1_ENST00000413514.2_Nonsense_Mutation_p.W564*|SUN1_ENST00000405266.1_Nonsense_Mutation_p.W803*|SUN1_ENST00000425407.2_Nonsense_Mutation_p.W683*			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	793					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	p.W766*(2)|p.W683*(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCTAACTGGGGCCATCCTG	0.388000											OREG0017816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	143	438					0	0	0.048971	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													3	20					0	0	0.021553	0	0
FAM124A	220108	broad.mit.edu	37	13	51855350	51855350	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:51855350G>A	ENST00000322475.8	+	4	1734	c.1599G>A	c.(1597-1599)tcG>tcA	p.S533S	FAM124A_ENST00000280057.6_Silent_p.S569S	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	533								p.S569S(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCCCAGGGTCGGCTGGCCCCG	0.577000													43	89					0	0	0.111260	0	0
AKR1E2	83592	broad.mit.edu	37	10	4875556	4875556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:4875556C>A	ENST00000298375.7	+	3	293	c.222C>A	c.(220-222)tgC>tgA	p.C74*	AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000345253.5_Nonsense_Mutation_p.C74*|AKR1E2_ENST00000532248.1_Nonsense_Mutation_p.C74*|AKR1E2_ENST00000334019.4_Nonsense_Mutation_p.C74*	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	74						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.C74*(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						GGTGCACCTGCCATAAGAAGT	0.532000													32	140					1.7881e-09	2.30135e-09	0.037714	1	0
TAF1L	138474	broad.mit.edu	37	9	32633201	32633201	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:32633201G>T	ENST00000242310.4	-	1	2466	c.2377C>A	c.(2377-2379)Cgg>Agg	p.R793R		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	793					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R793R(2)|p.R793W(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACTAATTCCCGAATATAGTAA	0.438000													23	155					1.10513e-12	1.57552e-12	0.069288	1	0
ZIC1	7545	broad.mit.edu	37	3	147128284	147128284	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:147128284G>T	ENST00000282928.4	+	1	1114	c.385G>T	c.(385-387)Ggg>Tgg	p.G129W		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	129					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G129W(1)|p.G129R(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CGGGGGCTTCGGGGGCCCACA	0.716000													7	26					0.00621372	0.00653086	0.058154	1	0
UGT1A10	54575	broad.mit.edu	37	2	234545808	234545808	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:234545808T>A	ENST00000344644.5	+	1	709	c.640T>A	c.(640-642)Ttg>Atg	p.L214M	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.L214M	NM_019075.2	NP_061948.1												p.L214M(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		CATCGTGCACTTGGAGGACCA	0.453000													68	311					0	0	0.048971	0	0
LIMA1	51474	broad.mit.edu	37	12	50586248	50586248	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:50586248G>A	ENST00000547825.1	-	3	1490	c.221C>T	c.(220-222)cCc>cTc	p.P74L	LIMA1_ENST00000552491.1_Missense_Mutation_p.P74L|LIMA1_ENST00000552783.1_Missense_Mutation_p.P217L|LIMA1_ENST00000552823.1_Missense_Mutation_p.P216L|LIMA1_ENST00000552909.1_Missense_Mutation_p.P216L|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.P377L|LIMA1_ENST00000341247.4_Missense_Mutation_p.P376L	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	376					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.P376I(2)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CATTGCTTTGGGAGGAGAACT	0.448000													31	95					0	0	0.054565	0	0
KIT	3815	broad.mit.edu	37	4	55593452	55593452	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:55593452T>A	ENST00000288135.5	+	10	1706	c.1609T>A	c.(1609-1611)Tgc>Agc	p.C537S		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	537					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	p.C537S(2)		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)	TGGCATGATGTGCATTATTGT	0.383000		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				44	182					0	0	0.045515	0	0
GFAP	2670	broad.mit.edu	37	17	42988648	42988648	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:42988648G>T	ENST00000253408.5	-	6	1148	c.1083C>A	c.(1081-1083)atC>atA	p.I361I	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.I361I|GFAP_ENST00000435360.2_Silent_p.I361I	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	361	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.I361I(4)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGCGATCTCGATGTCCAGGG	0.632000													54	80					1.0442e-30	1.96805e-30	0.048971	1	0
IL3RA	3563	broad.mit.edu	37	X	1460672	1460672	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:1460672G>T	ENST00000331035.4	+	2	363	c.14G>T	c.(13-15)tGg>tTg	p.W5L	IL3RA_ENST00000381469.2_Missense_Mutation_p.W5L	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	5						integral to membrane|plasma membrane	interleukin-3 receptor activity	p.W5L(2)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTCCTCCTTTGGCTCACGCTG	0.607000													28	102					1.5548e-18	2.46287e-18	0.108266	1	0
TET1	80312	broad.mit.edu	37	10	70405010	70405010	+	Missense_Mutation	SNP	A	A	G	rs77500190		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:70405010A>G	ENST00000373644.4	+	4	2733	c.2524A>G	c.(2524-2526)Atc>Gtc	p.I842V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	842					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.I842V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTCACACTCCATCATAAATCA	0.398000													40	170					0	0	0.080422	0	0
CCDC136	64753	broad.mit.edu	37	7	128452070	128452070	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:128452070G>T	ENST00000297788.4	+	13	2612	c.2245G>T	c.(2245-2247)Ggt>Tgt	p.G749C	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	749						integral to membrane	protein binding	p.G749F(4)|p.G749S(2)|p.G865F(2)|p.G865S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAAGAGCTATGGTAGCATGGT	0.498000													84	64					6.85908e-49	1.4337e-48	0.048971	1	0
PZP	5858	broad.mit.edu	37	12	9301592	9301592	+	Splice_Site	SNP	T	T	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:9301592T>G	ENST00000261336.2	-	36	4455		c.e36-2		PZP_ENST00000381997.2_Splice_Site	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.?(4)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GCTCTGTATCTATGGAGAAAA	0.413000													23	49					0	0	0.076483	0	0
FRG1	2483	broad.mit.edu	37	4	190876250	190876250	+	Missense_Mutation	SNP	G	G	T	rs146824996	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:190876250G>T	ENST00000226798.4	+	5	598	c.376G>T	c.(376-378)Gtt>Ttt	p.V126F	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	126					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.V126F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGGACTTGTTGTTGGGCGTTC	0.353000													11	168					0.00010058	0.000110737	0.093190	1	0
FGD6	55785	broad.mit.edu	37	12	95602937	95602937	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:95602937C>A	ENST00000343958.4	-	2	2346	c.2123G>T	c.(2122-2124)cGg>cTg	p.R708L	FGD6_ENST00000549499.1_Missense_Mutation_p.R708L|FGD6_ENST00000546711.1_Missense_Mutation_p.R708L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	708					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.R708L(2)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGTCTGGCCCCGAGACTTCTT	0.478000													54	118					1.72184e-34	3.33568e-34	0.048971	1	0
ACAP3	116983	broad.mit.edu	37	1	1237396	1237396	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:1237396G>A	ENST00000354700.5	-	5	512	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	ACAP3_ENST00000353662.3_Missense_Mutation_p.R62W	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	104					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AGCTGCTGCCGCACGGACCTC	0.647000													7	67					0	0	0.069234	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407380	105407380	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:105407380G>C	ENST00000333244.5	-	7	14527	c.14408C>G	c.(14407-14409)gCc>gGc	p.A4803G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4803						nucleus		p.A4803G(2)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGGGCCAAGGCAGCTCTGGG	0.517000													20	55					0	0	0.049695	0	0
NLRP14	338323	broad.mit.edu	37	11	7064372	7064372	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:7064372G>T	ENST00000299481.4	+	4	1461	c.1115G>T	c.(1114-1116)tGc>tTc	p.C372F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	372	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.C372F(2)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCCCTAGTGTGCTGGGCCGCT	0.443000													30	189					1.13719e-10	1.54591e-10	0.037714	1	0
ZNF135	7694	broad.mit.edu	37	19	58579730	58579730	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:58579730G>A	ENST00000506786.1	+	5	2306	c.1752G>A	c.(1750-1752)agG>agA	p.R584R	ZNF135_ENST00000401053.4_Silent_p.R650R|ZNF135_ENST00000313434.5_Silent_p.R626R|ZNF135_ENST00000511556.1_Silent_p.R638R|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Silent_p.R626R			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	638					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R650K(2)|p.R626K(2)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGCACCGGAGGATCCACACAG	0.542000													17	84					0	0	0.038395	0	0
DST	667	broad.mit.edu	37	6	56516040	56516040	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:56516040G>A	ENST00000370754.5	-	10	1117	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L	DST_ENST00000370788.2_Missense_Mutation_p.P195L|DST_ENST00000312431.6_Missense_Mutation_p.P195L|DST_ENST00000421834.2_Missense_Mutation_p.P195L|DST_ENST00000361203.3_Missense_Mutation_p.P195L|DST_ENST00000370769.4_Missense_Mutation_p.P195L			Q03001	DYST_HUMAN	dystonin	195					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.P195M(2)|p.P373M(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATCAGGTCCGGCCTAGGAAA	0.328000													6	14					0	0	0.038147	0	0
USH2A	7399	broad.mit.edu	37	1	216369952	216369952	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:216369952G>T	ENST00000366943.2	-	19	4580	c.4194C>A	c.(4192-4194)gaC>gaA	p.D1398E	USH2A_ENST00000366942.3_Missense_Mutation_p.D1398E|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.D1398E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1398	Fibronectin type-III 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D1398E(2)		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)		GCATATTGATGTCATACCCCA	0.413000										HNSCC(13;0.011)			52	93					2.01807e-28	3.66682e-28	0.048971	1	0
WDR7	23335	broad.mit.edu	37	18	54694337	54694337	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:54694337G>T	ENST00000254442.3	+	28	4583	c.4372G>T	c.(4372-4374)Ggc>Tgc	p.G1458C	WDR7_ENST00000589935.1_Missense_Mutation_p.G35C|WDR7_ENST00000357574.3_Missense_Mutation_p.G1425C	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1458								p.G1458C(2)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CGCGTCCCCCGGCTCCCACAA	0.617000													17	90					3.57192e-18	5.64202e-18	0.038395	1	0
C2orf71	388939	broad.mit.edu	37	2	29295827	29295827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:29295827C>A	ENST00000331664.5	-	1	1300	c.1301G>T	c.(1300-1302)tGc>tTc	p.C434F		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	434					response to stimulus|visual perception	photoreceptor outer segment		p.C434F(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACTGGAGAGGCATGGGCTCCT	0.567000													61	97					2.93687e-30	5.49798e-30	0.048971	1	0
PRKCB	5579	broad.mit.edu	37	16	24166178	24166178	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:24166178G>T	ENST00000303531.7	+	10	1391	c.1239_splice	c.e10+1	p.M413_splice	PRKCB_ENST00000321728.7_Splice_Site_p.M413_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	413	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.M413N(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCCAGACCATGGTAACTTGTC	0.582000													23	21					6.44725e-10	8.39502e-10	0.069288	1	0
SPATA5	166378	broad.mit.edu	37	4	123868550	123868550	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:123868550C>T	ENST00000274008.3	+	9	1690	c.1621C>T	c.(1621-1623)Ccc>Tcc	p.P541S	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	541					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	p.P541S(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCGAAGGGTACCCCATTTGCT	0.493000													33	122					0	0	0.045705	0	0
OPRM1	4988	broad.mit.edu	37	6	154411267	154411267	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:154411267C>A	ENST00000414028.2	+	2	647	c.597C>A	c.(595-597)gcC>gcA	p.A199A	OPRM1_ENST00000520708.1_Silent_p.A99A|OPRM1_ENST00000229768.5_Silent_p.A199A|OPRM1_ENST00000428397.2_Silent_p.A199A|OPRM1_ENST00000337049.4_Silent_p.A199A|OPRM1_ENST00000330432.7_Silent_p.A199A|OPRM1_ENST00000524163.1_Silent_p.A199A|OPRM1_ENST00000522236.1_Silent_p.A99A|OPRM1_ENST00000435918.2_Silent_p.A199A|OPRM1_ENST00000522555.1_Silent_p.A99A|OPRM1_ENST00000518759.1_Silent_p.A118A|OPRM1_ENST00000419506.2_Silent_p.A199A|OPRM1_ENST00000452687.2_Silent_p.A199A|OPRM1_ENST00000434900.2_Silent_p.A292A|OPRM1_ENST00000360422.4_Silent_p.A199A	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	199					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.A199A(4)|p.A292A(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCTCTTCAGCCATTGGTCTTC	0.468000													46	71					1.02687e-29	1.90313e-29	0.045515	1	0
NCLN	56926	broad.mit.edu	37	19	3204605	3204605	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:3204605C>T	ENST00000246117.4	+	9	1495	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	NCLN_ENST00000590671.1_Missense_Mutation_p.S281F	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	355					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding	p.S355F(1)		kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GTACGGTTCTCCATGGTGCAC	0.687000													10	62					0	0	0.093190	0	0
KRT82	3888	broad.mit.edu	37	12	52788890	52788890	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:52788890C>A	ENST00000257974.2	-	9	1488	c.1411G>T	c.(1411-1413)Ggc>Tgc	p.G471C	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	471	Tail.					keratin filament	protein binding|structural constituent of epidermis	p.G471C(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		ATGCTGCAGCCCCCATTGCTC	0.632000													9	75					0.000673444	0.000717308	0.069234	1	0
SNPH	9751	broad.mit.edu	37	20	1286120	1286120	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:1286120G>T	ENST00000381867.1	+	7	1681	c.1039G>T	c.(1039-1041)Ggt>Tgt	p.G347C	SNPH_ENST00000381873.3_Missense_Mutation_p.G303C			O15079	SNPH_HUMAN	syntaphilin	303					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	p.G303C(2)|p.G347C(2)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CATGGAGGCTGGTGTGCAGGC	0.627000													39	97					4.29476e-34	8.29127e-34	0.048971	1	0
KCNK3	3777	broad.mit.edu	37	2	26950707	26950707	+	Silent	SNP	C	C	T	rs112956865		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:26950707C>T	ENST00000302909.3	+	2	581	c.456C>T	c.(454-456)gcC>gcT	p.A152A		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	152					synaptic transmission	integral to plasma membrane		p.A152A(1)		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGGCGCGCCGACGTGTCCA	0.647000													11	99					0	0	0.093190	0	0
NLRP1	22861	broad.mit.edu	37	17	5462598	5462598	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:5462598G>A	ENST00000345221.3	-	4	1972	c.1418C>T	c.(1417-1419)gCa>gTa	p.A473V	NLRP1_ENST00000572272.1_Missense_Mutation_p.A473V|NLRP1_ENST00000262467.5_Missense_Mutation_p.A473V|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.A473V|NLRP1_ENST00000354411.3_Missense_Mutation_p.A473V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A473V	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	473	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.A473V(6)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TACCCAACGTGCCTGCTCCAA	0.502000													8	31					0	0	0.047766	0	0
TIMD4	91937	broad.mit.edu	37	5	156376676	156376676	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:156376676A>C	ENST00000274532.2	-	4	802	c.746T>G	c.(745-747)cTg>cGg	p.L249R	TIMD4_ENST00000407087.3_Missense_Mutation_p.L249R	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	249	Ser-rich.					integral to membrane		p.L249R(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGATGTCAGCAGGACAGTGTC	0.458000													12	79					0	0	0.105934	0	0
PRDM14	63978	broad.mit.edu	37	8	70981463	70981463	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:70981463G>T	ENST00000276594.2	-	2	834	c.633C>A	c.(631-633)ccC>ccA	p.P211P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P211P(2)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCTCCAGGCTGGGAGTGACCC	0.592000													47	110					1.47857e-17	2.30276e-17	0.048971	1	0
ACSL6	23305	broad.mit.edu	37	5	131323839	131323839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:131323839C>A	ENST00000379264.2	-	7	841	c.733G>T	c.(733-735)Ggc>Tgc	p.G245C	ACSL6_ENST00000379244.1_Missense_Mutation_p.G220C|ACSL6_ENST00000544770.1_Missense_Mutation_p.G129C|ACSL6_ENST00000379240.1_Missense_Mutation_p.G220C|ACSL6_ENST00000379272.2_Missense_Mutation_p.G235C|ACSL6_ENST00000357096.1_Missense_Mutation_p.G185C|ACSL6_ENST00000379249.3_Missense_Mutation_p.G220C|ACSL6_ENST00000543479.1_Missense_Mutation_p.G220C|ACSL6_ENST00000379246.1_Missense_Mutation_p.G231C|ACSL6_ENST00000379255.1_Missense_Mutation_p.G185C|ACSL6_ENST00000296869.4_Missense_Mutation_p.G245C|ACSL6_ENST00000431707.1_Missense_Mutation_p.G200C	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	220					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G245F(4)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCTTGAGGCCTGGAGTCTCC	0.562000													156	245					2.37545e-86	5.26194e-86	0.048971	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103229014	103229014	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:103229014G>T	ENST00000375735.2	+	83	12227	c.12083G>T	c.(12082-12084)gGt>gTt	p.G4028V	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G4035V|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4028					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.G1468V(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATAACAGCTGGTTCCAAATTT	0.353000													9	8					6.40141e-05	7.11837e-05	0.080935	1	0
MDGA2	161357	broad.mit.edu	37	14	47530541	47530541	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:47530541G>T	ENST00000426342.1	-	7	1288	c.542C>A	c.(541-543)aCg>aAg	p.T181K	MDGA2_ENST00000439988.2_Missense_Mutation_p.T410K|MDGA2_ENST00000399232.2_Missense_Mutation_p.T479K|MDGA2_ENST00000357362.3_Missense_Mutation_p.T181K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	410	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.T181K(4)|p.T479K(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCAAAATCCGTGAATTTTAA	0.428000													68	90					7.59065e-32	1.45531e-31	0.048971	1	0
PARVG	64098	broad.mit.edu	37	22	44581730	44581730	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:44581730C>A	ENST00000422871.1	+	4	546	c.122C>A	c.(121-123)cCc>cAc	p.P41H	PARVG_ENST00000444313.2_Missense_Mutation_p.P41H|PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000415224.1_Missense_Mutation_p.P41H	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	41					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P41H(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CGGAAGGACCCCAAATTTGAA	0.612000													8	31					0.000157383	0.000171916	0.038147	1	0
HTR1A	3350	broad.mit.edu	37	5	63257347	63257347	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:63257347A>T	ENST00000323865.3	-	1	433	c.200T>A	c.(199-201)cTg>cAg	p.L67Q	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	67					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.L67Q(2)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CACGTTCTGCAGGGAGCGCTC	0.602000													20	31					0	0	0.055883	0	0
OR4D2	124538	broad.mit.edu	37	17	56247058	56247058	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:56247058C>A	ENST00000545221.1	+	1	42	c.42C>A	c.(40-42)ttC>ttA	p.F14L		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F14L(2)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACTTTGTCTTCCTGGGGCTCT	0.458000													22	154					1.87028e-06	2.18004e-06	0.062417	1	0
PILRB	29990	broad.mit.edu	37	7	99956501	99956501	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:99956501A>T	ENST00000310771.4	+	16	2749	c.253A>T	c.(253-255)Agg>Tgg	p.R85W	PILRB_ENST00000444073.1_Missense_Mutation_p.R85W|PILRB_ENST00000452089.1_Missense_Mutation_p.R85W|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000444874.1_Intron			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	85	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	p.R85W(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTACAGCACAAGGCCGCCTTC	0.547000													5	169					0	0	0.038147	0	0
GNRHR	2798	broad.mit.edu	37	4	68619638	68619638	+	Missense_Mutation	SNP	C	C	T	rs104893842		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:68619638C>T	ENST00000226413.4	-	1	440	c.416G>A	c.(415-417)cGc>cAc	p.R139H	RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.R139H|RP11-453E17.1_ENST00000502758.1_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	139			R -> H (in IHH; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro).		multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	p.R139H(2)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	AGCCAGGGAGCGGTCCAGGCT	0.512000													14	79					0	0	0.024245	0	0
CLEC1A	51267	broad.mit.edu	37	12	10226002	10226002	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:10226002G>T	ENST00000315330.4	-	5	614	c.552C>A	c.(550-552)gcC>gcA	p.A184A	CLEC1A_ENST00000457018.2_Silent_p.A151A|CLEC1A_ENST00000420265.2_Silent_p.A92A	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	184	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	p.A184A(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TCTGAGACGCGGCAAATTCCT	0.483000													16	90					0.0285812	0.0297587	0.028581	1	0
SPAG16	79582	broad.mit.edu	37	2	214162030	214162030	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:214162030G>T	ENST00000374309.3	+	2	65	c.65G>T	c.(64-66)tGg>tTg	p.W22L	SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000432529.2_Silent_p.L76L|SPAG16_ENST00000447990.1_Silent_p.L76L|SPAG16_ENST00000272898.7_Silent_p.L76L|SPAG16_ENST00000331683.5_Silent_p.L76L|SPAG16_ENST00000413312.1_Silent_p.L45L			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	0					cilium assembly	cilium axoneme|flagellar axoneme		p.L76L(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AAGAAGATCTGGCAAAAGCAA	0.373000													8	67					1.12685e-05	1.28651e-05	0.047766	1	0
EP400	57634	broad.mit.edu	37	12	132446343	132446343	+	Missense_Mutation	SNP	G	G	C	rs141437491		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:132446343G>C	ENST00000333577.4	+	2	1288	c.1179G>C	c.(1177-1179)ttG>ttC	p.L393F	EP400_ENST00000332482.4_Missense_Mutation_p.L393F|EP400_ENST00000389561.2_Missense_Mutation_p.L393F|EP400_ENST00000330386.6_Missense_Mutation_p.L393F|EP400_ENST00000389562.2_Missense_Mutation_p.L393F			Q96L91	EP400_HUMAN	E1A binding protein p400	393					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.L393F(2)		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)		TGTTTTTCTTGCAACACTTTC	0.413000													24	115					0	0	0.083992	0	0
PPM1H	57460	broad.mit.edu	37	12	63083523	63083523	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:63083523C>A	ENST00000228705.6	-	8	1501	c.1201G>T	c.(1201-1203)Gac>Tac	p.D401Y	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	401	PP2C-like.						phosphoprotein phosphatase activity	p.D401Y(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		ATGTTGGAGTCATGCACCTTC	0.458000													9	30					0.000978159	0.00103988	0.080935	1	0
RASA3	22821	broad.mit.edu	37	13	114778667	114778667	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:114778667G>T	ENST00000334062.7	-	15	1584	c.1463C>A	c.(1462-1464)gCg>gAg	p.A488E	RASA3_ENST00000389544.4_Missense_Mutation_p.A456E	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	488	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	p.A488E(2)|p.A488V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AATGGCGGGCGCAAAGAACCT	0.617000													13	15					4.7546e-09	5.99447e-09	0.028581	1	0
LOC440040	440040	broad.mit.edu	37	11	49597720	49597720	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:49597720C>A	ENST00000527477.1	+	0	324																											CGCAGGACATCGCTTGTTCGT	0.438000													11	19					2.80697e-09	3.57954e-09	0.080935	1	0
MUC17	140453	broad.mit.edu	37	7	100663463	100663463	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:100663463T>A	ENST00000306151.4	+	1	111	c.47T>A	c.(46-48)cTc>cAc	p.L16H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	16						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.L16H(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTTGGTCCTCTCGCTCTTG	0.652000													56	37					0	0	0.048971	0	0
OR5F1	338674	broad.mit.edu	37	11	55761855	55761855	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:55761855C>G	ENST00000278409.1	-	1	246	c.247G>C	c.(247-249)Gca>Cca	p.A83P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A83P(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AATAAATCTGCCAGCATCTTT	0.458000													9	98					0	0	0.069234	0	0
SPTA1	6708	broad.mit.edu	37	1	158617395	158617395	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158617395C>A	ENST00000368148.3	-	27	4010	c.3830G>T	c.(3829-3831)cGt>cTt	p.R1277L	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1277L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1277					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1277L(2)|p.R1277H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCTTTGTACGCCCCTGCAG	0.557000													34	176					1.45844e-13	2.13392e-13	0.054565	1	0
KCNA2	3737	broad.mit.edu	37	1	111146880	111146880	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:111146880G>T	ENST00000485317.1	-	3	1198	c.525C>A	c.(523-525)atC>atA	p.I175I	KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000369770.3_Silent_p.I175I|KCNA2_ENST00000440270.1_Silent_p.I175I|KCNA2_ENST00000316361.4_Silent_p.I175I			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	175						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.I175I(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TGACAATTGAGATCAGAATCA	0.463000													58	74					4.96213e-28	8.92863e-28	0.048971	1	0
KIF21B	23046	broad.mit.edu	37	1	200978567	200978567	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:200978567T>A	ENST00000332129.2	-	2	407	c.91A>T	c.(91-93)Acc>Tcc	p.T31S	KIF21B_ENST00000422435.2_Missense_Mutation_p.T31S|KIF21B_ENST00000360529.5_Missense_Mutation_p.T31S|KIF21B_ENST00000461742.2_Missense_Mutation_p.T31S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	31	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.T31S(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTAACAGAGGTACAGATGTGA	0.592000													50	115					0	0	0.048971	0	0
ANK3	288	broad.mit.edu	37	10	61894041	61894041	+	Silent	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:61894041T>A	ENST00000280772.1	-	25	3020	c.2829A>T	c.(2827-2829)ccA>ccT	p.P943P	ANK3_ENST00000373827.2_Silent_p.P937P|ANK3_ENST00000503366.1_Silent_p.P944P|ANK3_ENST00000355288.2_Silent_p.P77P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	943					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.P578P(2)|p.P77P(2)|p.P943P(2)		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						GCTCTTTGGATGGCACAAGGA	0.398000													18	35					0	0	0.043863	0	0
NRXN1	9378	broad.mit.edu	37	2	50765580	50765580	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:50765580G>T	ENST00000404971.1	-	11	3413	c.2074C>A	c.(2074-2076)Caa>Aaa	p.Q692K	NRXN1_ENST00000406316.2_Missense_Mutation_p.Q652K|NRXN1_ENST00000405472.3_Missense_Mutation_p.Q644K|NRXN1_ENST00000401669.2_Missense_Mutation_p.Q652K|NRXN1_ENST00000402717.3_Missense_Mutation_p.Q644K|NRXN1_ENST00000406859.3_Missense_Mutation_p.Q652K|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	652	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.Q693K(2)|p.Q652K(2)|p.Q692K(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTTGCTTTGGCCATCGATG	0.507000													128	261					1.31875e-47	2.73592e-47	0.048971	1	0
NPAP1	23742	broad.mit.edu	37	15	24922175	24922175	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:24922175G>T	ENST00000329468.2	+	1	1635	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.E387D(2)									ATAAAACAGAGACCATGACAA	0.527000													13	39					0.00010058	0.000110737	0.093190	1	0
LPHN3	23284	broad.mit.edu	37	4	62845321	62845321	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:62845321C>T	ENST00000512091.1	+	17	3389	c.2642C>T	c.(2641-2643)aCg>aTg	p.T881M	LPHN3_ENST00000506700.1_Missense_Mutation_p.T881M|LPHN3_ENST00000509896.1_Missense_Mutation_p.T949M|LPHN3_ENST00000545650.1_Missense_Mutation_p.T881M|LPHN3_ENST00000507164.1_Missense_Mutation_p.T949M|LPHN3_ENST00000508946.1_Missense_Mutation_p.T881M|LPHN3_ENST00000508693.1_Missense_Mutation_p.T949M|LPHN3_ENST00000514996.1_Missense_Mutation_p.T881M|LPHN3_ENST00000504896.1_Missense_Mutation_p.T881M|LPHN3_ENST00000514591.1_Missense_Mutation_p.T881M|LPHN3_ENST00000511324.1_Missense_Mutation_p.T949M|LPHN3_ENST00000506746.1_Missense_Mutation_p.T949M|LPHN3_ENST00000514157.1_Missense_Mutation_p.T881M|LPHN3_ENST00000506720.1_Missense_Mutation_p.T949M|LPHN3_ENST00000507625.1_Missense_Mutation_p.T949M			Q9HAR2	LPHN3_HUMAN	latrophilin 3	868					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.T881M(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATGTGATCACGTGGGTTGGA	0.448000													108	320					0	0	0.048971	0	0
MOCOS	55034	broad.mit.edu	37	18	33793329	33793329	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:33793329G>T	ENST00000261326.5	+	7	1240	c.1218_splice	c.e7-1	p.V407_splice		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	407					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	p.V407L(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AAATCCGCAGGTGGACAAAAT	0.463000													10	51					9.70103e-10	1.25145e-09	0.069234	1	0
LAMC3	10319	broad.mit.edu	37	9	133932444	133932444	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:133932444G>T	ENST00000361069.4	+	12	2201	c.2068G>T	c.(2068-2070)Gga>Tga	p.G690*	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	690	Laminin EGF-like 5; second part.				cell adhesion	basement membrane|membrane	structural molecule activity	p.G690*(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTGTGCTCCGGGATACAAGAG	0.617000													68	158					2.32817e-41	4.70714e-41	0.048971	1	0
GRID2	2895	broad.mit.edu	37	4	94693324	94693324	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:94693324T>C	ENST00000282020.4	+	16	2957	c.2699T>C	c.(2698-2700)aTt>aCt	p.I900T	GRID2_ENST00000510992.1_Missense_Mutation_p.I805T	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	900					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.I900T(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACCTCGTCAATTGATTTGACC	0.453000													59	108					0	0	0.048971	0	0
KDR	3791	broad.mit.edu	37	4	55979649	55979649	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:55979649C>A	ENST00000263923.4	-	7	1094		c.e7-1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.?(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TATGCTGATGCTGAAAAAAAG	0.373000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			22	63					1.87028e-06	2.18004e-06	0.062417	1	0
TLR4	7099	broad.mit.edu	37	9	120476354	120476354	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:120476354C>T	ENST00000355622.6	+	3	2049	c.1948C>T	c.(1948-1950)Ctg>Ttg	p.L650L	TLR4_ENST00000394487.4_Silent_p.L610L|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	650					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.L650L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGTAGCAGTTCTGGTCTATAA	0.428000													20	37					0	0	0.043863	0	0
TTN	7273	broad.mit.edu	37	2	179542347	179542347	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:179542347C>A	ENST00000589042.1	-	146	34516		c.e146+1		TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(2)		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)			AGCTGCTATACCTGGTGCAGG	0.418000													18	36					3.41278e-10	4.51787e-10	0.033300	1	0
EPPK1	83481	broad.mit.edu	37	8	144942384	144942384	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:144942384G>A	ENST00000525985.1	-	2	5109	c.5038C>T	c.(5038-5040)Ctg>Ttg	p.L1680L				P58107	EPIPL_HUMAN	epiplakin 1	1680						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.L1680L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTCCAGCAGGCGGATGCCG	0.687000													24	110					0	0	0.076483	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999276	112999276	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:112999276G>T	ENST00000271277.6	+	6	1387	c.1162G>T	c.(1162-1164)Gag>Tag	p.E388*		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	388						actin cytoskeleton	protein binding	p.E388*(2)|p.E388K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAACCAGTGGAGAATGGTGG	0.552000													116	182					3.69185e-53	7.86464e-53	0.048971	1	0
TTC14	151613	broad.mit.edu	37	3	180327803	180327803	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:180327803G>T	ENST00000296015.4	+	12	1918	c.1786G>T	c.(1786-1788)Gat>Tat	p.D596Y	TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	596							RNA binding	p.D596Y(2)|p.D596N(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TAGGTCTGAAGATCCAAGAGA	0.353000													62	363					2.81305e-35	5.48791e-35	0.048971	1	0
CTNNA3	29119	broad.mit.edu	37	10	67726505	67726505	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:67726505C>A	ENST00000433211.1	-	17	2440		c.e17-1		CTNNA3_ENST00000373744.4_Splice_Site|CTNNA3_ENST00000373735.1_Splice_Site	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.?(4)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GATCTGGGCACTAAATATGAA	0.363000													18	66					1.99824e-07	2.41002e-07	0.033300	1	0
EGFLAM	133584	broad.mit.edu	37	5	38418194	38418194	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:38418194G>C	ENST00000322350.5	+	12	1867	c.1521G>C	c.(1519-1521)cgG>cgC	p.R507R	EGFLAM_ENST00000354891.3_Silent_p.R507R|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Silent_p.R273R	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	507	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.R507L(4)		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)					TTACTTTCCGGACACCTCTCT	0.453000													40	148					0	0	0.104719	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813237	176813237	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:176813237C>A	ENST00000324417.5	+	4	366	c.275C>A	c.(274-276)cCc>cAc	p.P92H	SLC34A1_ENST00000512593.1_Missense_Mutation_p.P92H	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	92					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.P92H(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			AGGCTGGTCCCCAAGCTGCGC	0.662000													63	102					3.13296e-38	6.26593e-38	0.048971	1	0
GSN	2934	broad.mit.edu	37	9	124088797	124088797	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:124088797T>C	ENST00000373823.3	+	20	2329	c.1424T>C	c.(1423-1425)gTg>gCg	p.V475A	GSN_ENST00000449733.1_Missense_Mutation_p.V475A|GSN_ENST00000545652.1_Missense_Mutation_p.V483A|GSN_ENST00000373818.4_Missense_Mutation_p.V526A|GSN_ENST00000373807.1_Missense_Mutation_p.V257A|GSN_ENST00000394353.2_Missense_Mutation_p.V486A|GSN_ENST00000341272.2_Missense_Mutation_p.V475A|GSN_ENST00000373808.2_Missense_Mutation_p.V475A|GSN_ENST00000436847.1_Missense_Mutation_p.V486A|GSN_ENST00000412819.1_Missense_Mutation_p.V475A			P06396	GELS_HUMAN	gelsolin	526	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	p.V526A(2)|p.V475A(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CAGAGCCGTGTGGTCCAAGGC	0.637000													8	62					0	0	0.047766	0	0
OR10T2	128360	broad.mit.edu	37	1	158368914	158368914	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158368914G>T	ENST00000334438.1	-	1	342	c.343C>A	c.(343-345)Ctc>Atc	p.L115I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L115I(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ACAGCAATGAGGAGGCAGTTG	0.498000													16	139					0.000566183	0.000606547	0.033300	1	0
OLFM2	93145	broad.mit.edu	37	19	9967991	9967991	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:9967991C>T	ENST00000264833.4	-	4	713	c.528G>A	c.(526-528)caG>caA	p.Q176Q	OLFM2_ENST00000590841.1_Silent_p.Q98Q	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	176						extracellular region		p.Q176Q(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCACCCGTTGCTGCAGGTCCT	0.647000													37	100					0	0	0.092188	0	0
SLC12A8	84561	broad.mit.edu	37	3	124802813	124802813	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:124802813T>A	ENST00000423114.2	-	14	2152	c.2153A>T	c.(2152-2154)gAg>gTg	p.E718V	SLC12A8_ENST00000469902.1_Missense_Mutation_p.E689V|SLC12A8_ENST00000314584.7_Missense_Mutation_p.E350V|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000393469.4_Missense_Mutation_p.E689V|SLC12A8_ENST00000430155.2_Missense_Mutation_p.E490V			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	689					potassium ion transport	integral to membrane	symporter activity	p.E727V(2)|p.E689V(2)		endometrium(2)|kidney(2)|lung(12)	16						GTCTGCATTCTCCTGGGTGAG	0.587000													15	33					0	0	0.024245	0	0
ZNF621	285268	broad.mit.edu	37	3	40573808	40573808	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:40573808G>C	ENST00000339296.5	+	5	999	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	ZNF621_ENST00000403205.2_Missense_Mutation_p.E183Q|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.E72Q|ZNF621_ENST00000310898.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E183Q(2)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TAAGTGTAAGGAGTGTGGCAA	0.403000													35	64					0	0	0.064281	0	0
OR52N5	390075	broad.mit.edu	37	11	5799229	5799229	+	Silent	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:5799229A>T	ENST00000317093.2	-	1	668	c.636T>A	c.(634-636)gcT>gcA	p.A212A	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A212A(2)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CAATCAGGAGAGCAACCATTA	0.428000													13	125					0	0	0.093190	0	0
FGF10	2255	broad.mit.edu	37	5	44305247	44305247	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:44305247A>T	ENST00000264664.4	-	3	591	c.477T>A	c.(475-477)aaT>aaA	p.N159K		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	159					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	p.N159K(2)		haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TATTGTATCCATTTTCCTCTA	0.378000													56	146					0	0	0.048971	0	0
DHRS11	79154	broad.mit.edu	37	17	34951468	34951468	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:34951468C>T	ENST00000251312.5	+	2	427	c.215C>T	c.(214-216)tCa>tTa	p.S72L	DHRS11_ENST00000394445.1_3'UTR|DHRS11_ENST00000590554.1_5'UTR	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	72						extracellular region	binding|oxidoreductase activity	p.S72L(2)		endometrium(1)|lung(4)	5						TGTGACCTATCAAATGAAGAG	0.537000													21	128					0	0	0.055883	0	0
NFIC	4782	broad.mit.edu	37	19	3452610	3452610	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:3452610G>T	ENST00000589123.1	+	8	1308	c.1188G>T	c.(1186-1188)ccG>ccT	p.P396P	NFIC_ENST00000590282.1_Silent_p.P405P|NFIC_ENST00000346156.5_Silent_p.P372P|NFIC_ENST00000443272.2_Silent_p.P405P|NFIC_ENST00000586919.1_Silent_p.P372P|NFIC_ENST00000395111.3_Silent_p.P396P|NFIC_ENST00000341919.3_Silent_p.P405P	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	405					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P396P(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CCCAGGACCCGCTCAAAGATC	0.652000													34	206					1.30091e-30	2.4436e-30	0.092188	1	0
IFNL3	282617	broad.mit.edu	37	19	39734774	39734774	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:39734774C>G	ENST00000413851.2	-	3	320	c.282G>C	c.(280-282)ttG>ttC	p.L94F		NM_172139.2	NP_742151.2			interferon, lambda 3									p.L94F(2)									GCTCAGCCTCCAAAGCCACGG	0.637000													16	49					0	0	0.024245	0	0
GCN1L1	10985	broad.mit.edu	37	12	120614022	120614022	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:120614022T>A	ENST00000300648.6	-	10	851		c.e10-2			NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)						regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.?(2)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGAAATAGCTAAGGGGGACA	0.502000													44	79					0	0	0.042209	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													8	64					0	0	0.038147	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650791	121650791	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:121650791C>G	ENST00000393386.2	+	12	2102	c.1691C>G	c.(1690-1692)tCt>tGt	p.S564C	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S564C	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	564					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.S564C(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATACAGTTTCTATAACAGAA	0.423000													59	36					0	0	0.048971	0	0
GRM5	2915	broad.mit.edu	37	11	88337916	88337916	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:88337916A>G	ENST00000418177.2	-	5	1731	c.1364T>C	c.(1363-1365)cTa>cCa	p.L455P	GRM5_ENST00000305432.5_Missense_Mutation_p.L455P|GRM5_ENST00000393297.1_Missense_Mutation_p.L455P|GRM5_ENST00000455756.2_Missense_Mutation_p.L455P|GRM5_ENST00000305447.4_Missense_Mutation_p.L455P			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	455					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.L455P(4)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTCATCGAATAGGATCGTATC	0.433000													33	51					0	0	0.050027	0	0
FAT2	2196	broad.mit.edu	37	5	150923125	150923125	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:150923125G>A	ENST00000261800.5	-	9	7575	c.7563C>T	c.(7561-7563)atC>atT	p.I2521I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2521	Cadherin 22.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.I2521I(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTAGTTTATTGATGATAGTAT	0.413000													48	172					0	0	0.048971	0	0
GATA4	2626	broad.mit.edu	37	8	11607724	11607724	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:11607724C>G	ENST00000335135.4	+	4	1446	c.888C>G	c.(886-888)ggC>ggG	p.G296G	GATA4_ENST00000528712.1_Silent_p.G90G|GATA4_ENST00000532059.1_Silent_p.G297G	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	296			G -> S (in ASD2).		atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.G296G(2)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		ATGCCTGCGGCCTCTACATGA	0.637000													34	58					0	0	0.064281	0	0
AKR1C3	8644	broad.mit.edu	37	10	5141584	5141584	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:5141584G>T	ENST00000380554.3	+	5	1165	c.513G>T	c.(511-513)agG>agT	p.R171S	AKR1C3_ENST00000605149.1_Missense_Mutation_p.R148S|AKR1C3_ENST00000439082.2_Missense_Mutation_p.R52S	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	171					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.R171S(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TCAACCGCAGGCAGCTGGAGA	0.527000													29	74					7.38237e-10	9.56782e-10	0.030593	1	0
CSMD1	64478	broad.mit.edu	37	8	2876097	2876097	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:2876097G>C	ENST00000602557.1	-	53	8489	c.7934C>G	c.(7933-7935)gCt>gGt	p.A2645G	CSMD1_ENST00000537824.1_Missense_Mutation_p.A2644G|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000520002.1_Missense_Mutation_p.A2645G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2645	Sushi 17.					integral to membrane		p.A2644G(2)|p.A2373G(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGTAAATATAGCTGTGGCCCC	0.483000													42	239					0	0	0.048971	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432903	104432903	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:104432903G>T	ENST00000361820.3	-	3	2391	c.1791C>A	c.(1789-1791)ctC>ctA	p.L597L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	597					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.L597L(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTACAATATAGAGGTCGAAGT	0.453000													14	85					9.05144e-12	1.26766e-11	0.105934	1	0
SCN3A	6328	broad.mit.edu	37	2	165984466	165984466	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:165984466C>A	ENST00000360093.3	-	18	3559	c.3068G>T	c.(3067-3069)cGg>cTg	p.R1023L	SCN3A_ENST00000283254.7_Missense_Mutation_p.R1023L|SCN3A_ENST00000409101.3_Missense_Mutation_p.R974L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1023						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1023L(2)|p.R974L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GAAACACTCCCGCATCTTATT	0.358000													29	79					1.32181e-22	2.23382e-22	0.034045	1	0
DIAPH3	81624	broad.mit.edu	37	13	60490351	60490351	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:60490351C>A	ENST00000400324.4	-	19	2423	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*	DIAPH3_ENST00000267215.4_Nonsense_Mutation_p.E735*|DIAPH3_ENST00000400330.1_Nonsense_Mutation_p.E735*|DIAPH3_ENST00000400320.1_Nonsense_Mutation_p.E689*|DIAPH3_ENST00000400319.1_Nonsense_Mutation_p.E665*|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Nonsense_Mutation_p.E724*	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	735	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.E735*(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTGATTTCCTCATATGGCACC	0.348000													25	70					4.26978e-12	6.05611e-12	0.083992	1	0
USP16	10600	broad.mit.edu	37	21	30415863	30415863	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr21:30415863T>C	ENST00000334352.4	+	14	1530	c.1299T>C	c.(1297-1299)tcT>tcC	p.S433S	USP16_ENST00000535828.1_Silent_p.S62S|USP16_ENST00000399976.2_Silent_p.S433S|USP16_ENST00000399975.3_Silent_p.S432S	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	433					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.S433S(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						ATATTCCTTCTGGAACAAGTA	0.333000													11	46					0	0	0.080935	0	0
LAMA2	3908	broad.mit.edu	37	6	129674483	129674483	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:129674483C>T	ENST00000421865.2	+	32	4747	c.4698C>T	c.(4696-4698)cgC>cgT	p.R1566R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1566	Laminin EGF-like 17.				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	p.R1566R(2)		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)		GGCATGCACGCGAGGGCTGGG	0.537000													24	64					0	0	0.099896	0	0
OLFM2	93145	broad.mit.edu	37	19	9968420	9968420	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:9968420C>T	ENST00000264833.4	-	3	516	c.331G>A	c.(331-333)Gat>Aat	p.D111N	OLFM2_ENST00000590841.1_Missense_Mutation_p.D33N	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	111						extracellular region		p.D111N(3)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						AGGGACCCATCAGCTGCCCGG	0.577000													36	61					0	0	0.064281	0	0
COL22A1	169044	broad.mit.edu	37	8	139688869	139688869	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:139688869C>T	ENST00000303045.6	-	41	3528	c.3082G>A	c.(3082-3084)Gga>Aga	p.G1028R	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1008R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1028	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G1028R(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGAGCTCCTCGATCCCCC	0.507000										HNSCC(7;0.00092)			4	3					0	0	0.009096	0	0
MPEG1	219972	broad.mit.edu	37	11	58979381	58979381	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:58979381G>T	ENST00000361050.3	-	1	1043	c.958C>A	c.(958-960)Cct>Act	p.P320T		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	320	MACPF.					integral to membrane		p.P320T(2)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGCAAGTCAGGTAGCATGTTG	0.557000													46	76					6.08268e-21	1.00654e-20	0.048971	1	0
ZNF845	91664	broad.mit.edu	37	19	53854476	53854476	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:53854476G>C	ENST00000458035.1	+	4	665	c.548G>C	c.(547-549)aGg>aCg	p.R183T	ZNF845_ENST00000595091.1_Missense_Mutation_p.R183T	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R183T(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATTTCTTGTAGGCCTAAAACC	0.373000													33	73					0	0	0.045705	0	0
CRB1	23418	broad.mit.edu	37	1	197396952	197396952	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:197396952G>T	ENST00000367397.1	+	3	1498	c.640G>T	c.(640-642)Ggt>Tgt	p.G214C	CRB1_ENST00000367399.2_Missense_Mutation_p.G721C|CRB1_ENST00000535699.1_Missense_Mutation_p.G764C|CRB1_ENST00000367400.3_Missense_Mutation_p.G833C|CRB1_ENST00000544212.1_Missense_Mutation_p.G314C|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	833	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.G833C(2)		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						CATCTACATTGGTGGCCTACC	0.378000													27	40					2.50493e-22	4.20768e-22	0.099896	1	0
NF1	4763	broad.mit.edu	37	17	29657518	29657518	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:29657518T>A	ENST00000358273.4	+	39	6195		c.e39+2		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(7)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCAAATCTAGTAAGTAATGAT	0.323000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			41	37					0	0	0.092188	0	0
LOC100420587	100420587	broad.mit.edu	37	19	29215153	29215153	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:29215153C>A	ENST00000592347.1	-	0	388																											GACTGTCCGCCATCCAGATGG	0.443000													4	35					0.0215528	0.0224828	0.021553	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058156	152058156	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:152058156G>A	ENST00000368806.1	-	3	2066	c.2002C>T	c.(2002-2004)Ctg>Ttg	p.L668L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	668							calcium ion binding	p.L668L(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCTATTTCCAGGGACTTTCTA	0.507000													53	293					0	0	0.048971	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282950	52282950	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:52282950G>T	ENST00000301190.6	+	3	723	c.496G>T	c.(496-498)Gac>Tac	p.D166Y	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000340970.4_Missense_Mutation_p.D31Y	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	31								p.D166Y(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CAAAGGAGGGGACACGGCCCT	0.612000													13	127					0.000219431	0.000237824	0.020292	1	0
CCDC19	25790	broad.mit.edu	37	1	159857673	159857673	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:159857673C>A	ENST00000426543.2	-	5	746	c.291G>T	c.(289-291)aaG>aaT	p.K97N	CCDC19_ENST00000368099.4_Missense_Mutation_p.K182N|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	182						mitochondrion|soluble fraction		p.K182N(2)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CCATCCGCAGCTTGTTGGCTC	0.582000													56	351					2.12129e-23	3.64023e-23	0.048971	1	0
FAM98A	25940	broad.mit.edu	37	2	33810265	33810265	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:33810265G>A	ENST00000238823.8	-	8	1275	c.1135C>T	c.(1135-1137)Cat>Tat	p.H379Y	FAM98A_ENST00000441530.2_Missense_Mutation_p.H184Y|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	380	Gly-rich.							p.H379Y(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCTCCTTGATGCTTATTTCCT	0.567000													67	125					0	0	0.048971	0	0
CCNJL	79616	broad.mit.edu	37	5	159680488	159680488	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:159680488T>C	ENST00000393977.3	-	7	1490	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.H354R	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	402						nucleus		p.H402R(2)		endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATGGCCATATGCATGCTAAG	0.607000													99	88					0	0	0.048971	0	0
ENG	2022	broad.mit.edu	37	9	130588868	130588868	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:130588868C>A	ENST00000344849.3	-	4	724	c.444G>T	c.(442-444)gaG>gaT	p.E148D	ENG_ENST00000373203.4_Missense_Mutation_p.E148D			P17813	EGLN_HUMAN	endoglin	148					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	p.E148D(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CAGCTGCCCACTCAAGGATCT	0.612000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				15	98					1.45105e-14	2.15143e-14	0.038395	1	0
CHIT1	1118	broad.mit.edu	37	1	203192633	203192633	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:203192633G>T	ENST00000367229.1	-	5	504	c.470C>A	c.(469-471)aCc>aAc	p.T157N	CHIT1_ENST00000535569.1_Missense_Mutation_p.T148N|CHIT1_ENST00000255427.3_Missense_Mutation_p.T138N|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	157					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	p.T157N(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTGTACCAGGGTTGTGAAGCG	0.627000													18	93					9.86323e-18	1.54044e-17	0.091800	1	0
FLG2	388698	broad.mit.edu	37	1	152323916	152323916	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:152323916C>A	ENST00000388718.5	-	3	6418	c.6346G>T	c.(6346-6348)Ggg>Tgg	p.G2116W	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2116							calcium ion binding|structural molecule activity	p.G2116W(2)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGAGACCCCTGAGTGCACT	0.532000													123	664					1.62317e-47	3.35495e-47	0.048971	1	0
FHL2	2274	broad.mit.edu	37	2	106015303	106015303	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:106015303C>T	ENST00000344213.4	-	1	378	c.251G>A	c.(250-252)aGa>aAa	p.R84K	FHL2_ENST00000409177.1_Intron|FHL2_ENST00000358129.4_5'UTR|FHL2_ENST00000322142.8_Intron|FHL2_ENST00000393352.3_Intron|FHL2_ENST00000408995.1_Intron|FHL2_ENST00000336660.5_Intron|FHL2_ENST00000393353.3_5'UTR|FHL2_ENST00000607522.1_Intron			Q14192	FHL2_HUMAN	four and a half LIM domains 2	0	LIM zinc-binding 1.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						TCTCACCAGTCTCCCCAACTC	0.677000													6	15					0	0	0.029380	0	0
ADAM7	8756	broad.mit.edu	37	8	24350690	24350690	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:24350690A>T	ENST00000175238.6	+	16	1873	c.1790A>T	c.(1789-1791)gAt>gTt	p.D597V	ADAM7_ENST00000520720.1_Missense_Mutation_p.D369V|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.D597V|RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	597	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.D597V(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTATACCATGATTCTACAGAC	0.403000													24	49					0	0	0.083992	0	0
NF1	4763	broad.mit.edu	37	17	29667614	29667614	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:29667614T>A	ENST00000358273.4	+	47	7396	c.7013T>A	c.(7012-7014)cTt>cAt	p.L2338H	NF1_ENST00000417592.2_Missense_Mutation_p.L51H|NF1_ENST00000356175.3_Missense_Mutation_p.L2317H|NF1_ENST00000444181.2_Missense_Mutation_p.L131H	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2338					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.L2338H(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCGCACTTCTTGAACAAAAC	0.443000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			8	84					0	0	0.038147	0	0
ARSF	416	broad.mit.edu	37	X	2990067	2990067	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:2990067G>T	ENST00000381127.1	+	3	233	c.11_splice	c.e3-1	p.R4_splice	ARSF_ENST00000359361.2_Splice_Site_p.R4_splice|ARSF_ENST00000537104.1_Splice_Site_p.R4_splice	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	4						extracellular region	arylsulfatase activity|metal ion binding	p.R4S(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCTTTCCAGGAGACCCTTGG	0.493000													21	41					7.45023e-12	1.04604e-11	0.055883	1	0
ANKRD24	170961	broad.mit.edu	37	19	4219712	4219712	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:4219712G>T	ENST00000600132.1	+	19	3404	c.3128G>T	c.(3127-3129)cGg>cTg	p.R1043L	ANKRD24_ENST00000262970.5_Missense_Mutation_p.R1133L|ANKRD24_ENST00000318934.4_Missense_Mutation_p.R1043L	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1043								p.R1133L(2)|p.R608L(2)|p.R1043L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GCCCAGAGCCGGGCCCAGGAG	0.657000													31	51					3.69857e-22	6.19398e-22	0.037714	1	0
PCDH17	27253	broad.mit.edu	37	13	58207470	58207470	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:58207470G>T	ENST00000377918.3	+	1	816	c.790G>T	c.(790-792)Gat>Tat	p.D264Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	264	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.D264Y(2)		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)		AGTGGTCATCGATCTGAACGC	0.587000													52	128					6.81593e-30	1.2717e-29	0.048971	1	0
INPP5D	3635	broad.mit.edu	37	2	234112954	234112954	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:234112954C>T	ENST00000359570.5	+	28	3122	c.3122C>T	c.(3121-3123)cCc>cTc	p.1041_1041insL	INPP5D_ENST00000450745.1_Missense_Mutation_p.805_805insL|INPP5D_ENST00000455936.2_Missense_Mutation_p.805_805insL			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	p.P1053L(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGCCCGGAACCCGGCATCTTG	0.682000													7	60					0	0	0.047766	0	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078030	90078030	+	RNA	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:90078030G>T	ENST00000390270.2	+	0	164																											CGGAGAAATTGTGTTGACGCA	0.488000													48	92					1.07234e-20	1.75877e-20	0.048971	1	0
TG	7038	broad.mit.edu	37	8	134042065	134042065	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:134042065G>T	ENST00000220616.4	+	41	7076		c.e41-1		TG_ENST00000542445.1_Splice_Site|TG_ENST00000519543.1_Splice_Site|TG_ENST00000377869.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.?(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTTTCTGAAGGGTCCGGAGA	0.572000													19	47					3.62473e-10	4.78706e-10	0.062417	1	0
HSPA6	3310	broad.mit.edu	37	1	161496061	161496061	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:161496061T>A	ENST00000309758.4	+	1	2026	c.1613T>A	c.(1612-1614)gTg>gAg	p.V538E		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	538					response to unfolded protein		ATP binding	p.V538E(2)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGGGACAGAGTGGCTGCCAAA	0.547000													9	30					0	0	0.069234	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126597	37126597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:37126597G>T	ENST00000336755.5	+	2	374	c.268G>T	c.(268-270)Gag>Tag	p.E90*	ZCCHC7_ENST00000322831.6_Nonsense_Mutation_p.E89*|ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	90							nucleic acid binding|zinc ion binding	p.E90*(2)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		AGATGGGTCAGAGGTCATCAC	0.398000													30	229					3.90053e-15	5.89319e-15	0.050027	1	0
PHLDA3	23612	broad.mit.edu	37	1	201437745	201437745	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:201437745C>T	ENST00000367311.3	-	1	567	c.170G>A	c.(169-171)cGc>cAc	p.R57H	PHLDA3_ENST00000367309.1_Missense_Mutation_p.R57H	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	57	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding			lung(1)|prostate(1)	2						GGCCTTGATGCGGGCGAAGCT	0.687000													4	132					0	0	0.009096	0	0
ZNF208	7757	broad.mit.edu	37	19	22155180	22155180	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:22155180C>T	ENST00000397126.4	-	4	2804	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.E786K(4)|p.E886K(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGGGTTTCTCTCCAGTATGA	0.378000													38	66					0	0	0.069456	0	0
SCN5A	6331	broad.mit.edu	37	3	38622447	38622447	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:38622447C>A	ENST00000413689.1	-	17	3396	c.3203G>T	c.(3202-3204)gGc>gTc	p.G1068V	SCN5A_ENST00000443581.1_Missense_Mutation_p.G1068V|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1068V|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000414099.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1068V|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000455624.2_Missense_Mutation_p.G1068V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1068					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.G1068V(4)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCCTCCGTGCCCAGGCTGTT	0.632000													10	35					3.86212e-05	4.31192e-05	0.069234	1	0
KHNYN	23351	broad.mit.edu	37	14	24901180	24901180	+	Missense_Mutation	SNP	G	G	T	rs142344659		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:24901180G>T	ENST00000251343.5	+	3	852	c.713G>T	c.(712-714)gGa>gTa	p.G238V	KHNYN_ENST00000556842.1_Missense_Mutation_p.G238V|KHNYN_ENST00000553935.1_Missense_Mutation_p.G238V			O15037	KHNYN_HUMAN	KH and NYN domain containing	238								p.G238V(2)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTGGACACTGGATCTATGGGA	0.627000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	123					2.5401e-28	4.6003e-28	0.048971	1	0
ANKRD36C	400986	broad.mit.edu	37	2	96579878	96579878	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:96579878C>T	ENST00000456556.1	-	40	2613	c.2529G>A	c.(2527-2529)gaG>gaA	p.E843E	ANKRD36C_ENST00000420871.2_5'UTR|ANKRD36C_ENST00000295246.5_5'UTR|ANKRD36C_ENST00000419039.2_5'UTR					ankyrin repeat domain 36C									p.E843E(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTTCTCCATCCTCTTTTCCTC	0.343000													6	3					0	0	0.029380	0	0
THSD7A	221981	broad.mit.edu	37	7	11486977	11486977	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:11486977C>A	ENST00000423059.3	-	12	2931	c.2680G>T	c.(2680-2682)Gcc>Tcc	p.A894S	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	894						integral to membrane		p.A894S(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGGGTAAGGGCTGGCACAGGG	0.507000										HNSCC(18;0.044)			18	60					1.99824e-07	2.41002e-07	0.033300	1	0
NAALAD2	10003	broad.mit.edu	37	11	89896515	89896515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:89896515G>T	ENST00000534061.1	+	10	1343	c.1113G>T	c.(1111-1113)tgG>tgT	p.W371C	NAALAD2_ENST00000525171.1_Missense_Mutation_p.W278C|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.W338C	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	371	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.W371C(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGGACTCCTGGGTATTTGGAG	0.383000													42	258					9.85913e-13	1.4128e-12	0.111260	1	0
OR13C3	138803	broad.mit.edu	37	9	107298376	107298376	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:107298376G>C	ENST00000374781.2	-	1	761	c.719C>G	c.(718-720)cCa>cGa	p.P240R		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P240R(2)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GACCATCAGTGGAAGAACCAG	0.428000													17	102					0	0	0.033300	0	0
MAP2	4133	broad.mit.edu	37	2	210574656	210574656	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:210574656G>T	ENST00000360351.4	+	12	5257	c.4751G>T	c.(4750-4752)aGa>aTa	p.R1584I	MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000361559.4_Missense_Mutation_p.R228I|MAP2_ENST00000392194.1_Missense_Mutation_p.R228I|MAP2_ENST00000447185.1_Missense_Mutation_p.R1580I|MAP2_ENST00000199940.6_Missense_Mutation_p.R285I	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1584					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.R285I(2)|p.R1584I(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CCAATTCGCAGAGCAGGGAAG	0.498000													40	98					7.62715e-32	1.45728e-31	0.098360	1	0
SPG11	80208	broad.mit.edu	37	15	44914493	44914493	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:44914493A>G	ENST00000261866.7	-	13	2385	c.2369T>C	c.(2368-2370)aTa>aCa	p.I790T	SPG11_ENST00000427534.2_Missense_Mutation_p.I790T|SPG11_ENST00000558319.1_Missense_Mutation_p.I790T|SPG11_ENST00000535302.2_Missense_Mutation_p.I790T	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	790					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CACGAAGTCTATAGTTCTTTT	0.299000													3	48					0	0	0.004672	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698533	111698533	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:111698533C>A	ENST00000340433.2	+	1	807	c.577C>A	c.(577-579)Cag>Aag	p.Q193K		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	193							nucleic acid binding|zinc ion binding	p.Q193K(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGATCCCAACCAGGATGAAGA	0.473000													91	97					4.78148e-37	9.49466e-37	0.048971	1	0
LTF	4057	broad.mit.edu	37	3	46496816	46496816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:46496816C>A	ENST00000231751.4	-	5	911	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	LTF_ENST00000426532.2_Nonsense_Mutation_p.E162*|LTF_ENST00000417439.1_Nonsense_Mutation_p.E206*	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	206	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.Q205_E206>H*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AAGTACGGTTCCTGGGAGGAG	0.582000													15	88					3.27435e-08	4.04564e-08	0.020292	1	0
PLXNA4	91584	broad.mit.edu	37	7	131830026	131830026	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:131830026C>A	ENST00000359827.3	-	29	6039	c.5077G>T	c.(5077-5079)Gat>Tat	p.D1693Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1693Y			Q9HCM2	PLXA4_HUMAN	plexin A4	1693						integral to membrane|intracellular|plasma membrane		p.D1693Y(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAGAGGTCATCCACAAACTTC	0.537000													26	24					4.59853e-10	6.01596e-10	0.108266	1	0
NMD3	51068	broad.mit.edu	37	3	160945076	160945076	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:160945076A>T	ENST00000460469.1	+	3	676	c.221A>T	c.(220-222)gAa>gTa	p.E74V	NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000351193.2_Missense_Mutation_p.E74V|NMD3_ENST00000472947.1_Missense_Mutation_p.E74V			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	74					protein transport	cytoplasm|nucleolus|nucleoplasm		p.E74V(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TGTGCTTTAGAATCCAGGGAA	0.358000													10	80					0	0	0.093190	0	0
ABHD16A	7920	broad.mit.edu	37	6	31671050	31671050	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:31671050C>A	ENST00000395952.3	-	1	171	c.9G>T	c.(7-9)aaG>aaT	p.K3N	XXbac-BPG32J3.20_ENST00000461287.1_Intron|ABHD16A_ENST00000538874.1_5'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	3						integral to membrane	hydrolase activity|protein binding	p.K3N(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						AGCTCAGCAGCTTCGCCATGG	0.682000													16	30					1.5739e-10	2.12916e-10	0.028581	1	0
MDM1	56890	broad.mit.edu	37	12	68708818	68708818	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:68708818C>A	ENST00000303145.7	-	9	1495	c.1409G>T	c.(1408-1410)gGg>gTg	p.G470V	MDM1_ENST00000411698.2_Missense_Mutation_p.G435V|MDM1_ENST00000540418.1_Missense_Mutation_p.G190V	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	470						nucleus		p.G470L(2)|p.G470V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTTCCTGTCCCCTTCCTCTTC	0.498000													46	332					2.13384e-23	3.65051e-23	0.048971	1	0
IGSF11	152404	broad.mit.edu	37	3	118624531	118624531	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:118624531G>T	ENST00000354673.2	-	7	992	c.612C>A	c.(610-612)atC>atA	p.I204I	IGSF11_ENST00000489689.1_Silent_p.I205I|IGSF11_ENST00000441144.2_Silent_p.I204I|IGSF11_ENST00000491903.1_Silent_p.I205I|IGSF11_ENST00000393775.2_Silent_p.I205I|IGSF11_ENST00000425327.2_Silent_p.I204I	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	205	Ig-like C2-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	p.I204I(2)|p.I205I(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACAGGGCACTGATGTTCCGGA	0.473000													13	87					1.61879e-10	2.17403e-10	0.093190	1	0
MYH6	4624	broad.mit.edu	37	14	23871768	23871768	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:23871768C>A	ENST00000405093.3	-	12	1116	c.1046G>T	c.(1045-1047)gGc>gTc	p.G349V	MYH6_ENST00000356287.3_Missense_Mutation_p.G349V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	349	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.G349V(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTGTAGACGCCAGCTTTCTC	0.612000													70	331					1.34568e-36	2.65318e-36	0.048971	1	0
OR6S1	341799	broad.mit.edu	37	14	21109284	21109284	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:21109284G>T	ENST00000320704.3	-	1	566	c.567C>A	c.(565-567)cgC>cgA	p.R189R		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R189R(2)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGCAAGCCAGGCGGAGCAGTG	0.572000													62	80					1.19403e-26	2.11428e-26	0.048971	1	0
GDF2	2658	broad.mit.edu	37	10	48413769	48413769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:48413769C>A	ENST00000249598.1	-	2	1258	c.1099G>T	c.(1099-1101)Gat>Tat	p.D367Y		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	367					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.D367Y(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGCGTCACATCGTCAGCCAAG	0.577000													19	91					4.35082e-09	5.51037e-09	0.055883	1	0
KIAA2018	205717	broad.mit.edu	37	3	113388977	113388977	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:113388977G>A	ENST00000316407.4	-	5	560	c.150C>T	c.(148-150)gcC>gcT	p.A50A	KIAA2018_ENST00000478658.1_Silent_p.A50A|KIAA2018_ENST00000491165.1_Silent_p.A50A	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	50	Helix-loop-helix motif.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.A50A(2)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CCTGCTTCAGGGCAGGAGAAC	0.368000													11	104					0	0	0.080935	0	0
PTPRC	5788	broad.mit.edu	37	1	198703339	198703339	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:198703339C>G	ENST00000367376.2	+	21	2322	c.2151C>G	c.(2149-2151)ccC>ccG	p.P717P	PTPRC_ENST00000352140.3_Silent_p.P669P|PTPRC_ENST00000442510.2_Silent_p.P719P|PTPRC_ENST00000348564.6_Silent_p.P558P|PTPRC_ENST00000594404.1_Silent_p.P556P	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	717	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.P717P(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCAAAGAACCCAGGAAATACA	0.294000													53	84					0	0	0.048971	0	0
RYR2	6262	broad.mit.edu	37	1	237540714	237540714	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:237540714C>G	ENST00000366574.2	+	8	872	c.555C>G	c.(553-555)agC>agG	p.S185R	RYR2_ENST00000542537.1_Missense_Mutation_p.S169R|RYR2_ENST00000360064.6_Missense_Mutation_p.S183R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	185	MIR 2.				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	p.S183R(2)		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)			TCTTAGTTAGCGTGTCCTCTG	0.423000													21	46					0	0	0.062417	0	0
BCHE	590	broad.mit.edu	37	3	165548021	165548021	+	Silent	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:165548021A>T	ENST00000264381.3	-	2	967	c.801T>A	c.(799-801)gcT>gcA	p.A267A	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	267					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.A267A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTCTGTTCCTAGCTTCATAAA	0.403000													33	101					0	0	0.050027	0	0
NUP205	23165	broad.mit.edu	37	7	135304240	135304240	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:135304240C>T	ENST00000285968.6	+	29	4059	c.4033C>T	c.(4033-4035)Cac>Tac	p.H1345Y		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1345					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.H1345Y(2)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ACTGACTGCTCACCTAAGCCA	0.502000													19	101					0	0	0.043863	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31104473	31104473	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:31104473C>A	ENST00000304166.4	+	3	367	c.78C>A	c.(76-78)atC>atA	p.I26I	ADCYAP1R1_ENST00000409363.1_Silent_p.I26I|ADCYAP1R1_ENST00000396211.2_Silent_p.I26I|ADCYAP1R1_ENST00000409489.1_Silent_p.I26I	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	26					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.I26I(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CTGACTGCATCTTCAAGAAGG	0.582000													10	94					2.17888e-05	2.47236e-05	0.058154	1	0
USH1C	10083	broad.mit.edu	37	11	17554815	17554815	+	Silent	SNP	G	G	T	rs121908370		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:17554815G>T	ENST00000005226.7	-	2	90	c.91C>A	c.(91-93)Cga>Aga	p.R31R	USH1C_ENST00000527020.1_Silent_p.R31R|USH1C_ENST00000318024.4_Silent_p.R31R|USH1C_ENST00000527720.1_5'UTR	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	31					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.R31R(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TGGTACATTCGCAGCACATCA	0.507000													18	105					2.94398e-08	3.65369e-08	0.043863	1	0
LIMA1	51474	broad.mit.edu	37	12	50586249	50586249	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:50586249G>T	ENST00000547825.1	-	3	1489	c.220C>A	c.(220-222)Ccc>Acc	p.P74T	LIMA1_ENST00000552491.1_Missense_Mutation_p.P74T|LIMA1_ENST00000552783.1_Missense_Mutation_p.P217T|LIMA1_ENST00000552823.1_Missense_Mutation_p.P216T|LIMA1_ENST00000552909.1_Missense_Mutation_p.P216T|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.P377T|LIMA1_ENST00000341247.4_Missense_Mutation_p.P376T	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	376					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.P376I(2)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ATTGCTTTGGGAGGAGAACTT	0.448000													32	95					9.17885e-22	1.52342e-21	0.059317	1	0
LAMC1	3915	broad.mit.edu	37	1	183091312	183091312	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:183091312C>A	ENST00000258341.4	+	13	2584	c.2327C>A	c.(2326-2328)cCt>cAt	p.P776H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	776	Laminin EGF-like 7.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.P776H(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTCCGTGTCCTGGAGGTTCA	0.537000													27	151					1.42536e-11	1.97139e-11	0.099896	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072820	17072820	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:17072820C>G	ENST00000359963.3	-	1	880	c.621G>C	c.(619-621)gcG>gcC	p.A207A		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	207					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.A207A(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCCCGGGCAGCGCGCACACCC	0.617000													20	116					0	0	0.062417	0	0
NBEA	26960	broad.mit.edu	37	13	35770394	35770394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:35770394G>T	ENST00000540320.1	+	31	5855	c.5321G>T	c.(5320-5322)aGa>aTa	p.R1774I	NBEA_ENST00000400445.3_Missense_Mutation_p.R1774I|NBEA_ENST00000379939.2_Missense_Mutation_p.R1771I|NBEA_ENST00000310336.4_Missense_Mutation_p.R1774I			Q8NFP9	NBEA_HUMAN	neurobeachin	1774						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.R1774I(2)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCATTGAAGAGAGAAACACAA	0.393000													18	47					1.67942e-08	2.08894e-08	0.038395	1	0
GATAD2A	54815	broad.mit.edu	37	19	19609385	19609385	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:19609385G>A	ENST00000404158.1	+	10	1476	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	GATAD2A_ENST00000252577.5_Missense_Mutation_p.R353H|GATAD2A_ENST00000429563.2_Missense_Mutation_p.R180H|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000360315.3_Missense_Mutation_p.R353H|GATAD2A_ENST00000358713.3_Missense_Mutation_p.R353H			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	353					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CTGGCGCTGCGCAAACAGCTG	0.642000													3	34					0	0	0.014758	0	0
LAMA2	3908	broad.mit.edu	37	6	129635942	129635942	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:129635942G>T	ENST00000421865.2	+	24	3603	c.3555_splice	c.e24+1	p.W1185_splice		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1185	Laminin IV type A 2.				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	p.W1185F(2)		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)		ATCCGGACGTGGGTGAGTAGG	0.483000													25	81					9.39395e-14	1.38176e-13	0.030593	1	0
PRR23A	729627	broad.mit.edu	37	3	138724401	138724401	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:138724401G>T	ENST00000383163.2	-	1	709	c.710C>A	c.(709-711)tCt>tAt	p.S237Y		NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	237	Pro-rich.							p.S237Y(1)		endometrium(3)|kidney(1)|lung(7)	11						CACGCGCGGAGAGGGAGGTAG	0.652000													5	16					0.000602214	0.00064267	0.014758	1	0
TSGA10IP	254187	broad.mit.edu	37	11	65715521	65715521	+	RNA	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:65715521C>T	ENST00000532620.1	+	0	1284							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.S321S(1)		endometrium(2)|kidney(3)|lung(9)	14						TCCAGGCCTCCAAGCGGAATG	0.597000													4	9					0	0	0.009096	0	0
VILL	50853	broad.mit.edu	37	3	38040837	38040837	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:38040837G>T	ENST00000283713.6	+	11	1355	c.1089G>T	c.(1087-1089)tcG>tcT	p.S363S	VILL_ENST00000383759.2_Silent_p.S363S|VILL_ENST00000465644.1_Silent_p.S81S			O15195	VILL_HUMAN	villin-like	363					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	p.S363S(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CAGATAAATCGATTCATGTAA	0.617000													12	60					0.000151284	0.000166234	0.105934	1	0
LOC440040	440040	broad.mit.edu	37	11	49831408	49831408	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:49831408C>A	ENST00000527477.1	+	0	1633																											ACTGCAACACCTACAAGTTTT	0.453000													21	49					7.45023e-12	1.04604e-11	0.055883	1	0
SPTA1	6708	broad.mit.edu	37	1	158607828	158607828	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158607828C>A	ENST00000368148.3	-	36	5364	c.5184G>T	c.(5182-5184)tgG>tgT	p.W1728C	SPTA1_ENST00000368147.3_Missense_Mutation_p.W1728C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1728					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.W1728C(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATACTCTATCCAGGATTCCT	0.408000													80	163					8.40228e-50	1.7763e-49	0.048971	1	0
SLC8A1	6546	broad.mit.edu	37	2	40655830	40655830	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:40655830T>A	ENST00000406785.1	-	2	1780	c.1591A>T	c.(1591-1593)Att>Ttt	p.I531F	SLC8A1_ENST00000408028.2_Missense_Mutation_p.I531F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.I531F|SLC8A1_ENST00000405901.3_Missense_Mutation_p.I531F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000403092.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000402441.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000332839.4_Missense_Mutation_p.I531F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000542756.1_Missense_Mutation_p.I531F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	531	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.I531F(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCATCAAAAATAGTTACAGTG	0.438000													43	97					0	0	0.039052	0	0
SLIT3	6586	broad.mit.edu	37	5	168201305	168201305	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:168201305C>A	ENST00000519560.1	-	13	1649	c.1230G>T	c.(1228-1230)ctG>ctT	p.L410L	SLIT3_ENST00000332966.8_Silent_p.L410L|SLIT3_ENST00000404867.3_Silent_p.L410L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	410					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.L410L(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTTGTCATACAGGGAGAGCA	0.567000													244	355					1.40248e-98	3.11912e-98	0.048971	1	0
DST	667	broad.mit.edu	37	6	56516041	56516041	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:56516041G>T	ENST00000370754.5	-	10	1116	c.1115_splice	c.e10-1	p.P373_splice	DST_ENST00000370788.2_Splice_Site_p.P195_splice|DST_ENST00000312431.6_Splice_Site_p.P195_splice|DST_ENST00000421834.2_Splice_Site_p.P195_splice|DST_ENST00000361203.3_Splice_Site_p.P195_splice|DST_ENST00000370769.4_Splice_Site_p.P195_splice			Q03001	DYST_HUMAN	dystonin	195					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.P195M(2)|p.P373M(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCAGGTCCGGCCTAGGAAAA	0.323000													6	13					0.000157383	0.000171916	0.038147	1	0
CCDC136	64753	broad.mit.edu	37	7	128452071	128452071	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:128452071G>T	ENST00000297788.4	+	13	2613	c.2246G>T	c.(2245-2247)gGt>gTt	p.G749V	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	749						integral to membrane	protein binding	p.G749F(4)|p.G865F(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AAGAGCTATGGTAGCATGGTC	0.498000													84	63					6.85908e-49	1.4337e-48	0.048971	1	0
GPR112	139378	broad.mit.edu	37	X	135431732	135431732	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:135431732C>T	ENST00000394143.1	+	6	6158	c.5867C>T	c.(5866-5868)tCa>tTa	p.S1956L	GPR112_ENST00000370652.1_Missense_Mutation_p.S1956L|GPR112_ENST00000412101.1_Missense_Mutation_p.S1751L|GPR112_ENST00000287534.4_Missense_Mutation_p.S1893L|GPR112_ENST00000394141.1_Missense_Mutation_p.S1751L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1956					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1956L(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAGAACCCTTCATTATCAACA	0.428000													72	94					0	0	0.048971	0	0
TMEM40	55287	broad.mit.edu	37	3	12777053	12777053	+	Splice_Site	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:12777053C>T	ENST00000314124.7	-	11	1039		c.e11+1		TMEM40_ENST00000264728.8_Splice_Site|TMEM40_ENST00000435218.2_Splice_Site|TMEM40_ENST00000476331.1_Splice_Site|TMEM40_ENST00000435575.1_Splice_Site|TMEM40_ENST00000431022.2_Splice_Site	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40							integral to membrane		p.?(2)		breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TTAAAAGTTACCTGTCAGCCT	0.448000													21	109					0	0	0.076483	0	0
GFAP	2670	broad.mit.edu	37	17	42989121	42989121	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:42989121G>C	ENST00000253408.5	-	5	890	c.825C>G	c.(823-825)ctC>ctG	p.L275L	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.L275L|GFAP_ENST00000435360.2_Silent_p.L275L	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	275	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.L275L(4)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGCCTGGCGGAGCAGCTCCG	0.677000													38	52					0	0	0.104719	0	0
DHFRL1	200895	broad.mit.edu	37	3	93780055	93780055	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:93780055T>A	ENST00000394221.2	-	2	750	c.301A>T	c.(301-303)Act>Tct	p.T101S	DHFRL1_ENST00000314636.2_Missense_Mutation_p.T101S|DHFRL1_ENST00000481631.1_Intron	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	101	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding	p.T101S(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						GGTCGTTCAGTAAGTTTTAAG	0.378000													15	179					0	0	0.020292	0	0
IL2RB	3560	broad.mit.edu	37	22	37533689	37533689	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:37533689G>T	ENST00000216223.5	-	6	673	c.475C>A	c.(475-477)Cac>Aac	p.H159N		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	159	Fibronectin type-III.				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	p.H159N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCAAAGTAGTGGGAGGCTTGG	0.587000													27	115					1.42536e-11	1.97139e-11	0.099896	1	0
ROBO2	6092	broad.mit.edu	37	3	77684057	77684057	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:77684057C>A	ENST00000461745.1	+	24	4697	c.3797C>A	c.(3796-3798)aCc>aAc	p.T1266N	ROBO2_ENST00000332191.8_Missense_Mutation_p.T1327N|ROBO2_ENST00000487694.3_Missense_Mutation_p.T1282N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1266					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.T1282N(2)|p.T1266N(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCTCGACCTACCAGCCCATTT	0.463000													37	94					1.07121e-22	1.81583e-22	0.092188	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113519512	113519512	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:113519512C>G	ENST00000284601.3	-	4	1703	c.1635G>C	c.(1633-1635)atG>atC	p.M545I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	545					glycogen metabolic process	integral to membrane		p.M545I(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TAGGGTTACCCATCTTCCTTT	0.413000													73	59					0	0	0.048971	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117289	46117289	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr21:46117289T>A	ENST00000400365.3	+	1	203	c.173T>A	c.(172-174)gTa>gAa	p.V58E	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	58	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.V58E(2)		large_intestine(1)|lung(8)	9						GTGAGCCGTGTATCCAGCCCC	0.692000													26	152					0	0	0.091800	0	0
ZIC1	7545	broad.mit.edu	37	3	147128282	147128282	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:147128282T>A	ENST00000282928.4	+	1	1112	c.383T>A	c.(382-384)tTc>tAc	p.F128Y		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	128					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F128Y(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCGGGGGCTTCGGGGGCCCA	0.711000													6	25					0	0	0.038147	0	0
NAT10	55226	broad.mit.edu	37	11	34139979	34139979	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:34139979G>T	ENST00000257829.3	+	8	915	c.709G>T	c.(709-711)Gag>Tag	p.E237*	NAT10_ENST00000527971.1_Nonsense_Mutation_p.E237*|NAT10_ENST00000531159.2_Nonsense_Mutation_p.E165*	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	237						nucleolus	ATP binding|N-acetyltransferase activity|protein binding	p.E237*(2)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGAGCTGAGGGAGTTGAAGGA	0.532000													23	36					4.4004e-07	5.26156e-07	0.083992	1	0
ATP8B1	5205	broad.mit.edu	37	18	55359150	55359150	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:55359150G>A	ENST00000536015.1	-	12	1228	c.1109C>T	c.(1108-1110)tCt>tTt	p.S370F	ATP8B1_ENST00000283684.4_Missense_Mutation_p.S370F|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	370					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S370F(2)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GAGGTACCAAGAGGAATTGCC	0.448000													10	36					0	0	0.058154	0	0
PRDM9	56979	broad.mit.edu	37	5	23517995	23517995	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:23517995C>A	ENST00000296682.3	+	5	489	c.307C>A	c.(307-309)Cct>Act	p.P103T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	103					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.P103T(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TTTAGTCAAACCTCCTTGGAT	0.358000										HNSCC(3;0.000094)			54	213					6.3091e-27	1.12072e-26	0.048971	1	0
COX6B1	1340	broad.mit.edu	37	19	36145541	36145541	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:36145541C>T	ENST00000246554.3	+	3	367	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	COX6B1_ENST00000392201.1_Missense_Mutation_p.R59C|COX6B1_ENST00000592141.1_Missense_Mutation_p.R59C	NM_001863.4	NP_001854.1	P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	59					respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity	p.R76C(2)|p.R59C(2)		lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGGTACCAGCGTGTGTACCA	0.582000													16	107					0	0	0.024245	0	0
OR5B21	219968	broad.mit.edu	37	11	58275002	58275002	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:58275002T>A	ENST00000360374.2	-	1	576	c.577A>T	c.(577-579)Agc>Tgc	p.S193C		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S193C(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACCAACTTGCTGATGCGTGTG	0.463000													12	46					0	0	0.105934	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60015426	60015426	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:60015426G>A	ENST00000586569.1	+	2	139	c.101G>A	c.(100-102)tGt>tAt	p.C34Y	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.C34Y	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	34					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	p.C34Y(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GCTCCTCCATGTACCAGTGAG	0.483000													44	67					0	0	0.042209	0	0
PXDNL	137902	broad.mit.edu	37	8	52287227	52287227	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:52287227C>A	ENST00000356297.4	-	18	3722	c.3622G>T	c.(3622-3624)Ggt>Tgt	p.G1208C	PXDNL_ENST00000543296.1_Missense_Mutation_p.G1208C	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1208					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.G407C(2)|p.G1208C(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACTCTTGTACCAGGAATCAGG	0.478000													11	69					3.86212e-05	4.31192e-05	0.069234	1	0
ALPI	248	broad.mit.edu	37	2	233321921	233321921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:233321921C>A	ENST00000295463.3	+	5	614	c.537C>A	c.(535-537)taC>taA	p.Y179*		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	179					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.Y179*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGGCACCTACGCACACACAG	0.607000													10	105					3.86212e-05	4.31192e-05	0.069234	1	0
MYH8	4626	broad.mit.edu	37	17	10322326	10322326	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:10322326G>T	ENST00000403437.2	-	4	326	c.232C>A	c.(232-234)Caa>Aaa	p.Q78K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	78	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.Q78K(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGGAAGACTTGGTCTTCCCTG	0.448000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				20	58					8.34094e-07	9.86715e-07	0.049695	1	0
DPYSL5	56896	broad.mit.edu	37	2	27150120	27150120	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:27150120G>T	ENST00000288699.6	+	4	578		c.e4-1		DPYSL5_ENST00000401478.1_Splice_Site	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5						axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.?(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTTCTCCAGGTGAAAGCAG	0.577000													16	13					6.72482e-11	9.18674e-11	0.024245	1	0
ZNF667	63934	broad.mit.edu	37	19	56954088	56954088	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:56954088G>T	ENST00000504904.3	-	7	995	c.276C>A	c.(274-276)acC>acA	p.T92T	ZNF667_ENST00000292069.6_Silent_p.T92T|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Silent_p.T220T			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T92T(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTAACTTCTTGGTCTCACATT	0.373000													53	87					5.82388e-19	9.27816e-19	0.048971	1	0
ACSL6	23305	broad.mit.edu	37	5	131323838	131323838	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:131323838C>A	ENST00000379264.2	-	7	842	c.734G>T	c.(733-735)gGc>gTc	p.G245V	ACSL6_ENST00000379244.1_Missense_Mutation_p.G220V|ACSL6_ENST00000544770.1_Missense_Mutation_p.G129V|ACSL6_ENST00000379240.1_Missense_Mutation_p.G220V|ACSL6_ENST00000379272.2_Missense_Mutation_p.G235V|ACSL6_ENST00000357096.1_Missense_Mutation_p.G185V|ACSL6_ENST00000379249.3_Missense_Mutation_p.G220V|ACSL6_ENST00000543479.1_Missense_Mutation_p.G220V|ACSL6_ENST00000379246.1_Missense_Mutation_p.G231V|ACSL6_ENST00000379255.1_Missense_Mutation_p.G185V|ACSL6_ENST00000296869.4_Missense_Mutation_p.G245V|ACSL6_ENST00000431707.1_Missense_Mutation_p.G200V	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	220					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G245F(4)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCTTGAGGCCTGGAGTCTC	0.567000													154	240					7.183e-86	1.58482e-85	0.048971	1	0
DCHS1	8642	broad.mit.edu	37	11	6661905	6661905	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:6661905G>A	ENST00000299441.3	-	2	1351	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	314	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L314L(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTAACTGCAGCAGCCCCGTG	0.617000													16	96					0	0	0.091800	0	0
HOXB8	3218	broad.mit.edu	37	17	46690585	46690585	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:46690585C>A	ENST00000239144.4	-	2	945	c.711G>T	c.(709-711)gcG>gcT	p.A237A	HOXB7_ENST00000567101.1_Intron|HOXB8_ENST00000576562.1_Silent_p.A236A	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	237						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A237A(2)		large_intestine(1)|lung(8)|urinary_tract(2)	11						CGCCCTTCTGCGCGTCGCCCT	0.706000													60	86					2.22609e-26	3.92922e-26	0.048971	1	0
PTK2B	2185	broad.mit.edu	37	8	27312084	27312084	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:27312084G>T	ENST00000397501.1	+	35	3578	c.2770G>T	c.(2770-2772)Gtg>Ttg	p.V924L	PTK2B_ENST00000517339.1_Missense_Mutation_p.V882L|PTK2B_ENST00000420218.2_Missense_Mutation_p.V882L|PTK2B_ENST00000346049.5_Missense_Mutation_p.V924L|PTK2B_ENST00000338238.4_Missense_Mutation_p.V882L|PTK2B_ENST00000544172.1_Missense_Mutation_p.V924L	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	924	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.V924L(4)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CATCGGGAGCGTGGATGATCT	0.587000													11	75					2.80697e-09	3.57954e-09	0.080935	1	0
FLNC	2318	broad.mit.edu	37	7	128487758	128487758	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:128487758G>A	ENST00000325888.8	+	25	4557	c.4296G>A	c.(4294-4296)ccG>ccA	p.P1432P	FLNC_ENST00000346177.6_Silent_p.P1432P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1432					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.P1432P(3)		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						CAGGGAGCCCGTTCCGCGTGC	0.647000													21	125					0	0	0.062417	0	0
EXOC2	55770	broad.mit.edu	37	6	549257	549257	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:549257C>G	ENST00000230449.4	-	22	2291	c.2156G>C	c.(2155-2157)tGc>tCc	p.C719S	EXOC2_ENST00000448181.3_Missense_Mutation_p.C314S	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	719					exocytosis|protein transport			p.C719S(2)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTCTAGATAGCAGCAATTACT	0.373000													52	148					0	0	0.048971	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432400	104432400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:104432400G>A	ENST00000361820.3	-	3	2894	c.2294C>T	c.(2293-2295)gCt>gTt	p.A765V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	765					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CATGACAGCAGCCAAGTTTGC	0.408000													4	68					0	0	0.028581	0	0
ITGAL	3683	broad.mit.edu	37	16	30492758	30492758	+	Splice_Site	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:30492758A>G	ENST00000356798.6	+	7	756		c.e7-1		ITGAL_ENST00000358164.5_Splice_Site|ITGAL_ENST00000454514.2_Splice_Site|ITGAL_ENST00000433423.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)						blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.?(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTCCTTTTCTAGTTTGCTGCT	0.338000													19	27					0	0	0.049695	0	0
EPHA1	2041	broad.mit.edu	37	7	143096426	143096426	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:143096426C>A	ENST00000275815.3	-	5	1002	c.916G>T	c.(916-918)Gag>Tag	p.E306*		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	306	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E306*(4)|p.E306K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GTGGCCCCCTCAGACTCAGCA	0.657000													62	37					5.0973e-17	7.82901e-17	0.048971	1	0
DHX29	54505	broad.mit.edu	37	5	54572988	54572988	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:54572988T>C	ENST00000251636.5	-	13	2380	c.2232A>G	c.(2230-2232)acA>acG	p.T744T	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	744	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	p.T744T(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GTGTGAAATATGTAGAAAATT	0.363000													35	107					0	0	0.080422	0	0
OR6K3	391114	broad.mit.edu	37	1	158687606	158687606	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158687606C>A	ENST00000368146.1	-	1	347	c.348G>T	c.(346-348)caG>caT	p.Q116H	OR6K3_ENST00000368145.1_Missense_Mutation_p.Q100H			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q116H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGAAATACATCTGCAAGATGC	0.483000													39	260					1.69901e-12	2.41599e-12	0.080422	1	0
COL22A1	169044	broad.mit.edu	37	8	139749775	139749775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:139749775C>A	ENST00000303045.6	-	23	2577	c.2131G>T	c.(2131-2133)Ggg>Tgg	p.G711W	COL22A1_ENST00000435777.1_Missense_Mutation_p.G711W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	711	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G711W(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCTGCAGCCCCAGCAATCCA	0.473000										HNSCC(7;0.00092)			6	84					0.0381472	0.0396446	0.038147	1	0
MGAM	8972	broad.mit.edu	37	7	141759688	141759688	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:141759688T>C	ENST00000475668.2	+	33	4035	c.3981T>C	c.(3979-3981)ccT>ccC	p.P1327P	MGAM_ENST00000549489.2_Silent_p.P1327P			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1327	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1327P(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACACAGCCTTATCCTGCCT	0.463000													3	35					0	0	0.004672	0	0
COX6B2	125965	broad.mit.edu	37	19	55865866	55865866	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:55865866C>A	ENST00000593184.1	-	2	103	c.24G>T	c.(22-24)gaG>gaT	p.E8D	COX6B2_ENST00000588572.1_Missense_Mutation_p.E8D|CTD-2105E13.6_ENST00000591954.3_3'UTR|COX6B2_ENST00000590900.1_Missense_Mutation_p.E8D|COX6B2_ENST00000326529.4_Missense_Mutation_p.E8D			Q6YFQ2	CX6B2_HUMAN	cytochrome c oxidase subunit VIb polypeptide 2 (testis)	8						mitochondrial crista|mitochondrial intermembrane space	cytochrome-c oxidase activity	p.E8D(2)		endometrium(1)|kidney(1)|lung(2)|pancreas(1)	5	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCTTGGGGGGCTCCTGGGCTT	0.667000													24	170					4.7796e-09	5.99878e-09	0.099896	1	0
SAA4	6291	broad.mit.edu	37	11	18253967	18253967	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:18253967C>A	ENST00000278222.4	-	3	385	c.205G>T	c.(205-207)Ggt>Tgt	p.G69C	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2			serum amyloid A4, constitutive									p.G69C(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GCCCAGACACCCCCAGGTCCT	0.507000													36	293					5.71845e-15	8.59313e-15	0.080422	1	0
OR2T27	403239	broad.mit.edu	37	1	248813304	248813304	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:248813304G>T	ENST00000344889.3	-	1	881	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N294K(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGACATCCTTGTTCCTAAGGC	0.478000													27	66					5.60225e-13	8.04871e-13	0.041601	1	0
RORB	6096	broad.mit.edu	37	9	77257566	77257566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:77257566G>T	ENST00000376896.2	+	4	1084	c.472G>T	c.(472-474)Gtc>Ttc	p.V158F	RORB_ENST00000396204.2_Missense_Mutation_p.V169F	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	169	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.V158F(2)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TTATTACAACGTCGATTCCGG	0.512000													22	64					1.40151e-16	2.1349e-16	0.055883	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745809	77745809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:77745809G>T	ENST00000409088.3	-	3	1600	c.1186C>A	c.(1186-1188)Caa>Aaa	p.Q396K	LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q396K|LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q397K|LRRTM4_ENST00000409093.1_Missense_Mutation_p.Q396K|LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q397K	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	396						integral to membrane		p.Q396K(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGGTGGATTGGGTGACGTCA	0.493000													5	97					0.000602214	0.00064267	0.014758	1	0
RNASE2	6036	broad.mit.edu	37	14	21424301	21424301	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:21424301G>C	ENST00000304625.2	+	2	461	c.371G>C	c.(370-372)aGg>aCg	p.R124T		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	124					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	p.R124T(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TCAAACTGCAGGTATGCGCAG	0.458000													52	165					0	0	0.048971	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995244	140995244	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:140995244G>A	ENST00000285879.4	+	4	2340	c.2054G>A	c.(2053-2055)gGg>gAg	p.G685E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	685							protein binding	p.G685E(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCTGAGGGGGAGGATTCC	0.577000										HNSCC(15;0.026)			160	130					0	0	0.048971	0	0
SLIT3	6586	broad.mit.edu	37	5	168093468	168093468	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:168093468C>A	ENST00000519560.1	-	36	4982	c.4563G>T	c.(4561-4563)gcG>gcT	p.A1521A	SLIT3_ENST00000332966.8_Silent_p.A1528A|CTC-558O2.2_ENST00000520041.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1521	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.A1521A(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTAGGAACACGCGAGGCAGC	0.612000													8	18					0.0581538	0.0603237	0.058154	1	0
KRTAP3-1	83896	broad.mit.edu	37	17	39165133	39165133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:39165133C>G	ENST00000391588.1	-	1	233	c.194G>C	c.(193-195)tGc>tCc	p.C65S	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	65						keratin filament	structural molecule activity	p.C65S(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				GAGCAGCCAGCAAGTTGGCAC	0.597000													36	44					0	0	0.074837	0	0
GPR116	221395	broad.mit.edu	37	6	46826786	46826786	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:46826786T>C	ENST00000283296.7	-	17	3142	c.2854A>G	c.(2854-2856)Acg>Gcg	p.T952A	GPR116_ENST00000362015.4_Missense_Mutation_p.T952A|GPR116_ENST00000456426.2_Missense_Mutation_p.T810A|GPR116_ENST00000545669.1_Missense_Mutation_p.T381A|GPR116_ENST00000265417.7_Missense_Mutation_p.T952A	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	952	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T952A(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ACACACTTCGTTTCGCCGCCT	0.488000													36	130					0	0	0.069456	0	0
FAT3	120114	broad.mit.edu	37	11	92531657	92531657	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:92531657G>T	ENST00000298047.6	+	9	5495	c.5478G>T	c.(5476-5478)gtG>gtT	p.V1826V	FAT3_ENST00000525166.1_Silent_p.V1676V|FAT3_ENST00000409404.2_Silent_p.V1826V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1826	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1826V(4)		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)				TTTTCACGGTGGACTCCAGTA	0.488000										TCGA Ovarian(4;0.039)			16	31					2.32078e-09	2.97317e-09	0.024245	1	0
SMC3	9126	broad.mit.edu	37	10	112356170	112356170	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:112356170C>T	ENST00000361804.4	+	19	2104	c.1978C>T	c.(1978-1980)Cat>Tat	p.H660Y		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	660	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	p.H660Y(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CCAAGTCAGCCATCGGGGTGC	0.358000													32	112					0	0	0.045705	0	0
PIAS3	10401	broad.mit.edu	37	1	145578690	145578690	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:145578690C>T	ENST00000393045.2	+	3	586	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	PIAS3_ENST00000369299.3_Missense_Mutation_p.P157S|PIAS3_ENST00000369298.1_Missense_Mutation_p.P131S	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	166	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	p.P157S(2)|p.P166S(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCCCTCACACCCCAGCAAGT	0.527000													23	187					0	0	0.076483	0	0
PILRA	29992	broad.mit.edu	37	7	99971855	99971855	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:99971855A>T	ENST00000198536.2	+	2	465	c.253A>T	c.(253-255)Agg>Tgg	p.R85W	PILRA_ENST00000453419.1_Missense_Mutation_p.R85W|PILRA_ENST00000394000.2_Missense_Mutation_p.R85W|PILRA_ENST00000474013.1_3'UTR|PILRA_ENST00000350573.2_Missense_Mutation_p.R85W	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	85	Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	p.R85W(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTACAGCACAAGGCCGCCTTC	0.552000													81	101					0	0	0.048971	0	0
C2CD3	26005	broad.mit.edu	37	11	73768561	73768561	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:73768561C>T	ENST00000334126.7	-	25	5206	c.4980G>A	c.(4978-4980)tcG>tcA	p.S1660S	C2CD3_ENST00000313663.7_Silent_p.S1660S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1660	C2 2.					centrosome		p.S1660S(4)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AACTGGGTATCGATACTTTCC	0.448000													12	96					0	0	0.080935	0	0
GLP2R	9340	broad.mit.edu	37	17	9757860	9757860	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:9757860G>T	ENST00000262441.5	+	5	1066	c.553G>T	c.(553-555)Gga>Tga	p.G185*	GLP2R_ENST00000574745.1_Nonsense_Mutation_p.G5*	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	185					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.G185*(2)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GTACACCGTGGGATACTCCTT	0.517000													80	288					7.14593e-30	1.32881e-29	0.048971	1	0
RASAL2	9462	broad.mit.edu	37	1	178252789	178252789	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:178252789C>T	ENST00000448150.3	+	2	1057	c.239C>T	c.(238-240)aCa>aTa	p.T80I	RASAL2_ENST00000465723.1_3'UTR|RASAL2_ENST00000367649.3_Missense_Mutation_p.T98I	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.T80L(2)|p.T98L(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGCATCCTCACAGACAGCCAG	0.463000													22	202					0	0	0.099896	0	0
OLFM4	10562	broad.mit.edu	37	13	53624298	53624298	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:53624298C>A	ENST00000219022.2	+	5	1003	c.925C>A	c.(925-927)Ctg>Atg	p.L309M		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	309	Olfactomedin-like.				cell adhesion	extracellular space		p.L309M(2)		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)		GTACAACACACTGGATGATTT	0.433000													42	112					1.59361e-14	2.35651e-14	0.092188	1	0
ATPAF1	64756	broad.mit.edu	37	1	47131032	47131032	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:47131032C>A	ENST00000576409.1	-	2	402	c.340G>T	c.(340-342)Gac>Tac	p.D114Y	ATPAF1_ENST00000574428.1_Missense_Mutation_p.D91Y|EFCAB14_ENST00000544071.1_Missense_Mutation_p.Q375H|ATPAF1_ENST00000329231.4_Missense_Mutation_p.D114Y|ATPAF1_ENST00000371937.4_Missense_Mutation_p.D91Y|ATPAF1_ENST00000525633.1_5'UTR|ATPAF1_ENST00000542495.1_5'UTR|ATPAF1_ENST00000532925.1_Missense_Mutation_p.D3Y			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	91					protein complex assembly	mitochondrion	protein binding	p.D91Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GCAGCTGGGTCTGACCTGATC	0.463000													7	67					8.12818e-05	9.00253e-05	0.029380	1	0
MUC16	94025	broad.mit.edu	37	19	9069492	9069492	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:9069492C>A	ENST00000397910.4	-	3	18157	c.17954G>T	c.(17953-17955)aGt>aTt	p.S5985I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5987	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S5985I(4)|p.S1618I(2)		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						GCTACTTGCACTTGGTAAGGA	0.478000													26	176					1.38267e-23	2.38007e-23	0.108266	1	0
CECR5	27440	broad.mit.edu	37	22	17630516	17630516	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:17630516C>G	ENST00000336737.4	-	2	271	c.246G>C	c.(244-246)cgG>cgC	p.R82R	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000480451.1_5'UTR|CECR5_ENST00000155674.5_Silent_p.R52R	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	82							hydrolase activity	p.R82R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CCACGGGCACCCGCAGCTGCC	0.587000													91	184					0	0	0.048971	0	0
OR8A1	390275	broad.mit.edu	37	11	124440930	124440930	+	Missense_Mutation	SNP	G	G	T	rs145520583		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:124440930G>T	ENST00000284287.3	+	1	1038	c.966G>T	c.(964-966)agG>agT	p.R322S		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R322S(2)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AAACGCTGAGGGGTAAACTGT	0.443000													21	66					5.26018e-13	7.59652e-13	0.062417	1	0
PRKCB	5579	broad.mit.edu	37	16	24166177	24166177	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:24166177T>A	ENST00000303531.7	+	10	1390	c.1239_splice	c.e10+1	p.M413_splice	PRKCB_ENST00000321728.7_Splice_Site_p.M413_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	413	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.M413N(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTCCAGACCATGGTAACTTGT	0.587000													23	21					0	0	0.069288	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33400564	33400564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:33400564C>T	ENST00000418600.2	+	5	591	c.490C>T	c.(490-492)Cga>Tga	p.R164*	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Nonsense_Mutation_p.R105*|SYNGAP1_ENST00000293748.5_Nonsense_Mutation_p.R164*	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	164	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	p.R149*(1)|p.R164*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GCCTCGCTTCCGAAGTGCTGA	0.547000													5	77					0	0	0.014758	0	0
IQUB	154865	broad.mit.edu	37	7	123105065	123105065	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:123105065T>A	ENST00000466202.1	-	10	2158		c.e10-2		IQUB_ENST00000434450.1_Splice_Site|IQUB_ENST00000324698.6_Splice_Site			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing									p.?(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTCATGTTCCTATATAAAACA	0.308000													102	74					0	0	0.048971	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664173	44664173	+	Splice_Site	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:44664173A>T	ENST00000454036.1	+	3	423	c.348_splice	c.e3+1	p.Q116_splice	SLC12A5_ENST00000372315.1_Splice_Site_p.Q93_splice|SLC12A5_ENST00000243964.3_Splice_Site_p.Q93_splice|SLC12A5_ENST00000539566.1_Splice_Site_p.Q93_splice	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	116					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.Q93L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGCCGGTGCAGGTGAGGACC	0.562000													28	65					0	0	0.037714	0	0
FAT2	2196	broad.mit.edu	37	5	150948412	150948412	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:150948412G>T	ENST00000261800.5	-	1	93	c.81C>A	c.(79-81)tcC>tcA	p.S27S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	27					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.S27S(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGAGGAGGAGAGAATCC	0.483000													55	91					9.57592e-29	1.75717e-28	0.048971	1	0
FBXO21	23014	broad.mit.edu	37	12	117604777	117604777	+	Silent	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:117604777T>A	ENST00000427718.2	-	8	1193	c.1119A>T	c.(1117-1119)gcA>gcT	p.A373A	FBXO21_ENST00000330622.5_Silent_p.A373A	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	373					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.A373A(2)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CATACAGTGCTGCAGTCACGT	0.478000													28	120					0	0	0.041601	0	0
S100A7	6278	broad.mit.edu	37	1	153430349	153430349	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:153430349C>A	ENST00000368723.3	-	3	349	c.239G>T	c.(238-240)gGa>gTa	p.G80V	S100A7_ENST00000368722.1_Missense_Mutation_p.G80V	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	80	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	p.G80V(2)		breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTATGTCTCCCAGCAAGGA	0.527000													25	136					1.1804e-14	1.75952e-14	0.091800	1	0
RASAL1	8437	broad.mit.edu	37	12	113553049	113553049	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:113553049G>C	ENST00000546530.1	-	12	1309	c.1024C>G	c.(1024-1026)Cgt>Ggt	p.R342G	RASAL1_ENST00000446861.3_Missense_Mutation_p.R342G|RASAL1_ENST00000261729.5_Missense_Mutation_p.R342G|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.R342G	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	342	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	p.R342G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GAGTTAGAACGGAAGAGGGTG	0.577000													65	148					0	0	0.048971	0	0
XKR7	343702	broad.mit.edu	37	20	30585000	30585000	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:30585000G>T	ENST00000217299.3	+	3	1654	c.1480G>T	c.(1480-1482)Ggg>Tgg	p.G494W		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	494						integral to membrane		p.G494W(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAGCGTGCAGGGACCCCCAC	0.692000													9	72					7.48243e-07	8.88938e-07	0.058154	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378427	31378427	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:31378427G>A	ENST00000297142.3	-	2	778	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	152					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.I152I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GTCTCTTGCCGATTCTCAGAA	0.458000													11	215					0	0	0.080935	0	0
LRRC6	23639	broad.mit.edu	37	8	133673737	133673737	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:133673737G>T	ENST00000519595.1	-	2	245	c.147C>A	c.(145-147)ctC>ctA	p.L49L	LRRC6_ENST00000518642.1_Silent_p.L49L|LRRC6_ENST00000250173.1_Silent_p.L49L|LRRC6_ENST00000520446.1_5'UTR			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	49						cytoplasm		p.L49L(2)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTTGAAGATAGAGAATTTTTA	0.358000													10	60					2.17888e-05	2.47236e-05	0.058154	1	0
NAALAD2	10003	broad.mit.edu	37	11	89891342	89891342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:89891342G>T	ENST00000534061.1	+	7	1056	c.826G>T	c.(826-828)Gga>Tga	p.G276*	NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Nonsense_Mutation_p.G276*	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	276	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.G276*(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGTTGAAGAAGGAGTGGGAAT	0.313000													85	185					9.29269e-31	1.75739e-30	0.048971	1	0
OR8B3	390271	broad.mit.edu	37	11	124266919	124266919	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:124266919G>T	ENST00000354597.3	-	1	345	c.329C>A	c.(328-330)tCt>tAt	p.S110Y		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S110Y(2)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GTAACATTCAGAGATGACAAA	0.383000													31	48					2.49534e-26	4.37669e-26	0.045705	1	0
ADCY4	196883	broad.mit.edu	37	14	24802138	24802138	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:24802138G>C	ENST00000310677.4	-	3	329	c.216C>G	c.(214-216)ttC>ttG	p.F72L	ADCY4_ENST00000554068.2_Missense_Mutation_p.F72L|ADCY4_ENST00000558563.1_5'UTR|RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.L139V|ADCY4_ENST00000418030.2_Missense_Mutation_p.F72L|ADCY4_ENST00000396747.3_5'UTR	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	72					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|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	p.F72L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCAGCAGCGAGAAGCCGCCCA	0.672000											OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	44					0	0	0.024245	0	0
IL12RB2	3595	broad.mit.edu	37	1	67833708	67833708	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:67833708G>T	ENST00000262345.1	+	10	2099	c.1459_splice	c.e10+1	p.E487_splice	IL12RB2_ENST00000541374.1_Splice_Site_p.E487_splice|IL12RB2_ENST00000544434.1_Splice_Site_p.E487_splice|IL12RB2_ENST00000371000.1_Splice_Site_p.E487_splice	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	487	Fibronectin type-III 4.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.E487*(2)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TCTGATTTCAGGTACCTAATT	0.502000													20	99					8.34094e-07	9.86715e-07	0.049695	1	0
SLC44A1	23446	broad.mit.edu	37	9	108127811	108127811	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:108127811G>T	ENST00000374720.3	+	11	1548	c.1301G>T	c.(1300-1302)cGc>cTc	p.R434L	SLC44A1_ENST00000374724.1_Missense_Mutation_p.R434L|SLC44A1_ENST00000343170.7_Missense_Mutation_p.R226L|SLC44A1_ENST00000374723.1_Missense_Mutation_p.R434L	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	434						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.R434L(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TCAGTAAATCGCCTTATTCGT	0.363000													16	88					6.31663e-08	7.73578e-08	0.024245	1	0
GUCY2F	2986	broad.mit.edu	37	X	108652325	108652325	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:108652325C>A	ENST00000218006.2	-	9	2155	c.1864G>T	c.(1864-1866)Gtg>Ttg	p.V622L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	622	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.V622L(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AATTCTGTCACAATGGCAAAC	0.408000													101	114					4.82855e-46	9.94324e-46	0.048971	1	0
MOXD1	26002	broad.mit.edu	37	6	132649636	132649636	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:132649636C>T	ENST00000367963.3	-	5	879	c.761G>A	c.(760-762)gGc>gAc	p.G254D	MOXD1_ENST00000336749.3_Missense_Mutation_p.G186D	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	254					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.G186D(2)|p.G254D(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GCACTCGTGGCCGGACTCCAG	0.517000													27	65					0	0	0.099896	0	0
MROH8	140699	broad.mit.edu	37	20	35737029	35737029	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:35737029T>C	ENST00000400441.3	-	23	2952	c.2953A>G	c.(2953-2955)Agg>Ggg	p.R985G	MROH8_ENST00000217333.8_Missense_Mutation_p.R814G|MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000466091.1_5'UTR					maestro heat-like repeat family member 8									p.R985G(2)									GTACCCATCCTCCTGAGCTCA	0.453000													3	10					0	0	0.009096	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883304	19883304	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:19883304G>T	ENST00000300571.2	-	2	1055	c.864C>A	c.(862-864)gcC>gcA	p.A288A	GPRC5B_ENST00000537135.1_Silent_p.A314A|GPRC5B_ENST00000535671.1_Silent_p.A288A|GPRC5B_ENST00000569847.1_Silent_p.A288A|GPRC5B_ENST00000569479.1_Silent_p.A288A	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	288								p.A288A(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCTCAGGGATGGCGTGGAAGA	0.637000													39	40					6.19805e-25	1.07691e-24	0.080422	1	0
OR51B5	282763	broad.mit.edu	37	11	5364170	5364170	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:5364170C>G	ENST00000300773.2	-	1	639	c.585G>C	c.(583-585)ctG>ctC	p.L195L	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L195L(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCTGGGTACAGTCGGTTGA	0.423000													71	121					0	0	0.048971	0	0
ZNF579	163033	broad.mit.edu	37	19	56090015	56090015	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:56090015C>A	ENST00000325421.4	-	2	1019	c.991G>T	c.(991-993)Gcg>Tcg	p.A331S		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	331	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A331T(1)|p.A331S(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		TTGCCCGCCGCGGGCAGCGGG	0.751000													7	15					1.58986e-06	1.86098e-06	0.069234	1	0
SELENBP1	8991	broad.mit.edu	37	1	151338093	151338093	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:151338093C>A	ENST00000435071.1	-	9	1260	c.798G>T	c.(796-798)ggG>ggT	p.G266G	SELENBP1_ENST00000447402.3_Silent_p.G268G|SELENBP1_ENST00000368868.5_Silent_p.G330G|SELENBP1_ENST00000426705.2_Silent_p.G372G			Q13228	SBP1_HUMAN	selenium binding protein 1	330					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	p.G330G(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCAGGTCCCCATGCAGCC	0.592000													158	210					8.174e-68	1.77529e-67	0.048971	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47422455	47422455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:47422455G>T	ENST00000404338.3	+	1	523	c.523G>T	c.(523-525)Gat>Tat	p.D175Y		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	175					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.D175Y(4)									TAGGAACTTTGATGACCAGCT	0.453000													10	74					0.000442599	0.000475068	0.058154	1	0
CCDC89	220388	broad.mit.edu	37	11	85396473	85396473	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:85396473T>A	ENST00000316398.3	-	1	847	c.701A>T	c.(700-702)cAg>cTg	p.Q234L		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	234						cytoplasm|nucleus		p.Q234L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTTGAGGGTCTGCAGCTGGCT	0.647000													19	101					0	0	0.091800	0	0
INHBB	3625	broad.mit.edu	37	2	121107308	121107308	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:121107308G>T	ENST00000295228.3	+	2	1128	c.1082G>T	c.(1081-1083)cGg>cTg	p.R361L		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	361					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	p.R361L(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TACCGCATGCGGGGTCTGAAC	0.607000													35	75					3.86903e-22	6.46e-22	0.054565	1	0
TRIML1	339976	broad.mit.edu	37	4	189068316	189068316	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:189068316C>A	ENST00000332517.3	+	6	1337	c.1197C>A	c.(1195-1197)caC>caA	p.H399Q	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	399	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.H399Q(3)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGGTCAGCACGTCAGAGAGC	0.488000													74	161					2.51111e-31	4.78142e-31	0.048971	1	0
TLCD1	116238	broad.mit.edu	37	17	27051724	27051724	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:27051724C>A	ENST00000292090.3	-	4	658	c.548G>T	c.(547-549)cGc>cTc	p.R183L	TLCD1_ENST00000394933.3_Missense_Mutation_p.R136L	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	183	TLC.					integral to membrane		p.R183L(2)		breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					AGGGGCCAGGCGGAAGAGAAA	0.517000													35	181					4.3181e-19	6.93891e-19	0.054565	1	0
CASC3	22794	broad.mit.edu	37	17	38318060	38318060	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:38318060G>A	ENST00000264645.7	+	4	578	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	118					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	p.E118K(2)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCTGAAATCAGAAGCTAATGA	0.438000													44	84					0	0	0.111260	0	0
HDAC9	9734	broad.mit.edu	37	7	18688221	18688221	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:18688221C>G	ENST00000406451.3	+	11	1523	c.1373C>G	c.(1372-1374)aCg>aGg	p.T458R	HDAC9_ENST00000441542.2_Missense_Mutation_p.T461R|HDAC9_ENST00000406072.1_Missense_Mutation_p.T445R|HDAC9_ENST00000432645.2_Missense_Mutation_p.T458R|HDAC9_ENST00000405010.3_Missense_Mutation_p.T458R|HDAC9_ENST00000428307.2_Missense_Mutation_p.T414R|HDAC9_ENST00000401921.1_Missense_Mutation_p.T417R|HDAC9_ENST00000456174.2_Missense_Mutation_p.T430R|HDAC9_ENST00000524023.1_Missense_Mutation_p.T381R|HDAC9_ENST00000417496.2_Missense_Mutation_p.T456R	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	458					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.T461R(4)|p.T456R(2)|p.T458R(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTCAGAGCACGTTGGCTCAG	0.507000													58	139					0	0	0.048971	0	0
FBN3	84467	broad.mit.edu	37	19	8183790	8183790	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:8183790C>G	ENST00000600128.1	-	26	3742	c.3328G>C	c.(3328-3330)Gcc>Ccc	p.A1110P	FBN3_ENST00000601739.1_Missense_Mutation_p.A1110P|FBN3_ENST00000270509.2_Missense_Mutation_p.A1110P			Q75N90	FBN3_HUMAN	fibrillin 3	1110	EGF-like 14; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.A1110P(2)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCTCACAGGCAGTGCCCTTG	0.587000													16	112					0	0	0.038395	0	0
SF3B1	23451	broad.mit.edu	37	2	198266709	198266709	+	Splice_Site	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:198266709C>G	ENST00000335508.5	-	15	2314	c.2223_splice	c.e15+1	p.K741_splice		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	741					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.K741N(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTGGATTTACCTTTCCTCTGT	0.343000			Mis		myelodysplastic syndrome								25	41					0	0	0.099896	0	0
PHRF1	57661	broad.mit.edu	37	11	608329	608329	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:608329G>C	ENST00000264555.5	+	14	3001	c.2873G>C	c.(2872-2874)cGg>cCg	p.R958P	PHRF1_ENST00000413872.2_Missense_Mutation_p.R956P|PHRF1_ENST00000533464.1_Missense_Mutation_p.R954P|PHRF1_ENST00000416188.2_Missense_Mutation_p.R957P	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	958							RNA polymerase binding|zinc ion binding	p.R958P(1)|p.R963P(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCTGAGGAGCGGACGGTGACC	0.692000													8	11					0	0	0.047766	0	0
AKR7L	246181	broad.mit.edu	37	1	19595787	19595787	+	RNA	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:19595787C>G	ENST00000420396.2	-	0	507				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GATCTCTGCCCACTGAGTCCC	0.587000													6	63					0	0	0.021553	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077218	19077218	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:19077218G>C	ENST00000329773.2	-	2	819	c.732C>G	c.(730-732)ttC>ttG	p.F244L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	244					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.F244L(2)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ATAATATTAGGAACCACTGAA	0.502000													13	86					0	0	0.105934	0	0
NEK10	152110	broad.mit.edu	37	3	27329206	27329206	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:27329206T>A	ENST00000429845.2	-	21	2134	c.1772A>T	c.(1771-1773)tAc>tTc	p.Y591F	NEK10_ENST00000357467.2_5'UTR|NEK10_ENST00000341435.5_Missense_Mutation_p.Y591F			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	591	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Y591F(3)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAATGTTTTGTAATAACGTAC	0.264000													4	40					0	0	0.021553	0	0
MGAM	8972	broad.mit.edu	37	7	141755521	141755521	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:141755521C>A	ENST00000475668.2	+	28	3532	c.3478C>A	c.(3478-3480)Cca>Aca	p.P1160T	MGAM_ENST00000549489.2_Missense_Mutation_p.P1160T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1160	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1160T(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACCAGCCCCCAGGGGTAAG	0.547000													51	57					5.13769e-22	8.55256e-22	0.048971	1	0
PPIG	9360	broad.mit.edu	37	2	170493475	170493475	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:170493475G>T	ENST00000260970.3	+	14	1927	c.1707G>T	c.(1705-1707)agG>agT	p.R569S	PPIG_ENST00000409714.3_Missense_Mutation_p.R554S|PPIG_ENST00000448752.2_Missense_Mutation_p.R569S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	569	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R569T(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GCAGAAGTAGGGACAGAAGCA	0.438000													8	55					0.000274275	0.000294965	0.047766	1	0
KRT28	162605	broad.mit.edu	37	17	38950232	38950232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:38950232G>A	ENST00000306658.7	-	6	1110	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	349	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.Q349*(2)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				ATCTGAGCCTGGATCTGCGCC	0.582000													149	167					0	0	0.048971	0	0
FBN2	2201	broad.mit.edu	37	5	127686687	127686687	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:127686687C>A	ENST00000508053.1	-	27	3659	c.2685G>T	c.(2683-2685)aaG>aaT	p.K895N	FBN2_ENST00000262464.4_Missense_Mutation_p.K895N|FBN2_ENST00000508989.1_Missense_Mutation_p.K862N			P35556	FBN2_HUMAN	fibrillin 2	895					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.K895N(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AACAGGTCCCCTTCAGGCTGT	0.493000													50	62					4.01344e-20	6.52477e-20	0.048971	1	0
HUS1B	135458	broad.mit.edu	37	6	656317	656317	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:656317G>A	ENST00000380907.2	-	1	646	c.628C>T	c.(628-630)Cct>Tct	p.P210S	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	210								p.P210S(2)		endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GACTGGGGAGGGTTTCCAAGA	0.517000													73	251					0	0	0.048971	0	0
CYP2A6	1548	broad.mit.edu	37	19	41351932	41351932	+	Missense_Mutation	SNP	C	C	G	rs60823196		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:41351932C>G	ENST00000301141.5	-	6	922	c.902G>C	c.(901-903)gGg>gCg	p.G301A	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	301					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CTCGGTGCCCCCAATGAAGAG	0.582000													4	108					0	0	0.014758	0	0
MYH6	4624	broad.mit.edu	37	14	23863047	23863047	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:23863047G>A	ENST00000405093.3	-	22	2826	c.2756C>T	c.(2755-2757)gCc>gTc	p.A919V	MYH6_ENST00000356287.3_Missense_Mutation_p.A919V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	919					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.A919V(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTTACTTTGGCCTCCAGCTG	0.527000													40	118					0	0	0.092188	0	0
ATPIF1	93974	broad.mit.edu	37	1	28564412	28564412	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:28564412A>C	ENST00000335514.5	+	3	295	c.244A>C	c.(244-246)Aag>Cag	p.K82Q	ATPIF1_ENST00000497986.1_3'UTR|ATPIF1_ENST00000468425.2_Intron|ATPIF1_ENST00000465645.1_3'UTR	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	82					angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity	p.K82Q(2)		lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CGTTCATCATAAGAAGGAGAT	0.408000													28	49					0	0	0.099896	0	0
ACE2	59272	broad.mit.edu	37	X	15607507	15607507	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:15607507C>G	ENST00000427411.1	-	6	872	c.656G>C	c.(655-657)cGc>cCc	p.R219P	ACE2_ENST00000252519.3_Missense_Mutation_p.R219P	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	219					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	p.R219P(2)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CAACTGGCCGCGGCTGTAGTC	0.423000													47	183					0	0	0.048971	0	0
ZNF702P	79986	broad.mit.edu	37	19	53472546	53472546	+	RNA	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:53472546C>T	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							CTTCATTATGCATTCTCCAAT	0.358000													7	6					0	0	0.038147	0	0
ADH7	131	broad.mit.edu	37	4	100340162	100340162	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:100340162C>A	ENST00000437033.2	-	7	1445	c.942G>T	c.(940-942)tgG>tgT	p.W314C	ADH7_ENST00000209665.4_Missense_Mutation_p.W326C|ADH7_ENST00000482593.1_Missense_Mutation_p.W257C|ADH7_ENST00000476959.1_Missense_Mutation_p.W334C			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	326					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	p.W326C(2)|p.W334C(2)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CACATCCCTTCCATGTGCGTC	0.537000													38	122					5.71845e-15	8.59313e-15	0.080422	1	0
SORCS2	57537	broad.mit.edu	37	4	7677859	7677859	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:7677859A>T	ENST00000507866.2	+	9	1353	c.1244A>T	c.(1243-1245)tAc>tTc	p.Y415F	SORCS2_ENST00000329016.9_Missense_Mutation_p.Y243F	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	415						integral to membrane	neuropeptide receptor activity	p.Y265F(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TACAACCTGTACCAGTCGGAC	0.637000													3	3					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41049236	41049236	+	Silent	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:41049236A>G	ENST00000399564.4	-	15	1959	c.1509T>C	c.(1507-1509)ctT>ctC	p.L503L	MROH2B_ENST00000506092.2_Silent_p.L58L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.L503L(1)									GTGGTGAAGGAAGTTTCACTA	0.418000													10	69					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390454	158390454	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:158390454C>A	ENST00000314902.2	-	1	202	c.203G>T	c.(202-204)tGc>tTc	p.C68F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C68F(2)		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)					AATCTCAGAGCAAGAGAGGAT	0.488000													150	902					1.38063e-58	2.49073e-58	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20976235	20976235	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:20976235G>A	ENST00000261383.3	-	53	8970	c.8971C>T	c.(8971-8973)Cgc>Tgc	p.R2991C	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2991					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2991C(4)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTAGTATAGCGGATCCCCAGC	0.532000													167	101					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202436	56202436	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:56202436C>A	ENST00000361673.3	-	5	5196	c.4983G>T	c.(4981-4983)gaG>gaT	p.E1661D		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1661							ATP binding|protein serine/threonine kinase activity	p.E1022D(2)|p.E1661D(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTTCTCTAACTCACGTTCTC	0.498000													48	220					5.73332e-34	9.39138e-34	1	1	0
FRMD4A	55691	broad.mit.edu	37	10	13782541	13782541	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:13782541G>A	ENST00000357447.2	-	10	953	c.585C>T	c.(583-585)aaC>aaT	p.N195N	FRMD4A_ENST00000378503.1_Silent_p.N195N|FRMD4A_ENST00000342409.2_Silent_p.N211N|FRMD4A_ENST00000358621.4_Silent_p.N180N|RP11-353M9.1_ENST00000449462.1_RNA	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	195	FERM.					cytoplasm|cytoskeleton	binding	p.N195N(2)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TTGTCTGACCGTTCAGTTTCT	0.443000													61	186					0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197890725	197890725	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:197890725G>T	ENST00000367390.3	+	4	669	c.642G>T	c.(640-642)caG>caT	p.Q214H	LHX9_ENST00000367391.1_Missense_Mutation_p.Q214H|LHX9_ENST00000337020.2_Missense_Mutation_p.Q223H|LHX9_ENST00000367387.4_Missense_Mutation_p.Q223H|LHX9_ENST00000561173.1_Missense_Mutation_p.Q229H	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	223					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.Q223H(2)|p.Q214H(2)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCACCGTGCAGAAAGGGCGGC	0.652000													8	14					4.68919e-08	5.33908e-08	1	1	0
NRAP	4892	broad.mit.edu	37	10	115410292	115410292	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:115410292C>T	ENST00000369358.4	-	8	932	c.688G>A	c.(688-690)Gag>Aag	p.E230K	NRAP_ENST00000369360.3_Missense_Mutation_p.E230K|NRAP_ENST00000359988.3_Missense_Mutation_p.E230K|NRAP_ENST00000360478.3_Missense_Mutation_p.E230K			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	230						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.E230K(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCATAGTCCTCTGTGTATCTC	0.448000													53	81					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46496817	46496817	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:46496817C>A	ENST00000231751.4	-	5	910	c.615G>T	c.(613-615)caG>caT	p.Q205H	LTF_ENST00000426532.2_Missense_Mutation_p.Q161H|LTF_ENST00000417439.1_Missense_Mutation_p.Q205H	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	205	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.Q205_E206>H*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AGTACGGTTCCTGGGAGGAGA	0.582000													36	104					2.26627e-22	3.27078e-22	1	1	0
CCDC39	339829	broad.mit.edu	37	3	180378459	180378459	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:180378459C>A	ENST00000273654.4	-	10	1286	c.667G>T	c.(667-669)Gac>Tac	p.D223Y	CCDC39_ENST00000442201.2_Missense_Mutation_p.D139Y			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	139					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.D223Y(1)|p.D139Y(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GCTTGCTGGTCCCAGTTCATT	0.378000													5	43					3.59834e-05	3.8897e-05	1	1	0
ASMTL	8623	broad.mit.edu	37	X	1561078	1561078	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:1561078C>A	ENST00000534940.1	-	2	277		c.e2+1		ASMTL_ENST00000416733.2_Splice_Site|ASMTL_ENST00000381317.3_Splice_Site|ASMTL_ENST00000381333.4_Splice_Site	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like						melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	p.?(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGCCCCTTGCCTGGTACAGC	0.527000													23	68					1.02151e-06	1.14839e-06	1	1	0
FLNC	2318	broad.mit.edu	37	7	128486498	128486498	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:128486498C>A	ENST00000325888.8	+	23	4369	c.4108C>A	c.(4108-4110)Cga>Aga	p.R1370R	FLNC_ENST00000346177.6_Silent_p.R1370R	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1370					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.R1370R(2)		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						CAAGGCCAACCGATTCACTGT	0.642000													21	26					1.13719e-10	1.35247e-10	1	1	0
CYFIP2	26999	broad.mit.edu	37	5	156731349	156731349	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:156731349C>G	ENST00000347377.6	+	8	1201	c.770C>G	c.(769-771)cCc>cGc	p.P257R	CYFIP2_ENST00000377576.3_Missense_Mutation_p.P257R|CYFIP2_ENST00000521420.1_Missense_Mutation_p.P231R|CYFIP2_ENST00000541131.1_Missense_Mutation_p.P182R|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Missense_Mutation_p.P257R|CYFIP2_ENST00000442283.2_5'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	257					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	p.P257R(6)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TACCTGACTCCCAGTGAGAAA	0.488000													34	263					0	0	1	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938031	116938031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:116938031C>A	ENST00000229554.5	+	1	382	c.245C>A	c.(244-246)cCt>cAt	p.P82H	RSPH4A_ENST00000368580.4_Missense_Mutation_p.P82H|RSPH4A_ENST00000368581.4_Missense_Mutation_p.P82H	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	82					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.P82H(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACATCATCACCTGCTCCTGTC	0.652000									Kartagener syndrome				26	34					8.16721e-17	1.0849e-16	1	1	0
GMFG	9535	broad.mit.edu	37	19	39819649	39819649	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:39819649C>A	ENST00000598034.1	-	6	377	c.348G>T	c.(346-348)gaG>gaT	p.E116D	GMFG_ENST00000602185.1_Missense_Mutation_p.E67D|GMFG_ENST00000595636.1_3'UTR|GMFG_ENST00000601387.1_Missense_Mutation_p.E75D|GMFG_ENST00000600322.1_Missense_Mutation_p.E83D|GMFG_ENST00000594700.1_Intron|GMFG_ENST00000597595.1_Missense_Mutation_p.E116D|GMFG_ENST00000253054.8_Missense_Mutation_p.E83D			O60234	GMFG_HUMAN	glia maturation factor, gamma	116	ADF-H.				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity	p.E116D(2)		breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCTTTGTGAGCTCTGCTGTCT	0.552000													31	63					8.16904e-11	9.75899e-11	1	1	0
RASAL2	9462	broad.mit.edu	37	1	178252788	178252788	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:178252788A>T	ENST00000448150.3	+	2	1056	c.238A>T	c.(238-240)Aca>Tca	p.T80S	RASAL2_ENST00000367649.3_Missense_Mutation_p.T98S|RASAL2_ENST00000465723.1_3'UTR	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.T80L(2)|p.T98L(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTGCATCCTCACAGACAGCCA	0.463000													127	792					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18844354	18844354	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:18844354C>A	ENST00000446231.2	-	51	9112	c.8700G>T	c.(8698-8700)ctG>ctT	p.L2900L	SMG1_ENST00000389467.3_Silent_p.L2900L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2900					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.L2896L(2)|p.L2900L(2)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTAGAGTCTGCAGGGGAACGC	0.468000													589	539					1.36508e-182	2.8145e-182	1	1	0
IGKV4-1	28908	broad.mit.edu	37	2	89185128	89185128	+	RNA	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:89185128G>C	ENST00000390243.2	+	0	216																											CTGTTGCTCTGGATCTCTGGT	0.398000													63	394					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632739	32632739	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:32632739G>A	ENST00000242310.4	-	1	2928	c.2839C>T	c.(2839-2841)Cac>Tac	p.H947Y		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	947					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.H947Y(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAGCAGCGTGAACTTCATCA	0.493000													40	229					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120952514	120952514	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:120952514T>C	ENST00000273666.6	+	12	1434	c.1163T>C	c.(1162-1164)gTa>gCa	p.V388A	STXBP5L_ENST00000497029.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000471454.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000492541.1_Missense_Mutation_p.V388A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	388					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.V388A(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GATCTCATTGTAGTTGATCTG	0.284000													36	137					0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460697	1460697	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr20:1460697C>A	ENST00000359801.3	-	2	135	c.99G>T	c.(97-99)caG>caT	p.Q33H	SIRPB2_ENST00000444444.1_Missense_Mutation_p.Q33H|SIRPB2_ENST00000381630.1_Missense_Mutation_p.Q33H|SIRPB2_ENST00000537284.1_5'UTR	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	33	Ig-like V-type 1.					integral to membrane		p.Q33H(2)|p.Q132H(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCTGCTGCTCTGCCCAGAGG	0.527000													22	36					6.05902e-23	8.91327e-23	1	1	0
PHF14	9678	broad.mit.edu	37	7	11068363	11068363	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:11068363G>T	ENST00000403050.3	+	7	1825	c.1373G>T	c.(1372-1374)tGt>tTt	p.C458F	PHF14_ENST00000445996.2_Missense_Mutation_p.C173F	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	458							zinc ion binding	p.C458F(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGCATTAGCTGTGATGCAGGG	0.448000													85	222					8.34767e-46	1.43333e-45	1	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140711062	140711062	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:140711062G>A	ENST00000517417.1	+	1	811	c.811G>A	c.(811-813)Gag>Aag	p.E271K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E271K	NM_018912.2	NP_061735.1												p.E271K(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCCTGATGAGGGAGCCAA	0.448000													4	63					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61886919	61886919	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:61886919G>T	ENST00000578681.1	+	12	1753		c.e12-1		DDX42_ENST00000583590.1_Splice_Site|DDX42_ENST00000457800.2_Splice_Site|DDX42_ENST00000389924.2_Splice_Site|DDX42_ENST00000359353.5_Splice_Site	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.?(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TGATCTTATAGGGTCGACTGA	0.378000													9	188					4.68919e-08	5.33908e-08	1	1	0
OR10R2	343406	broad.mit.edu	37	1	158450337	158450337	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:158450337G>T	ENST00000368152.1	+	1	670	c.670G>T	c.(670-672)Gtt>Ttt	p.V224F	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V224F(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CATTTGTGGAGTTCTTGTACT	0.423000													160	261					2.72223e-112	5.46494e-112	1	1	0
MCTP1	79772	broad.mit.edu	37	5	94224666	94224666	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:94224666C>A	ENST00000515393.1	-	12	1850	c.1851G>T	c.(1849-1851)agG>agT	p.R617S	MCTP1_ENST00000505078.1_Missense_Mutation_p.R133S|MCTP1_ENST00000505208.1_Missense_Mutation_p.R396S|MCTP1_ENST00000429576.2_Missense_Mutation_p.R350S|MCTP1_ENST00000312216.8_Missense_Mutation_p.R396S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	617	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.R617S(2)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGTGAAATATCCTCAATGGGC	0.423000													95	85					2.12868e-59	3.86637e-59	1	1	0
SEC16A	9919	broad.mit.edu	37	9	139371251	139371251	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:139371251C>A	ENST00000313050.7	-	1	890	c.817G>T	c.(817-819)Gca>Tca	p.A273S	SEC16A_ENST00000431893.2_Missense_Mutation_p.A95S|SEC16A_ENST00000371706.3_Missense_Mutation_p.A95S|SEC16A_ENST00000290037.6_Missense_Mutation_p.A95S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	95					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.A273S(4)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCAAGGCTGCTGGGGGAGCC	0.587000													3	5					0.150653	0.150936	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129635943	129635943	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:129635943G>T	ENST00000421865.2	+	24	3604	c.3555_splice	c.e24+1	p.W1185_splice		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1185	Laminin IV type A 2.				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	p.W1185F(2)		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)		TCCGGACGTGGGTGAGTAGGG	0.483000													59	92					1.43987e-31	2.28836e-31	1	1	0
MIR517B	574483	broad.mit.edu	37	19	54224383	54224383	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:54224383C>A	ENST00000385102.1	+	0	54					NR_030205.1																						TCGTGCATCCCTTTAGAGTGT	0.423000													51	347					3.89483e-19	5.37426e-19	1	1	0
NBAS	51594	broad.mit.edu	37	2	15492159	15492159	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:15492159T>A	ENST00000281513.5	-	35	4161	c.4136A>T	c.(4135-4137)gAa>gTa	p.E1379V	NBAS_ENST00000441750.1_Missense_Mutation_p.E1259V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1379								p.E1379V(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTGATATTTTCCCCTCCTTC	0.368000													54	278					0	0	1	0	0
BRE	9577	broad.mit.edu	37	2	28521252	28521252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:28521252C>T	ENST00000344773.2	+	11	1120	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	BRE_ENST00000361704.2_Nonsense_Mutation_p.Q328*|BRE_ENST00000379632.2_Nonsense_Mutation_p.Q328*|BRE_ENST00000342045.2_Nonsense_Mutation_p.Q328*|BRE_ENST00000379624.1_Nonsense_Mutation_p.Q328*	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	328	UEV-like 2.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.Q328*(9)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TCTCACATTTCAGTCCGTTTA	0.428000													257	435					0	0	1	0	0
IFNA7	3444	broad.mit.edu	37	9	21202067	21202067	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:21202067C>A	ENST00000239347.3	-	1	137	c.98G>T	c.(97-99)cGt>cTt	p.R33L		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	33					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.R33L(2)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCTCCTATTACGCAGGCTGTG	0.507000													44	226					4.86159e-25	7.23145e-25	1	1	0
LRRC66	339977	broad.mit.edu	37	4	52861722	52861722	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:52861722C>T	ENST00000343457.3	-	4	1472	c.1466G>A	c.(1465-1467)gGa>gAa	p.G489E		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	489						integral to membrane		p.G489E(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCCGCACTGTCCTGGGCTCTG	0.547000													127	270					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95088804	95088804	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:95088804G>T	ENST00000553947.1	+	7	2007	c.1119G>T	c.(1117-1119)ggG>ggT	p.G373G	SERPINA3_ENST00000393078.3_Silent_p.G348G|SERPINA3_ENST00000393080.4_Silent_p.G348G|SERPINA3_ENST00000556388.1_3'UTR|SERPINA3_ENST00000467132.1_Silent_p.G348G|SERPINA3_ENST00000482740.1_Silent_p.G130G			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	348	RCL.				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.G348G(2)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GGATCACAGGGGCCAGGAACC	0.502000													21	30					5.26018e-13	6.50216e-13	1	1	0
FUBP1	8880	broad.mit.edu	37	1	78422351	78422351	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:78422351C>A	ENST00000370767.1	-	17	1698	c.1611G>T	c.(1609-1611)tgG>tgT	p.W537C	FUBP1_ENST00000436586.2_Missense_Mutation_p.W558C|FUBP1_ENST00000370768.2_Missense_Mutation_p.W537C			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	537	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.W537C(2)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATAAGCAGCCCAAGCTGCTG	0.453000			"""F, N"""		oligodendroglioma								93	422					3.77761e-39	6.36355e-39	1	1	0
ZNF99	7652	broad.mit.edu	37	19	22941575	22941575	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:22941575C>G	ENST00000397104.3	-	5	862	c.863G>C	c.(862-864)aGc>aCc	p.S288T	ZNF99_ENST00000596209.1_Missense_Mutation_p.S379T					zinc finger protein 99									p.S288T(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGACAAATTGCTAAAAGCTTT	0.373000													25	113					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21014281	21014281	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:21014281G>A	ENST00000247986.2	-	8	1848	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Missense_Mutation_p.S513F|KIF17_ENST00000375044.1_Missense_Mutation_p.S413F			Q9P2E2	KIF17_HUMAN	kinesin family member 17	513					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.S513F(2)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTGAGTCTTGGAGACATCGTC	0.542000													22	208					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482152	37482152	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:37482152C>A	ENST00000374660.1	+	33	2868	c.2769C>A	c.(2767-2769)gcC>gcA	p.A923A	ANKRD30A_ENST00000361713.1_Silent_p.A804A|ANKRD30A_ENST00000602533.1_Silent_p.A804A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	974						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A804A(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAACTAAAGCCTTAGAATTGA	0.279000													19	58					7.76418e-22	1.11754e-21	1	1	0
ATPIF1	93974	broad.mit.edu	37	1	28564414	28564414	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:28564414G>T	ENST00000335514.5	+	3	297	c.246G>T	c.(244-246)aaG>aaT	p.K82N	ATPIF1_ENST00000497986.1_3'UTR|ATPIF1_ENST00000468425.2_Intron|ATPIF1_ENST00000465645.1_3'UTR	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	82					angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity	p.K82N(2)		lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TTCATCATAAGAAGGAGATTG	0.418000													40	48					1.41504e-22	2.04777e-22	1	1	0
IQGAP1	8826	broad.mit.edu	37	15	90996394	90996394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr15:90996394G>T	ENST00000268182.5	+	13	1481	c.1357G>T	c.(1357-1359)Gca>Tca	p.A453S	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	453					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	p.A453S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCTCTCTGTCGCAGTGGAGAT	0.478000													56	413					5.10508e-28	7.83366e-28	1	1	0
FRAS1	80144	broad.mit.edu	37	4	79296926	79296926	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:79296926G>T	ENST00000264895.6	+	26	3625	c.3185G>T	c.(3184-3186)aGg>aTg	p.R1062M	FRAS1_ENST00000325942.6_Missense_Mutation_p.R1062M	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1061					cell communication	integral to membrane|plasma membrane	metal ion binding	p.R1062I(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCAGCCACAGGGACCGTTGT	0.483000													14	34					8.60227e-14	1.08085e-13	1	1	0
OR6K2	81448	broad.mit.edu	37	1	158669653	158669653	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:158669653A>G	ENST00000359610.2	-	1	833	c.790T>C	c.(790-792)Tct>Cct	p.S264P		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S264P(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TAGGTGGCAGAGAAGCGTAGG	0.478000													193	193					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531706	42531706	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:42531706G>T	ENST00000282030.5	+	4	2697	c.2401G>T	c.(2401-2403)Gag>Tag	p.E801*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	801						nucleus	DNA binding	p.E801*(2)|p.E747*(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAATTTTTCAGAGTTGAAAAC	0.498000									Schinzel-Giedion syndrome				69	146					2.1672e-28	3.34475e-28	1	1	0
OR4A5	81318	broad.mit.edu	37	11	51412283	51412283	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:51412283A>T	ENST00000319760.6	-	1	165	c.113T>A	c.(112-114)gTg>gAg	p.V38E		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V38E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAGGTTCCCCACCACTGTCAC	0.428000													107	119					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1161857	1161857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:1161857C>T	ENST00000356191.2	+	18	1528	c.1528C>T	c.(1528-1530)Cag>Tag	p.Q510*						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GTTCCTGAACCAGATCTACAC	0.672000													2	1					0	0	1	0	0
GOT1L1	137362	broad.mit.edu	37	8	37794885	37794885	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:37794885G>T	ENST00000307599.4	-	4	528	c.429C>A	c.(427-429)ttC>ttA	p.F143L		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	143					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	p.F143L(4)		central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CCATGTCCTGGAAGACGAGTC	0.542000													10	16					5.16669e-11	6.20002e-11	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48618353	48618353	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:48618353G>T	ENST00000328333.8	-	53	5049	c.4942C>A	c.(4942-4944)Ccg>Acg	p.P1648T	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1648T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1648	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.P1648T(2)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCAAACCCGGGTCACCCTGG	0.557000													5	9					0.0215528	0.0219641	1	1	0
TECTA	7007	broad.mit.edu	37	11	120983847	120983847	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:120983847G>C	ENST00000392793.1	+	5	824	c.553G>C	c.(553-555)Gaa>Caa	p.E185Q	TECTA_ENST00000264037.2_Missense_Mutation_p.E185Q			O75443	TECTA_HUMAN	tectorin alpha	185	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.E185Q(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAATTATTACGAAATCAACTG	0.572000											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	29					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1491645	1491645	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:1491645G>T	ENST00000345913.4	+	10	1741	c.1650G>T	c.(1648-1650)caG>caT	p.Q550H	TPO_ENST00000382198.1_Missense_Mutation_p.Q377H|TPO_ENST00000349624.3_Missense_Mutation_p.Q377H|TPO_ENST00000382201.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.Q550H|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.Q550H|TPO_ENST00000337415.3_Missense_Mutation_p.Q550H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	550					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.Q550H(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCAAACTGCAGGTGCAGGATC	0.537000													4	64					2.56e-06	2.85395e-06	1	1	0
TKTL2	84076	broad.mit.edu	37	4	164394546	164394546	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:164394546G>T	ENST00000280605.3	-	1	501	c.341C>A	c.(340-342)cCc>cAc	p.P114H		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	114						cytoplasm	metal ion binding|transketolase activity	p.P114H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CGGCAATCGGGGGGTAGGGTG	0.532000													26	50					4.74835e-14	6.03719e-14	1	1	0
RYR3	6263	broad.mit.edu	37	15	34018617	34018617	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr15:34018617C>A	ENST00000389232.4	+	46	7013	c.6943C>A	c.(6943-6945)Cgc>Agc	p.R2315S	RYR3_ENST00000415757.3_Missense_Mutation_p.R2315S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2315	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2315S(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAGCCATCCGCATCAGGTC	0.552000													8	49					5.50884e-06	6.09052e-06	1	1	0
PPIG	9360	broad.mit.edu	37	2	170493474	170493474	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:170493474G>C	ENST00000260970.3	+	14	1926	c.1706G>C	c.(1705-1707)aGg>aCg	p.R569T	PPIG_ENST00000448752.2_Missense_Mutation_p.R569T|PPIG_ENST00000409714.3_Missense_Mutation_p.R554T	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	569	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R569T(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AGCAGAAGTAGGGACAGAAGC	0.433000													31	200					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86905119	86905119	+	Missense_Mutation	SNP	C	C	A	rs11568388		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:86905119C>A	ENST00000376238.4	-	11	1148	c.1099G>T	c.(1099-1101)Ggg>Tgg	p.G367W	SLC28A3_ENST00000537648.1_Missense_Mutation_p.G298W	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	367			G -> R (reduced transport of inosine and thymidine).		nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	p.G367W(2)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GTAGAGAACCCGGCGGTCATG	0.458000													40	168					8.77104e-35	1.44115e-34	1	1	0
SPON1	10418	broad.mit.edu	37	11	14284462	14284462	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:14284462C>A	ENST00000310358.7	+	0	2736				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	p.A733D(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TGGAGGGAGGCCCGAGAGAGC	0.582000													42	11					3.4345e-17	4.6197e-17	1	1	0
FAT4	79633	broad.mit.edu	37	4	126242381	126242381	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:126242381C>A	ENST00000394329.3	+	1	4828	c.4815C>A	c.(4813-4815)gaC>gaA	p.D1605E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1605	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D1605E(4)		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						CAGCAACAGACCTTGGGCCTG	0.433000													56	145					3.10202e-16	4.06997e-16	1	1	0
MSH2	4436	broad.mit.edu	37	2	47656893	47656893	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:47656893G>T	ENST00000406134.1	+	7	1151	c.1089G>T	c.(1087-1089)gtG>gtT	p.V363V	MSH2_ENST00000233146.2_Silent_p.V363V|MSH2_ENST00000543555.1_Silent_p.V297V			P43246	MSH2_HUMAN	mutS homolog 2	363					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)|p.V363V(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAATTTAGTGGAAGCTTTTG	0.303000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	40					0.000442599	0.000469877	1	1	0
CARD16	114769	broad.mit.edu	37	11	104912157	104912157	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:104912157C>A	ENST00000375706.2	-	3	581	c.564G>T	c.(562-564)gaG>gaT	p.E188D	CASP1_ENST00000415981.2_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000598974.1_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16									p.E188D(2)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						CAGTTTGCAACTCTTTACCTA	0.383000													39	99					6.27289e-28	9.59806e-28	1	1	0
BTN2A3P	54718	broad.mit.edu	37	6	26428332	26428332	+	RNA	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:26428332C>T	ENST00000466808.2	+	0	1301																											GTAAAAGAggccaggtatggt	0.463000													10	31					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755798	10755798	+	Silent	SNP	C	C	A	rs61745501	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:10755798C>A	ENST00000416569.2	-	3	1616	c.1590G>T	c.(1588-1590)gcG>gcT	p.A530A	XKR6_ENST00000304437.2_Silent_p.A251A	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	530						integral to membrane		p.A530A(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGATCTCAGGCGCCATGGGCT	0.612000													38	75					1.41504e-22	2.04777e-22	1	1	0
COL3A1	1281	broad.mit.edu	37	2	189849653	189849653	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:189849653G>A	ENST00000304636.3	+	2	417	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E83K	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	83	VWFC.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.E83K(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCATTTGGAGAATGTTGTGC	0.398000													6	73					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97052115	97052115	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:97052115T>C	ENST00000524981.3	+	5	804	c.804T>C	c.(802-804)taT>taC	p.Y268Y				Q6ZTY8	CL063_HUMAN		242								p.Y242Y(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGGCTGAATATGGAGAGAAGG	0.378000													52	322					0	0	1	0	0
SLC45A2	51151	broad.mit.edu	37	5	33954552	33954552	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:33954552G>A	ENST00000382102.3	-	4	1003	c.946C>T	c.(946-948)Cac>Tac	p.H316Y	SLC45A2_ENST00000345083.5_Missense_Mutation_p.H208Y|SLC45A2_ENST00000342059.3_Missense_Mutation_p.H257Y|SLC45A2_ENST00000509381.1_Missense_Mutation_p.S207L|SLC45A2_ENST00000296589.4_Missense_Mutation_p.H316Y	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	316					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.H316Y(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TAGCGGTAGTGAGGAGGCATG	0.478000													74	126					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51135683	51135683	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:51135683C>T	ENST00000338916.4	-	2	1167	c.534G>A	c.(532-534)ggG>ggA	p.G178G	SYT3_ENST00000600079.1_Silent_p.G178G|SYT3_ENST00000593901.1_Silent_p.G178G|SYT3_ENST00000544769.1_Silent_p.G178G	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	178						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.G178G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCGGTTTGACCCCAGCGGCCA	0.667000													4	8					0	0	1	0	0
GPR12	2835	broad.mit.edu	37	13	27333071	27333071	+	Silent	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:27333071A>G	ENST00000405846.3	-	2	1115	c.894T>C	c.(892-894)ccT>ccC	p.P298P	GPR12_ENST00000381436.2_Silent_p.P298P	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	298						integral to plasma membrane		p.P298P(2)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CATATATGACAGGGTTGATGA	0.542000													10	55					0	0	1	0	0
RPL17-C18orf32	100526842	broad.mit.edu	37	18	47015750	47015750	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:47015750C>A	ENST00000584895.1	-	5	500	c.486G>T	c.(484-486)gaG>gaT	p.E162D	RPL17_ENST00000580261.1_Missense_Mutation_p.E162D|RPL17_ENST00000579248.1_Missense_Mutation_p.E162D|RPL17_ENST00000581373.1_Missense_Mutation_p.E124D|RPL17_ENST00000580210.1_Missense_Mutation_p.E152D|RPL17_ENST00000579408.1_Missense_Mutation_p.E162D|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.E124D|RPL17_ENST00000418495.1_Missense_Mutation_p.E162D|MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000581091.1_5'UTR	NM_001199355.1|NM_001199356.1	NP_001186284.1|NP_001186285.1												p.E162D(8)									GGGCAACCTCCTCTTCTGGTT	0.428000													27	54					1.15505e-17	1.56151e-17	1	1	0
DGCR5	26220	broad.mit.edu	37	22	19002009	19002009	+	RNA	SNP	G	G	T	rs56157180	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:19002009G>T	ENST00000440005.2	+	0	828				DGCR5_ENST00000424407.1_RNA																							ACAAATCCAAGATTAGCACAG	0.458000													3	49					0.115264	0.116134	1	1	0
TPTE2P6	374491	broad.mit.edu	37	13	25168463	25168463	+	RNA	SNP	T	T	C	rs61946940		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:25168463T>C	ENST00000453498.1	+	0	1135																											TGACAGTCCATCTCTGTACGA	0.363000													4	126					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	362338	362338	+	Silent	SNP	G	G	A	rs145779146	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:362338G>A	ENST00000342640.4	-	8	1044	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P	THEG_ENST00000346878.2_Silent_p.P310P	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	334					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.P334P(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGATGATCCGGGGGCTGGCCA	0.622000													4	64					0	0	1	0	0
TSLP	85480	broad.mit.edu	37	5	110407688	110407688	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:110407688T>A	ENST00000420978.2	+	2	1522	c.100T>A	c.(100-102)Tgt>Agt	p.C34S	TSLP_ENST00000344895.3_Missense_Mutation_p.C34S			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	34						extracellular space	cytokine activity	p.C34S(2)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTTCACTAACTGTGACTTTGA	0.348000													87	130					0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133364724	133364724	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:133364724C>G	ENST00000372394.1	+	13	1324	c.843C>G	c.(841-843)atC>atG	p.I281M	ASS1_ENST00000372393.3_Missense_Mutation_p.I281M|ASS1_ENST00000352480.5_Missense_Mutation_p.I281M|ASS1_ENST00000493984.2_3'UTR			P00966	ASSY_HUMAN	argininosuccinate synthase 1	281					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	p.I281M(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GGCTAGGTATCTACGAGACCC	0.448000													11	36					0	0	1	0	0
HAUS7	55559	broad.mit.edu	37	X	152721086	152721086	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:152721086C>G	ENST00000370219.3	-	8	1431	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	TREX2_ENST00000334497.2_5'UTR|TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000421080.2_Silent_p.A113A|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.E292Q|HAUS7_ENST00000370211.4_Missense_Mutation_p.E282Q	NM_017518.6	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	292					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	p.E292Q(2)|p.E292*(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						TGGCAGCACTCGCCCAGCTCG	0.602000													34	16					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28880415	28880415	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:28880415C>T	ENST00000337120.5	+	3	4421	c.1130C>T	c.(1129-1131)cCa>cTa	p.P377L	SH2B1_ENST00000359285.5_Missense_Mutation_p.P377L|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.P377L|SH2B1_ENST00000545570.1_Missense_Mutation_p.P67L|SH2B1_ENST00000395532.4_Missense_Mutation_p.P377L|SH2B1_ENST00000538342.1_Missense_Mutation_p.P41L	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	377	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.P377L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TGCCTGAGCCCAGGGTGAGAA	0.557000													6	113					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141267498	141267498	+	Splice_Site	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:141267498G>A	ENST00000389484.3	-	52	9368	c.8398_splice	c.e52+1	p.C2799_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2799	LDL-receptor class A 17.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C2799C(2)		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)		TGTTCATACCGCAGCCTGCTG	0.507000										TSP Lung(27;0.18)			41	207					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179396279	179396279	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:179396279G>A	ENST00000589042.1	-	358	105287	c.105063C>T	c.(105061-105063)ggC>ggT	p.G35021G	TTN_ENST00000359218.5_Silent_p.G26081G|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Silent_p.G32453G|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000342175.6_Silent_p.G26148G|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.G25956G|TTN_ENST00000591111.1_Silent_p.G33380G|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33380							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G26081G(1)|p.G26148G(1)|p.G32451G(1)|p.G25956G(1)|p.G32453G(1)		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)			CAGAAGCTTCGCCCTTGTAGT	0.507000													17	181					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168471	25168471	+	RNA	SNP	C	C	T	rs61946941	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:25168471C>T	ENST00000453498.1	+	0	1143																											CATCTCTGTACGATGATGTGA	0.358000													7	127					0	0	1	0	0
ARF5	381	broad.mit.edu	37	7	127231266	127231266	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:127231266G>T	ENST00000000233.5	+	6	610		c.e6-1		GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5						protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	p.?(2)		cervix(2)|kidney(1)|lung(10)|ovary(1)	14						TTTCCCCACAGTGGTATGTCC	0.552000													6	5					2.17888e-05	2.38426e-05	1	1	0
TMEM81	388730	broad.mit.edu	37	1	205053311	205053311	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:205053311G>A	ENST00000367167.3	-	1	334	c.138C>T	c.(136-138)gcC>gcT	p.A46A		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	46						integral to membrane		p.A46A(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TACAGGTTGTGGCATTGATGA	0.532000													43	226					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161576140	161576140	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:161576140A>G	ENST00000356592.3	+	8	1409	c.949A>G	c.(949-951)Acc>Gcc	p.T317A	GABRG2_ENST00000414552.2_Missense_Mutation_p.T357A|GABRG2_ENST00000393933.4_Missense_Mutation_p.T222A|GABRG2_ENST00000361925.4_Missense_Mutation_p.T317A	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	317					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.T317A(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GACAATGACCACCCTCAGCAC	0.463000													14	363					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745809	77745809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:77745809G>T	ENST00000409088.3	-	3	1600	c.1186C>A	c.(1186-1188)Caa>Aaa	p.Q396K	LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q397K|LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q397K|LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q396K|LRRTM4_ENST00000409093.1_Missense_Mutation_p.Q396K	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	396						integral to membrane		p.Q396K(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGGTGGATTGGGTGACGTCA	0.493000													8	103					0.000673444	0.000712117	1	1	0
ZNF607	84775	broad.mit.edu	37	19	38198822	38198822	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:38198822C>A	ENST00000355202.4	-	4	823	c.228G>T	c.(226-228)gaG>gaT	p.E76D	CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.E76D|ZNF607_ENST00000395835.3_Missense_Mutation_p.E75D	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E76D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TACCTGTACACTCTCCTCTTG	0.443000													39	95					4.17463e-26	6.26194e-26	1	1	0
GAS2L2	246176	broad.mit.edu	37	17	34073054	34073054	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:34073054G>C	ENST00000254466.6	-	6	1489	c.1462C>G	c.(1462-1464)Cca>Gca	p.P488A	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P472A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	488					cell cycle arrest	cytoplasm|cytoskeleton		p.P488A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAGACTCTGGCTCCCTGAAC	0.642000													7	4					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744233	140744233	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:140744233C>G	ENST00000518069.1	+	1	336	c.336C>G	c.(334-336)aaC>aaG	p.N112K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.N112K(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTTGAGAACAAAATGAAAA	0.443000													5	10					0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161130698	161130698	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:161130698C>T	ENST00000368002.3	+	3	645	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	USP21_ENST00000368001.1_Silent_p.L90L|USP21_ENST00000289865.8_Silent_p.L90L	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	90					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L90L(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGGGGTTCCCCTGCCTGGCTC	0.622000													4	24					0	0	1	0	0
AZI2	64343	broad.mit.edu	37	3	28381959	28381959	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:28381959T>C	ENST00000479665.1	-	2	681	c.150A>G	c.(148-150)aaA>aaG	p.K50K	AZI2_ENST00000457172.1_Silent_p.K50K|AZI2_ENST00000420543.2_Silent_p.K50K|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000334100.6_Silent_p.K50K	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	50						mitochondrion|plasma membrane		p.K50K(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTTAAGTCGTTTTTTGATGT	0.343000													15	20					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50326124	50326124	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:50326124C>A	ENST00000436390.1	-	13	1539	c.1042G>T	c.(1042-1044)Gag>Tag	p.E348*	IFRD2_ENST00000417626.2_Nonsense_Mutation_p.E348*|IFRD2_ENST00000336089.4_Nonsense_Mutation_p.E514*|IFRD2_ENST00000429673.2_Nonsense_Mutation_p.E412*			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	412							binding	p.E514*(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CGCACTATCTCTTCTTCGCAT	0.582000													7	16					0.000274275	0.000291759	1	1	0
PIANP	196500	broad.mit.edu	37	12	6804697	6804697	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:6804697G>A	ENST00000534837.1	-	5	955	c.726C>T	c.(724-726)ttC>ttT	p.F242F	PIANP_ENST00000320591.5_Silent_p.F242F|PIANP_ENST00000540656.1_Silent_p.F242F	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein									p.F242F(2)									GTGAGTCCCCGAAGGCCCCCA	0.692000													3	26					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605172	171605172	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:171605172G>A	ENST00000037502.5	-	3	1467	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	470	Olfactomedin-like.		R -> C (in GLC1A).|R -> H.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.R470C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TACTTATAGCGGTTCTTGAAT	0.488000													125	496					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1459915	1459915	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:1459915C>A	ENST00000345913.4	+	7	771	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	TPO_ENST00000382198.1_Missense_Mutation_p.S227Y|TPO_ENST00000349624.3_Missense_Mutation_p.S227Y|TPO_ENST00000382201.3_Missense_Mutation_p.S227Y|TPO_ENST00000346956.3_Missense_Mutation_p.S227Y|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.S227Y|TPO_ENST00000337415.3_Missense_Mutation_p.S227Y	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	227					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.S227Y(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACCGCTATTCTGACCTCCTG	0.537000													14	32					2.31682e-05	2.53003e-05	1	1	0
PCDH17	27253	broad.mit.edu	37	13	58207122	58207122	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:58207122G>T	ENST00000377918.3	+	1	468	c.442G>T	c.(442-444)Ggc>Tgc	p.G148C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	148	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.G148C(2)		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)		CGCTGCTCCGGGCACCCGCTT	0.617000													6	8					2.0095e-06	2.24492e-06	1	1	0
PIWIL1	9271	broad.mit.edu	37	12	130833803	130833803	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:130833803T>A	ENST00000245255.3	+	8	1026	c.754T>A	c.(754-756)Ttc>Atc	p.F252I		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	252					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.F252I(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTGGCCTGGCTTCACTACTTC	0.438000													5	105					0	0	1	0	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078030	90078030	+	RNA	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:90078030G>T	ENST00000390270.2	+	0	164																											CGGAGAAATTGTGTTGACGCA	0.488000													56	114					1.43987e-31	2.28836e-31	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88886197	88886197	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:88886197C>A	ENST00000319675.3	-	1	99	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	1								p.M1I(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTTTGCTCTCCATTTCGTTCG	0.522000													32	47					2.80507e-11	3.38128e-11	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23527675	23527675	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:23527675C>A	ENST00000296682.3	+	11	2660	c.2478C>A	c.(2476-2478)caC>caA	p.H826Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	826					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.H826Q(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAGGACACACACAGGGGAGA	0.582000										HNSCC(3;0.000094)			95	355					4.12803e-41	7.02028e-41	1	1	0
PLIN4	729359	broad.mit.edu	37	19	4513206	4513206	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:4513206C>T	ENST00000301286.3	-	3	723	c.724G>A	c.(724-726)Ggt>Agt	p.G242S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	242	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.G170S(1)|p.G242S(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTGTCCACACCGGTCTGAATG	0.572000													3	43					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779674	31779674	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:31779674C>G	ENST00000375654.4	-	2	265	c.76G>C	c.(76-78)Ggc>Cgc	p.G26R	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G26R	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	26					response to unfolded protein		ATP binding	p.G26R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TCCACCTTGCCGTGCTGGAAC	0.607000													18	76					0	0	1	0	0
SLC25A18	83733	broad.mit.edu	37	22	18069984	18069984	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:18069984C>A	ENST00000327451.5	+	8	1030	c.492C>A	c.(490-492)ccC>ccA	p.P164P	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Silent_p.P164P	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	164						integral to membrane|mitochondrial inner membrane	binding|symporter activity	p.P164P(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	ACAGGCGCCCCTCTGCCACCC	0.652000													8	116					5.18039e-06	5.7512e-06	1	1	0
LZTS1	11178	broad.mit.edu	37	8	20112440	20112440	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:20112440G>T	ENST00000381569.1	-	2	610	c.253C>A	c.(253-255)Ctg>Atg	p.L85M	LZTS1_ENST00000522290.1_Missense_Mutation_p.L85M|LZTS1_ENST00000265801.6_Missense_Mutation_p.L85M			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	85					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L85M(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCGCTGGACAGTGCCGTGTAA	0.577000													8	13					0.00307968	0.00322461	1	1	0
LAX1	54900	broad.mit.edu	37	1	203743435	203743435	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:203743435G>T	ENST00000442561.2	+	5	1213	c.823G>T	c.(823-825)Gat>Tat	p.D275Y	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.D259Y	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	275					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.D275Y(2)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GACAGGGTTGGATCTCAGTGC	0.493000													7	82					1.12685e-05	1.23814e-05	1	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28296390	28296390	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr21:28296390G>T	ENST00000284987.5	-	8	2896	c.2775C>A	c.(2773-2775)tgC>tgA	p.C925*	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	925	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.C925*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCTTCAACAAGCATTGCTTAA	0.478000													38	129					1.15183e-24	1.70855e-24	1	1	0
E2F3	1871	broad.mit.edu	37	6	20488470	20488470	+	Missense_Mutation	SNP	G	G	A	rs147333935	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:20488470G>A	ENST00000346618.3	+	6	1192	c.1126G>A	c.(1126-1128)Gct>Act	p.A376T	E2F3_ENST00000535432.1_Missense_Mutation_p.A245T	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	376					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.A376T(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CCCTAAACCCGCTTCCAAAGG	0.408000													4	100					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118968566	118968566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:118968566G>T	ENST00000515256.1	+	2	366	c.194G>T	c.(193-195)cGc>cTc	p.R65L				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	65						intracellular	zinc ion binding	p.R65L(4)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TCTTCTTCACGCAAGCTCATC	0.557000													128	133					8.32301e-65	1.55402e-64	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139151256	139151256	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:139151256A>T	ENST00000395297.1	-	18	4044	c.3874T>A	c.(3874-3876)Ttc>Atc	p.F1292I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1292								p.F1292I(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGTAGAGGAAACATTTGCGC	0.448000										HNSCC(54;0.14)			56	179					0	0	1	0	0
ACTA2	59	broad.mit.edu	37	10	90699439	90699439	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:90699439G>T	ENST00000458208.1	-	7	1107	c.633C>A	c.(631-633)gtC>gtA	p.V211V	STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Silent_p.V211V|ACTA2-AS1_ENST00000596007.1_RNA|ACTA2-AS1_ENST00000437930.3_RNA	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	211					response to virus	cytosol	ATP binding	p.V211V(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TGATGTCCCGGACAATCTCAC	0.498000													25	90					7.38237e-10	8.64514e-10	1	1	0
PKNOX2	63876	broad.mit.edu	37	11	125300031	125300031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:125300031C>A	ENST00000298282.9	+	12	1457	c.1186C>A	c.(1186-1188)Ccc>Acc	p.P396T	PKNOX2_ENST00000542175.1_Missense_Mutation_p.P332T|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	396						nucleus	sequence-specific DNA binding transcription factor activity	p.P396T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AGGGACAAACCCCGATGGTAA	0.602000													9	31					9.05144e-12	1.09852e-11	1	1	0
OXGR1	27199	broad.mit.edu	37	13	97639260	97639260	+	Missense_Mutation	SNP	C	C	A	rs144457939		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:97639260C>A	ENST00000298440.1	-	4	997	c.754G>T	c.(754-756)Gta>Tta	p.V252L	OXGR1_ENST00000543457.1_Missense_Mutation_p.V252L	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	252						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.V252L(2)|p.V252I(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AAAAAACATACGTAAAATGCA	0.438000													65	186					5.45122e-27	8.26975e-27	1	1	0
CDHR4	389118	broad.mit.edu	37	3	49836271	49836271	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:49836271G>T	ENST00000343366.4	-	3	581	c.559C>A	c.(559-561)Cca>Aca	p.P187T	CDHR4_ENST00000412678.2_Silent_p.L161L|CDHR4_ENST00000487256.1_Silent_p.L161L			A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L161L(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GCGCTCCGTGGAGTTCTAGGC	0.612000													4	8					3.59834e-05	3.8897e-05	1	1	0
TBCD	6904	broad.mit.edu	37	17	80726316	80726316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:80726316G>T	ENST00000355528.4	+	5	586	c.456G>T	c.(454-456)atG>atT	p.M152I	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.M152I	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	152					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	p.M152I(2)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCCGCTACATGCTTTTGCTCT	0.498000													59	51					1.20111e-47	2.08923e-47	1	1	0
ZNF326	284695	broad.mit.edu	37	1	90470716	90470716	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:90470716G>T	ENST00000340281.4	+	4	265	c.122G>T	c.(121-123)gGa>gTa	p.G41V	ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000370447.2_Missense_Mutation_p.G41V|ZNF326_ENST00000361911.5_Missense_Mutation_p.G41V	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	41	Gly-rich.|Mediates transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	p.G41V(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TATGGCCATGGATCCTATGGG	0.408000													130	116					7.97313e-81	1.54824e-80	1	1	0
LRRC47	57470	broad.mit.edu	37	1	3703627	3703627	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:3703627T>A	ENST00000378251.1	-	2	890	c.863A>T	c.(862-864)aAg>aTg	p.K288M		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	288					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		ccgcctctgcttcctctccct	0.672000													2	2					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835561	247835561	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:247835561G>C	ENST00000359688.2	-	1	804	c.783C>G	c.(781-783)tcC>tcG	p.S261S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S261S(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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)			ATGTATAGCTGGAAGCAGGGC	0.463000													135	178					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33457284	33457284	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:33457284G>A	ENST00000305768.4	-	2	216	c.128C>T	c.(127-129)cCa>cTa	p.P43L	CEP89_ENST00000590597.1_Missense_Mutation_p.P43L	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	43						centrosome|spindle pole		p.P43L(2)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTCTGGAGATGGGTTGGGGCT	0.572000													49	78					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207470	58207470	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:58207470G>T	ENST00000377918.3	+	1	816	c.790G>T	c.(790-792)Gat>Tat	p.D264Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	264	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.D264Y(2)		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)		AGTGGTCATCGATCTGAACGC	0.587000													11	34					1.36491e-13	1.71094e-13	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117486760	117486760	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:117486760A>T	ENST00000355044.3	+	27	3924	c.3798A>T	c.(3796-3798)caA>caT	p.Q1266H	ATRNL1_ENST00000423111.2_Missense_Mutation_p.Q317H|ATRNL1_ENST00000303745.7_Missense_Mutation_p.Q59H	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1266						integral to membrane	sugar binding	p.Q1266H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCCTCCAGCAACTGCTTCGAG	0.428000													25	79					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28893606	28893606	+	Missense_Mutation	SNP	G	G	T	rs116034414	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:28893606G>T	ENST00000282397.4	-	24	3491	c.3240C>A	c.(3238-3240)agC>agA	p.S1080R	FLT1_ENST00000540678.1_Missense_Mutation_p.S298R|FLT1_ENST00000543394.1_Missense_Mutation_p.S103R	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1080	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.S1080R(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ACCACACGTCGCTCTTGGTGC	0.463000													19	47					6.44725e-10	7.58333e-10	1	1	0
TIMMDC1	51300	broad.mit.edu	37	3	119222382	119222382	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:119222382T>G	ENST00000494664.1	+	3	566	c.364T>G	c.(364-366)Tct>Gct	p.S122A	TIMMDC1_ENST00000493694.1_Intron	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	122						integral to membrane|mitochondrial inner membrane	protein transporter activity	p.S122A(2)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ACTTTAGCAATCTGCACATCG	0.418000													13	47					0	0	1	0	0
LCP2	3937	broad.mit.edu	37	5	169697832	169697832	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:169697832G>T	ENST00000046794.5	-	7	1029	c.414C>A	c.(412-414)ccC>ccA	p.P138P		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	138					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	p.P138P(6)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CATCTTCCACGGGTGCCTCTT	0.547000													34	88					9.8876e-21	1.40425e-20	1	1	0
SCN5A	6331	broad.mit.edu	37	3	38622447	38622447	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:38622447C>A	ENST00000413689.1	-	17	3396	c.3203G>T	c.(3202-3204)gGc>gTc	p.G1068V	SCN5A_ENST00000455624.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1068V|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1068V|SCN5A_ENST00000414099.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1068V|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1068V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1068					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.G1068V(4)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCCTCCGTGCCCAGGCTGTT	0.632000													19	28					3.62473e-10	4.27286e-10	1	1	0
AKAP6	9472	broad.mit.edu	37	14	33242894	33242894	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:33242894G>A	ENST00000280979.4	+	12	3553	c.3383G>A	c.(3382-3384)cGt>cAt	p.R1128H	AKAP6_ENST00000557272.1_Missense_Mutation_p.R1128H	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1128					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.R1128H(2)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCCCTCTGTCGTGAAATCAAG	0.448000													71	775					0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705328	41705328	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:41705328C>A	ENST00000379485.1	-	1	1554	c.1320G>T	c.(1318-1320)ttG>ttT	p.L440F	KBTBD6_ENST00000499385.2_Missense_Mutation_p.L374F	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	440							protein binding	p.L440F(2)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTCGCCCCCCCAAAATGTAGA	0.473000													44	304					7.77372e-23	1.14043e-22	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	76975867	76975867	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:76975867G>T	ENST00000409911.1	-	3	1953	c.1730C>A	c.(1729-1731)gCc>gAc	p.A577D	LRRTM4_ENST00000409884.1_Missense_Mutation_p.A576D|LRRTM4_ENST00000409093.1_Missense_Mutation_p.A576D	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	576						integral to membrane		p.A576E(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGCCGACCTGGCGATGGTGGC	0.612000													62	222					2.55378e-55	4.54573e-55	1	1	0
ZNF680	340252	broad.mit.edu	37	7	64004155	64004155	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:64004155C>G	ENST00000309683.6	-	3	334	c.183G>C	c.(181-183)ctG>ctC	p.L61L	ZNF680_ENST00000476563.1_5'UTR|ZNF680_ENST00000447137.2_Silent_p.L61L	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L61L(2)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				AACAGGTTATCAGGTGAGGCT	0.398000													93	161					0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137816623	137816623	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:137816623C>T	ENST00000327532.2	-	3	930	c.568G>A	c.(568-570)Gca>Aca	p.A190T	DZIP1L_ENST00000469243.1_Missense_Mutation_p.A190T	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	190						intracellular	zinc ion binding	p.A190T(2)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						gccacgcctgcatgcctgcgc	0.577000											OREG0015831	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	41					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534270	92534270	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:92534270C>G	ENST00000298047.6	+	9	8108	c.8091C>G	c.(8089-8091)caC>caG	p.H2697Q	FAT3_ENST00000525166.1_Missense_Mutation_p.H2547Q|FAT3_ENST00000409404.2_Missense_Mutation_p.H2697Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2697	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.H2697Q(4)		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)				TCTATATCCACGTCTTGCCCC	0.458000										TCGA Ovarian(4;0.039)			50	66					0	0	1	0	0
PMS2CL	441194	broad.mit.edu	37	7	6776956	6776956	+	RNA	SNP	A	A	G	rs7804542	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:6776956A>G	ENST00000486256.1	+	0	1083					NR_002217.1																						ATCTCTGACAAAGGCGTCCTG	0.557000													5	123					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197024971	197024971	+	Missense_Mutation	SNP	C	C	A	rs144134146	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:197024971C>A	ENST00000367412.1	-	8	1271	c.1228G>T	c.(1228-1230)Ggg>Tgg	p.G410W		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	410	Sushi 7.				blood coagulation	extracellular region		p.G410W(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GCCAATATCCCGTCTGCAACA	0.363000													167	139					7.53197e-71	1.42627e-70	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52320977	52320977	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:52320977G>T	ENST00000356297.4	-	17	3307	c.3207C>A	c.(3205-3207)gcC>gcA	p.A1069A	PXDNL_ENST00000543296.1_Silent_p.A1069A	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1069					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.A1069A(2)|p.A268A(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACCTAAGGTGGCATTCAGTC	0.468000													7	10					0.00621372	0.00644296	1	1	0
TGM5	9333	broad.mit.edu	37	15	43552761	43552761	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr15:43552761G>A	ENST00000220420.5	-	2	34	c.27C>T	c.(25-27)ctC>ctT	p.L9L	TGM5_ENST00000349114.4_Silent_p.L9L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	9					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.L9L(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGAGGTCTGTGAGGGCCACTT	0.562000													79	131					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78195558	78195558	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:78195558C>A	ENST00000370793.1	-	10	1143	c.797G>T	c.(796-798)gGg>gTg	p.G266V	USP33_ENST00000370794.3_Missense_Mutation_p.G235V|USP33_ENST00000357428.1_Missense_Mutation_p.G266V|USP33_ENST00000370792.3_Missense_Mutation_p.G266V	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	266					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.G266V(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CTGAGAATACCCCCGAAATGT	0.318000													25	165					1.45844e-13	1.81117e-13	1	1	0
KANSL3	55683	broad.mit.edu	37	2	97274401	97274401	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:97274401C>A	ENST00000599854.1	-	14	1791	c.1323_splice	c.e14-1	p.D442_splice	KANSL3_ENST00000431828.1_Splice_Site_p.D529_splice|KANSL3_ENST00000441706.2_Splice_Site_p.D442_splice|KANSL3_ENST00000440133.1_Splice_Site_p.D323_splice|KANSL3_ENST00000487070.1_5'UTR	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	529								p.D529Y(2)									CTGGAGAGATCCTGAGTAAGG	0.517000													75	188					2.32385e-29	3.60737e-29	1	1	0
ZNF135	7694	broad.mit.edu	37	19	58579729	58579729	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:58579729G>A	ENST00000506786.1	+	5	2305	c.1751G>A	c.(1750-1752)aGg>aAg	p.R584K	ZNF135_ENST00000313434.5_Missense_Mutation_p.R626K|ZNF135_ENST00000511556.1_Missense_Mutation_p.R638K|ZNF135_ENST00000439855.2_Missense_Mutation_p.R626K|ZNF135_ENST00000401053.4_Missense_Mutation_p.R650K|ZNF135_ENST00000359978.6_Intron			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	638					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R650K(2)|p.R626K(2)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAGCACCGGAGGATCCACACA	0.547000													9	73					0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22969320	22969320	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:22969320G>A	ENST00000356864.3	+	2	680	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	TNFRSF10C_ENST00000520607.1_3'UTR|TNFRSF10C_ENST00000540813.1_Intron	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	50					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity	p.G50R(1)		endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CAGCTTCAAGGGGGAGGAGTG	0.463000													18	83					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975866	76975866	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:76975866G>T	ENST00000409911.1	-	3	1954	c.1731C>A	c.(1729-1731)gcC>gcA	p.A577A	LRRTM4_ENST00000409884.1_Silent_p.A576A|LRRTM4_ENST00000409093.1_Silent_p.A576A	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	576						integral to membrane		p.A576E(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTGCCGACCTGGCGATGGTGG	0.607000													61	225					1.54771e-57	2.78276e-57	1	1	0
SEC31B	25956	broad.mit.edu	37	10	102249075	102249075	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:102249075G>C	ENST00000370345.3	-	23	3202	c.3105C>G	c.(3103-3105)ccC>ccG	p.P1035P		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1035	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		p.P1035P(2)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GGGGCTGTGAGGGAAGAATCC	0.537000													8	31					0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157737060	157737060	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:157737060C>A	ENST00000361516.3	-	6	1171	c.1123G>T	c.(1123-1125)Ggg>Tgg	p.G375W	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.G375W|FCRL2_ENST00000469986.1_Missense_Mutation_p.G122W	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	375	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	p.G375W(2)|p.G122W(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACTGGGCCCCCAGGCCGTTG	0.577000													229	280					5.13329e-129	1.04227e-128	1	1	0
ZIC2	7546	broad.mit.edu	37	13	100637593	100637593	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:100637593C>T	ENST00000376335.3	+	3	1549	c.1256C>T	c.(1255-1257)cCg>cTg	p.P419L	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	419					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P419L(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGTCCTCCCCGCAGGGCTCT	0.711000													3	2					0	0	1	0	0
DYM	54808	broad.mit.edu	37	18	46858254	46858254	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:46858254C>A	ENST00000269445.6	-	8	1200	c.743G>T	c.(742-744)gGa>gTa	p.G248V	DYM_ENST00000578396.1_Missense_Mutation_p.G93V|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	248						Golgi apparatus		p.G248V(2)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TGATGCAAGTCCATAAAGCAG	0.398000													22	148					1.77063e-15	2.30053e-15	1	1	0
TRIM69	140691	broad.mit.edu	37	15	45052015	45052015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr15:45052015C>A	ENST00000558173.1	+	4	5039	c.294C>A	c.(292-294)taC>taA	p.Y98*	TRIM69_ENST00000561043.1_Nonsense_Mutation_p.Y65*|TRIM69_ENST00000558329.1_Nonsense_Mutation_p.Y81*|TRIM69_ENST00000559390.1_Nonsense_Mutation_p.Y302*|TRIM69_ENST00000329464.4_Nonsense_Mutation_p.Y302*|TRIM69_ENST00000338264.4_Nonsense_Mutation_p.Y143*|TRIM69_ENST00000560442.1_Nonsense_Mutation_p.Y98*			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	302	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding	p.Y302*(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TGGGCCAGTACAAAGGTCCTA	0.473000													40	336					5.44703e-19	7.49668e-19	1	1	0
ZC3H11A	9877	broad.mit.edu	37	1	203821508	203821508	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:203821508C>G	ENST00000545588.1	+	17	6241	c.2414C>G	c.(2413-2415)tCa>tGa	p.S805*	ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	805							nucleic acid binding|protein binding|zinc ion binding	p.S805*(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTGAGCTATCAGAAATGATT	0.378000													3	46					0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28210368	28210368	+	Missense_Mutation	SNP	G	G	A	rs149580995	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr21:28210368G>A	ENST00000284984.2	-	9	2888	c.2434C>T	c.(2434-2436)Cgc>Tgc	p.R812C		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	812	Spacer.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.R812C(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CTAAAGCTGCGAATTCTTTCC	0.448000													3	41					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106135	55106135	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:55106135C>T	ENST00000453777.1	+	4	246	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.L26F|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	26					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.L26F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCCAGGGACCCTCCCCAAGCC	0.587000													39	49					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196683021	196683021	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:196683021G>A	ENST00000367429.4	+	10	1733	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	498	Sushi 8.				complement activation, alternative pathway	extracellular space		p.G498E(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGGAAAGATGGATGGTCAGCT	0.333000													31	195					0	0	1	0	0
TBC1D7	51256	broad.mit.edu	37	6	13321220	13321220	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:13321220C>A	ENST00000607658.1	-	3	370	c.220G>T	c.(220-222)Gcc>Tcc	p.A74S	TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000379300.3_Missense_Mutation_p.A101S|TBC1D7_ENST00000356436.4_Missense_Mutation_p.A101S|TBC1D7_ENST00000379307.2_Missense_Mutation_p.A74S|TBC1D7_ENST00000343141.4_Missense_Mutation_p.A101S			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	101	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	p.A101S(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			TGAGGTGTGGCATCACTAACA	0.502000													218	330					5.16255e-81	1.00613e-80	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70226056	70226056	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:70226056C>A	ENST00000310961.5	+	4	602	c.184C>A	c.(184-186)Caa>Aaa	p.Q62K	LRRC7_ENST00000035383.5_Missense_Mutation_p.Q57K|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.Q95K			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	57						centrosome|focal adhesion|nucleolus	protein binding	p.Q95K(2)|p.Q57K(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGATGCCAATCAAATTGAAGA	0.338000													36	240					1.41504e-22	2.04777e-22	1	1	0
OTUD6A	139562	broad.mit.edu	37	X	69282458	69282458	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:69282458C>G	ENST00000338352.2	+	1	118	c.84C>G	c.(82-84)agC>agG	p.S28R		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	28								p.S28R(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGATCCGGAGCTTAAAAAACT	0.582000													5	1					0	0	1	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442329	89442329	+	RNA	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:89442329G>T	ENST00000492167.1	-	0	127																											CCTGGAGACTGCGTCAACACA	0.498000													28	210					8.4185e-14	1.06276e-13	1	1	0
GPR151	134391	broad.mit.edu	37	5	145895383	145895383	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:145895383C>T	ENST00000311104.2	-	1	370	c.294G>A	c.(292-294)gcG>gcA	p.A98A		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	98						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A98A(3)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTGGAGTACGCCGTAGCTC	0.512000													37	144					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089844	9089844	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:9089844C>A	ENST00000397910.4	-	1	2174	c.1971G>T	c.(1969-1971)aaG>aaT	p.K657N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	657	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.K657N(4)		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						CAGCAGCCGTCTTGCTCACTG	0.532000													126	886					4.95938e-57	8.88695e-57	1	1	0
SNTG1	54212	broad.mit.edu	37	8	51351136	51351136	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:51351136G>A	ENST00000522124.1	+	5	857	c.196G>A	c.(196-198)Gga>Aga	p.G66R	SNTG1_ENST00000517473.1_Missense_Mutation_p.G66R|SNTG1_ENST00000276467.5_Missense_Mutation_p.G66R|SNTG1_ENST00000518864.1_Missense_Mutation_p.G66R	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	66	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.G66R(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ACAAACAGTAGGAGGATTTGG	0.383000													50	87					0	0	1	0	0
TMEM106B	54664	broad.mit.edu	37	7	12270059	12270059	+	Silent	SNP	T	T	C	rs142177964		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:12270059T>C	ENST00000396667.2	+	7	949	c.627T>C	c.(625-627)taT>taC	p.Y209Y	TMEM106B_ENST00000396668.3_Silent_p.Y209Y	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	209						integral to membrane		p.Y209Y(2)		NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		AAATGAGTTATATGTAGTAAG	0.269000													148	164					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975892	76975892	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:76975892C>A	ENST00000409911.1	-	3	1928	c.1705G>T	c.(1705-1707)Gac>Tac	p.D569Y	LRRTM4_ENST00000409884.1_Missense_Mutation_p.D568Y|LRRTM4_ENST00000409093.1_Missense_Mutation_p.D568Y	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	568						integral to membrane		p.D568Y(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGCTGTGGTCTCGGCCCAGC	0.607000													21	211					8.28887e-21	1.18033e-20	1	1	0
SEMA3D	223117	broad.mit.edu	37	7	84669987	84669987	+	Splice_Site	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:84669987A>T	ENST00000284136.6	-	9	1090		c.e9+1		SEMA3D_ENST00000484038.1_Splice_Site	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D						cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.?(2)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGTTGAACATACCTGGTTGTA	0.318000													41	19					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113082754	113082754	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:113082754G>T	ENST00000409871.1	+	11	2467	c.2066G>T	c.(2065-2067)aGg>aTg	p.R689M	ZC3H6_ENST00000343936.4_Missense_Mutation_p.R689M	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	689							nucleic acid binding|zinc ion binding	p.R689M(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAACCTCATAGGGCACCAAGC	0.443000													20	157					2.27525e-19	3.15581e-19	1	1	0
CDH7	1005	broad.mit.edu	37	18	63527052	63527052	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:63527052G>T	ENST00000536984.2	+	10	2297	c.1603G>T	c.(1603-1605)Gat>Tat	p.D535Y	CDH7_ENST00000323011.3_Missense_Mutation_p.D535Y|CDH7_ENST00000397968.2_Missense_Mutation_p.D535Y			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	535	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D535Y(4)|p.L533_D535del(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTCATTGAAAGATAACAAAGG	0.368000													18	120					1.96292e-10	2.32933e-10	1	1	0
SAGE1	55511	broad.mit.edu	37	X	134992580	134992580	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:134992580C>A	ENST00000535938.1	+	16	2038	c.1871C>A	c.(1870-1872)gCa>gAa	p.A624E	SAGE1_ENST00000324447.3_Missense_Mutation_p.A624E|SAGE1_ENST00000370709.3_Missense_Mutation_p.A624E|SAGE1_ENST00000537770.1_Missense_Mutation_p.A248E	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	624								p.A624E(2)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCAGATGCTGCAGTCACTCAC	0.468000													145	104					1.22619e-59	2.23476e-59	1	1	0
SKP2	6502	broad.mit.edu	37	5	36152975	36152975	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:36152975G>T	ENST00000274255.6	+	2	307	c.111G>T	c.(109-111)ggG>ggT	p.G37G	SKP2_ENST00000546211.1_5'UTR|SKP2_ENST00000274254.5_Silent_p.G37G|SKP2_ENST00000508514.1_Silent_p.G37G	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	37					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.G37G(4)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGGCATGGGGGTCTCCGCCC	0.602000													46	48					1.19451e-25	1.78675e-25	1	1	0
TP53	7157	broad.mit.edu	37	17	7578556	7578556	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:7578556T>A	ENST00000420246.2	-	5	508		c.e5-2		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		AGGGGAGTACTGTAGGAAGAG	0.552000		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)			13	26					0	0	1	0	0
EVI2A	2123	broad.mit.edu	37	17	29645450	29645450	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:29645450G>T	ENST00000247270.3	-	3	987	c.651C>A	c.(649-651)gaC>gaA	p.D217E	NF1_ENST00000581113.2_3'UTR|EVI2A_ENST00000462804.2_Missense_Mutation_p.D194E|EVI2A_ENST00000461237.1_Missense_Mutation_p.D194E|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.H134N	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	194						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)|p.D217E(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTTTCCAAGTGTCTGATTCAG	0.468000													46	43					1.7489e-18	2.39465e-18	1	1	0
FAM98A	25940	broad.mit.edu	37	2	33810355	33810355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:33810355C>A	ENST00000238823.8	-	8	1185	c.1045G>T	c.(1045-1047)Gga>Tga	p.G349*	FAM98A_ENST00000441530.2_Nonsense_Mutation_p.G154*|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	350	Gly-rich.							p.G349*(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCTCGTCCTCCGTATGAGGAA	0.597000													50	103					1.27334e-21	1.82785e-21	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	126139128	126139128	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:126139128G>A	ENST00000299308.3	+	9	3117	c.3109G>A	c.(3109-3111)Ggc>Agc	p.G1037S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G549S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1037						integral to membrane		p.G1037S(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCCAGAGGACGGCGGCCCATA	0.473000													9	204					0	0	1	0	0
P2RX2	22953	broad.mit.edu	37	12	133198443	133198443	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:133198443C>A	ENST00000389110.3	+	11	1338	c.1301C>A	c.(1300-1302)cCg>cAg	p.P434Q	P2RX2_ENST00000350048.5_Missense_Mutation_p.P410Q|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000352418.4_Missense_Mutation_p.P362Q|P2RX2_ENST00000343948.4_Missense_Mutation_p.P460Q|P2RX2_ENST00000348800.5_Intron|P2RX2_ENST00000351222.4_Missense_Mutation_p.P342Q	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	434					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	p.P460Q(2)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CCAGCCTTCCCGCCCCTGCGG	0.692000													5	8					0.014758	0.0152433	1	1	0
KCNK18	338567	broad.mit.edu	37	10	118969187	118969187	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:118969187T>C	ENST00000334549.1	+	3	532	c.532T>C	c.(532-534)Tcc>Ccc	p.S178P		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	178						integral to membrane|plasma membrane		p.S178P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCCCTCCTCTCCAAGTGGTG	0.512000													5	30					0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30629219	30629219	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:30629219C>A	ENST00000358107.4	-	4	880	c.881G>T	c.(880-882)cGg>cTg	p.R294L	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Missense_Mutation_p.R164L			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	164					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	p.R294L(2)|p.R164L(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ATTACTTGACCGTACGCGTGA	0.403000													64	413					9.4991e-31	1.49632e-30	1	1	0
ZNF827	152485	broad.mit.edu	37	4	146823920	146823920	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:146823920T>A	ENST00000508784.1	-	2	718	c.491A>T	c.(490-492)cAg>cTg	p.Q164L	ZNF827_ENST00000379448.4_Missense_Mutation_p.Q164L|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	164				Q -> R (in Ref. 2; BAC03591).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q164L(4)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACTGAGCTGCTGGGCGTGGTG	0.537000													136	212					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21805115	21805115	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:21805115G>A	ENST00000399443.3	-	0	821				OSBPL1A_ENST00000357041.4_Missense_Mutation_p.R116C|OSBPL1A_ENST00000319481.3_Missense_Mutation_p.R498C	NM_018030.4	NP_060500.3	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A						cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	p.R498C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCAAAGGAGCGTGCTGTCACT	0.488000													7	253					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518829	108518829	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:108518829C>A	ENST00000375915.2	-	1	254	c.116G>T	c.(115-117)cGa>cTa	p.R39L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	39						integral to membrane	binding	p.R39L(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CAGAGACAGTCGCCATTTCTG	0.557000													27	79					2.08457e-15	2.70184e-15	1	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72520242	72520242	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:72520242C>T	ENST00000373208.1	+	22	3314	c.3314C>T	c.(3313-3315)cCt>cTt	p.P1105L	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P1102L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1102	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1105L(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGCcccaaccctggcccagac	0.637000													4	10					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48416095	48416095	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:48416095G>T	ENST00000435803.1	+	35	11285	c.11261G>T	c.(11260-11262)tGg>tTg	p.W3754L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3754					transport	integral to membrane	ATP binding|ATPase activity	p.W3699L(2)|p.W3754L(2)		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						ACATTTGGCTGGGTTTGCTGG	0.403000													145	381					1.65718e-73	3.1718e-73	1	1	0
CHCHD4	131474	broad.mit.edu	37	3	14154566	14154566	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:14154566C>T	ENST00000295767.5	-	4	613	c.289G>A	c.(289-291)Ggg>Agg	p.G97R	CHCHD4_ENST00000396914.3_Missense_Mutation_p.G84R	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	84	CHCH.				protein transport|transmembrane transport	mitochondrial intermembrane space		p.G97R(2)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CAGTCTGACCCCTTGATCTCC	0.537000													4	76					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108638599	108638599	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:108638599G>T	ENST00000218006.2	-	12	2686	c.2395C>A	c.(2395-2397)Cga>Aga	p.R799R		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	799	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.R799R(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAAGTTGGTCGTTGTTCTGCA	0.502000													192	144					1.0559e-105	2.1118e-105	1	1	0
OR5L1	219437	broad.mit.edu	37	11	55579661	55579661	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:55579661C>A	ENST00000333973.2	+	1	808	c.719C>A	c.(718-720)aCc>aAc	p.T240N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T240N(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCCTTCTCCACCTGTGCTTCC	0.507000													156	170					3.42953e-66	6.42586e-66	1	1	0
TDRD1	56165	broad.mit.edu	37	10	115973156	115973156	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:115973156A>G	ENST00000251864.2	+	15	2036	c.1883A>G	c.(1882-1884)aAa>aGa	p.K628R	TDRD1_ENST00000369282.1_Missense_Mutation_p.K628R|TDRD1_ENST00000369281.2_Missense_Mutation_p.K571R|TDRD1_ENST00000369280.1_Missense_Mutation_p.K628R|TDRD1_ENST00000422662.1_Missense_Mutation_p.K232R	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	628					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.K628R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGTCTCATGAAAAAACTTGTA	0.363000													19	161					0	0	1	0	0
RSAD2	91543	broad.mit.edu	37	2	7036027	7036027	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:7036027G>A	ENST00000382040.3	+	6	1176	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	RSAD2_ENST00000541728.1_Missense_Mutation_p.G240E	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	347					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	p.G347E(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CTGAAGCGAGGAGGAAAATAC	0.443000													67	87					0	0	1	0	0
USP16	10600	broad.mit.edu	37	21	30415863	30415863	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr21:30415863T>C	ENST00000334352.4	+	14	1530	c.1299T>C	c.(1297-1299)tcT>tcC	p.S433S	USP16_ENST00000399975.3_Silent_p.S432S|USP16_ENST00000399976.2_Silent_p.S433S|USP16_ENST00000535828.1_Silent_p.S62S	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	433					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.S433S(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						ATATTCCTTCTGGAACAAGTA	0.333000													23	159					0	0	1	0	0
RLN2	6019	broad.mit.edu	37	9	5300244	5300244	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:5300244T>A	ENST00000381627.3	-	2	800	c.412A>T	c.(412-414)Agt>Tgt	p.S138C	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	138					female pregnancy	extracellular region	hormone activity	p.S138C(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		GCGGCTTCACTTTGTCTATTG	0.378000													62	290					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39734030	39734030	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:39734030C>A	ENST00000395670.3	-	16	2666	c.2247G>T	c.(2245-2247)caG>caT	p.Q749H	KIF21A_ENST00000541463.2_Missense_Mutation_p.Q736H|KIF21A_ENST00000361418.5_Missense_Mutation_p.Q749H|KIF21A_ENST00000544797.2_Missense_Mutation_p.Q736H|KIF21A_ENST00000361961.3_Missense_Mutation_p.Q736H			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	749					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.Q736H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CATACTGAGACTGATTTTTAA	0.338000													50	170					4.79706e-38	8.0302e-38	1	1	0
POLG	5428	broad.mit.edu	37	15	89862224	89862224	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr15:89862224G>A	ENST00000268124.5	-	20	3544	c.3211C>T	c.(3211-3213)Cgt>Tgt	p.R1071C	POLG_ENST00000442287.2_Missense_Mutation_p.R1071C	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1071					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	p.R1071C(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ACCGGGGTACGTGGTATGTCA	0.587000								DNA polymerases (catalytic subunits)					22	55					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32667152	32667152	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:32667152T>A	ENST00000421745.2	+	18	4098	c.3964T>A	c.(3964-3966)Tta>Ata	p.L1322I		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1322					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.L1322I(2)|p.L1294I(2)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGTGCCATGTTACAGTTTTC	0.383000													21	91					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123105065	123105065	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:123105065T>A	ENST00000466202.1	-	10	2158		c.e10-2		IQUB_ENST00000434450.1_Splice_Site|IQUB_ENST00000324698.6_Splice_Site			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing									p.?(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTCATGTTCCTATATAAAACA	0.308000													99	94					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123870955	123870955	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:123870955G>T	ENST00000422452.2	-	4	691	c.628C>A	c.(628-630)Ccc>Acc	p.P210T	TENM1_ENST00000371130.3_Missense_Mutation_p.P210T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.P212T(2)									GCTGCAGGGGGTGGCTTCCTG	0.622000													72	61					5.29578e-48	9.24165e-48	1	1	0
SPATA18	132671	broad.mit.edu	37	4	52944926	52944926	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:52944926C>A	ENST00000295213.4	+	8	1420	c.1046C>A	c.(1045-1047)gCa>gAa	p.A349E	SPATA18_ENST00000419395.2_Missense_Mutation_p.A317E	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	349					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.A349E(4)		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)			GCAAAAATGGCATTCAGACAC	0.383000													110	390					4.03838e-40	6.84602e-40	1	1	0
C1QTNF1	114897	broad.mit.edu	37	17	77044101	77044101	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:77044101C>A	ENST00000339142.2	+	5	1332	c.777C>A	c.(775-777)atC>atA	p.I259I	C1QTNF1_ENST00000580454.1_Silent_p.I259I|C1QTNF1_ENST00000580474.1_Silent_p.I259I|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000392445.2_Silent_p.I259I|C1QTNF1_ENST00000311661.4_Silent_p.I177I|C1QTNF1_ENST00000583904.1_Silent_p.I259I|C1QTNF1_ENST00000581774.1_Silent_p.I259I|C1QTNF1_ENST00000354124.3_Silent_p.I269I|C1QTNF1_ENST00000578229.1_Silent_p.I177I|C1QTNF1_ENST00000579760.1_Silent_p.I259I	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	259	C1q.					collagen		p.I177I(2)|p.I259I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AGAACGCCATCTTCAGCGAGG	0.622000													81	73					5.42582e-32	8.72707e-32	1	1	0
TSGA13	114960	broad.mit.edu	37	7	130353924	130353924	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:130353924G>T	ENST00000456951.1	-	9	1609	c.758C>A	c.(757-759)cCc>cAc	p.P253H	TSGA13_ENST00000356588.3_Missense_Mutation_p.P253H			Q96PP4	TSG13_HUMAN	testis specific, 13	253								p.P253H(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GCTCTCCCCGGGCGCGGTTCT	0.597000													45	42					2.55665e-31	4.0392e-31	1	1	0
ZNF611	81856	broad.mit.edu	37	19	53208882	53208882	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:53208882C>T	ENST00000543227.1	-	6	1700	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	ZNF611_ENST00000602162.1_Missense_Mutation_p.D407N|ZNF611_ENST00000595798.1_Missense_Mutation_p.D407N|ZNF611_ENST00000453741.2_Missense_Mutation_p.D407N|ZNF611_ENST00000319783.1_Missense_Mutation_p.D476N|ZNF611_ENST00000540744.1_Missense_Mutation_p.D476N	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D476N(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCTCCACAGTCAATTCTAGTA	0.378000													24	123					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048891	6048891	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:6048891G>T	ENST00000316650.5	-	1	80	c.44C>A	c.(43-45)cCa>cAa	p.P15Q		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P15Q(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCAGAGACTGGGACAGTGGA	0.522000													312	432					3.67166e-174	7.54103e-174	1	1	0
NLRC3	197358	broad.mit.edu	37	16	3615000	3615000	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:3615000C>A	ENST00000301749.7	-	0	443				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	p.G60V(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGGCCCTGGCCGGCCTCCCT	0.687000													5	1					0.0293803	0.0297706	1	1	0
CDH20	28316	broad.mit.edu	37	18	59217422	59217422	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:59217422C>A	ENST00000262717.4	+	11	2258	c.1860C>A	c.(1858-1860)ggC>ggA	p.G620G	CDH20_ENST00000536675.2_Silent_p.G620G|CDH20_ENST00000538374.1_Silent_p.G620G			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	620					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G620G(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGAGCCGGGGCGCCCTCATTG	0.582000													11	91					0.000978159	0.00103229	1	1	0
MED23	9439	broad.mit.edu	37	6	131912668	131912668	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:131912668C>A	ENST00000403834.3	-	26	3663		c.e26-1		MED23_ENST00000368058.1_Splice_Site|MED23_ENST00000354577.4_Splice_Site|MED23_ENST00000479213.1_Splice_Site|MED23_ENST00000368060.3_Splice_Site|MED23_ENST00000368068.3_Splice_Site|MED23_ENST00000545957.1_Splice_Site			Q9ULK4	MED23_HUMAN	mediator complex subunit 23						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.?(4)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AATATGGCTCCTTTAAAATCG	0.403000													43	65					1.32136e-16	1.75088e-16	1	1	0
NRCAM	4897	broad.mit.edu	37	7	107830179	107830179	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:107830179G>T	ENST00000379028.3	-	20	2415	c.1945C>A	c.(1945-1947)Cct>Act	p.P649T	NRCAM_ENST00000351718.4_Missense_Mutation_p.P633T|NRCAM_ENST00000379024.4_Missense_Mutation_p.P630T|NRCAM_ENST00000379022.4_Missense_Mutation_p.P649T|NRCAM_ENST00000413765.2_Missense_Mutation_p.P630T|NRCAM_ENST00000425651.2_Missense_Mutation_p.P649T			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	649	Fibronectin type-III 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.P649T(2)|p.P633T(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCAAAGGGAGGATTTGGGACA	0.448000													137	109					7.03087e-97	1.38542e-96	1	1	0
RSPH4A	345895	broad.mit.edu	37	6	116938033	116938033	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:116938033G>T	ENST00000229554.5	+	1	384	c.247G>T	c.(247-249)Gct>Tct	p.A83S	RSPH4A_ENST00000368580.4_Missense_Mutation_p.A83S|RSPH4A_ENST00000368581.4_Missense_Mutation_p.A83S	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	83					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.A83S(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATCATCACCTGCTCCTGTCTC	0.647000									Kartagener syndrome				26	35					5.60225e-13	6.90901e-13	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117061553	117061553	+	Splice_Site	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:117061553C>G	ENST00000355044.3	+	17	2944	c.2818_splice	c.e17+1	p.P940_splice	ATRNL1_ENST00000423111.2_Splice_Site_p.P37_splice|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	940						integral to membrane	sugar binding	p.P940A(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CACCTGCTCCCGTAAGTATTT	0.358000													69	322					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100606797	100606797	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:100606797C>A	ENST00000319509.7	+	4	1887	c.1887C>A	c.(1885-1887)tcC>tcA	p.S629S						mucin 3A, cell surface associated									p.S629S(4)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AGATCCTGTCCCTGAGGTAGG	0.507000													5	6					8.12818e-05	8.75091e-05	1	1	0
LYZL2	119180	broad.mit.edu	37	10	30918543	30918543	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:30918543C>A	ENST00000375318.2	-	1	148	c.92G>T	c.(91-93)gGc>gTc	p.G31V		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.G31V(2)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				ATTCCTGGTGCCTGCCGCAGA	0.522000													47	142					4.1673e-28	6.41308e-28	1	1	0
SLC14A2	8170	broad.mit.edu	37	18	43249375	43249375	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:43249375G>C	ENST00000255226.6	+	16	2957	c.2141G>C	c.(2140-2142)gGc>gCc	p.G714A	SLC14A2_ENST00000586448.1_Missense_Mutation_p.G714A|SLC14A2_ENST00000589658.1_Missense_Mutation_p.G191A|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	714						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.G714A(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGCCACGGGCCACTACAAC	0.557000													123	399					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50900255	50900255	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:50900255C>A	ENST00000380817.2	-	21	2796	c.2613G>T	c.(2611-2613)cgG>cgT	p.R871R	SBF1_ENST00000348911.6_Silent_p.R872R|SBF1_ENST00000390679.3_Silent_p.R871R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	871					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	p.R871R(4)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGGCTCTCCCGCTGCACGG	0.647000													8	9					0.00829132	0.00858055	1	1	0
TYRP1	7306	broad.mit.edu	37	9	12708116	12708116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:12708116G>T	ENST00000388918.5	+	7	1510	c.1381G>T	c.(1381-1383)Gga>Tga	p.G461*	TYRP1_ENST00000381137.2_Nonsense_Mutation_p.G170*|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000473504.1_3'UTR|TYRP1_ENST00000381136.2_Nonsense_Mutation_p.G171*	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	461					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.G461*(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AGACAACCTGGGATACACTTA	0.388000									Oculocutaneous Albinism				47	118					9.86064e-34	1.61027e-33	1	1	0
BAI1	575	broad.mit.edu	37	8	143623594	143623594	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:143623594G>T	ENST00000517894.1	+	28	4893	c.3999G>T	c.(3997-3999)ctG>ctT	p.L1333L	BAI1_ENST00000323289.5_Silent_p.L1333L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1333					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.L1333L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACTCGGAGCTGAGCCGGGCCC	0.642000													16	9					8.04996e-18	1.09381e-17	1	1	0
BPIFB3	359710	broad.mit.edu	37	20	31659079	31659079	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr20:31659079C>A	ENST00000375494.3	+	12	1238	c.1238C>A	c.(1237-1239)tCc>tAc	p.S413Y		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	413					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	p.S413Y(1)									AAGGTGGCCTCCTCCTTTACC	0.617000													3	11					0.00024832	0.000265737	1	1	0
DAOA-AS1	282706	broad.mit.edu	37	13	106118506	106118506	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:106118506C>A	ENST00000448407.1	-	0	739					NR_040247.1																						gagctacaccccaaattagtg	0.428000													6	4					0.0215528	0.0219641	1	1	0
SLC5A9	200010	broad.mit.edu	37	1	48694626	48694626	+	Splice_Site	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:48694626C>T	ENST00000236495.5	+	3	389	c.339_splice	c.e3+1	p.N113_splice	RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000533824.1_Splice_Site_p.N113_splice|SLC5A9_ENST00000438567.2_Splice_Site_p.N113_splice|SLC5A9_ENST00000420136.2_Splice_Site_p.N106_splice	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	113						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	p.N106N(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TCGAGTGGAACGTAAGGAAGC	0.582000													9	159					0	0	1	0	0
ISYNA1	51477	broad.mit.edu	37	19	18546722	18546722	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:18546722T>C	ENST00000545187.1	-	5	821	c.535A>G	c.(535-537)Atc>Gtc	p.I179V	ISYNA1_ENST00000338128.7_Missense_Mutation_p.I329V|ISYNA1_ENST00000457269.3_Missense_Mutation_p.I275V|ISYNA1_ENST00000578963.1_Missense_Mutation_p.I201V|ISYNA1_ENST00000317018.6_Missense_Mutation_p.I127V			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	329					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	p.I329V(2)		breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TAACTCACGATGGACATGGTC	0.627000													10	22					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48654949	48654949	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:48654949G>A	ENST00000435803.1	+	59	14837	c.14813G>A	c.(14812-14814)gGt>gAt	p.G4938D	ABCA13_ENST00000544596.1_Missense_Mutation_p.G668D	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4938	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.G4883D(1)|p.G4938D(1)		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						AAATGTCTTGGTTCTCCTCAG	0.418000													10	36					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418193	38418193	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:38418193G>T	ENST00000322350.5	+	12	1866	c.1520G>T	c.(1519-1521)cGg>cTg	p.R507L	EGFLAM_ENST00000336740.6_Missense_Mutation_p.R273L|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Missense_Mutation_p.R507L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	507	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.R507L(4)		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)					ATTACTTTCCGGACACCTCTC	0.453000													87	274					2.64469e-62	4.86988e-62	1	1	0
TMEM143	55260	broad.mit.edu	37	19	48845850	48845850	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:48845850G>A	ENST00000293261.3	-	6	1228	c.912C>T	c.(910-912)ctC>ctT	p.L304L	TMEM143_ENST00000377431.2_Silent_p.L204L|TMEM143_ENST00000436660.2_Silent_p.L239L|TMEM143_ENST00000541566.1_Silent_p.L194L|TMEM143_ENST00000435956.3_Silent_p.L269L	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	304						integral to membrane|mitochondrion		p.L304L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TGGCCACCTTGAGGTCGGTTA	0.672000													25	90					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319419	31319419	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:31319419C>A	ENST00000269197.5	+	11	2051	c.2051C>A	c.(2050-2052)tCc>tAc	p.S684Y		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	684	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.S391Y(2)|p.S684Y(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTCCAATATCCACTTCACCT	0.363000													77	110					2.73218e-42	4.67623e-42	1	1	0
PGLYRP4	57115	broad.mit.edu	37	1	153312856	153312856	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:153312856C>A	ENST00000368739.3	-	7	1171		c.e7+1		PGLYRP4_ENST00000359650.5_Splice_Site			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4						defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.?(3)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACCCACTCACTTATAACCAA	0.512000													138	203					3.14662e-72	6.00105e-72	1	1	0
DMP1	1758	broad.mit.edu	37	4	88584230	88584230	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:88584230C>A	ENST00000339673.6	+	6	1399	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K	RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.Q418K	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	434					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.Q434K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GGAGGGCCTCCAGTCTCACAG	0.547000													52	121					8.99859e-20	1.25463e-19	1	1	0
FBLN2	2199	broad.mit.edu	37	3	13679148	13679148	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:13679148C>T	ENST00000404922.3	+	18	3544	c.3425C>T	c.(3424-3426)aCg>aTg	p.T1142M	FBLN2_ENST00000492059.1_Missense_Mutation_p.T1142M|FBLN2_ENST00000295760.7_Missense_Mutation_p.T1095M|FBLN2_ENST00000535798.1_Missense_Mutation_p.T1121M	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1095	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.T561M(2)|p.T1142M(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AACTTCCAGACGGGCCTCCTG	0.627000													17	23					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10420009	10420009	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:10420009G>A	ENST00000397077.1	-	9	1568	c.993C>T	c.(991-993)gcC>gcT	p.A331A	ATP2B2_ENST00000360273.2_Silent_p.A376A|ATP2B2_ENST00000352432.4_Silent_p.A376A|ATP2B2_ENST00000343816.4_Silent_p.A362A|ATP2B2_ENST00000383800.4_Silent_p.A331A			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	376					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.A376A(2)|p.A331A(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGTGCATGCTGGCCTTCTTCC	0.647000													16	71					0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87018101	87018101	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:87018101C>A	ENST00000398399.2	-	3	939	c.576G>T	c.(574-576)ctG>ctT	p.L192L	VGLL3_ENST00000383698.3_Silent_p.L192L	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.L192L(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGTCTGATGCAGGTTGTGTC	0.582000													24	126					2.70662e-09	3.14888e-09	1	1	0
RRN3P2	653390	broad.mit.edu	37	16	29107532	29107532	+	RNA	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:29107532T>A	ENST00000564580.1	+	0	924																		p.A285A(2)									GGCAGGCTGCTGGAAATTATA	0.373000													11	41					0	0	1	0	0
DDIT3	1649	broad.mit.edu	37	12	57910683	57910683	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:57910683C>A	ENST00000551116.1	-	4	755	c.488G>T	c.(487-489)cGg>cTg	p.R163L	DDIT3_ENST00000346473.3_Missense_Mutation_p.R140L|DDIT3_ENST00000547303.1_Missense_Mutation_p.R140L|DDIT3_ENST00000552740.1_Missense_Mutation_p.R163L	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	140					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	p.R140L(2)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						CTGCTTGAGCCGTTCATTCTC	0.537000			T	FUS	liposarcoma								35	87					4.34311e-12	5.29502e-12	1	1	0
AHSG	197	broad.mit.edu	37	3	186335082	186335082	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:186335082C>A	ENST00000411641.2	+	4	735	c.516C>A	c.(514-516)aaC>aaA	p.N172K	AHSG_ENST00000273784.5_Missense_Mutation_p.N173K			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	172	Cystatin fetuin-A-type 2.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).	acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	p.N172K(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCGCCTTCAACGCTCAGAACA	0.602000											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	163					1.45844e-13	1.81117e-13	1	1	0
OR2M2	391194	broad.mit.edu	37	1	248343333	248343333	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:248343333G>T	ENST00000359682.2	+	1	46	c.46G>T	c.(46-48)Gga>Tga	p.G16*		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATCCTCCTTGGAATCTTCAA	0.438000													149	881					2.09629e-50	3.69445e-50	1	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072820	17072820	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:17072820C>G	ENST00000359963.3	-	1	880	c.621G>C	c.(619-621)gcG>gcC	p.A207A		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	207					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.A207A(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCCCGGGCAGCGCGCACACCC	0.617000													8	29					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237540714	237540714	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:237540714C>G	ENST00000366574.2	+	8	872	c.555C>G	c.(553-555)agC>agG	p.S185R	RYR2_ENST00000542537.1_Missense_Mutation_p.S169R|RYR2_ENST00000360064.6_Missense_Mutation_p.S183R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	185	MIR 2.				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	p.S183R(2)		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)			TCTTAGTTAGCGTGTCCTCTG	0.423000													83	103					0	0	1	0	0
FAM124A	220108	broad.mit.edu	37	13	51855350	51855350	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:51855350G>A	ENST00000322475.8	+	4	1734	c.1599G>A	c.(1597-1599)tcG>tcA	p.S533S	FAM124A_ENST00000280057.6_Silent_p.S569S	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	533								p.S569S(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCCCAGGGTCGGCTGGCCCCG	0.577000													49	93					0	0	1	0	0
AKR1E2	83592	broad.mit.edu	37	10	4875556	4875556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:4875556C>A	ENST00000298375.7	+	3	293	c.222C>A	c.(220-222)tgC>tgA	p.C74*	AKR1E2_ENST00000334019.4_Nonsense_Mutation_p.C74*|AKR1E2_ENST00000345253.5_Nonsense_Mutation_p.C74*|AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000532248.1_Nonsense_Mutation_p.C74*	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	74						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.C74*(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						GGTGCACCTGCCATAAGAAGT	0.532000													26	55					4.74835e-14	6.03719e-14	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32633201	32633201	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:32633201G>T	ENST00000242310.4	-	1	2466	c.2377C>A	c.(2377-2379)Cgg>Agg	p.R793R		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	793					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R793R(2)|p.R793W(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACTAATTCCCGAATATAGTAA	0.438000													50	242					2.17126e-26	3.27529e-26	1	1	0
UGT1A10	54575	broad.mit.edu	37	2	234545808	234545808	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:234545808T>A	ENST00000344644.5	+	1	709	c.640T>A	c.(640-642)Ttg>Atg	p.L214M	UGT1A10_ENST00000373445.1_Missense_Mutation_p.L214M|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1												p.L214M(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		CATCGTGCACTTGGAGGACCA	0.453000													157	781					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50586248	50586248	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:50586248G>A	ENST00000547825.1	-	3	1490	c.221C>T	c.(220-222)cCc>cTc	p.P74L	LIMA1_ENST00000394943.3_Missense_Mutation_p.P377L|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552823.1_Missense_Mutation_p.P216L|LIMA1_ENST00000552783.1_Missense_Mutation_p.P217L|LIMA1_ENST00000552491.1_Missense_Mutation_p.P74L|LIMA1_ENST00000341247.4_Missense_Mutation_p.P376L|LIMA1_ENST00000552909.1_Missense_Mutation_p.P216L	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	376					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.P376I(2)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CATTGCTTTGGGAGGAGAACT	0.448000													37	91					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851670	14851670	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:14851670G>C	ENST00000358984.4	+	36	3550	c.3370G>C	c.(3370-3372)Gct>Cct	p.A1124P		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1209								p.A1124P(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAAAGAATGCTGAACTTCA	0.373000													6	44					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55593452	55593452	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:55593452T>A	ENST00000288135.5	+	10	1706	c.1609T>A	c.(1609-1611)Tgc>Agc	p.C537S		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	537					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	p.C537S(2)		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)	TGGCATGATGTGCATTATTGT	0.383000		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				206	594					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42988648	42988648	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:42988648G>T	ENST00000253408.5	-	6	1148	c.1083C>A	c.(1081-1083)atC>atA	p.I361I	GFAP_ENST00000435360.2_Silent_p.I361I|GFAP_ENST00000586793.1_Silent_p.I361I|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	361	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.I361I(4)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGCGATCTCGATGTCCAGGG	0.632000													23	34					9.86323e-18	1.33679e-17	1	1	0
IL3RA	3563	broad.mit.edu	37	X	1460672	1460672	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:1460672G>T	ENST00000331035.4	+	2	363	c.14G>T	c.(13-15)tGg>tTg	p.W5L	IL3RA_ENST00000381469.2_Missense_Mutation_p.W5L	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	5						integral to membrane|plasma membrane	interleukin-3 receptor activity	p.W5L(2)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTCCTCCTTTGGCTCACGCTG	0.607000													66	91					7.33394e-39	1.23155e-38	1	1	0
TET1	80312	broad.mit.edu	37	10	70405010	70405010	+	Missense_Mutation	SNP	A	A	G	rs77500190		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:70405010A>G	ENST00000373644.4	+	4	2733	c.2524A>G	c.(2524-2526)Atc>Gtc	p.I842V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	842					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.I842V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTCACACTCCATCATAAATCA	0.398000													133	407					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128452070	128452070	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:128452070G>T	ENST00000297788.4	+	13	2612	c.2245G>T	c.(2245-2247)Ggt>Tgt	p.G749C	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	749						integral to membrane	protein binding	p.G749F(4)|p.G749S(2)|p.G865F(2)|p.G865S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAAGAGCTATGGTAGCATGGT	0.498000													103	113					5.16181e-52	9.12717e-52	1	1	0
PZP	5858	broad.mit.edu	37	12	9301592	9301592	+	Splice_Site	SNP	T	T	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:9301592T>G	ENST00000261336.2	-	36	4455		c.e36-2		PZP_ENST00000381997.2_Splice_Site	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.?(4)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GCTCTGTATCTATGGAGAAAA	0.413000													56	112					0	0	1	0	0
FRG1	2483	broad.mit.edu	37	4	190876250	190876250	+	Missense_Mutation	SNP	G	G	T	rs146824996	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:190876250G>T	ENST00000226798.4	+	5	598	c.376G>T	c.(376-378)Gtt>Ttt	p.V126F	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	126					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.V126F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGGACTTGTTGTTGGGCGTTC	0.353000													11	148					4.7546e-09	5.5075e-09	1	1	0
FGD6	55785	broad.mit.edu	37	12	95602937	95602937	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:95602937C>A	ENST00000343958.4	-	2	2346	c.2123G>T	c.(2122-2124)cGg>cTg	p.R708L	FGD6_ENST00000546711.1_Missense_Mutation_p.R708L|FGD6_ENST00000549499.1_Missense_Mutation_p.R708L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	708					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.R708L(2)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGTCTGGCCCCGAGACTTCTT	0.478000													31	55					1.45844e-13	1.81117e-13	1	1	0
P4HTM	54681	broad.mit.edu	37	3	49027918	49027918	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:49027918G>A	ENST00000343546.4	+	1	597	c.229G>A	c.(229-231)Gcg>Acg	p.A77T	P4HTM_ENST00000383729.4_Missense_Mutation_p.A77T	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	77						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.A77T(2)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TAACGTGCTGGCGCTGCTGCT	0.682000													5	12					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407380	105407380	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:105407380G>C	ENST00000333244.5	-	7	14527	c.14408C>G	c.(14407-14409)gCc>gGc	p.A4803G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4803						nucleus		p.A4803G(2)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGGGCCAAGGCAGCTCTGGG	0.517000													6	13					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064372	7064372	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:7064372G>T	ENST00000299481.4	+	4	1461	c.1115G>T	c.(1114-1116)tGc>tTc	p.C372F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	372	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.C372F(2)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCCCTAGTGTGCTGGGCCGCT	0.443000													71	336					1.59627e-33	2.5909e-33	1	1	0
ZNF135	7694	broad.mit.edu	37	19	58579730	58579730	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:58579730G>A	ENST00000506786.1	+	5	2306	c.1752G>A	c.(1750-1752)agG>agA	p.R584R	ZNF135_ENST00000313434.5_Silent_p.R626R|ZNF135_ENST00000511556.1_Silent_p.R638R|ZNF135_ENST00000439855.2_Silent_p.R626R|ZNF135_ENST00000401053.4_Silent_p.R650R|ZNF135_ENST00000359978.6_Intron			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	638					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R650K(2)|p.R626K(2)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGCACCGGAGGATCCACACAG	0.542000													9	72					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56516040	56516040	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:56516040G>A	ENST00000370754.5	-	10	1117	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L	DST_ENST00000370769.4_Missense_Mutation_p.P195L|DST_ENST00000370788.2_Missense_Mutation_p.P195L|DST_ENST00000312431.6_Missense_Mutation_p.P195L|DST_ENST00000421834.2_Missense_Mutation_p.P195L|DST_ENST00000361203.3_Missense_Mutation_p.P195L			Q03001	DYST_HUMAN	dystonin	195					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.P195M(2)|p.P373M(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATCAGGTCCGGCCTAGGAAA	0.328000													19	26					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216369952	216369952	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:216369952G>T	ENST00000366943.2	-	19	4580	c.4194C>A	c.(4192-4194)gaC>gaA	p.D1398E	USH2A_ENST00000307340.3_Missense_Mutation_p.D1398E|USH2A_ENST00000366942.3_Missense_Mutation_p.D1398E|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1398	Fibronectin type-III 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D1398E(2)		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)		GCATATTGATGTCATACCCCA	0.413000										HNSCC(13;0.011)			127	247					3.67065e-75	7.05081e-75	1	1	0
WDR7	23335	broad.mit.edu	37	18	54694337	54694337	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:54694337G>T	ENST00000254442.3	+	28	4583	c.4372G>T	c.(4372-4374)Ggc>Tgc	p.G1458C	WDR7_ENST00000589935.1_Missense_Mutation_p.G35C|WDR7_ENST00000357574.3_Missense_Mutation_p.G1425C	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1458								p.G1458C(2)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CGCGTCCCCCGGCTCCCACAA	0.617000													10	48					5.50884e-06	6.09052e-06	1	1	0
LTF	4057	broad.mit.edu	37	3	46496816	46496816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:46496816C>A	ENST00000231751.4	-	5	911	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	LTF_ENST00000426532.2_Nonsense_Mutation_p.E162*|LTF_ENST00000417439.1_Nonsense_Mutation_p.E206*	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	206	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.Q205_E206>H*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AAGTACGGTTCCTGGGAGGAG	0.582000													36	106					1.07121e-22	1.56291e-22	1	1	0
C2orf71	388939	broad.mit.edu	37	2	29295827	29295827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:29295827C>A	ENST00000331664.5	-	1	1300	c.1301G>T	c.(1300-1302)tGc>tTc	p.C434F		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	434					response to stimulus|visual perception	photoreceptor outer segment		p.C434F(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACTGGAGAGGCATGGGCTCCT	0.567000													28	21					1.68575e-08	1.94426e-08	1	1	0
PRKCB	5579	broad.mit.edu	37	16	24166178	24166178	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:24166178G>T	ENST00000303531.7	+	10	1391	c.1239_splice	c.e10+1	p.M413_splice	PRKCB_ENST00000321728.7_Splice_Site_p.M413_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	413	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.M413N(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCCAGACCATGGTAACTTGTC	0.582000													47	39					1.44317e-28	2.23377e-28	1	1	0
SPATA5	166378	broad.mit.edu	37	4	123868550	123868550	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:123868550C>T	ENST00000274008.3	+	9	1690	c.1621C>T	c.(1621-1623)Ccc>Tcc	p.P541S	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	541					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	p.P541S(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCGAAGGGTACCCCATTTGCT	0.493000													101	239					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154411267	154411267	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:154411267C>A	ENST00000414028.2	+	2	647	c.597C>A	c.(595-597)gcC>gcA	p.A199A	OPRM1_ENST00000229768.5_Silent_p.A199A|OPRM1_ENST00000522236.1_Silent_p.A99A|OPRM1_ENST00000522555.1_Silent_p.A99A|OPRM1_ENST00000434900.2_Silent_p.A292A|OPRM1_ENST00000337049.4_Silent_p.A199A|OPRM1_ENST00000518759.1_Silent_p.A118A|OPRM1_ENST00000330432.7_Silent_p.A199A|OPRM1_ENST00000419506.2_Silent_p.A199A|OPRM1_ENST00000435918.2_Silent_p.A199A|OPRM1_ENST00000360422.4_Silent_p.A199A|OPRM1_ENST00000524163.1_Silent_p.A199A|OPRM1_ENST00000428397.2_Silent_p.A199A|OPRM1_ENST00000452687.2_Silent_p.A199A|OPRM1_ENST00000520708.1_Silent_p.A99A	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	199					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.A199A(4)|p.A292A(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCTCTTCAGCCATTGGTCTTC	0.468000													109	144					6.1095e-40	1.03243e-39	1	1	0
ARHGAP6	395	broad.mit.edu	37	X	11196361	11196361	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:11196361C>T	ENST00000337414.4	-	8	2360	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E	ARHGAP6_ENST00000380736.1_Silent_p.E293E|ARHGAP6_ENST00000303025.6_Silent_p.E293E|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380718.1_Silent_p.E496E|ARHGAP6_ENST00000380732.3_Silent_p.E528E|ARHGAP6_ENST00000534860.1_Silent_p.E321E|ARHGAP6_ENST00000413512.3_Silent_p.E305E	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	496	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.E496E(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTTCCTCCGGCTCCAACACTA	0.522000													16	32					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52788890	52788890	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:52788890C>A	ENST00000257974.2	-	9	1488	c.1411G>T	c.(1411-1413)Ggc>Tgc	p.G471C	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	471	Tail.					keratin filament	protein binding|structural constituent of epidermis	p.G471C(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		ATGCTGCAGCCCCCATTGCTC	0.632000													6	37					2.0095e-06	2.24492e-06	1	1	0
SNPH	9751	broad.mit.edu	37	20	1286120	1286120	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr20:1286120G>T	ENST00000381867.1	+	7	1681	c.1039G>T	c.(1039-1041)Ggt>Tgt	p.G347C	SNPH_ENST00000381873.3_Missense_Mutation_p.G303C			O15079	SNPH_HUMAN	syntaphilin	303					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	p.G303C(2)|p.G347C(2)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CATGGAGGCTGGTGTGCAGGC	0.627000													14	16					6.49762e-13	7.97639e-13	1	1	0
KCNK3	3777	broad.mit.edu	37	2	26950707	26950707	+	Silent	SNP	C	C	T	rs112956865		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:26950707C>T	ENST00000302909.3	+	2	581	c.456C>T	c.(454-456)gcC>gcT	p.A152A		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	152					synaptic transmission	integral to plasma membrane		p.A152A(1)		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGGCGCGCCGACGTGTCCA	0.647000													5	38					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462598	5462598	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:5462598G>A	ENST00000345221.3	-	4	1972	c.1418C>T	c.(1417-1419)gCa>gTa	p.A473V	NLRP1_ENST00000572272.1_Missense_Mutation_p.A473V|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.A473V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A473V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A473V|NLRP1_ENST00000354411.3_Missense_Mutation_p.A473V	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	473	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.A473V(6)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TACCCAACGTGCCTGCTCCAA	0.502000													20	37					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156376676	156376676	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:156376676A>C	ENST00000274532.2	-	4	802	c.746T>G	c.(745-747)cTg>cGg	p.L249R	TIMD4_ENST00000407087.3_Missense_Mutation_p.L249R	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	249	Ser-rich.					integral to membrane		p.L249R(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGATGTCAGCAGGACAGTGTC	0.458000													26	116					0	0	1	0	0
CD28	940	broad.mit.edu	37	2	204571325	204571325	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:204571325T>C	ENST00000458610.2	+	1	79	c.79T>C	c.(79-81)Tct>Cct	p.S27P	CD28_ENST00000374481.3_5'UTR|CD28_ENST00000324106.7_5'UTR			P10747	CD28_HUMAN	CD28 molecule	13					cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TGACGGAGACTCTCAGGCCTT	0.587000													4	38					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981463	70981463	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:70981463G>T	ENST00000276594.2	-	2	834	c.633C>A	c.(631-633)ccC>ccA	p.P211P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P211P(2)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCTCCAGGCTGGGAGTGACCC	0.592000													26	19					1.39806e-14	1.79894e-14	1	1	0
ACSL6	23305	broad.mit.edu	37	5	131323839	131323839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:131323839C>A	ENST00000379264.2	-	7	841	c.733G>T	c.(733-735)Ggc>Tgc	p.G245C	ACSL6_ENST00000379272.2_Missense_Mutation_p.G235C|ACSL6_ENST00000543479.1_Missense_Mutation_p.G220C|ACSL6_ENST00000379244.1_Missense_Mutation_p.G220C|ACSL6_ENST00000379255.1_Missense_Mutation_p.G185C|ACSL6_ENST00000431707.1_Missense_Mutation_p.G200C|ACSL6_ENST00000357096.1_Missense_Mutation_p.G185C|ACSL6_ENST00000379249.3_Missense_Mutation_p.G220C|ACSL6_ENST00000379246.1_Missense_Mutation_p.G231C|ACSL6_ENST00000379240.1_Missense_Mutation_p.G220C|ACSL6_ENST00000296869.4_Missense_Mutation_p.G245C|ACSL6_ENST00000544770.1_Missense_Mutation_p.G129C	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	220					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G245F(4)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCTTGAGGCCTGGAGTCTCC	0.562000													169	201					1.99794e-63	3.69169e-63	1	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103229014	103229014	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:103229014G>T	ENST00000375735.2	+	83	12227	c.12083G>T	c.(12082-12084)gGt>gTt	p.G4028V	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G4035V|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4028					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.G1468V(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATAACAGCTGGTTCCAAATTT	0.353000													15	17					1.96895e-08	2.26111e-08	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47530541	47530541	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:47530541G>T	ENST00000426342.1	-	7	1288	c.542C>A	c.(541-543)aCg>aAg	p.T181K	MDGA2_ENST00000357362.3_Missense_Mutation_p.T181K|MDGA2_ENST00000399232.2_Missense_Mutation_p.T479K|MDGA2_ENST00000439988.2_Missense_Mutation_p.T410K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	410	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.T181K(4)|p.T479K(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCAAAATCCGTGAATTTTAA	0.428000													133	184					5.91622e-87	1.16149e-86	1	1	0
PARVG	64098	broad.mit.edu	37	22	44581730	44581730	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:44581730C>A	ENST00000422871.1	+	4	546	c.122C>A	c.(121-123)cCc>cAc	p.P41H	PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000415224.1_Missense_Mutation_p.P41H|PARVG_ENST00000444313.2_Missense_Mutation_p.P41H	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	41					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P41H(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CGGAAGGACCCCAAATTTGAA	0.612000													7	7					0.00448238	0.00467498	1	1	0
HTR1A	3350	broad.mit.edu	37	5	63257347	63257347	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:63257347A>T	ENST00000323865.3	-	1	433	c.200T>A	c.(199-201)cTg>cAg	p.L67Q	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	67					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.L67Q(2)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CACGTTCTGCAGGGAGCGCTC	0.602000													19	39					0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247058	56247058	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:56247058C>A	ENST00000545221.1	+	1	42	c.42C>A	c.(40-42)ttC>ttA	p.F14L		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F14L(2)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACTTTGTCTTCCTGGGGCTCT	0.458000													33	130					1.67305e-13	2.07287e-13	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3072046	3072046	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:3072046A>C	ENST00000602557.1	-	31	5398	c.4843T>G	c.(4843-4845)Tgg>Ggg	p.W1615G	CSMD1_ENST00000539096.1_Missense_Mutation_p.W1614G|CSMD1_ENST00000537824.1_Missense_Mutation_p.W1614G|CSMD1_ENST00000602723.1_Missense_Mutation_p.W1615G|CSMD1_ENST00000400186.3_Missense_Mutation_p.W1615G|CSMD1_ENST00000520002.1_Missense_Mutation_p.W1615G|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.W1614G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1615	Sushi 9.					integral to membrane		p.W1343G(1)|p.W1614G(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTTGGTCCCAGGAGGGTTTC	0.483000													10	57					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29287786	29287786	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:29287786G>T	ENST00000331664.5	-	2	3815	c.3816C>A	c.(3814-3816)atC>atA	p.I1272I		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1272					response to stimulus|visual perception	photoreceptor outer segment		p.I1272I(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ATTTGTCCTGGATGTGGCCGG	0.662000													5	10					0.0215528	0.0219641	1	1	0
PILRB	29990	broad.mit.edu	37	7	99956501	99956501	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:99956501A>T	ENST00000310771.4	+	16	2749	c.253A>T	c.(253-255)Agg>Tgg	p.R85W	PILRB_ENST00000444073.1_Missense_Mutation_p.R85W|PILRB_ENST00000452089.1_Missense_Mutation_p.R85W|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000444874.1_Intron			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	85	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	p.R85W(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTACAGCACAAGGCCGCCTTC	0.547000													12	61					0	0	1	0	0
GNRHR	2798	broad.mit.edu	37	4	68619638	68619638	+	Missense_Mutation	SNP	C	C	T	rs104893842		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:68619638C>T	ENST00000226413.4	-	1	440	c.416G>A	c.(415-417)cGc>cAc	p.R139H	GNRHR_ENST00000420975.2_Missense_Mutation_p.R139H|RP11-453E17.1_ENST00000502758.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	139			R -> H (in IHH; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro).		multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	p.R139H(2)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	AGCCAGGGAGCGGTCCAGGCT	0.512000													27	148					0	0	1	0	0
CLEC1A	51267	broad.mit.edu	37	12	10226002	10226002	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:10226002G>T	ENST00000315330.4	-	5	614	c.552C>A	c.(550-552)gcC>gcA	p.A184A	CLEC1A_ENST00000457018.2_Silent_p.A151A|CLEC1A_ENST00000420265.2_Silent_p.A92A	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	184	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	p.A184A(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TCTGAGACGCGGCAAATTCCT	0.483000													35	151					8.16277e-20	1.14108e-19	1	1	0
SPAG16	79582	broad.mit.edu	37	2	214162030	214162030	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:214162030G>T	ENST00000374309.3	+	2	65	c.65G>T	c.(64-66)tGg>tTg	p.W22L	SPAG16_ENST00000413312.1_Silent_p.L45L|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000331683.5_Silent_p.L76L|SPAG16_ENST00000432529.2_Silent_p.L76L|SPAG16_ENST00000447990.1_Silent_p.L76L|SPAG16_ENST00000272898.7_Silent_p.L76L			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	0					cilium assembly	cilium axoneme|flagellar axoneme		p.L76L(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AAGAAGATCTGGCAAAAGCAA	0.373000													42	225					2.22609e-26	3.34853e-26	1	1	0
EP400	57634	broad.mit.edu	37	12	132446343	132446343	+	Missense_Mutation	SNP	G	G	C	rs141437491		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:132446343G>C	ENST00000333577.4	+	2	1288	c.1179G>C	c.(1177-1179)ttG>ttC	p.L393F	EP400_ENST00000389562.2_Missense_Mutation_p.L393F|EP400_ENST00000330386.6_Missense_Mutation_p.L393F|EP400_ENST00000389561.2_Missense_Mutation_p.L393F|EP400_ENST00000332482.4_Missense_Mutation_p.L393F			Q96L91	EP400_HUMAN	E1A binding protein p400	393					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.L393F(2)		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)		TGTTTTTCTTGCAACACTTTC	0.413000													12	52					0	0	1	0	0
PPM1H	57460	broad.mit.edu	37	12	63083523	63083523	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:63083523C>A	ENST00000228705.6	-	8	1501	c.1201G>T	c.(1201-1203)Gac>Tac	p.D401Y	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	401	PP2C-like.						phosphoprotein phosphatase activity	p.D401Y(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		ATGTTGGAGTCATGCACCTTC	0.458000													38	71					3.94638e-17	5.29489e-17	1	1	0
RASA3	22821	broad.mit.edu	37	13	114778667	114778667	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:114778667G>T	ENST00000334062.7	-	15	1584	c.1463C>A	c.(1462-1464)gCg>gAg	p.A488E	RASA3_ENST00000389544.4_Missense_Mutation_p.A456E	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	488	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	p.A488E(2)|p.A488V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AATGGCGGGCGCAAAGAACCT	0.617000													4	5					0.000602214	0.00063806	1	1	0
MUC17	140453	broad.mit.edu	37	7	100663463	100663463	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:100663463T>A	ENST00000306151.4	+	1	111	c.47T>A	c.(46-48)cTc>cAc	p.L16H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	16						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.L16H(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTTGGTCCTCTCGCTCTTG	0.652000													50	26					0	0	1	0	0
C5orf34	375444	broad.mit.edu	37	5	43503862	43503862	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:43503862C>A	ENST00000306862.2	-	5	1308	c.932_splice	c.e5-1	p.R311_splice	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	311								p.R311S(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					AAAAATTCCACCTGTGAAGGA	0.323000													6	169					0.0215528	0.0219641	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55761855	55761855	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:55761855C>G	ENST00000278409.1	-	1	246	c.247G>C	c.(247-249)Gca>Cca	p.A83P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A83P(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AATAAATCTGCCAGCATCTTT	0.458000													20	152					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158617395	158617395	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:158617395C>A	ENST00000368148.3	-	27	4010	c.3830G>T	c.(3829-3831)cGt>cTt	p.R1277L	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1277L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1277					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1277L(2)|p.R1277H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCTTTGTACGCCCCTGCAG	0.557000													32	176					2.81731e-10	3.3358e-10	1	1	0
KCNA2	3737	broad.mit.edu	37	1	111146880	111146880	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:111146880G>T	ENST00000485317.1	-	3	1198	c.525C>A	c.(523-525)atC>atA	p.I175I	KCNA2_ENST00000369770.3_Silent_p.I175I|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Silent_p.I175I|KCNA2_ENST00000316361.4_Silent_p.I175I			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	175						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.I175I(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TGACAATTGAGATCAGAATCA	0.463000													44	69					6.23363e-37	1.03378e-36	1	1	0
KIF21B	23046	broad.mit.edu	37	1	200978567	200978567	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:200978567T>A	ENST00000332129.2	-	2	407	c.91A>T	c.(91-93)Acc>Tcc	p.T31S	KIF21B_ENST00000360529.5_Missense_Mutation_p.T31S|KIF21B_ENST00000422435.2_Missense_Mutation_p.T31S|KIF21B_ENST00000461742.2_Missense_Mutation_p.T31S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	31	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.T31S(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTAACAGAGGTACAGATGTGA	0.592000													41	75					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61894041	61894041	+	Silent	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:61894041T>A	ENST00000280772.1	-	25	3020	c.2829A>T	c.(2827-2829)ccA>ccT	p.P943P	ANK3_ENST00000373827.2_Silent_p.P937P|ANK3_ENST00000503366.1_Silent_p.P944P|ANK3_ENST00000355288.2_Silent_p.P77P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	943					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.P578P(2)|p.P77P(2)|p.P943P(2)		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						GCTCTTTGGATGGCACAAGGA	0.398000													54	127					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50765580	50765580	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:50765580G>T	ENST00000404971.1	-	11	3413	c.2074C>A	c.(2074-2076)Caa>Aaa	p.Q692K	NRXN1_ENST00000401669.2_Missense_Mutation_p.Q652K|NRXN1_ENST00000402717.3_Missense_Mutation_p.Q644K|NRXN1_ENST00000406859.3_Missense_Mutation_p.Q652K|NRXN1_ENST00000405472.3_Missense_Mutation_p.Q644K|NRXN1_ENST00000406316.2_Missense_Mutation_p.Q652K|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	652	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.Q693K(2)|p.Q652K(2)|p.Q692K(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTTGCTTTGGCCATCGATG	0.507000													210	495					4.59961e-116	9.30375e-116	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130293212	130293212	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:130293212C>T	ENST00000358511.6	+	7	3421	c.3390C>T	c.(3388-3390)atC>atT	p.I1130I	COL6A6_ENST00000453409.2_Silent_p.I1130I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1130	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen		p.I1130I(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACAGAGGTATCGACATCTACT	0.552000													7	230					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922175	24922175	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr15:24922175G>T	ENST00000329468.2	+	1	1635	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.E387D(2)									ATAAAACAGAGACCATGACAA	0.527000													6	23					0.0293803	0.0297706	1	1	0
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs138483057	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:52864028C>T	ENST00000451298.1	-	0	141				RP11-64P12.8_ENST00000606031.1_RNA																							TAGAATGATACTCCAAAGGAA	0.313000													4	75					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62845321	62845321	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:62845321C>T	ENST00000512091.1	+	17	3389	c.2642C>T	c.(2641-2643)aCg>aTg	p.T881M	LPHN3_ENST00000506720.1_Missense_Mutation_p.T949M|LPHN3_ENST00000514591.1_Missense_Mutation_p.T881M|LPHN3_ENST00000504896.1_Missense_Mutation_p.T881M|LPHN3_ENST00000509896.1_Missense_Mutation_p.T949M|LPHN3_ENST00000506746.1_Missense_Mutation_p.T949M|LPHN3_ENST00000508946.1_Missense_Mutation_p.T881M|LPHN3_ENST00000514996.1_Missense_Mutation_p.T881M|LPHN3_ENST00000545650.1_Missense_Mutation_p.T881M|LPHN3_ENST00000508693.1_Missense_Mutation_p.T949M|LPHN3_ENST00000506700.1_Missense_Mutation_p.T881M|LPHN3_ENST00000507625.1_Missense_Mutation_p.T949M|LPHN3_ENST00000514157.1_Missense_Mutation_p.T881M|LPHN3_ENST00000507164.1_Missense_Mutation_p.T949M|LPHN3_ENST00000511324.1_Missense_Mutation_p.T949M			Q9HAR2	LPHN3_HUMAN	latrophilin 3	868					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.T881M(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATGTGATCACGTGGGTTGGA	0.448000													440	937					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33793329	33793329	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:33793329G>T	ENST00000261326.5	+	7	1240	c.1218_splice	c.e7-1	p.V407_splice		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	407					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	p.V407L(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AAATCCGCAGGTGGACAAAAT	0.463000													24	100					8.16721e-17	1.0849e-16	1	1	0
LAMC3	10319	broad.mit.edu	37	9	133932444	133932444	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:133932444G>T	ENST00000361069.4	+	12	2201	c.2068G>T	c.(2068-2070)Gga>Tga	p.G690*	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	690	Laminin EGF-like 5; second part.				cell adhesion	basement membrane|membrane	structural molecule activity	p.G690*(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTGTGCTCCGGGATACAAGAG	0.617000													24	44					8.24728e-16	1.07678e-15	1	1	0
GRID2	2895	broad.mit.edu	37	4	94693324	94693324	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:94693324T>C	ENST00000282020.4	+	16	2957	c.2699T>C	c.(2698-2700)aTt>aCt	p.I900T	GRID2_ENST00000510992.1_Missense_Mutation_p.I805T	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	900					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.I900T(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACCTCGTCAATTGATTTGACC	0.453000													132	249					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55979649	55979649	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:55979649C>A	ENST00000263923.4	-	7	1094		c.e7-1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.?(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TATGCTGATGCTGAAAAAAAG	0.373000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			8	30					0.00621372	0.00644296	1	1	0
TLR4	7099	broad.mit.edu	37	9	120476354	120476354	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:120476354C>T	ENST00000355622.6	+	3	2049	c.1948C>T	c.(1948-1950)Ctg>Ttg	p.L650L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L610L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	650					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.L650L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGTAGCAGTTCTGGTCTATAA	0.428000													34	61					0	0	1	0	0
MAGOH	4116	broad.mit.edu	37	1	53692748	53692748	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:53692748A>G	ENST00000371470.3	-	5	571	c.410T>C	c.(409-411)aTt>aCt	p.I137T	MAGOH_ENST00000371466.4_Missense_Mutation_p.I100T	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	137					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	p.I137T(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						GTGTAATCCAATAAGACTGAA	0.378000													2	10					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542347	179542347	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:179542347C>A	ENST00000589042.1	-	146	34516		c.e146+1		TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(2)		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)			AGCTGCTATACCTGGTGCAGG	0.418000													12	26					1.05317e-09	1.23062e-09	1	1	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999276	112999276	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:112999276G>T	ENST00000271277.6	+	6	1387	c.1162G>T	c.(1162-1164)Gag>Tag	p.E388*		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	388						actin cytoskeleton	protein binding	p.E388*(2)|p.E388K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAACCAGTGGAGAATGGTGG	0.552000													78	127					1.13027e-35	1.86285e-35	1	1	0
TTC14	151613	broad.mit.edu	37	3	180327803	180327803	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:180327803G>T	ENST00000296015.4	+	12	1918	c.1786G>T	c.(1786-1788)Gat>Tat	p.D596Y	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000465625.1_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	596							RNA binding	p.D596Y(2)|p.D596N(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TAGGTCTGAAGATCCAAGAGA	0.353000													24	150					1.5548e-18	2.13435e-18	1	1	0
SH2B1	25970	broad.mit.edu	37	16	28880417	28880417	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:28880417G>T	ENST00000337120.5	+	3	4423	c.1133_splice	c.e3+1	p.G378_splice	SH2B1_ENST00000359285.5_Splice_Site_p.G378_splice|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Splice_Site_p.G378_splice|SH2B1_ENST00000545570.1_Splice_Site_p.G68_splice|SH2B1_ENST00000395532.4_Splice_Site_p.G378_splice|SH2B1_ENST00000538342.1_Splice_Site_p.G42_splice	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	378	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.G378*(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCTGAGCCCAGGGTGAGAAGC	0.562000													6	107					5.68852e-11	6.81092e-11	1	1	0
CTNNA3	29119	broad.mit.edu	37	10	67726505	67726505	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:67726505C>A	ENST00000433211.1	-	17	2440		c.e17-1		CTNNA3_ENST00000373735.1_Splice_Site|CTNNA3_ENST00000373744.4_Splice_Site	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.?(4)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GATCTGGGCACTAAATATGAA	0.363000													16	68					3.41278e-10	4.03192e-10	1	1	0
EGFLAM	133584	broad.mit.edu	37	5	38418194	38418194	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:38418194G>C	ENST00000322350.5	+	12	1867	c.1521G>C	c.(1519-1521)cgG>cgC	p.R507R	EGFLAM_ENST00000336740.6_Silent_p.R273R|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Silent_p.R507R	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	507	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.R507L(4)		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)					TTACTTTCCGGACACCTCTCT	0.453000													89	276					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813237	176813237	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:176813237C>A	ENST00000324417.5	+	4	366	c.275C>A	c.(274-276)cCc>cAc	p.P92H	SLC34A1_ENST00000512593.1_Missense_Mutation_p.P92H	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	92					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.P92H(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			AGGCTGGTCCCCAAGCTGCGC	0.662000													30	41					2.51541e-25	3.75204e-25	1	1	0
GSN	2934	broad.mit.edu	37	9	124088797	124088797	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:124088797T>C	ENST00000373823.3	+	20	2329	c.1424T>C	c.(1423-1425)gTg>gCg	p.V475A	GSN_ENST00000394353.2_Missense_Mutation_p.V486A|GSN_ENST00000436847.1_Missense_Mutation_p.V486A|GSN_ENST00000412819.1_Missense_Mutation_p.V475A|GSN_ENST00000373818.4_Missense_Mutation_p.V526A|GSN_ENST00000341272.2_Missense_Mutation_p.V475A|GSN_ENST00000373808.2_Missense_Mutation_p.V475A|GSN_ENST00000545652.1_Missense_Mutation_p.V483A|GSN_ENST00000373807.1_Missense_Mutation_p.V257A|GSN_ENST00000449733.1_Missense_Mutation_p.V475A			P06396	GELS_HUMAN	gelsolin	526	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	p.V526A(2)|p.V475A(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CAGAGCCGTGTGGTCCAAGGC	0.637000													4	20					0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158368914	158368914	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:158368914G>T	ENST00000334438.1	-	1	342	c.343C>A	c.(343-345)Ctc>Atc	p.L115I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L115I(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ACAGCAATGAGGAGGCAGTTG	0.498000													43	193					6.21074e-16	8.12876e-16	1	1	0
SLC12A8	84561	broad.mit.edu	37	3	124802813	124802813	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:124802813T>A	ENST00000423114.2	-	14	2152	c.2153A>T	c.(2152-2154)gAg>gTg	p.E718V	SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.E689V|SLC12A8_ENST00000393469.4_Missense_Mutation_p.E689V|SLC12A8_ENST00000314584.7_Missense_Mutation_p.E350V|SLC12A8_ENST00000430155.2_Missense_Mutation_p.E490V			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	689					potassium ion transport	integral to membrane	symporter activity	p.E727V(2)|p.E689V(2)		endometrium(2)|kidney(2)|lung(12)	16						GTCTGCATTCTCCTGGGTGAG	0.587000													32	57					0	0	1	0	0
ZNF621	285268	broad.mit.edu	37	3	40573808	40573808	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:40573808G>C	ENST00000339296.5	+	5	999	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.E183Q|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.E72Q	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E183Q(2)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TAAGTGTAAGGAGTGTGGCAA	0.403000													31	72					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799229	5799229	+	Silent	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:5799229A>T	ENST00000317093.2	-	1	668	c.636T>A	c.(634-636)gcT>gcA	p.A212A	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A212A(2)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CAATCAGGAGAGCAACCATTA	0.428000													97	679					0	0	1	0	0
FGF10	2255	broad.mit.edu	37	5	44305247	44305247	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:44305247A>T	ENST00000264664.4	-	3	591	c.477T>A	c.(475-477)aaT>aaA	p.N159K		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	159					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	p.N159K(2)		haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TATTGTATCCATTTTCCTCTA	0.378000													175	516					0	0	1	0	0
DHRS11	79154	broad.mit.edu	37	17	34951468	34951468	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:34951468C>T	ENST00000251312.5	+	2	427	c.215C>T	c.(214-216)tCa>tTa	p.S72L	DHRS11_ENST00000590554.1_5'UTR|DHRS11_ENST00000394445.1_3'UTR	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	72						extracellular region	binding|oxidoreductase activity	p.S72L(2)		endometrium(1)|lung(4)	5						TGTGACCTATCAAATGAAGAG	0.537000													22	109					0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3452610	3452610	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:3452610G>T	ENST00000589123.1	+	8	1308	c.1188G>T	c.(1186-1188)ccG>ccT	p.P396P	NFIC_ENST00000443272.2_Silent_p.P405P|NFIC_ENST00000586919.1_Silent_p.P372P|NFIC_ENST00000590282.1_Silent_p.P405P|NFIC_ENST00000395111.3_Silent_p.P396P|NFIC_ENST00000346156.5_Silent_p.P372P|NFIC_ENST00000341919.3_Silent_p.P405P	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	405					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P396P(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CCCAGGACCCGCTCAAAGATC	0.652000													3	16					0.004672	0.00486325	1	1	0
IFNL3	282617	broad.mit.edu	37	19	39734774	39734774	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:39734774C>G	ENST00000413851.2	-	3	320	c.282G>C	c.(280-282)ttG>ttC	p.L94F		NM_172139.2	NP_742151.2			interferon, lambda 3									p.L94F(2)									GCTCAGCCTCCAAAGCCACGG	0.637000													8	24					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37533689	37533689	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:37533689G>T	ENST00000216223.5	-	6	673	c.475C>A	c.(475-477)Cac>Aac	p.H159N		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	159	Fibronectin type-III.				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	p.H159N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCAAAGTAGTGGGAGGCTTGG	0.587000													14	68					3.27435e-08	3.75216e-08	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121650791	121650791	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:121650791C>G	ENST00000393386.2	+	12	2102	c.1691C>G	c.(1690-1692)tCt>tGt	p.S564C	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S564C	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	564					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.S564C(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATACAGTTTCTATAACAGAA	0.423000													65	64					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88337916	88337916	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:88337916A>G	ENST00000418177.2	-	5	1731	c.1364T>C	c.(1363-1365)cTa>cCa	p.L455P	GRM5_ENST00000455756.2_Missense_Mutation_p.L455P|GRM5_ENST00000393297.1_Missense_Mutation_p.L455P|GRM5_ENST00000305432.5_Missense_Mutation_p.L455P|GRM5_ENST00000305447.4_Missense_Mutation_p.L455P			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	455					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.L455P(4)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTCATCGAATAGGATCGTATC	0.433000													42	58					0	0	1	0	0
GATA4	2626	broad.mit.edu	37	8	11607724	11607724	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:11607724C>G	ENST00000335135.4	+	4	1446	c.888C>G	c.(886-888)ggC>ggG	p.G296G	GATA4_ENST00000532059.1_Silent_p.G297G|GATA4_ENST00000528712.1_Silent_p.G90G	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	296			G -> S (in ASD2).		atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.G296G(2)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		ATGCCTGCGGCCTCTACATGA	0.637000													15	34					0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5141584	5141584	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:5141584G>T	ENST00000380554.3	+	5	1165	c.513G>T	c.(511-513)agG>agT	p.R171S	AKR1C3_ENST00000439082.2_Missense_Mutation_p.R52S|AKR1C3_ENST00000605149.1_Missense_Mutation_p.R148S	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	171					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.R171S(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TCAACCGCAGGCAGCTGGAGA	0.527000													104	216					6.99195e-59	1.26566e-58	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2876097	2876097	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:2876097G>C	ENST00000602557.1	-	53	8489	c.7934C>G	c.(7933-7935)gCt>gGt	p.A2645G	CSMD1_ENST00000537824.1_Missense_Mutation_p.A2644G|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000520002.1_Missense_Mutation_p.A2645G|CSMD1_ENST00000542608.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2645	Sushi 17.					integral to membrane		p.A2644G(2)|p.A2373G(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGTAAATATAGCTGTGGCCCC	0.483000													83	442					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432903	104432903	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:104432903G>T	ENST00000361820.3	-	3	2391	c.1791C>A	c.(1789-1791)ctC>ctA	p.L597L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	597					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.L597L(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTACAATATAGAGGTCGAAGT	0.453000													18	166					1.40151e-16	1.85249e-16	1	1	0
SCN3A	6328	broad.mit.edu	37	2	165984466	165984466	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:165984466C>A	ENST00000360093.3	-	18	3559	c.3068G>T	c.(3067-3069)cGg>cTg	p.R1023L	SCN3A_ENST00000409101.3_Missense_Mutation_p.R974L|SCN3A_ENST00000283254.7_Missense_Mutation_p.R1023L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1023						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1023L(2)|p.R974L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GAAACACTCCCGCATCTTATT	0.358000													23	45					1.55469e-16	2.04989e-16	1	1	0
DIAPH3	81624	broad.mit.edu	37	13	60490351	60490351	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:60490351C>A	ENST00000400324.4	-	19	2423	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Nonsense_Mutation_p.E665*|DIAPH3_ENST00000400320.1_Nonsense_Mutation_p.E689*|DIAPH3_ENST00000400330.1_Nonsense_Mutation_p.E735*|DIAPH3_ENST00000377908.2_Nonsense_Mutation_p.E724*|DIAPH3_ENST00000267215.4_Nonsense_Mutation_p.E735*	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	735	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.E735*(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTGATTTCCTCATATGGCACC	0.348000													86	202					2.29255e-20	3.23014e-20	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129674483	129674483	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:129674483C>T	ENST00000421865.2	+	32	4747	c.4698C>T	c.(4696-4698)cgC>cgT	p.R1566R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1566	Laminin EGF-like 17.				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	p.R1566R(2)		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)		GGCATGCACGCGAGGGCTGGG	0.537000													171	137					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9968420	9968420	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:9968420C>T	ENST00000264833.4	-	3	516	c.331G>A	c.(331-333)Gat>Aat	p.D111N	OLFM2_ENST00000590841.1_Missense_Mutation_p.D33N	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	111						extracellular region		p.D111N(3)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						AGGGACCCATCAGCTGCCCGG	0.577000													29	32					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58979381	58979381	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:58979381G>T	ENST00000361050.3	-	1	1043	c.958C>A	c.(958-960)Cct>Act	p.P320T		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	320	MACPF.					integral to membrane		p.P320T(2)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGCAAGTCAGGTAGCATGTTG	0.557000													62	78					1.20869e-33	1.96781e-33	1	1	0
ZNF845	91664	broad.mit.edu	37	19	53854476	53854476	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:53854476G>C	ENST00000458035.1	+	4	665	c.548G>C	c.(547-549)aGg>aCg	p.R183T	ZNF845_ENST00000595091.1_Missense_Mutation_p.R183T	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R183T(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATTTCTTGTAGGCCTAAAACC	0.373000													12	50					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396952	197396952	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:197396952G>T	ENST00000367397.1	+	3	1498	c.640G>T	c.(640-642)Ggt>Tgt	p.G214C	CRB1_ENST00000544212.1_Missense_Mutation_p.G314C|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.G721C|CRB1_ENST00000535699.1_Missense_Mutation_p.G764C|CRB1_ENST00000367400.3_Missense_Mutation_p.G833C			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	833	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.G833C(2)		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						CATCTACATTGGTGGCCTACC	0.378000													78	80					6.21051e-42	1.05956e-41	1	1	0
NF1	4763	broad.mit.edu	37	17	29657518	29657518	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:29657518T>A	ENST00000358273.4	+	39	6195		c.e39+2		NF1_ENST00000581113.2_Splice_Site|NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(7)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCAAATCTAGTAAGTAATGAT	0.323000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			23	26					0	0	1	0	0
LOC100420587	100420587	broad.mit.edu	37	19	29215153	29215153	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:29215153C>A	ENST00000592347.1	-	0	388																											GACTGTCCGCCATCCAGATGG	0.443000													8	40					0.00448238	0.00467498	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058156	152058156	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:152058156G>A	ENST00000368806.1	-	3	2066	c.2002C>T	c.(2002-2004)Ctg>Ttg	p.L668L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	668							calcium ion binding	p.L668L(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCTATTTCCAGGGACTTTCTA	0.507000													72	392					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282950	52282950	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:52282950G>T	ENST00000301190.6	+	3	723	c.496G>T	c.(496-498)Gac>Tac	p.D166Y	ANKRD33_ENST00000340970.4_Missense_Mutation_p.D31Y|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Intron	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	31								p.D166Y(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CAAAGGAGGGGACACGGCCCT	0.612000													8	70					2.80697e-09	3.25853e-09	1	1	0
FAM98A	25940	broad.mit.edu	37	2	33810265	33810265	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:33810265G>A	ENST00000238823.8	-	8	1275	c.1135C>T	c.(1135-1137)Cat>Tat	p.H379Y	FAM98A_ENST00000441530.2_Missense_Mutation_p.H184Y|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	380	Gly-rich.							p.H379Y(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCTCCTTGATGCTTATTTCCT	0.567000													90	226					0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159680488	159680488	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:159680488T>C	ENST00000393977.3	-	7	1490	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.H354R	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	402						nucleus		p.H402R(2)		endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATGGCCATATGCATGCTAAG	0.607000													116	97					0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130588868	130588868	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:130588868C>A	ENST00000344849.3	-	4	724	c.444G>T	c.(442-444)gaG>gaT	p.E148D	ENG_ENST00000373203.4_Missense_Mutation_p.E148D			P17813	EGLN_HUMAN	endoglin	148					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	p.E148D(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CAGCTGCCCACTCAAGGATCT	0.612000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				3	13					0.150653	0.150936	1	1	0
CHIT1	1118	broad.mit.edu	37	1	203192633	203192633	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:203192633G>T	ENST00000367229.1	-	5	504	c.470C>A	c.(469-471)aCc>aAc	p.T157N	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.T138N|CHIT1_ENST00000535569.1_Missense_Mutation_p.T148N	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	157					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	p.T157N(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTGTACCAGGGTTGTGAAGCG	0.627000													21	95					4.62619e-21	6.60531e-21	1	1	0
ADAM7	8756	broad.mit.edu	37	8	24350690	24350690	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:24350690A>T	ENST00000175238.6	+	16	1873	c.1790A>T	c.(1789-1791)gAt>gTt	p.D597V	ADAM7_ENST00000380789.1_Missense_Mutation_p.D597V|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.D369V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	597	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.D597V(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTATACCATGATTCTACAGAC	0.403000													54	95					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29667614	29667614	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:29667614T>A	ENST00000358273.4	+	47	7396	c.7013T>A	c.(7012-7014)cTt>cAt	p.L2338H	NF1_ENST00000417592.2_Missense_Mutation_p.L51H|NF1_ENST00000356175.3_Missense_Mutation_p.L2317H|NF1_ENST00000444181.2_Missense_Mutation_p.L131H	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2338					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.L2338H(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCGCACTTCTTGAACAAAAC	0.443000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	76					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	2990067	2990067	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:2990067G>T	ENST00000381127.1	+	3	233	c.11_splice	c.e3-1	p.R4_splice	ARSF_ENST00000537104.1_Splice_Site_p.R4_splice|ARSF_ENST00000359361.2_Splice_Site_p.R4_splice	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	4						extracellular region	arylsulfatase activity|metal ion binding	p.R4S(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCTTTCCAGGAGACCCTTGG	0.493000													63	180					1.15062e-32	1.85628e-32	1	1	0
ANKRD24	170961	broad.mit.edu	37	19	4219712	4219712	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:4219712G>T	ENST00000600132.1	+	19	3404	c.3128G>T	c.(3127-3129)cGg>cTg	p.R1043L	ANKRD24_ENST00000318934.4_Missense_Mutation_p.R1043L|ANKRD24_ENST00000262970.5_Missense_Mutation_p.R1133L	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1043								p.R1133L(2)|p.R608L(2)|p.R1043L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GCCCAGAGCCGGGCCCAGGAG	0.657000													11	23					9.31168e-06	1.02736e-05	1	1	0
OR5M1	390168	broad.mit.edu	37	11	56380768	56380768	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:56380768T>A	ENST00000526538.1	-	1	210	c.211A>T	c.(211-213)Att>Ttt	p.I71F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I71F(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GAATAGCAAATGTCTACAAAG	0.468000													160	236					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134042065	134042065	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:134042065G>T	ENST00000220616.4	+	41	7076		c.e41-1		TG_ENST00000377869.1_Splice_Site|TG_ENST00000519543.1_Splice_Site|TG_ENST00000542445.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.?(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTTTCTGAAGGGTCCGGAGA	0.572000													29	33					1.69901e-12	2.07614e-12	1	1	0
HSPA6	3310	broad.mit.edu	37	1	161496061	161496061	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:161496061T>A	ENST00000309758.4	+	1	2026	c.1613T>A	c.(1612-1614)gTg>gAg	p.V538E		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	538					response to unfolded protein		ATP binding	p.V538E(2)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGGGACAGAGTGGCTGCCAAA	0.547000													3	19					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168201305	168201305	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:168201305C>A	ENST00000519560.1	-	13	1649	c.1230G>T	c.(1228-1230)ctG>ctT	p.L410L	SLIT3_ENST00000332966.8_Silent_p.L410L|SLIT3_ENST00000404867.3_Silent_p.L410L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	410					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.L410L(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTTGTCATACAGGGAGAGCA	0.567000													289	422					7.22585e-116	1.45608e-115	1	1	0
NECAB1	64168	broad.mit.edu	37	8	91937778	91937778	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:91937778G>T	ENST00000417640.2	+	7	847	c.510G>T	c.(508-510)aaG>aaT	p.K170N		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	170					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	p.K170N(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GGCCAGCCAAGCCAGAAGTCC	0.483000													10	66					1.08611e-07	1.23138e-07	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22155180	22155180	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:22155180C>T	ENST00000397126.4	-	4	2804	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.E786K(4)|p.E886K(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGGGTTTCTCTCCAGTATGA	0.378000													30	90					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440930	124440930	+	Missense_Mutation	SNP	G	G	T	rs145520583		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:124440930G>T	ENST00000284287.3	+	1	1038	c.966G>T	c.(964-966)agG>agT	p.R322S		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R322S(2)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AAACGCTGAGGGGTAAACTGT	0.443000													94	164					1.18697e-83	2.32176e-83	1	1	0
KHNYN	23351	broad.mit.edu	37	14	24901180	24901180	+	Missense_Mutation	SNP	G	G	T	rs142344659		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:24901180G>T	ENST00000251343.5	+	3	852	c.713G>T	c.(712-714)gGa>gTa	p.G238V	KHNYN_ENST00000556842.1_Missense_Mutation_p.G238V|KHNYN_ENST00000553935.1_Missense_Mutation_p.G238V			O15037	KHNYN_HUMAN	KH and NYN domain containing	238								p.G238V(2)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTGGACACTGGATCTATGGGA	0.627000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	29					8.4185e-14	1.06276e-13	1	1	0
PRDM2	7799	broad.mit.edu	37	1	14106677	14106677	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:14106677G>T	ENST00000235372.7	+	8	3243	c.2387G>T	c.(2386-2388)aGc>aTc	p.S796I	PRDM2_ENST00000343137.4_Missense_Mutation_p.S595I|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.S796I|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S595I	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	796						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S796I(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAAACTGTGAGCCCTCCATGC	0.468000													71	83					5.82419e-33	9.4246e-33	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11486977	11486977	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:11486977C>A	ENST00000423059.3	-	12	2931	c.2680G>T	c.(2680-2682)Gcc>Tcc	p.A894S	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	894						integral to membrane		p.A894S(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGGGTAAGGGCTGGCACAGGG	0.507000										HNSCC(18;0.044)			73	135					1.42382e-21	2.03839e-21	1	1	0
CCDC136	64753	broad.mit.edu	37	7	128452071	128452071	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:128452071G>T	ENST00000297788.4	+	13	2613	c.2246G>T	c.(2245-2247)gGt>gTt	p.G749V	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	749						integral to membrane	protein binding	p.G749F(4)|p.G865F(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AAGAGCTATGGTAGCATGGTC	0.498000													104	115					4.22328e-53	7.49246e-53	1	1	0
OR13C3	138803	broad.mit.edu	37	9	107298376	107298376	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:107298376G>C	ENST00000374781.2	-	1	761	c.719C>G	c.(718-720)cCa>cGa	p.P240R		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P240R(2)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GACCATCAGTGGAAGAACCAG	0.428000													54	253					0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698533	111698533	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:111698533C>A	ENST00000340433.2	+	1	807	c.577C>A	c.(577-579)Cag>Aag	p.Q193K		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	193							nucleic acid binding|zinc ion binding	p.Q193K(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGATCCCAACCAGGATGAAGA	0.473000													379	305					2.5488e-171	5.21479e-171	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131830026	131830026	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:131830026C>A	ENST00000359827.3	-	29	6039	c.5077G>T	c.(5077-5079)Gat>Tat	p.D1693Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1693Y			Q9HCM2	PLXA4_HUMAN	plexin A4	1693						integral to membrane|intracellular|plasma membrane		p.D1693Y(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAGAGGTCATCCACAAACTTC	0.537000													180	111					2.4992e-98	4.94287e-98	1	1	0
NMD3	51068	broad.mit.edu	37	3	160945076	160945076	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:160945076A>T	ENST00000460469.1	+	3	676	c.221A>T	c.(220-222)gAa>gTa	p.E74V	NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000351193.2_Missense_Mutation_p.E74V|NMD3_ENST00000472947.1_Missense_Mutation_p.E74V			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	74					protein transport	cytoplasm|nucleolus|nucleoplasm		p.E74V(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TGTGCTTTAGAATCCAGGGAA	0.358000													14	59					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68708818	68708818	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:68708818C>A	ENST00000303145.7	-	9	1495	c.1409G>T	c.(1408-1410)gGg>gTg	p.G470V	MDM1_ENST00000540418.1_Missense_Mutation_p.G190V|MDM1_ENST00000411698.2_Missense_Mutation_p.G435V	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	470						nucleus		p.G470L(2)|p.G470V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTTCCTGTCCCCTTCCTCTTC	0.498000													59	451					9.48467e-20	1.31896e-19	1	1	0
IGSF11	152404	broad.mit.edu	37	3	118624531	118624531	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:118624531G>T	ENST00000354673.2	-	7	992	c.612C>A	c.(610-612)atC>atA	p.I204I	IGSF11_ENST00000489689.1_Silent_p.I205I|IGSF11_ENST00000393775.2_Silent_p.I205I|IGSF11_ENST00000491903.1_Silent_p.I205I|IGSF11_ENST00000441144.2_Silent_p.I204I|IGSF11_ENST00000425327.2_Silent_p.I204I	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	205	Ig-like C2-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	p.I204I(2)|p.I205I(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACAGGGCACTGATGTTCCGGA	0.473000													33	178					1.59361e-14	2.04564e-14	1	1	0
MYH6	4624	broad.mit.edu	37	14	23871768	23871768	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:23871768C>A	ENST00000405093.3	-	12	1116	c.1046G>T	c.(1045-1047)gGc>gTc	p.G349V	MYH6_ENST00000356287.3_Missense_Mutation_p.G349V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	349	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.G349V(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTGTAGACGCCAGCTTTCTC	0.612000													31	176					1.45844e-13	1.81117e-13	1	1	0
ADAM30	11085	broad.mit.edu	37	1	120438950	120438950	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:120438950C>G	ENST00000369400.1	-	1	168	c.10G>C	c.(10-12)Gtg>Ctg	p.V4L		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	4					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AAGATCTGCACTGACCTCATG	0.532000													4	125					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109284	21109284	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:21109284G>T	ENST00000320704.3	-	1	566	c.567C>A	c.(565-567)cgC>cgA	p.R189R		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R189R(2)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGCAAGCCAGGCGGAGCAGTG	0.572000													105	135					5.10254e-61	9.36342e-61	1	1	0
GDF2	2658	broad.mit.edu	37	10	48413769	48413769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:48413769C>A	ENST00000249598.1	-	2	1258	c.1099G>T	c.(1099-1101)Gat>Tat	p.D367Y		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	367					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.D367Y(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGCGTCACATCGTCAGCCAAG	0.577000													9	23					4.68919e-08	5.33908e-08	1	1	0
KIAA2018	205717	broad.mit.edu	37	3	113388977	113388977	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:113388977G>A	ENST00000316407.4	-	5	560	c.150C>T	c.(148-150)gcC>gcT	p.A50A	KIAA2018_ENST00000491165.1_Silent_p.A50A|KIAA2018_ENST00000478658.1_Silent_p.A50A	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	50	Helix-loop-helix motif.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.A50A(2)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CCTGCTTCAGGGCAGGAGAAC	0.368000													47	234					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198703339	198703339	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:198703339C>G	ENST00000367376.2	+	21	2322	c.2151C>G	c.(2149-2151)ccC>ccG	p.P717P	PTPRC_ENST00000348564.6_Silent_p.P558P|PTPRC_ENST00000442510.2_Silent_p.P719P|PTPRC_ENST00000594404.1_Silent_p.P556P|PTPRC_ENST00000352140.3_Silent_p.P669P	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	717	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.P717P(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCAAAGAACCCAGGAAATACA	0.294000													18	22					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9345212	9345212	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:9345212C>T	ENST00000261336.2	-	12	1406	c.1378G>A	c.(1378-1380)Gtg>Atg	p.V460M	PZP_ENST00000381997.2_Missense_Mutation_p.V329M	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.V460M(1)|p.V329M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTACCAGCCACAGGCTCCAGG	0.502000													11	348					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165548021	165548021	+	Silent	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:165548021A>T	ENST00000264381.3	-	2	967	c.801T>A	c.(799-801)gcT>gcA	p.A267A	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	267					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.A267A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTCTGTTCCTAGCTTCATAAA	0.403000													102	184					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135304240	135304240	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:135304240C>T	ENST00000285968.6	+	29	4059	c.4033C>T	c.(4033-4035)Cac>Tac	p.H1345Y		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1345					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.H1345Y(2)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ACTGACTGCTCACCTAAGCCA	0.502000													32	193					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31104473	31104473	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:31104473C>A	ENST00000304166.4	+	3	367	c.78C>A	c.(76-78)atC>atA	p.I26I	ADCYAP1R1_ENST00000409363.1_Silent_p.I26I|ADCYAP1R1_ENST00000409489.1_Silent_p.I26I|ADCYAP1R1_ENST00000396211.2_Silent_p.I26I	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	26					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.I26I(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CTGACTGCATCTTCAAGAAGG	0.582000													6	46					0.0293803	0.0297706	1	1	0
USH1C	10083	broad.mit.edu	37	11	17554815	17554815	+	Silent	SNP	G	G	T	rs121908370		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:17554815G>T	ENST00000005226.7	-	2	90	c.91C>A	c.(91-93)Cga>Aga	p.R31R	USH1C_ENST00000318024.4_Silent_p.R31R|USH1C_ENST00000527720.1_5'UTR|USH1C_ENST00000527020.1_Silent_p.R31R	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	31					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.R31R(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TGGTACATTCGCAGCACATCA	0.507000													14	106					1.33834e-09	1.56042e-09	1	1	0
LIMA1	51474	broad.mit.edu	37	12	50586249	50586249	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:50586249G>T	ENST00000547825.1	-	3	1489	c.220C>A	c.(220-222)Ccc>Acc	p.P74T	LIMA1_ENST00000394943.3_Missense_Mutation_p.P377T|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552823.1_Missense_Mutation_p.P216T|LIMA1_ENST00000552783.1_Missense_Mutation_p.P217T|LIMA1_ENST00000552491.1_Missense_Mutation_p.P74T|LIMA1_ENST00000341247.4_Missense_Mutation_p.P376T|LIMA1_ENST00000552909.1_Missense_Mutation_p.P216T	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	376					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.P376I(2)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ATTGCTTTGGGAGGAGAACTT	0.448000													38	91					1.56793e-16	2.06225e-16	1	1	0
LAMC1	3915	broad.mit.edu	37	1	183091312	183091312	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:183091312C>A	ENST00000258341.4	+	13	2584	c.2327C>A	c.(2326-2328)cCt>cAt	p.P776H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	776	Laminin EGF-like 7.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.P776H(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTCCGTGTCCTGGAGGTTCA	0.537000													132	830					5.88774e-50	1.03084e-49	1	1	0
NBEA	26960	broad.mit.edu	37	13	35770394	35770394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:35770394G>T	ENST00000540320.1	+	31	5855	c.5321G>T	c.(5320-5322)aGa>aTa	p.R1774I	NBEA_ENST00000310336.4_Missense_Mutation_p.R1774I|NBEA_ENST00000400445.3_Missense_Mutation_p.R1774I|NBEA_ENST00000379939.2_Missense_Mutation_p.R1771I			Q8NFP9	NBEA_HUMAN	neurobeachin	1774						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.R1774I(2)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCATTGAAGAGAGAAACACAA	0.393000													48	114					7.36392e-32	1.18088e-31	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129635942	129635942	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:129635942G>T	ENST00000421865.2	+	24	3603	c.3555_splice	c.e24+1	p.W1185_splice		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1185	Laminin IV type A 2.				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	p.W1185F(2)		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)		ATCCGGACGTGGGTGAGTAGG	0.483000													59	93					7.59065e-32	1.21359e-31	1	1	0
GCN1L1	10985	broad.mit.edu	37	12	120614022	120614022	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:120614022T>A	ENST00000300648.6	-	10	851		c.e10-2			NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)						regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.?(2)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGAAATAGCTAAGGGGGACA	0.502000													67	114					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49831408	49831408	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:49831408C>A	ENST00000527477.1	+	0	1633																											ACTGCAACACCTACAAGTTTT	0.453000													20	29					3.5997e-14	4.59866e-14	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158607828	158607828	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:158607828C>A	ENST00000368148.3	-	36	5364	c.5184G>T	c.(5182-5184)tgG>tgT	p.W1728C	SPTA1_ENST00000368147.3_Missense_Mutation_p.W1728C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1728					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.W1728C(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATACTCTATCCAGGATTCCT	0.408000													199	270					5.68149e-71	1.07968e-70	1	1	0
SLC8A1	6546	broad.mit.edu	37	2	40655830	40655830	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:40655830T>A	ENST00000406785.1	-	2	1780	c.1591A>T	c.(1591-1593)Att>Ttt	p.I531F	SLC8A1_ENST00000405901.3_Missense_Mutation_p.I531F|SLC8A1_ENST00000332839.4_Missense_Mutation_p.I531F|SLC8A1_ENST00000403092.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000542756.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.I531F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.I531F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000402441.1_Missense_Mutation_p.I531F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	531	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.I531F(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCATCAAAAATAGTTACAGTG	0.438000													61	115					0	0	1	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126597	37126597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:37126597G>T	ENST00000336755.5	+	2	374	c.268G>T	c.(268-270)Gag>Tag	p.E90*	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000322831.6_Nonsense_Mutation_p.E89*|ZCCHC7_ENST00000534928.1_Intron	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	90							nucleic acid binding|zinc ion binding	p.E90*(2)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		AGATGGGTCAGAGGTCATCAC	0.398000													29	197					6.03168e-27	9.12441e-27	1	1	0
DST	667	broad.mit.edu	37	6	56516041	56516041	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:56516041G>T	ENST00000370754.5	-	10	1116	c.1115_splice	c.e10-1	p.P373_splice	DST_ENST00000370769.4_Splice_Site_p.P195_splice|DST_ENST00000370788.2_Splice_Site_p.P195_splice|DST_ENST00000312431.6_Splice_Site_p.P195_splice|DST_ENST00000421834.2_Splice_Site_p.P195_splice|DST_ENST00000361203.3_Splice_Site_p.P195_splice			Q03001	DYST_HUMAN	dystonin	195					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.P195M(2)|p.P373M(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCAGGTCCGGCCTAGGAAAA	0.323000													19	23					1.01871e-10	1.21427e-10	1	1	0
NAALAD2	10003	broad.mit.edu	37	11	89896515	89896515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:89896515G>T	ENST00000534061.1	+	10	1343	c.1113G>T	c.(1111-1113)tgG>tgT	p.W371C	NAALAD2_ENST00000525171.1_Missense_Mutation_p.W278C|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.W338C	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	371	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.W371C(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGGACTCCTGGGTATTTGGAG	0.383000													22	127					2.85442e-18	3.88841e-18	1	1	0
GPR112	139378	broad.mit.edu	37	X	135431732	135431732	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:135431732C>T	ENST00000394143.1	+	6	6158	c.5867C>T	c.(5866-5868)tCa>tTa	p.S1956L	GPR112_ENST00000412101.1_Missense_Mutation_p.S1751L|GPR112_ENST00000394141.1_Missense_Mutation_p.S1751L|GPR112_ENST00000287534.4_Missense_Mutation_p.S1893L|GPR112_ENST00000370652.1_Missense_Mutation_p.S1956L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1956					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1956L(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAGAACCCTTCATTATCAACA	0.428000													419	368					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													3	44					0	0	1	0	0
TMEM40	55287	broad.mit.edu	37	3	12777053	12777053	+	Splice_Site	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:12777053C>T	ENST00000314124.7	-	11	1039		c.e11+1		TMEM40_ENST00000435575.1_Splice_Site|TMEM40_ENST00000476331.1_Splice_Site|TMEM40_ENST00000435218.2_Splice_Site|TMEM40_ENST00000431022.2_Splice_Site|TMEM40_ENST00000264728.8_Splice_Site	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40							integral to membrane		p.?(2)		breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TTAAAAGTTACCTGTCAGCCT	0.448000													26	132					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42989121	42989121	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:42989121G>C	ENST00000253408.5	-	5	890	c.825C>G	c.(823-825)ctC>ctG	p.L275L	GFAP_ENST00000435360.2_Silent_p.L275L|GFAP_ENST00000586793.1_Silent_p.L275L|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	275	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.L275L(4)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGCCTGGCGGAGCAGCTCCG	0.677000													11	20					0	0	1	0	0
DHFRL1	200895	broad.mit.edu	37	3	93780055	93780055	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:93780055T>A	ENST00000394221.2	-	2	750	c.301A>T	c.(301-303)Act>Tct	p.T101S	DHFRL1_ENST00000481631.1_Intron|DHFRL1_ENST00000314636.2_Missense_Mutation_p.T101S	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	101	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding	p.T101S(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						GGTCGTTCAGTAAGTTTTAAG	0.378000													35	181					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68708819	68708819	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:68708819C>A	ENST00000303145.7	-	9	1494	c.1408G>T	c.(1408-1410)Ggg>Tgg	p.G470W	MDM1_ENST00000540418.1_Missense_Mutation_p.G190W|MDM1_ENST00000411698.2_Missense_Mutation_p.G435W	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	470						nucleus		p.G470L(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTCCTGTCCCCTTCCTCTTCA	0.498000													59	454					1.21505e-20	1.72105e-20	1	1	0
ROBO2	6092	broad.mit.edu	37	3	77684057	77684057	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:77684057C>A	ENST00000461745.1	+	24	4697	c.3797C>A	c.(3796-3798)aCc>aAc	p.T1266N	ROBO2_ENST00000332191.8_Missense_Mutation_p.T1327N|ROBO2_ENST00000487694.3_Missense_Mutation_p.T1282N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1266					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.T1282N(2)|p.T1266N(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCTCGACCTACCAGCCCATTT	0.463000													93	175					5.09e-60	9.30843e-60	1	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113519512	113519512	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:113519512C>G	ENST00000284601.3	-	4	1703	c.1635G>C	c.(1633-1635)atG>atC	p.M545I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	545					glycogen metabolic process	integral to membrane		p.M545I(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TAGGGTTACCCATCTTCCTTT	0.413000													104	87					0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117289	46117289	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr21:46117289T>A	ENST00000400365.3	+	1	203	c.173T>A	c.(172-174)gTa>gAa	p.V58E	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	58	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.V58E(2)		large_intestine(1)|lung(8)	9						GTGAGCCGTGTATCCAGCCCC	0.692000													14	86					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34139979	34139979	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:34139979G>T	ENST00000257829.3	+	8	915	c.709G>T	c.(709-711)Gag>Tag	p.E237*	NAT10_ENST00000531159.2_Nonsense_Mutation_p.E165*|NAT10_ENST00000527971.1_Nonsense_Mutation_p.E237*	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	237						nucleolus	ATP binding|N-acetyltransferase activity|protein binding	p.E237*(2)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGAGCTGAGGGAGTTGAAGGA	0.532000													43	73					6.31075e-24	9.33502e-24	1	1	0
FER1L6	654463	broad.mit.edu	37	8	125083827	125083827	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:125083827G>A	ENST00000522917.1	+	31	4253	c.4047G>A	c.(4045-4047)ccG>ccA	p.P1349P	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.P1349P	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1349	C2 5.					integral to membrane		p.P1349P(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGGGATTCCGCCCAATCACC	0.527000													12	141					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55359150	55359150	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:55359150G>A	ENST00000536015.1	-	12	1228	c.1109C>T	c.(1108-1110)tCt>tTt	p.S370F	ATP8B1_ENST00000283684.4_Missense_Mutation_p.S370F|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	370					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S370F(2)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GAGGTACCAAGAGGAATTGCC	0.448000													20	56					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23517995	23517995	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:23517995C>A	ENST00000296682.3	+	5	489	c.307C>A	c.(307-309)Cct>Act	p.P103T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	103					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.P103T(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TTTAGTCAAACCTCCTTGGAT	0.358000										HNSCC(3;0.000094)			104	412					6.70566e-67	1.26531e-66	1	1	0
COX6B1	1340	broad.mit.edu	37	19	36145541	36145541	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:36145541C>T	ENST00000246554.3	+	3	367	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	COX6B1_ENST00000392201.1_Missense_Mutation_p.R59C|COX6B1_ENST00000592141.1_Missense_Mutation_p.R59C	NM_001863.4	NP_001854.1	P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	59					respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity	p.R76C(2)|p.R59C(2)		lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGGTACCAGCGTGTGTACCA	0.582000													34	135					0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58275002	58275002	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:58275002T>A	ENST00000360374.2	-	1	576	c.577A>T	c.(577-579)Agc>Tgc	p.S193C		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S193C(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACCAACTTGCTGATGCGTGTG	0.463000													41	249					0	0	1	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60015426	60015426	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:60015426G>A	ENST00000586569.1	+	2	139	c.101G>A	c.(100-102)tGt>tAt	p.C34Y	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.C34Y	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	34					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	p.C34Y(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GCTCCTCCATGTACCAGTGAG	0.483000													38	92					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52287227	52287227	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:52287227C>A	ENST00000356297.4	-	18	3722	c.3622G>T	c.(3622-3624)Ggt>Tgt	p.G1208C	PXDNL_ENST00000543296.1_Missense_Mutation_p.G1208C	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1208					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.G407C(2)|p.G1208C(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACTCTTGTACCAGGAATCAGG	0.478000													9	71					6.40141e-05	6.90576e-05	1	1	0
ALPI	248	broad.mit.edu	37	2	233321921	233321921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:233321921C>A	ENST00000295463.3	+	5	614	c.537C>A	c.(535-537)taC>taA	p.Y179*		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	179					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.Y179*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGGCACCTACGCACACACAG	0.607000													7	24					0.000157383	0.0001691	1	1	0
DPYSL5	56896	broad.mit.edu	37	2	27150120	27150120	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:27150120G>T	ENST00000288699.6	+	4	578		c.e4-1		DPYSL5_ENST00000401478.1_Splice_Site	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5						axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.?(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTTCTCCAGGTGAAAGCAG	0.577000													31	44					2.85442e-18	3.88841e-18	1	1	0
RASIP1	54922	broad.mit.edu	37	19	49224136	49224136	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:49224136G>T	ENST00000222145.4	-	12	3015	c.2811C>A	c.(2809-2811)ctC>ctA	p.L937L		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	937					signal transduction	Golgi stack|perinuclear region of cytoplasm		p.L937L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGAGGCGGCGGAGCCTACGGA	0.647000													4	27					0.00024832	0.000265737	1	1	0
ACSL6	23305	broad.mit.edu	37	5	131323838	131323838	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:131323838C>A	ENST00000379264.2	-	7	842	c.734G>T	c.(733-735)gGc>gTc	p.G245V	ACSL6_ENST00000379272.2_Missense_Mutation_p.G235V|ACSL6_ENST00000543479.1_Missense_Mutation_p.G220V|ACSL6_ENST00000379244.1_Missense_Mutation_p.G220V|ACSL6_ENST00000379255.1_Missense_Mutation_p.G185V|ACSL6_ENST00000431707.1_Missense_Mutation_p.G200V|ACSL6_ENST00000357096.1_Missense_Mutation_p.G185V|ACSL6_ENST00000379249.3_Missense_Mutation_p.G220V|ACSL6_ENST00000379246.1_Missense_Mutation_p.G231V|ACSL6_ENST00000379240.1_Missense_Mutation_p.G220V|ACSL6_ENST00000296869.4_Missense_Mutation_p.G245V|ACSL6_ENST00000544770.1_Missense_Mutation_p.G129V	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	220					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G245F(4)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCTTGAGGCCTGGAGTCTC	0.567000													170	198					2.91321e-64	5.4204e-64	1	1	0
DCHS1	8642	broad.mit.edu	37	11	6661905	6661905	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:6661905G>A	ENST00000299441.3	-	2	1351	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	314	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L314L(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTAACTGCAGCAGCCCCGTG	0.617000													7	48					0	0	1	0	0
HOXB8	3218	broad.mit.edu	37	17	46690585	46690585	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:46690585C>A	ENST00000239144.4	-	2	945	c.711G>T	c.(709-711)gcG>gcT	p.A237A	HOXB7_ENST00000567101.1_Intron|HOXB8_ENST00000576562.1_Silent_p.A236A	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	237						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A237A(2)		large_intestine(1)|lung(8)|urinary_tract(2)	11						CGCCCTTCTGCGCGTCGCCCT	0.706000													10	16					1.15919e-05	1.27106e-05	1	1	0
PTK2B	2185	broad.mit.edu	37	8	27312084	27312084	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:27312084G>T	ENST00000397501.1	+	35	3578	c.2770G>T	c.(2770-2772)Gtg>Ttg	p.V924L	PTK2B_ENST00000338238.4_Missense_Mutation_p.V882L|PTK2B_ENST00000517339.1_Missense_Mutation_p.V882L|PTK2B_ENST00000346049.5_Missense_Mutation_p.V924L|PTK2B_ENST00000420218.2_Missense_Mutation_p.V882L|PTK2B_ENST00000544172.1_Missense_Mutation_p.V924L	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	924	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.V924L(4)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CATCGGGAGCGTGGATGATCT	0.587000													11	32					2.61681e-11	3.16149e-11	1	1	0
FLNC	2318	broad.mit.edu	37	7	128487758	128487758	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:128487758G>A	ENST00000325888.8	+	25	4557	c.4296G>A	c.(4294-4296)ccG>ccA	p.P1432P	FLNC_ENST00000346177.6_Silent_p.P1432P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1432					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.P1432P(3)		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						CAGGGAGCCCGTTCCGCGTGC	0.647000													11	42					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	549257	549257	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:549257C>G	ENST00000230449.4	-	22	2291	c.2156G>C	c.(2155-2157)tGc>tCc	p.C719S	EXOC2_ENST00000448181.3_Missense_Mutation_p.C314S	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	719					exocytosis|protein transport			p.C719S(2)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTCTAGATAGCAGCAATTACT	0.373000													81	341					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30492758	30492758	+	Splice_Site	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:30492758A>G	ENST00000356798.6	+	7	756		c.e7-1		ITGAL_ENST00000454514.2_Splice_Site|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Splice_Site|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)						blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.?(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTCCTTTTCTAGTTTGCTGCT	0.338000													28	22					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100373932	100373932	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:100373932G>A	ENST00000273352.3	+	12	1901	c.1633G>A	c.(1633-1635)Gca>Aca	p.A545T	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.A250T	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	545					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A545T(2)		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						TACCTGGAACGCACTCAGCGC	0.458000													111	534					0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54572988	54572988	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:54572988T>C	ENST00000251636.5	-	13	2380	c.2232A>G	c.(2230-2232)acA>acG	p.T744T	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	744	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	p.T744T(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GTGTGAAATATGTAGAAAATT	0.363000													38	176					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34064246	34064246	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr15:34064246C>A	ENST00000389232.4	+	63	9012	c.8942C>A	c.(8941-8943)aCg>aAg	p.T2981K	RYR3_ENST00000415757.3_Missense_Mutation_p.T2981K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2981					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.T2981K(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATTCCCGAACGCAGATTAAA	0.463000													14	53					3.45872e-05	3.7693e-05	1	1	0
OR6K3	391114	broad.mit.edu	37	1	158687606	158687606	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:158687606C>A	ENST00000368146.1	-	1	347	c.348G>T	c.(346-348)caG>caT	p.Q116H	OR6K3_ENST00000368145.1_Missense_Mutation_p.Q100H			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q116H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGAAATACATCTGCAAGATGC	0.483000													115	695					3.31366e-66	6.23061e-66	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139749775	139749775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:139749775C>A	ENST00000303045.6	-	23	2577	c.2131G>T	c.(2131-2133)Ggg>Tgg	p.G711W	COL22A1_ENST00000435777.1_Missense_Mutation_p.G711W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	711	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G711W(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCTGCAGCCCCAGCAATCCA	0.473000										HNSCC(7;0.00092)			24	224					3.80469e-20	5.3466e-20	1	1	0
COX6B2	125965	broad.mit.edu	37	19	55865866	55865866	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:55865866C>A	ENST00000593184.1	-	2	103	c.24G>T	c.(22-24)gaG>gaT	p.E8D	COX6B2_ENST00000588572.1_Missense_Mutation_p.E8D|CTD-2105E13.6_ENST00000591954.3_3'UTR|COX6B2_ENST00000590900.1_Missense_Mutation_p.E8D|COX6B2_ENST00000326529.4_Missense_Mutation_p.E8D			Q6YFQ2	CX6B2_HUMAN	cytochrome c oxidase subunit VIb polypeptide 2 (testis)	8						mitochondrial crista|mitochondrial intermembrane space	cytochrome-c oxidase activity	p.E8D(2)		endometrium(1)|kidney(1)|lung(2)|pancreas(1)	5	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCTTGGGGGGCTCCTGGGCTT	0.667000													5	35					0.00116845	0.00123067	1	1	0
SAA4	6291	broad.mit.edu	37	11	18253967	18253967	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:18253967C>A	ENST00000278222.4	-	3	385	c.205G>T	c.(205-207)Ggt>Tgt	p.G69C	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2			serum amyloid A4, constitutive									p.G69C(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GCCCAGACACCCCCAGGTCCT	0.507000													83	403					6.42612e-47	1.11053e-46	1	1	0
OR2T27	403239	broad.mit.edu	37	1	248813304	248813304	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:248813304G>T	ENST00000344889.3	-	1	881	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N294K(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGACATCCTTGTTCCTAAGGC	0.478000													110	166					3.83347e-80	7.41694e-80	1	1	0
RORB	6096	broad.mit.edu	37	9	77257566	77257566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:77257566G>T	ENST00000376896.2	+	4	1084	c.472G>T	c.(472-474)Gtc>Ttc	p.V158F	RORB_ENST00000396204.2_Missense_Mutation_p.V169F	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	169	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.V158F(2)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TTATTACAACGTCGATTCCGG	0.512000													60	98					1.80625e-27	2.75583e-27	1	1	0
DLGAP2	9228	broad.mit.edu	37	8	1497137	1497137	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:1497137G>A	ENST00000421627.2	+	2	412	c.278G>A	c.(277-279)cGc>cAc	p.R93H		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	172					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.R137H(1)|p.R115H(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TACGACACGCGCGACGACTGC	0.677000													3	31					0	0	1	0	0
RNASE2	6036	broad.mit.edu	37	14	21424301	21424301	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:21424301G>C	ENST00000304625.2	+	2	461	c.371G>C	c.(370-372)aGg>aCg	p.R124T		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	124					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	p.R124T(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TCAAACTGCAGGTATGCGCAG	0.458000													174	454					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168093468	168093468	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:168093468C>A	ENST00000519560.1	-	36	4982	c.4563G>T	c.(4561-4563)gcG>gcT	p.A1521A	CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Silent_p.A1528A	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1521	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.A1521A(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTAGGAACACGCGAGGCAGC	0.612000													6	13					0.0215528	0.0219641	1	1	0
APOC4-APOC2	100533990	broad.mit.edu	37	19	45448098	45448098	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:45448098C>A	ENST00000419266.2	+	2	209	c.169C>A	c.(169-171)Ctg>Atg	p.L57M	APOC4-APOC2_ENST00000436871.1_Missense_Mutation_p.L57M|APOC4_ENST00000591600.1_Missense_Mutation_p.L57M|APOC4-APOC2_ENST00000589057.1_Missense_Mutation_p.L57M|APOC4_ENST00000592954.1_Missense_Mutation_p.L57M														p.L57M(1)									GATGAAGGAGCTGCTGGAGAC	0.627000													4	15					0.150653	0.150936	1	1	0
KRTAP3-1	83896	broad.mit.edu	37	17	39165133	39165133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:39165133C>G	ENST00000391588.1	-	1	233	c.194G>C	c.(193-195)tGc>tCc	p.C65S	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	65						keratin filament	structural molecule activity	p.C65S(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				GAGCAGCCAGCAAGTTGGCAC	0.597000													43	48					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826786	46826786	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:46826786T>C	ENST00000283296.7	-	17	3142	c.2854A>G	c.(2854-2856)Acg>Gcg	p.T952A	GPR116_ENST00000545669.1_Missense_Mutation_p.T381A|GPR116_ENST00000456426.2_Missense_Mutation_p.T810A|GPR116_ENST00000362015.4_Missense_Mutation_p.T952A|GPR116_ENST00000265417.7_Missense_Mutation_p.T952A	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	952	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T952A(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ACACACTTCGTTTCGCCGCCT	0.488000													53	194					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531657	92531657	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:92531657G>T	ENST00000298047.6	+	9	5495	c.5478G>T	c.(5476-5478)gtG>gtT	p.V1826V	FAT3_ENST00000525166.1_Silent_p.V1676V|FAT3_ENST00000409404.2_Silent_p.V1826V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1826	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1826V(4)		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)				TTTTCACGGTGGACTCCAGTA	0.488000										TCGA Ovarian(4;0.039)			31	30					6.90743e-12	8.4022e-12	1	1	0
SEPT10	151011	broad.mit.edu	37	2	110301779	110301779	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:110301779A>C	ENST00000356688.4	-	12	1870	c.1555T>G	c.(1555-1557)Ttt>Gtt	p.F519V	SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR			Q9P0V9	SEP10_HUMAN	septin 10	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGTTCACCAAATATAGAAGTG	0.338000													5	2					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112356170	112356170	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:112356170C>T	ENST00000361804.4	+	19	2104	c.1978C>T	c.(1978-1980)Cat>Tat	p.H660Y		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	660	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	p.H660Y(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CCAAGTCAGCCATCGGGGTGC	0.358000													57	113					0	0	1	0	0
PIAS3	10401	broad.mit.edu	37	1	145578690	145578690	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:145578690C>T	ENST00000393045.2	+	3	586	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	PIAS3_ENST00000369299.3_Missense_Mutation_p.P157S|PIAS3_ENST00000369298.1_Missense_Mutation_p.P131S	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	166	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	p.P157S(2)|p.P166S(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCCCTCACACCCCAGCAAGT	0.527000													48	287					0	0	1	0	0
PILRA	29992	broad.mit.edu	37	7	99971855	99971855	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:99971855A>T	ENST00000198536.2	+	2	465	c.253A>T	c.(253-255)Agg>Tgg	p.R85W	PILRA_ENST00000474013.1_3'UTR|PILRA_ENST00000453419.1_Missense_Mutation_p.R85W|PILRA_ENST00000394000.2_Missense_Mutation_p.R85W|PILRA_ENST00000350573.2_Missense_Mutation_p.R85W	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	85	Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	p.R85W(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTACAGCACAAGGCCGCCTTC	0.552000													49	45					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73768561	73768561	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:73768561C>T	ENST00000334126.7	-	25	5206	c.4980G>A	c.(4978-4980)tcG>tcA	p.S1660S	C2CD3_ENST00000313663.7_Silent_p.S1660S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1660	C2 2.					centrosome		p.S1660S(4)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AACTGGGTATCGATACTTTCC	0.448000													51	279					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9757860	9757860	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:9757860G>T	ENST00000262441.5	+	5	1066	c.553G>T	c.(553-555)Gga>Tga	p.G185*	GLP2R_ENST00000574745.1_Nonsense_Mutation_p.G5*	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	185					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.G185*(2)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GTACACCGTGGGATACTCCTT	0.517000													243	652					2.09966e-140	4.27946e-140	1	1	0
RASAL2	9462	broad.mit.edu	37	1	178252789	178252789	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:178252789C>T	ENST00000448150.3	+	2	1057	c.239C>T	c.(238-240)aCa>aTa	p.T80I	RASAL2_ENST00000367649.3_Missense_Mutation_p.T98I|RASAL2_ENST00000465723.1_3'UTR	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.T80L(2)|p.T98L(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGCATCCTCACAGACAGCCAG	0.463000													129	792					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624298	53624298	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:53624298C>A	ENST00000219022.2	+	5	1003	c.925C>A	c.(925-927)Ctg>Atg	p.L309M		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	309	Olfactomedin-like.				cell adhesion	extracellular space		p.L309M(2)		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)		GTACAACACACTGGATGATTT	0.433000													71	193					2.14232e-31	3.39466e-31	1	1	0
ATPAF1	64756	broad.mit.edu	37	1	47131032	47131032	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:47131032C>A	ENST00000576409.1	-	2	402	c.340G>T	c.(340-342)Gac>Tac	p.D114Y	EFCAB14_ENST00000544071.1_Missense_Mutation_p.Q375H|ATPAF1_ENST00000532925.1_Missense_Mutation_p.D3Y|ATPAF1_ENST00000542495.1_5'UTR|ATPAF1_ENST00000329231.4_Missense_Mutation_p.D114Y|ATPAF1_ENST00000371937.4_Missense_Mutation_p.D91Y|ATPAF1_ENST00000525633.1_5'UTR|ATPAF1_ENST00000574428.1_Missense_Mutation_p.D91Y			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	91					protein complex assembly	mitochondrion	protein binding	p.D91Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GCAGCTGGGTCTGACCTGATC	0.463000													6	8					5.9392e-07	6.70514e-07	1	1	0
MUC16	94025	broad.mit.edu	37	19	9069492	9069492	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:9069492C>A	ENST00000397910.4	-	3	18157	c.17954G>T	c.(17953-17955)aGt>aTt	p.S5985I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5987	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S5985I(4)|p.S1618I(2)		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						GCTACTTGCACTTGGTAAGGA	0.478000													90	488					2.46799e-47	4.27891e-47	1	1	0
CECR5	27440	broad.mit.edu	37	22	17630516	17630516	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:17630516C>G	ENST00000336737.4	-	2	271	c.246G>C	c.(244-246)cgG>cgC	p.R82R	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Silent_p.R52R|CECR5_ENST00000480451.1_5'UTR	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	82							hydrolase activity	p.R82R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CCACGGGCACCCGCAGCTGCC	0.587000													33	46					0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170428198	170428198	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:170428198C>A	ENST00000439128.2	-	21	2553	c.1913G>T	c.(1912-1914)tGg>tTg	p.W638L	NEK1_ENST00000511633.1_Missense_Mutation_p.W622L|NEK1_ENST00000507142.1_Missense_Mutation_p.W666L|NEK1_ENST00000510533.1_Missense_Mutation_p.W594L|NEK1_ENST00000512193.1_Missense_Mutation_p.W569L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	638					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.W666L(4)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ATGCTCTTCCCACACTTTTTT	0.348000													26	129					1.17739e-12	1.44204e-12	1	1	0
PRKCB	5579	broad.mit.edu	37	16	24166177	24166177	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:24166177T>A	ENST00000303531.7	+	10	1390	c.1239_splice	c.e10+1	p.M413_splice	PRKCB_ENST00000321728.7_Splice_Site_p.M413_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	413	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.M413N(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTCCAGACCATGGTAACTTGT	0.587000													47	40					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33400564	33400564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:33400564C>T	ENST00000418600.2	+	5	591	c.490C>T	c.(490-492)Cga>Tga	p.R164*	SYNGAP1_ENST00000428982.2_Nonsense_Mutation_p.R105*|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Nonsense_Mutation_p.R164*	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	164	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	p.R149*(1)|p.R164*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GCCTCGCTTCCGAAGTGCTGA	0.547000													15	109					0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5981934	5981934	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:5981934C>G	ENST00000531445.1	-	2	1603	c.1557G>C	c.(1555-1557)gaG>gaC	p.E519D	C4orf50_ENST00000324058.5_Missense_Mutation_p.E45D			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	45								p.E45D(2)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GGCGGGTGGCCTCGTCCAGAG	0.677000													3	1					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150948412	150948412	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:150948412G>T	ENST00000261800.5	-	1	93	c.81C>A	c.(79-81)tcC>tcA	p.S27S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	27					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.S27S(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGAGGAGGAGAGAATCC	0.483000													72	106					5.02053e-37	8.35191e-37	1	1	0
FBXO21	23014	broad.mit.edu	37	12	117604777	117604777	+	Silent	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:117604777T>A	ENST00000427718.2	-	8	1193	c.1119A>T	c.(1117-1119)gcA>gcT	p.A373A	FBXO21_ENST00000330622.5_Silent_p.A373A	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	373					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.A373A(2)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CATACAGTGCTGCAGTCACGT	0.478000													64	281					0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153430349	153430349	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:153430349C>A	ENST00000368723.3	-	3	349	c.239G>T	c.(238-240)gGa>gTa	p.G80V	S100A7_ENST00000368722.1_Missense_Mutation_p.G80V	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	80	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	p.G80V(2)		breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTATGTCTCCCAGCAAGGA	0.527000													29	213					4.22769e-11	5.08466e-11	1	1	0
RASAL1	8437	broad.mit.edu	37	12	113553049	113553049	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:113553049G>C	ENST00000546530.1	-	12	1309	c.1024C>G	c.(1024-1026)Cgt>Ggt	p.R342G	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.R342G|RASAL1_ENST00000548055.1_Missense_Mutation_p.R342G|RASAL1_ENST00000261729.5_Missense_Mutation_p.R342G	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	342	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	p.R342G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GAGTTAGAACGGAAGAGGGTG	0.577000													15	51					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30585000	30585000	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr20:30585000G>T	ENST00000217299.3	+	3	1654	c.1480G>T	c.(1480-1482)Ggg>Tgg	p.G494W		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	494						integral to membrane		p.G494W(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAGCGTGCAGGGACCCCCAC	0.692000													4	8					0.0215528	0.0219641	1	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378427	31378427	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:31378427G>A	ENST00000297142.3	-	2	778	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	152					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.I152I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GTCTCTTGCCGATTCTCAGAA	0.458000													28	334					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133673737	133673737	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:133673737G>T	ENST00000519595.1	-	2	245	c.147C>A	c.(145-147)ctC>ctA	p.L49L	LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Silent_p.L49L|LRRC6_ENST00000250173.1_Silent_p.L49L			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	49						cytoplasm		p.L49L(2)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTTGAAGATAGAGAATTTTTA	0.358000													8	26					1.58986e-06	1.78359e-06	1	1	0
NAALAD2	10003	broad.mit.edu	37	11	89891342	89891342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:89891342G>T	ENST00000534061.1	+	7	1056	c.826G>T	c.(826-828)Gga>Tga	p.G276*	NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Nonsense_Mutation_p.G276*	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	276	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.G276*(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGTTGAAGAAGGAGTGGGAAT	0.313000													51	87					4.14589e-37	6.91846e-37	1	1	0
OR8B3	390271	broad.mit.edu	37	11	124266919	124266919	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:124266919G>T	ENST00000354597.3	-	1	345	c.329C>A	c.(328-330)tCt>tAt	p.S110Y		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S110Y(2)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GTAACATTCAGAGATGACAAA	0.383000													49	52					1.45723e-30	2.28871e-30	1	1	0
NRTN	4902	broad.mit.edu	37	19	5824276	5824276	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:5824276G>A	ENST00000303212.2	+	1	464	c.100G>A	c.(100-102)Gga>Aga	p.G34R		NM_004558.3	NP_004549.1	Q99748	NRTN_HUMAN	neurturin	34					axon guidance|MAPKKK cascade|neural crest cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region	growth factor activity			large_intestine(1)	1						CCACCGCCTCGGACCTGCGCT	0.672000													2	3					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67833708	67833708	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:67833708G>T	ENST00000262345.1	+	10	2099	c.1459_splice	c.e10+1	p.E487_splice	IL12RB2_ENST00000544434.1_Splice_Site_p.E487_splice|IL12RB2_ENST00000541374.1_Splice_Site_p.E487_splice|IL12RB2_ENST00000371000.1_Splice_Site_p.E487_splice	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	487	Fibronectin type-III 4.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.E487*(2)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TCTGATTTCAGGTACCTAATT	0.502000													15	195					6.49762e-13	7.97639e-13	1	1	0
SLC44A1	23446	broad.mit.edu	37	9	108127811	108127811	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:108127811G>T	ENST00000374720.3	+	11	1548	c.1301G>T	c.(1300-1302)cGc>cTc	p.R434L	SLC44A1_ENST00000374724.1_Missense_Mutation_p.R434L|SLC44A1_ENST00000374723.1_Missense_Mutation_p.R434L|SLC44A1_ENST00000343170.7_Missense_Mutation_p.R226L	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	434						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.R434L(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TCAGTAAATCGCCTTATTCGT	0.363000													23	156					6.21321e-17	8.29464e-17	1	1	0
GUCY2F	2986	broad.mit.edu	37	X	108652325	108652325	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:108652325C>A	ENST00000218006.2	-	9	2155	c.1864G>T	c.(1864-1866)Gtg>Ttg	p.V622L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	622	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.V622L(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AATTCTGTCACAATGGCAAAC	0.408000													187	197					1.41373e-77	2.72539e-77	1	1	0
MOXD1	26002	broad.mit.edu	37	6	132649636	132649636	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:132649636C>T	ENST00000367963.3	-	5	879	c.761G>A	c.(760-762)gGc>gAc	p.G254D	MOXD1_ENST00000336749.3_Missense_Mutation_p.G186D	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	254					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.G186D(2)|p.G254D(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GCACTCGTGGCCGGACTCCAG	0.517000													77	93					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9967991	9967991	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:9967991C>T	ENST00000264833.4	-	4	713	c.528G>A	c.(526-528)caG>caA	p.Q176Q	OLFM2_ENST00000590841.1_Silent_p.Q98Q	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	176						extracellular region		p.Q176Q(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCACCCGTTGCTGCAGGTCCT	0.647000													26	66					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35737029	35737029	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr20:35737029T>C	ENST00000400441.3	-	23	2952	c.2953A>G	c.(2953-2955)Agg>Ggg	p.R985G	MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000217333.8_Missense_Mutation_p.R814G|MROH8_ENST00000466091.1_5'UTR					maestro heat-like repeat family member 8									p.R985G(2)									GTACCCATCCTCCTGAGCTCA	0.453000													7	10					0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883304	19883304	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:19883304G>T	ENST00000300571.2	-	2	1055	c.864C>A	c.(862-864)gcC>gcA	p.A288A	GPRC5B_ENST00000535671.1_Silent_p.A288A|GPRC5B_ENST00000569847.1_Silent_p.A288A|GPRC5B_ENST00000569479.1_Silent_p.A288A|GPRC5B_ENST00000537135.1_Silent_p.A314A	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	288								p.A288A(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCTCAGGGATGGCGTGGAAGA	0.637000													26	16					5.61819e-17	7.51908e-17	1	1	0
OR51B5	282763	broad.mit.edu	37	11	5364170	5364170	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:5364170C>G	ENST00000300773.2	-	1	639	c.585G>C	c.(583-585)ctG>ctC	p.L195L	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L195L(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCTGGGTACAGTCGGTTGA	0.423000													126	228					0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338093	151338093	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:151338093C>A	ENST00000426705.2	-	9	1260	c.1116G>T	c.(1114-1116)ggG>ggT	p.G372G	SELENBP1_ENST00000435071.1_Silent_p.G266G|SELENBP1_ENST00000447402.3_Silent_p.G268G|SELENBP1_ENST00000368868.5_Silent_p.G330G	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	330					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	p.G330G(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCAGGTCCCCATGCAGCC	0.592000													96	117					8.26238e-36	1.36598e-35	1	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47422455	47422455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:47422455G>T	ENST00000404338.3	+	1	523	c.523G>T	c.(523-525)Gat>Tat	p.D175Y		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	175					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.D175Y(4)									TAGGAACTTTGATGACCAGCT	0.453000													26	176					2.2171e-23	3.27053e-23	1	1	0
INHBB	3625	broad.mit.edu	37	2	121107308	121107308	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:121107308G>T	ENST00000295228.3	+	2	1128	c.1082G>T	c.(1081-1083)cGg>cTg	p.R361L		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	361					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	p.R361L(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TACCGCATGCGGGGTCTGAAC	0.607000													15	10					2.62699e-14	3.36406e-14	1	1	0
TRIML1	339976	broad.mit.edu	37	4	189068316	189068316	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:189068316C>A	ENST00000332517.3	+	6	1337	c.1197C>A	c.(1195-1197)caC>caA	p.H399Q	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	399	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.H399Q(3)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGGTCAGCACGTCAGAGAGC	0.488000													31	103					6.50621e-10	7.63586e-10	1	1	0
TLCD1	116238	broad.mit.edu	37	17	27051724	27051724	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:27051724C>A	ENST00000292090.3	-	4	658	c.548G>T	c.(547-549)cGc>cTc	p.R183L	TLCD1_ENST00000394933.3_Missense_Mutation_p.R136L	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	183	TLC.					integral to membrane		p.R183L(2)		breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					AGGGGCCAGGCGGAAGAGAAA	0.517000													6	43					5.18039e-06	5.7512e-06	1	1	0
CASC3	22794	broad.mit.edu	37	17	38318060	38318060	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:38318060G>A	ENST00000264645.7	+	4	578	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	118					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	p.E118K(2)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCTGAAATCAGAAGCTAATGA	0.438000													69	80					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18688221	18688221	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:18688221C>G	ENST00000406451.3	+	11	1523	c.1373C>G	c.(1372-1374)aCg>aGg	p.T458R	HDAC9_ENST00000456174.2_Missense_Mutation_p.T430R|HDAC9_ENST00000524023.1_Missense_Mutation_p.T381R|HDAC9_ENST00000428307.2_Missense_Mutation_p.T414R|HDAC9_ENST00000417496.2_Missense_Mutation_p.T456R|HDAC9_ENST00000406072.1_Missense_Mutation_p.T445R|HDAC9_ENST00000401921.1_Missense_Mutation_p.T417R|HDAC9_ENST00000441542.2_Missense_Mutation_p.T461R|HDAC9_ENST00000405010.3_Missense_Mutation_p.T458R|HDAC9_ENST00000432645.2_Missense_Mutation_p.T458R	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	458					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.T461R(4)|p.T456R(2)|p.T458R(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTCAGAGCACGTTGGCTCAG	0.507000													66	183					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													3	41					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79296927	79296927	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:79296927G>T	ENST00000264895.6	+	26	3626	c.3186G>T	c.(3184-3186)agG>agT	p.R1062S	FRAS1_ENST00000325942.6_Missense_Mutation_p.R1062S	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1061					cell communication	integral to membrane|plasma membrane	metal ion binding	p.R1062I(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCAGCCACAGGGACCGTTGTC	0.478000													14	34					8.60227e-14	1.08085e-13	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57180982	57180982	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:57180982C>A	ENST00000504228.1	+	6	1419	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P	KIAA1211_ENST00000541073.1_Silent_p.P431P|KIAA1211_ENST00000264229.6_Silent_p.P438P			Q6ZU35	K1211_HUMAN	KIAA1211	438	Glu-rich.							p.P438P(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCCTGAAACCCGAAGGACAAA	0.612000													5	14					0.0215528	0.0219641	1	1	0
FBN3	84467	broad.mit.edu	37	19	8183790	8183790	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:8183790C>G	ENST00000600128.1	-	26	3742	c.3328G>C	c.(3328-3330)Gcc>Ccc	p.A1110P	FBN3_ENST00000270509.2_Missense_Mutation_p.A1110P|FBN3_ENST00000601739.1_Missense_Mutation_p.A1110P			Q75N90	FBN3_HUMAN	fibrillin 3	1110	EGF-like 14; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.A1110P(2)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCTCACAGGCAGTGCCCTTG	0.587000													18	161					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198266709	198266709	+	Splice_Site	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:198266709C>G	ENST00000335508.5	-	15	2314	c.2223_splice	c.e15+1	p.K741_splice		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	741					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.K741N(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTGGATTTACCTTTCCTCTGT	0.343000			Mis		myelodysplastic syndrome								32	54					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203821496	203821496	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:203821496T>C	ENST00000545588.1	+	17	6229	c.2402T>C	c.(2401-2403)cTg>cCg	p.L801P	ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L801P|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L801P	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	801							nucleic acid binding|protein binding|zinc ion binding	p.L801P(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGACCTTCTGCTTGAGCTA	0.388000													3	55					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077218	19077218	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:19077218G>C	ENST00000329773.2	-	2	819	c.732C>G	c.(730-732)ttC>ttG	p.F244L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	244					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.F244L(2)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ATAATATTAGGAACCACTGAA	0.502000													59	295					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27329206	27329206	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:27329206T>A	ENST00000429845.2	-	21	2134	c.1772A>T	c.(1771-1773)tAc>tTc	p.Y591F	NEK10_ENST00000341435.5_Missense_Mutation_p.Y591F|NEK10_ENST00000357467.2_5'UTR			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	591	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Y591F(3)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAATGTTTTGTAATAACGTAC	0.264000													38	178					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141755521	141755521	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:141755521C>A	ENST00000475668.2	+	28	3532	c.3478C>A	c.(3478-3480)Cca>Aca	p.P1160T	MGAM_ENST00000549489.2_Missense_Mutation_p.P1160T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1160	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1160T(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACCAGCCCCCAGGGGTAAG	0.547000													53	28					7.71302e-15	9.94867e-15	1	1	0
PPIG	9360	broad.mit.edu	37	2	170493475	170493475	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:170493475G>T	ENST00000260970.3	+	14	1927	c.1707G>T	c.(1705-1707)agG>agT	p.R569S	PPIG_ENST00000448752.2_Missense_Mutation_p.R569S|PPIG_ENST00000409714.3_Missense_Mutation_p.R554S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	569	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R569T(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GCAGAAGTAGGGACAGAAGCA	0.438000													31	203					1.30998e-17	1.76649e-17	1	1	0
KRT28	162605	broad.mit.edu	37	17	38950232	38950232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:38950232G>A	ENST00000306658.7	-	6	1110	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	349	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.Q349*(2)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				ATCTGAGCCTGGATCTGCGCC	0.582000													116	134					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127686687	127686687	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:127686687C>A	ENST00000508053.1	-	27	3659	c.2685G>T	c.(2683-2685)aaG>aaT	p.K895N	FBN2_ENST00000508989.1_Missense_Mutation_p.K862N|FBN2_ENST00000262464.4_Missense_Mutation_p.K895N			P35556	FBN2_HUMAN	fibrillin 2	895					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.K895N(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AACAGGTCCCCTTCAGGCTGT	0.493000													71	78					9.13743e-30	1.42256e-29	1	1	0
HUS1B	135458	broad.mit.edu	37	6	656317	656317	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:656317G>A	ENST00000380907.2	-	1	646	c.628C>T	c.(628-630)Cct>Tct	p.P210S	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	210								p.P210S(2)		endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GACTGGGGAGGGTTTCCAAGA	0.517000													46	130					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56954088	56954088	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:56954088G>T	ENST00000504904.3	-	7	995	c.276C>A	c.(274-276)acC>acA	p.T92T	ZNF667_ENST00000292069.6_Silent_p.T92T|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Silent_p.T220T			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T92T(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTAACTTCTTGGTCTCACATT	0.373000													53	88					2.93687e-30	4.59909e-30	1	1	0
MYH6	4624	broad.mit.edu	37	14	23863047	23863047	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:23863047G>A	ENST00000405093.3	-	22	2826	c.2756C>T	c.(2755-2757)gCc>gTc	p.A919V	MYH6_ENST00000356287.3_Missense_Mutation_p.A919V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	919					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.A919V(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTTACTTTGGCCTCCAGCTG	0.527000													14	52					0	0	1	0	0
ATPIF1	93974	broad.mit.edu	37	1	28564412	28564412	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:28564412A>C	ENST00000335514.5	+	3	295	c.244A>C	c.(244-246)Aag>Cag	p.K82Q	ATPIF1_ENST00000497986.1_3'UTR|ATPIF1_ENST00000468425.2_Intron|ATPIF1_ENST00000465645.1_3'UTR	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	82					angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity	p.K82Q(2)		lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CGTTCATCATAAGAAGGAGAT	0.408000													39	47					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15607507	15607507	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:15607507C>G	ENST00000427411.1	-	6	872	c.656G>C	c.(655-657)cGc>cCc	p.R219P	ACE2_ENST00000252519.3_Missense_Mutation_p.R219P	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	219					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	p.R219P(2)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CAACTGGCCGCGGCTGTAGTC	0.423000													123	303					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53472546	53472546	+	RNA	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:53472546C>T	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							CTTCATTATGCATTCTCCAAT	0.358000													12	22					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100340162	100340162	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:100340162C>A	ENST00000437033.2	-	7	1445	c.942G>T	c.(940-942)tgG>tgT	p.W314C	ADH7_ENST00000476959.1_Missense_Mutation_p.W334C|ADH7_ENST00000482593.1_Missense_Mutation_p.W257C|ADH7_ENST00000209665.4_Missense_Mutation_p.W326C			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	326					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	p.W326C(2)|p.W334C(2)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CACATCCCTTCCATGTGCGTC	0.537000													66	187					8.70839e-23	1.27405e-22	1	1	0
RYR3	6263	broad.mit.edu	37	15	34018617	34018617	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr15:34018617C>A	ENST00000389232.4	+	46	7013	c.6943C>A	c.(6943-6945)Cgc>Agc	p.R2315S	RYR3_ENST00000415757.3_Missense_Mutation_p.R2315S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2315	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2315S(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAGCCATCCGCATCAGGTC	0.552000													3	20					2.56e-06	2.95051e-06	0.009096	1	0
SLC6A18	348932	broad.mit.edu	37	5	1244882	1244882	+	Splice_Site	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:1244882C>T	ENST00000324642.3	+	11	1779	c.1656_splice	c.e11+1	p.Y552_splice		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	552					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.Y552Y(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACCCCAAATACGTAGGTCCTT	0.612000													7	127					0	0	0.047766	0	0
IRX4	50805	broad.mit.edu	37	5	1878835	1878835	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:1878835G>T	ENST00000505790.1	-	6	1264	c.808C>A	c.(808-810)Ccg>Acg	p.P270T	IRX4_ENST00000513692.1_Missense_Mutation_p.P270T|IRX4_ENST00000231357.2_Missense_Mutation_p.P270T	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	270					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P270T(1)		endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CACGCCGGCGGCTCTGCTTCC	0.697000													17	36					3.41278e-10	4.47362e-10	0.033300	1	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													7	119					0	0	0.069234	0	0
DNAH3	55567	broad.mit.edu	37	16	20976235	20976235	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:20976235G>A	ENST00000261383.3	-	53	8970	c.8971C>T	c.(8971-8973)Cgc>Tgc	p.R2991C	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2991					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2991C(4)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTAGTATAGCGGATCCCCAGC	0.532000													80	62					0	0	0.048971	0	0
ALPK2	115701	broad.mit.edu	37	18	56202436	56202436	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:56202436C>A	ENST00000361673.3	-	5	5196	c.4983G>T	c.(4981-4983)gaG>gaT	p.E1661D		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1661							ATP binding|protein serine/threonine kinase activity	p.E1022D(2)|p.E1661D(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTTCTCTAACTCACGTTCTC	0.498000													15	143					2.31682e-05	2.59332e-05	0.024245	1	0
ELMO1	9844	broad.mit.edu	37	7	37298871	37298871	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:37298871G>T	ENST00000310758.4	-	6	975	c.328C>A	c.(328-330)Ctc>Atc	p.L110I	ELMO1_ENST00000442504.1_Missense_Mutation_p.L110I|ELMO1_ENST00000448602.1_Missense_Mutation_p.L110I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	110					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.S109_L110>RI(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCCCGGGAGAGGCTGGCCAAG	0.547000													66	65					5.00936e-31	9.39686e-31	0.048971	1	0
FRMD4A	55691	broad.mit.edu	37	10	13782541	13782541	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:13782541G>A	ENST00000357447.2	-	10	953	c.585C>T	c.(583-585)aaC>aaT	p.N195N	FRMD4A_ENST00000358621.4_Silent_p.N180N|RP11-353M9.1_ENST00000449462.1_RNA|FRMD4A_ENST00000378503.1_Silent_p.N195N|FRMD4A_ENST00000342409.2_Silent_p.N211N	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	195	FERM.					cytoplasm|cytoskeleton	binding	p.N195N(2)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TTGTCTGACCGTTCAGTTTCT	0.443000													45	101					0	0	0.048971	0	0
FAM127A	8933	broad.mit.edu	37	X	134166623	134166623	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:134166623C>A	ENST00000257013.7	+	1	291	c.210C>A	c.(208-210)acC>acA	p.T70T	FAM127A_ENST00000464369.1_Intron	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	70										endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TCCTCATCACCCGCCTCACAG	0.612000													4	109					0.0215528	0.0224611	0.021553	1	0
LHX9	56956	broad.mit.edu	37	1	197890725	197890725	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:197890725G>T	ENST00000367390.3	+	4	669	c.642G>T	c.(640-642)caG>caT	p.Q214H	LHX9_ENST00000561173.1_Missense_Mutation_p.Q229H|LHX9_ENST00000367387.4_Missense_Mutation_p.Q223H|LHX9_ENST00000337020.2_Missense_Mutation_p.Q223H|LHX9_ENST00000367391.1_Missense_Mutation_p.Q214H	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	223					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.Q223H(2)|p.Q214H(2)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCACCGTGCAGAAAGGGCGGC	0.652000													17	34					1.5739e-10	2.10887e-10	0.028581	1	0
NRAP	4892	broad.mit.edu	37	10	115410292	115410292	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:115410292C>T	ENST00000369358.4	-	8	932	c.688G>A	c.(688-690)Gag>Aag	p.E230K	NRAP_ENST00000369360.3_Missense_Mutation_p.E230K|NRAP_ENST00000359988.3_Missense_Mutation_p.E230K|NRAP_ENST00000360478.3_Missense_Mutation_p.E230K			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	230						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.E230K(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCATAGTCCTCTGTGTATCTC	0.448000													23	63					0	0	0.062417	0	0
ASS1	445	broad.mit.edu	37	9	133364724	133364724	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:133364724C>G	ENST00000372394.1	+	13	1324	c.843C>G	c.(841-843)atC>atG	p.I281M	ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000372393.3_Missense_Mutation_p.I281M|ASS1_ENST00000352480.5_Missense_Mutation_p.I281M			P00966	ASSY_HUMAN	argininosuccinate synthase 1	281					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	p.I281M(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GGCTAGGTATCTACGAGACCC	0.448000													43	87					0	0	0.048971	0	0
ASMTL	8623	broad.mit.edu	37	X	1561078	1561078	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:1561078C>A	ENST00000534940.1	-	2	277		c.e2+1		ASMTL_ENST00000381317.3_Splice_Site|ASMTL_ENST00000381333.4_Splice_Site|ASMTL_ENST00000416733.2_Splice_Site	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like						melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	p.?(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGCCCCTTGCCTGGTACAGC	0.527000													47	158					2.01807e-28	3.6232e-28	0.048971	1	0
FLNC	2318	broad.mit.edu	37	7	128486498	128486498	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:128486498C>A	ENST00000325888.8	+	23	4369	c.4108C>A	c.(4108-4110)Cga>Aga	p.R1370R	FLNC_ENST00000346177.6_Silent_p.R1370R	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1370					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.R1370R(2)		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						CAAGGCCAACCGATTCACTGT	0.642000													53	63					9.40535e-28	1.6612e-27	0.048971	1	0
CYFIP2	26999	broad.mit.edu	37	5	156731349	156731349	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:156731349C>G	ENST00000347377.6	+	8	1201	c.770C>G	c.(769-771)cCc>cGc	p.P257R	CYFIP2_ENST00000521420.1_Missense_Mutation_p.P231R|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000541131.1_Missense_Mutation_p.P182R|CYFIP2_ENST00000377576.3_Missense_Mutation_p.P257R|CYFIP2_ENST00000318218.6_Missense_Mutation_p.P257R|CYFIP2_ENST00000442283.2_5'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	257					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	p.P257R(6)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TACCTGACTCCCAGTGAGAAA	0.488000													16	153					0	0	0.033300	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938031	116938031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:116938031C>A	ENST00000229554.5	+	1	382	c.245C>A	c.(244-246)cCt>cAt	p.P82H	RSPH4A_ENST00000368580.4_Missense_Mutation_p.P82H|RSPH4A_ENST00000368581.4_Missense_Mutation_p.P82H	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	82					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.P82H(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACATCATCACCTGCTCCTGTC	0.652000									Kartagener syndrome				16	42					3.52763e-06	4.04859e-06	0.033300	1	0
GMFG	9535	broad.mit.edu	37	19	39819649	39819649	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:39819649C>A	ENST00000598034.1	-	6	377	c.348G>T	c.(346-348)gaG>gaT	p.E116D	GMFG_ENST00000594700.1_Intron|GMFG_ENST00000597595.1_Missense_Mutation_p.E116D|GMFG_ENST00000595636.1_3'UTR|GMFG_ENST00000253054.8_Missense_Mutation_p.E83D|GMFG_ENST00000600322.1_Missense_Mutation_p.E83D|GMFG_ENST00000602185.1_Missense_Mutation_p.E67D|GMFG_ENST00000601387.1_Missense_Mutation_p.E75D			O60234	GMFG_HUMAN	glia maturation factor, gamma	116	ADF-H.				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity	p.E116D(2)		breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCTTTGTGAGCTCTGCTGTCT	0.552000													18	73					9.7654e-05	0.000106889	0.043863	1	0
RASAL2	9462	broad.mit.edu	37	1	178252788	178252788	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:178252788A>T	ENST00000448150.3	+	2	1056	c.238A>T	c.(238-240)Aca>Tca	p.T80S	RASAL2_ENST00000367649.3_Missense_Mutation_p.T98S|RASAL2_ENST00000465723.1_3'UTR	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.T80L(2)|p.T98L(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTGCATCCTCACAGACAGCCA	0.463000													22	200					0	0	0.099896	0	0
SMG1	23049	broad.mit.edu	37	16	18844354	18844354	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:18844354C>A	ENST00000446231.2	-	51	9112	c.8700G>T	c.(8698-8700)ctG>ctT	p.L2900L	SMG1_ENST00000389467.3_Silent_p.L2900L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2900					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.L2896L(2)|p.L2900L(2)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTAGAGTCTGCAGGGGAACGC	0.468000													166	154					1.03592e-72	2.19277e-72	0.048971	1	0
IGKV4-1	28908	broad.mit.edu	37	2	89185128	89185128	+	RNA	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:89185128G>C	ENST00000390243.2	+	0	216																											CTGTTGCTCTGGATCTCTGGT	0.398000													31	194					0	0	0.059317	0	0
TAF1L	138474	broad.mit.edu	37	9	32632739	32632739	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:32632739G>A	ENST00000242310.4	-	1	2928	c.2839C>T	c.(2839-2841)Cac>Tac	p.H947Y		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	947					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.H947Y(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAGCAGCGTGAACTTCATCA	0.493000													33	168					0	0	0.050027	0	0
STXBP5L	9515	broad.mit.edu	37	3	120952514	120952514	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:120952514T>C	ENST00000273666.6	+	12	1434	c.1163T>C	c.(1162-1164)gTa>gCa	p.V388A	STXBP5L_ENST00000492541.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000497029.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000471454.1_Missense_Mutation_p.V388A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	388					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.V388A(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GATCTCATTGTAGTTGATCTG	0.284000													11	42					0	0	0.024245	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460697	1460697	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr20:1460697C>A	ENST00000359801.3	-	2	135	c.99G>T	c.(97-99)caG>caT	p.Q33H	SIRPB2_ENST00000537284.1_5'UTR|SIRPB2_ENST00000444444.1_Missense_Mutation_p.Q33H|SIRPB2_ENST00000381630.1_Missense_Mutation_p.Q33H	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	33	Ig-like V-type 1.					integral to membrane		p.Q33H(2)|p.Q132H(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCTGCTGCTCTGCCCAGAGG	0.527000													27	44					2.80507e-11	3.8149e-11	0.050027	1	0
PHF14	9678	broad.mit.edu	37	7	11068363	11068363	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:11068363G>T	ENST00000403050.3	+	7	1825	c.1373G>T	c.(1372-1374)tGt>tTt	p.C458F	PHF14_ENST00000445996.2_Missense_Mutation_p.C173F	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	458							zinc ion binding	p.C458F(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGCATTAGCTGTGATGCAGGG	0.448000													71	153					1.1794e-34	2.25914e-34	0.048971	1	0
OR10K2	391107	broad.mit.edu	37	1	158390454	158390454	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:158390454C>A	ENST00000314902.2	-	1	202	c.203G>T	c.(202-204)tGc>tTc	p.C68F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C68F(2)		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)					AATCTCAGAGCAAGAGAGGAT	0.488000													23	205					3.08376e-08	3.78683e-08	0.083992	1	0
PADI1	29943	broad.mit.edu	37	1	17548865	17548865	+	Missense_Mutation	SNP	G	G	A	rs141255010	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:17548865G>A	ENST00000375471.4	+	2	265	c.173G>A	c.(172-174)cGt>cAt	p.R58H		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	58					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AACCGCACACGTGTGAAAGAG	0.552000													6	216					0	0	0.021553	0	0
OR10R2	343406	broad.mit.edu	37	1	158450337	158450337	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:158450337G>T	ENST00000368152.1	+	1	670	c.670G>T	c.(670-672)Gtt>Ttt	p.V224F	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V224F(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CATTTGTGGAGTTCTTGTACT	0.423000													85	141					3.3814e-41	6.68903e-41	0.048971	1	0
MCTP1	79772	broad.mit.edu	37	5	94224666	94224666	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:94224666C>A	ENST00000515393.1	-	12	1850	c.1851G>T	c.(1849-1851)agG>agT	p.R617S	MCTP1_ENST00000505078.1_Missense_Mutation_p.R133S|MCTP1_ENST00000429576.2_Missense_Mutation_p.R350S|MCTP1_ENST00000312216.8_Missense_Mutation_p.R396S|MCTP1_ENST00000505208.1_Missense_Mutation_p.R396S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	617	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.R617S(2)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGTGAAATATCCTCAATGGGC	0.423000													39	53					2.40579e-17	3.67627e-17	0.086207	1	0
SEC16A	9919	broad.mit.edu	37	9	139371251	139371251	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:139371251C>A	ENST00000313050.7	-	1	890	c.817G>T	c.(817-819)Gca>Tca	p.A273S	SEC16A_ENST00000290037.6_Missense_Mutation_p.A95S|SEC16A_ENST00000431893.2_Missense_Mutation_p.A95S|SEC16A_ENST00000371706.3_Missense_Mutation_p.A95S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	95					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.A273S(4)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCAAGGCTGCTGGGGGAGCC	0.587000													9	26					2.17888e-05	2.44899e-05	0.058154	1	0
IRGC	56269	broad.mit.edu	37	19	44223909	44223909	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:44223909G>T	ENST00000244314.5	+	2	1398	c.1199G>T	c.(1198-1200)cGc>cTc	p.R400L		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	400						membrane	GTP binding|hydrolase activity, acting on acid anhydrides	p.R400L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CAGCGTGTCCGCATCAAGGCC	0.652000													6	23					0.00198382	0.00208742	0.029380	1	0
ZNF414	84330	broad.mit.edu	37	19	8578116	8578116	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:8578116G>A	ENST00000393927.4	-	2	226	c.113C>T	c.(112-114)tCc>tTc	p.S38F	ZNF414_ENST00000255616.8_Missense_Mutation_p.S38F	NM_001146175.1	NP_001139647.1	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						CATGGAGGAGGAAGGGGCTGC	0.682000													3	19					0	0	0.004672	0	0
LAMA2	3908	broad.mit.edu	37	6	129635943	129635943	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:129635943G>T	ENST00000421865.2	+	24	3604	c.3555_splice	c.e24+1	p.W1185_splice		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1185	Laminin IV type A 2.				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	p.W1185F(2)		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)		TCCGGACGTGGGTGAGTAGGG	0.483000													25	82					9.39395e-14	1.37006e-13	0.030593	1	0
MIR517B	574483	broad.mit.edu	37	19	54224383	54224383	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:54224383C>A	ENST00000385102.1	+	0	54					NR_030205.1																						TCGTGCATCCCTTTAGAGTGT	0.423000													21	132					1.96292e-10	2.59813e-10	0.055883	1	0
NBAS	51594	broad.mit.edu	37	2	15492159	15492159	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:15492159T>A	ENST00000281513.5	-	35	4161	c.4136A>T	c.(4135-4137)gAa>gTa	p.E1379V	NBAS_ENST00000441750.1_Missense_Mutation_p.E1259V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1379								p.E1379V(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTGATATTTTCCCCTCCTTC	0.368000													7	62					0	0	0.029380	0	0
BRE	9577	broad.mit.edu	37	2	28521252	28521252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:28521252C>T	ENST00000344773.2	+	11	1120	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	BRE_ENST00000361704.2_Nonsense_Mutation_p.Q328*|BRE_ENST00000379632.2_Nonsense_Mutation_p.Q328*|BRE_ENST00000342045.2_Nonsense_Mutation_p.Q328*|BRE_ENST00000379624.1_Nonsense_Mutation_p.Q328*	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	328	UEV-like 2.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.Q328*(9)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TCTCACATTTCAGTCCGTTTA	0.428000													92	227					0	0	0.048971	0	0
IFNA7	3444	broad.mit.edu	37	9	21202067	21202067	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:21202067C>A	ENST00000239347.3	-	1	137	c.98G>T	c.(97-99)cGt>cTt	p.R33L		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	33					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.R33L(2)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCTCCTATTACGCAGGCTGTG	0.507000													24	150					3.83957e-06	4.39732e-06	0.076483	1	0
LRRC66	339977	broad.mit.edu	37	4	52861722	52861722	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:52861722C>T	ENST00000343457.3	-	4	1472	c.1466G>A	c.(1465-1467)gGa>gAa	p.G489E		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	489						integral to membrane		p.G489E(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCCGCACTGTCCTGGGCTCTG	0.547000													52	115					0	0	0.048971	0	0
SERPINA3	12	broad.mit.edu	37	14	95088804	95088804	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:95088804G>T	ENST00000553947.1	+	7	2007	c.1119G>T	c.(1117-1119)ggG>ggT	p.G373G	SERPINA3_ENST00000467132.1_Silent_p.G348G|SERPINA3_ENST00000393078.3_Silent_p.G348G|SERPINA3_ENST00000556388.1_3'UTR|SERPINA3_ENST00000393080.4_Silent_p.G348G|SERPINA3_ENST00000482740.1_Silent_p.G130G			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	348	RCL.				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.G348G(2)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GGATCACAGGGGCCAGGAACC	0.502000													23	48					1.28384e-07	1.54515e-07	0.062417	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3677979	3677979	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr20:3677979C>A	ENST00000344754.4	-	9	2132	c.2133G>T	c.(2131-2133)ctG>ctT	p.L711L	SIGLEC1_ENST00000202578.4_Silent_p.L711L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	711	Ig-like C2-type 7.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.L711L(1)		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						GTGCAATGGCCAGGACAGTGG	0.637000													13	40					0.000219431	0.000235445	0.020292	1	0
FUBP1	8880	broad.mit.edu	37	1	78422351	78422351	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:78422351C>A	ENST00000370767.1	-	17	1698	c.1611G>T	c.(1609-1611)tgG>tgT	p.W537C	FUBP1_ENST00000436586.2_Missense_Mutation_p.W558C|FUBP1_ENST00000370768.2_Missense_Mutation_p.W537C			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	537	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.W537C(2)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATAAGCAGCCCAAGCTGCTG	0.453000			"""F, N"""		oligodendroglioma								19	110					6.94344e-10	8.92963e-10	0.038395	1	0
ZNF99	7652	broad.mit.edu	37	19	22941575	22941575	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:22941575C>G	ENST00000397104.3	-	5	862	c.863G>C	c.(862-864)aGc>aCc	p.S288T	ZNF99_ENST00000596209.1_Missense_Mutation_p.S379T					zinc finger protein 99									p.S288T(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGACAAATTGCTAAAAGCTTT	0.373000													14	105					0	0	0.105934	0	0
PBX4	80714	broad.mit.edu	37	19	19681554	19681554	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:19681554G>A	ENST00000251203.8	-	3	568	c.282C>T	c.(280-282)tgC>tgT	p.C94C		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	94							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.C94C(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						TCTCGGGCCTGCACACGCCCT	0.572000													13	68					0	0	0.020292	0	0
KIF17	57576	broad.mit.edu	37	1	21014281	21014281	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:21014281G>A	ENST00000247986.2	-	8	1848	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Missense_Mutation_p.S513F|KIF17_ENST00000375044.1_Missense_Mutation_p.S413F			Q9P2E2	KIF17_HUMAN	kinesin family member 17	513					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.S513F(2)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTGAGTCTTGGAGACATCGTC	0.542000													25	190					0	0	0.091800	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482152	37482152	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:37482152C>A	ENST00000374660.1	+	33	2868	c.2769C>A	c.(2767-2769)gcC>gcA	p.A923A	ANKRD30A_ENST00000361713.1_Silent_p.A804A|ANKRD30A_ENST00000602533.1_Silent_p.A804A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	974						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A804A(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAACTAAAGCCTTAGAATTGA	0.279000													16	77					1.02788e-11	1.41921e-11	0.033300	1	0
DHX37	57647	broad.mit.edu	37	12	125437014	125437014	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:125437014A>C	ENST00000308736.2	-	21	2896	c.2798T>G	c.(2797-2799)cTg>cGg	p.L933R	DHX37_ENST00000544745.1_Missense_Mutation_p.L720R	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	933							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GTGGTCCCCCAGGCCTGCCGT	0.672000													6	69					0	0	0.038147	0	0
ATPIF1	93974	broad.mit.edu	37	1	28564414	28564414	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:28564414G>T	ENST00000335514.5	+	3	297	c.246G>T	c.(244-246)aaG>aaT	p.K82N	ATPIF1_ENST00000468425.2_Intron|ATPIF1_ENST00000465645.1_3'UTR|ATPIF1_ENST00000497986.1_3'UTR	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	82					angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity	p.K82N(2)		lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TTCATCATAAGAAGGAGATTG	0.418000													26	49					1.64293e-13	2.37701e-13	0.083992	1	0
IQGAP1	8826	broad.mit.edu	37	15	90996394	90996394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr15:90996394G>T	ENST00000268182.5	+	13	1481	c.1357G>T	c.(1357-1359)Gca>Tca	p.A453S	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	453					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	p.A453S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCTCTCTGTCGCAGTGGAGAT	0.478000													12	152					0.000219431	0.000235445	0.020292	1	0
GRM4	2914	broad.mit.edu	37	6	34008522	34008522	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:34008522C>T	ENST00000374181.3	-	6	1341	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	GRM4_ENST00000544773.1_Missense_Mutation_p.R222H|GRM4_ENST00000538487.1_Missense_Mutation_p.R391H|GRM4_ENST00000455714.2_Missense_Mutation_p.R251H|GRM4_ENST00000535756.1_Missense_Mutation_p.R258H|GRM4_ENST00000545715.1_Missense_Mutation_p.R83H|GRM4_ENST00000374177.3_Missense_Mutation_p.R275H	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	391					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AATTCGCTCACGGTCTGCAAT	0.597000													4	103					0	0	0.009096	0	0
OR6K2	81448	broad.mit.edu	37	1	158669653	158669653	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:158669653A>G	ENST00000359610.2	-	1	833	c.790T>C	c.(790-792)Tct>Cct	p.S264P		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S264P(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TAGGTGGCAGAGAAGCGTAGG	0.478000													33	43					0	0	0.045705	0	0
SETBP1	26040	broad.mit.edu	37	18	42531706	42531706	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:42531706G>T	ENST00000282030.5	+	4	2697	c.2401G>T	c.(2401-2403)Gag>Tag	p.E801*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	801						nucleus	DNA binding	p.E801*(2)|p.E747*(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAATTTTTCAGAGTTGAAAAC	0.498000									Schinzel-Giedion syndrome				52	57					2.01872e-29	3.67285e-29	0.048971	1	0
JPH4	84502	broad.mit.edu	37	14	24040419	24040419	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:24040419C>T	ENST00000397118.3	-	6	2423	c.1521G>A	c.(1519-1521)gaG>gaA	p.E507E	JPH4_ENST00000356300.4_Silent_p.E507E|JPH4_ENST00000544177.1_Silent_p.E172E	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	507					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CAGCTAGTTCCTCTGCCTGTG	0.667000													7	506					0	0	0.038147	0	0
OR4A5	81318	broad.mit.edu	37	11	51412283	51412283	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:51412283A>T	ENST00000319760.6	-	1	165	c.113T>A	c.(112-114)gTg>gAg	p.V38E		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V38E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAGGTTCCCCACCACTGTCAC	0.428000													39	54					0	0	0.074837	0	0
MUC5AC	4586	broad.mit.edu	37	11	1161857	1161857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:1161857C>T	ENST00000356191.2	+	18	1528	c.1528C>T	c.(1528-1530)Cag>Tag	p.Q510*						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GTTCCTGAACCAGATCTACAC	0.672000													5	49					0	0	0.029380	0	0
GOT1L1	137362	broad.mit.edu	37	8	37794885	37794885	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:37794885G>T	ENST00000307599.4	-	4	528	c.429C>A	c.(427-429)ttC>ttA	p.F143L		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	143					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	p.F143L(4)		central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CCATGTCCTGGAAGACGAGTC	0.542000													11	15					1.58986e-06	1.84411e-06	0.069234	1	0
COL7A1	1294	broad.mit.edu	37	3	48618353	48618353	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:48618353G>T	ENST00000328333.8	-	53	5049	c.4942C>A	c.(4942-4944)Ccg>Acg	p.P1648T	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1648T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1648	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.P1648T(2)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCAAACCCGGGTCACCCTGG	0.557000													16	40					5.3912e-06	6.14846e-06	0.038395	1	0
TECTA	7007	broad.mit.edu	37	11	120983847	120983847	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:120983847G>C	ENST00000392793.1	+	5	824	c.553G>C	c.(553-555)Gaa>Caa	p.E185Q	TECTA_ENST00000264037.2_Missense_Mutation_p.E185Q			O75443	TECTA_HUMAN	tectorin alpha	185	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.E185Q(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAATTATTACGAAATCAACTG	0.572000											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	65					0	0	0.048971	0	0
TPO	7173	broad.mit.edu	37	2	1491645	1491645	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:1491645G>T	ENST00000345913.4	+	10	1741	c.1650G>T	c.(1648-1650)caG>caT	p.Q550H	TPO_ENST00000346956.3_Missense_Mutation_p.Q550H|TPO_ENST00000337415.3_Missense_Mutation_p.Q550H|TPO_ENST00000382201.3_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.Q377H|TPO_ENST00000349624.3_Missense_Mutation_p.Q377H|TPO_ENST00000329066.4_Missense_Mutation_p.Q550H|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	550					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.Q550H(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCAAACTGCAGGTGCAGGATC	0.537000													10	94					5.16669e-11	7.00917e-11	0.080935	1	0
TKTL2	84076	broad.mit.edu	37	4	164394546	164394546	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:164394546G>T	ENST00000280605.3	-	1	501	c.341C>A	c.(340-342)cCc>cAc	p.P114H		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	114						cytoplasm	metal ion binding|transketolase activity	p.P114H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CGGCAATCGGGGGGTAGGGTG	0.532000													33	81					2.49534e-26	4.32315e-26	0.045705	1	0
PPIG	9360	broad.mit.edu	37	2	170493474	170493474	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:170493474G>C	ENST00000260970.3	+	14	1926	c.1706G>C	c.(1705-1707)aGg>aCg	p.R569T	PPIG_ENST00000448752.2_Missense_Mutation_p.R569T|PPIG_ENST00000409714.3_Missense_Mutation_p.R554T	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	569	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R569T(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AGCAGAAGTAGGGACAGAAGC	0.433000													8	55					0	0	0.047766	0	0
A4GALT	53947	broad.mit.edu	37	22	43089605	43089605	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:43089605G>A	ENST00000401850.1	-	2	842	c.353C>T	c.(352-354)cCg>cTg	p.P118L	A4GALT_ENST00000249005.2_Missense_Mutation_p.P118L|A4GALT_ENST00000381278.3_Missense_Mutation_p.P118L			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	118					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GTTGCCACCCGGAAGCCCTTT	0.632000													5	223					0	0	0.038147	0	0
SLC28A3	64078	broad.mit.edu	37	9	86905119	86905119	+	Missense_Mutation	SNP	C	C	A	rs11568388		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:86905119C>A	ENST00000376238.4	-	11	1148	c.1099G>T	c.(1099-1101)Ggg>Tgg	p.G367W	SLC28A3_ENST00000537648.1_Missense_Mutation_p.G298W	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	367			G -> R (reduced transport of inosine and thymidine).		nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	p.G367W(2)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GTAGAGAACCCGGCGGTCATG	0.458000													15	70					2.31682e-05	2.59332e-05	0.024245	1	0
WIPI1	55062	broad.mit.edu	37	17	66417950	66417950	+	Silent	SNP	G	G	A	rs146678987		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:66417950G>A	ENST00000262139.5	-	13	1304	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C	RP11-120M18.2_ENST00000592030.1_RNA|ARSG_ENST00000448504.2_3'UTR|WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.C353C	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	435					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GATTTCCACGGCACAAGATTA	0.468000													5	185					0	0	0.014758	0	0
SPON1	10418	broad.mit.edu	37	11	14284462	14284462	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:14284462C>A	ENST00000310358.7	+	0	2736				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	p.A733D(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TGGAGGGAGGCCCGAGAGAGC	0.582000													21	34					1.2644e-06	1.47604e-06	0.055883	1	0
FAT4	79633	broad.mit.edu	37	4	126242381	126242381	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:126242381C>A	ENST00000394329.3	+	1	4828	c.4815C>A	c.(4813-4815)gaC>gaA	p.D1605E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1605	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D1605E(4)		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						CAGCAACAGACCTTGGGCCTG	0.433000													59	170					3.76997e-23	6.36914e-23	0.048971	1	0
CARD16	114769	broad.mit.edu	37	11	104912157	104912157	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:104912157C>A	ENST00000375706.2	-	3	581	c.564G>T	c.(562-564)gaG>gaT	p.E188D	CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16									p.E188D(2)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						CAGTTTGCAACTCTTTACCTA	0.383000													33	86					1.36239e-07	1.63607e-07	0.059317	1	0
XKR6	286046	broad.mit.edu	37	8	10755798	10755798	+	Silent	SNP	C	C	A	rs61745501	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:10755798C>A	ENST00000416569.2	-	3	1616	c.1590G>T	c.(1588-1590)gcG>gcT	p.A530A	XKR6_ENST00000304437.2_Silent_p.A251A	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	530						integral to membrane		p.A530A(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGATCTCAGGCGCCATGGGCT	0.612000													23	46					7.88262e-20	1.25752e-19	0.083992	1	0
AP1G1	164	broad.mit.edu	37	16	71768563	71768563	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:71768563T>C	ENST00000299980.4	-	22	2757	c.2316A>G	c.(2314-2316)gcA>gcG	p.A772A	AP1G1_ENST00000564155.1_Silent_p.A197A|AP1G1_ENST00000423132.2_Silent_p.A775A|AP1G1_ENST00000433195.2_Silent_p.A795A|AP1G1_ENST00000569748.1_Silent_p.A772A|AP1G1_ENST00000393512.3_Silent_p.A775A	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	772	GAE.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CCGTGTTAAATGCTGGGACAA	0.463000													8	423					0	0	0.047766	0	0
CFAP54	144535	broad.mit.edu	37	12	97052115	97052115	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:97052115T>C	ENST00000524981.3	+	5	804	c.804T>C	c.(802-804)taT>taC	p.Y268Y				Q6ZTY8	CL063_HUMAN		242								p.Y242Y(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGGCTGAATATGGAGAGAAGG	0.378000													13	125					0	0	0.020292	0	0
SLC45A2	51151	broad.mit.edu	37	5	33954552	33954552	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:33954552G>A	ENST00000382102.3	-	4	1003	c.946C>T	c.(946-948)Cac>Tac	p.H316Y	SLC45A2_ENST00000342059.3_Missense_Mutation_p.H257Y|SLC45A2_ENST00000345083.5_Missense_Mutation_p.H208Y|SLC45A2_ENST00000509381.1_Missense_Mutation_p.S207L|SLC45A2_ENST00000296589.4_Missense_Mutation_p.H316Y	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	316					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.H316Y(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TAGCGGTAGTGAGGAGGCATG	0.478000													33	61					0	0	0.054565	0	0
GPR12	2835	broad.mit.edu	37	13	27333071	27333071	+	Silent	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:27333071A>G	ENST00000405846.3	-	2	1115	c.894T>C	c.(892-894)ccT>ccC	p.P298P	GPR12_ENST00000381436.2_Silent_p.P298P	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	298						integral to plasma membrane		p.P298P(2)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CATATATGACAGGGTTGATGA	0.542000													25	85					0	0	0.083992	0	0
RPL17-C18orf32	100526842	broad.mit.edu	37	18	47015750	47015750	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:47015750C>A	ENST00000584895.1	-	5	500	c.486G>T	c.(484-486)gaG>gaT	p.E162D	MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000579408.1_Missense_Mutation_p.E162D|RPL17_ENST00000581373.1_Missense_Mutation_p.E124D|RPL17_ENST00000580261.1_Missense_Mutation_p.E162D|RPL17_ENST00000581091.1_5'UTR|RPL17_ENST00000418495.1_Missense_Mutation_p.E162D|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.E124D|RPL17_ENST00000580210.1_Missense_Mutation_p.E152D|RPL17_ENST00000579248.1_Missense_Mutation_p.E162D	NM_001199355.1|NM_001199356.1	NP_001186284.1|NP_001186285.1												p.E162D(8)									GGGCAACCTCCTCTTCTGGTT	0.428000													30	77					2.08457e-15	3.14129e-15	0.045705	1	0
TSLP	85480	broad.mit.edu	37	5	110407688	110407688	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:110407688T>A	ENST00000420978.2	+	2	1522	c.100T>A	c.(100-102)Tgt>Agt	p.C34S	TSLP_ENST00000344895.3_Missense_Mutation_p.C34S			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	34						extracellular space	cytokine activity	p.C34S(2)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTTCACTAACTGTGACTTTGA	0.348000													49	66					0	0	0.048971	0	0
LTF	4057	broad.mit.edu	37	3	46496817	46496817	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:46496817C>A	ENST00000231751.4	-	5	910	c.615G>T	c.(613-615)caG>caT	p.Q205H	LTF_ENST00000426532.2_Missense_Mutation_p.Q161H|LTF_ENST00000417439.1_Missense_Mutation_p.Q205H	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	205	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.Q205_E206>H*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AGTACGGTTCCTGGGAGGAGA	0.582000													16	88					6.31663e-08	7.67019e-08	0.024245	1	0
HAUS7	55559	broad.mit.edu	37	X	152721086	152721086	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:152721086C>G	ENST00000370219.3	-	8	1431	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.E292Q|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000421080.2_Silent_p.A113A|HAUS7_ENST00000370211.4_Missense_Mutation_p.E282Q|TREX2_ENST00000334497.2_5'UTR|TREX2_ENST00000338525.2_5'UTR	NM_017518.6	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	292					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	p.E292Q(2)|p.E292*(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						TGGCAGCACTCGCCCAGCTCG	0.602000													48	43					0	0	0.048971	0	0
ARHGAP6	395	broad.mit.edu	37	X	11196361	11196361	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:11196361C>T	ENST00000337414.4	-	8	2360	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E	ARHGAP6_ENST00000413512.3_Silent_p.E305E|ARHGAP6_ENST00000534860.1_Silent_p.E321E|ARHGAP6_ENST00000380736.1_Silent_p.E293E|ARHGAP6_ENST00000303025.6_Silent_p.E293E|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380718.1_Silent_p.E496E|ARHGAP6_ENST00000380732.3_Silent_p.E528E	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	496	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.E496E(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTTCCTCCGGCTCCAACACTA	0.522000													5	8					0	0	0.021553	0	0
LRP1B	53353	broad.mit.edu	37	2	141267498	141267498	+	Splice_Site	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:141267498G>A	ENST00000389484.3	-	52	9368	c.8398_splice	c.e52+1	p.C2799_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2799	LDL-receptor class A 17.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C2799C(2)		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)		TGTTCATACCGCAGCCTGCTG	0.507000										TSP Lung(27;0.18)			27	121					0	0	0.030593	0	0
TTN	7273	broad.mit.edu	37	2	179396279	179396279	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:179396279G>A	ENST00000589042.1	-	358	105287	c.105063C>T	c.(105061-105063)ggC>ggT	p.G35021G	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.G32453G|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.G33380G|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.G26081G|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Silent_p.G25956G|TTN_ENST00000342175.6_Silent_p.G26148G|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33380							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G26081G(1)|p.G26148G(1)|p.G32451G(1)|p.G25956G(1)|p.G32453G(1)		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)			CAGAAGCTTCGCCCTTGTAGT	0.507000													7	93					0	0	0.029380	0	0
ARF5	381	broad.mit.edu	37	7	127231266	127231266	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:127231266G>T	ENST00000000233.5	+	6	610		c.e6-1		GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5						protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	p.?(2)		cervix(2)|kidney(1)|lung(10)|ovary(1)	14						TTTCCCCACAGTGGTATGTCC	0.552000													38	48					8.73648e-17	1.32755e-16	0.069456	1	0
TMEM81	388730	broad.mit.edu	37	1	205053311	205053311	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:205053311G>A	ENST00000367167.3	-	1	334	c.138C>T	c.(136-138)gcC>gcT	p.A46A		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	46						integral to membrane		p.A46A(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TACAGGTTGTGGCATTGATGA	0.532000													20	104					0	0	0.049695	0	0
GABRG2	2566	broad.mit.edu	37	5	161576140	161576140	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:161576140A>G	ENST00000356592.3	+	8	1409	c.949A>G	c.(949-951)Acc>Gcc	p.T317A	GABRG2_ENST00000414552.2_Missense_Mutation_p.T357A|GABRG2_ENST00000393933.4_Missense_Mutation_p.T222A|GABRG2_ENST00000361925.4_Missense_Mutation_p.T317A	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	317					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.T317A(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GACAATGACCACCCTCAGCAC	0.463000													14	211					0	0	0.020292	0	0
ZNF607	84775	broad.mit.edu	37	19	38198822	38198822	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:38198822C>A	ENST00000355202.4	-	4	823	c.228G>T	c.(226-228)gaG>gaT	p.E76D	ZNF607_ENST00000395835.3_Missense_Mutation_p.E75D|CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.E76D	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E76D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TACCTGTACACTCTCCTCTTG	0.443000													26	60					4.59853e-10	5.95619e-10	0.108266	1	0
GAS2L2	246176	broad.mit.edu	37	17	34073054	34073054	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:34073054G>C	ENST00000254466.6	-	6	1489	c.1462C>G	c.(1462-1464)Cca>Gca	p.P488A	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P472A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	488					cell cycle arrest	cytoplasm|cytoskeleton		p.P488A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAGACTCTGGCTCCCTGAAC	0.642000													102	98					0	0	0.048971	0	0
RNF175	285533	broad.mit.edu	37	4	154631639	154631639	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:154631639C>G	ENST00000347063.4	-	9	1241	c.869G>C	c.(868-870)tGg>tCg	p.W290S		NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN	ring finger protein 175	290						integral to membrane	zinc ion binding	p.W290S(1)|p.W291S(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				TGTGCGCTCCCAGCTAAATCT	0.378000													3	16					0	0	0.004672	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744233	140744233	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:140744233C>G	ENST00000518069.1	+	1	336	c.336C>G	c.(334-336)aaC>aaG	p.N112K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.N112K(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTTGAGAACAAAATGAAAA	0.443000													26	39					0	0	0.083992	0	0
USP21	27005	broad.mit.edu	37	1	161130698	161130698	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:161130698C>T	ENST00000368002.3	+	3	645	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	USP21_ENST00000368001.1_Silent_p.L90L|USP21_ENST00000289865.8_Silent_p.L90L	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	90					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L90L(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGGGGTTCCCCTGCCTGGCTC	0.622000													13	89					0	0	0.093190	0	0
AZI2	64343	broad.mit.edu	37	3	28381959	28381959	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:28381959T>C	ENST00000479665.1	-	2	681	c.150A>G	c.(148-150)aaA>aaG	p.K50K	AZI2_ENST00000334100.6_Silent_p.K50K|AZI2_ENST00000457172.1_Silent_p.K50K|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000420543.2_Silent_p.K50K	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	50						mitochondrion|plasma membrane		p.K50K(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTTAAGTCGTTTTTTGATGT	0.343000													29	59					0	0	0.108266	0	0
IFRD2	7866	broad.mit.edu	37	3	50326124	50326124	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:50326124C>A	ENST00000436390.1	-	13	1539	c.1042G>T	c.(1042-1044)Gag>Tag	p.E348*	IFRD2_ENST00000417626.2_Nonsense_Mutation_p.E348*|IFRD2_ENST00000336089.4_Nonsense_Mutation_p.E514*|IFRD2_ENST00000429673.2_Nonsense_Mutation_p.E412*			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	412							binding	p.E514*(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CGCACTATCTCTTCTTCGCAT	0.582000													22	28					1.22574e-08	1.51891e-08	0.069288	1	0
PIANP	196500	broad.mit.edu	37	12	6804697	6804697	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:6804697G>A	ENST00000534837.1	-	5	955	c.726C>T	c.(724-726)ttC>ttT	p.F242F	PIANP_ENST00000320591.5_Silent_p.F242F|PIANP_ENST00000540656.1_Silent_p.F242F	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein									p.F242F(2)									GTGAGTCCCCGAAGGCCCCCA	0.692000													15	84					0	0	0.028581	0	0
MYOC	4653	broad.mit.edu	37	1	171605172	171605172	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:171605172G>A	ENST00000037502.5	-	3	1467	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	470	Olfactomedin-like.		R -> C (in GLC1A).|R -> H.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.R470C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TACTTATAGCGGTTCTTGAAT	0.488000													26	167					0	0	0.108266	0	0
TPO	7173	broad.mit.edu	37	2	1459915	1459915	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:1459915C>A	ENST00000345913.4	+	7	771	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	TPO_ENST00000346956.3_Missense_Mutation_p.S227Y|TPO_ENST00000337415.3_Missense_Mutation_p.S227Y|TPO_ENST00000382201.3_Missense_Mutation_p.S227Y|TPO_ENST00000382198.1_Missense_Mutation_p.S227Y|TPO_ENST00000349624.3_Missense_Mutation_p.S227Y|TPO_ENST00000329066.4_Missense_Mutation_p.S227Y|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	227					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.S227Y(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACCGCTATTCTGACCTCCTG	0.537000													10	71					3.07112e-06	3.53211e-06	0.080935	1	0
SH3BP1	23616	broad.mit.edu	37	22	38040934	38040934	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:38040934C>A	ENST00000599616.1	+	7	553	c.553C>A	c.(553-555)Ctg>Atg	p.L185M	SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000357436.4_Missense_Mutation_p.L249M|SH3BP1_ENST00000442465.2_Missense_Mutation_p.L249M|SH3BP1_ENST00000336738.5_Missense_Mutation_p.L249M|Z83844.1_ENST00000456099.1_RNA			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	249	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GGACACAGCCCTGGCTGAGCT	0.627000													6	52					0.000274275	0.00029256	0.047766	1	0
EPHA8	2046	broad.mit.edu	37	1	22903323	22903323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:22903323G>T	ENST00000166244.3	+	3	845	c.773G>T	c.(772-774)gGc>gTc	p.G258V	EPHA8_ENST00000538803.1_Missense_Mutation_p.G258V|EPHA8_ENST00000374644.4_Missense_Mutation_p.G258V	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	258	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G258V(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTGCCCATCGGCAAATGCGTG	0.682000													9	47					3.86212e-05	4.27031e-05	0.069234	1	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078030	90078030	+	RNA	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:90078030G>T	ENST00000390270.2	+	0	164																											CGGAGAAATTGTGTTGACGCA	0.488000													48	92					1.07234e-20	1.74136e-20	0.048971	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88886197	88886197	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:88886197C>A	ENST00000319675.3	-	1	99	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	1								p.M1I(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTTTGCTCTCCATTTCGTTCG	0.522000													23	38					3.28513e-13	4.71533e-13	0.091800	1	0
PRDM9	56979	broad.mit.edu	37	5	23527675	23527675	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:23527675C>A	ENST00000296682.3	+	11	2660	c.2478C>A	c.(2476-2478)caC>caA	p.H826Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	826					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.H826Q(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAGGACACACACAGGGGAGA	0.582000										HNSCC(3;0.000094)			71	286					5.88917e-42	1.17352e-41	0.048971	1	0
HSPA1L	3305	broad.mit.edu	37	6	31779674	31779674	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:31779674C>G	ENST00000375654.4	-	2	265	c.76G>C	c.(76-78)Ggc>Cgc	p.G26R	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G26R	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	26					response to unfolded protein		ATP binding	p.G26R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TCCACCTTGCCGTGCTGGAAC	0.607000													35	134					0	0	0.059317	0	0
PCDH17	27253	broad.mit.edu	37	13	58207122	58207122	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:58207122G>T	ENST00000377918.3	+	1	468	c.442G>T	c.(442-444)Ggc>Tgc	p.G148C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	148	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.G148C(2)		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)		CGCTGCTCCGGGCACCCGCTT	0.617000													12	50					1.61879e-10	2.15311e-10	0.093190	1	0
LAX1	54900	broad.mit.edu	37	1	203743435	203743435	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:203743435G>T	ENST00000442561.2	+	5	1213	c.823G>T	c.(823-825)Gat>Tat	p.D275Y	LAX1_ENST00000367217.5_Missense_Mutation_p.D259Y|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	275					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.D275Y(2)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GACAGGGTTGGATCTCAGTGC	0.493000													20	100					6.33239e-15	9.41207e-15	0.055883	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28296390	28296390	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr21:28296390G>T	ENST00000284987.5	-	8	2896	c.2775C>A	c.(2773-2775)tgC>tgA	p.C925*	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	925	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.C925*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCTTCAACAAGCATTGCTTAA	0.478000													24	60					6.44725e-10	8.31115e-10	0.069288	1	0
LZTS1	11178	broad.mit.edu	37	8	20112440	20112440	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:20112440G>T	ENST00000381569.1	-	2	610	c.253C>A	c.(253-255)Ctg>Atg	p.L85M	LZTS1_ENST00000265801.6_Missense_Mutation_p.L85M|LZTS1_ENST00000522290.1_Missense_Mutation_p.L85M			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	85					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L85M(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCGCTGGACAGTGCCGTGTAA	0.577000													35	71					3.62531e-18	5.65091e-18	0.069456	1	0
FAM170A	340069	broad.mit.edu	37	5	118968566	118968566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:118968566G>T	ENST00000515256.1	+	2	366	c.194G>T	c.(193-195)cGc>cTc	p.R65L				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	65						intracellular	zinc ion binding	p.R65L(4)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TCTTCTTCACGCAAGCTCATC	0.557000													47	90					1.51926e-22	2.52745e-22	0.048971	1	0
FAM135B	51059	broad.mit.edu	37	8	139151256	139151256	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:139151256A>T	ENST00000395297.1	-	18	4044	c.3874T>A	c.(3874-3876)Ttc>Atc	p.F1292I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1292								p.F1292I(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGTAGAGGAAACATTTGCGC	0.448000										HNSCC(54;0.14)			25	100					0	0	0.034045	0	0
ACTA2	59	broad.mit.edu	37	10	90699439	90699439	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:90699439G>T	ENST00000458208.1	-	7	1107	c.633C>A	c.(631-633)gtC>gtA	p.V211V	STAMBPL1_ENST00000371927.3_Intron|ACTA2-AS1_ENST00000437930.3_RNA|ACTA2_ENST00000224784.6_Silent_p.V211V|ACTA2-AS1_ENST00000596007.1_RNA	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	211					response to virus	cytosol	ATP binding	p.V211V(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TGATGTCCCGGACAATCTCAC	0.498000													13	53					1.36491e-13	1.98532e-13	0.105934	1	0
PKNOX2	63876	broad.mit.edu	37	11	125300031	125300031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:125300031C>A	ENST00000298282.9	+	12	1457	c.1186C>A	c.(1186-1188)Ccc>Acc	p.P396T	PKNOX2_ENST00000542175.1_Missense_Mutation_p.P332T|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	396						nucleus	sequence-specific DNA binding transcription factor activity	p.P396T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AGGGACAAACCCCGATGGTAA	0.602000													13	77					0.0167234	0.0174952	0.105934	1	0
OXGR1	27199	broad.mit.edu	37	13	97639260	97639260	+	Missense_Mutation	SNP	C	C	A	rs144457939		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:97639260C>A	ENST00000298440.1	-	4	997	c.754G>T	c.(754-756)Gta>Tta	p.V252L	OXGR1_ENST00000543457.1_Missense_Mutation_p.V252L	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	252						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.V252L(2)|p.V252I(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AAAAAACATACGTAAAATGCA	0.438000													30	74					6.38683e-12	8.93171e-12	0.037714	1	0
CDHR4	389118	broad.mit.edu	37	3	49836271	49836271	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:49836271G>T	ENST00000343366.4	-	3	581	c.559C>A	c.(559-561)Cca>Aca	p.P187T	CDHR4_ENST00000412678.2_Silent_p.L161L|CDHR4_ENST00000487256.1_Silent_p.L161L			A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L161L(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GCGCTCCGTGGAGTTCTAGGC	0.612000													9	31					0.00621372	0.00651303	0.058154	1	0
TBCD	6904	broad.mit.edu	37	17	80726316	80726316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:80726316G>T	ENST00000355528.4	+	5	586	c.456G>T	c.(454-456)atG>atT	p.M152I	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.M152I	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	152					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	p.M152I(2)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCCGCTACATGCTTTTGCTCT	0.498000													184	212					7.48252e-65	1.57162e-64	0.048971	1	0
ZNF326	284695	broad.mit.edu	37	1	90470716	90470716	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:90470716G>T	ENST00000340281.4	+	4	265	c.122G>T	c.(121-123)gGa>gTa	p.G41V	ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000361911.5_Missense_Mutation_p.G41V|ZNF326_ENST00000370447.2_Missense_Mutation_p.G41V	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	41	Gly-rich.|Mediates transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	p.G41V(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TATGGCCATGGATCCTATGGG	0.408000													57	97					7.89702e-26	1.3638e-25	0.048971	1	0
LRRC47	57470	broad.mit.edu	37	1	3703627	3703627	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:3703627T>A	ENST00000378251.1	-	2	890	c.863A>T	c.(862-864)aAg>aTg	p.K288M		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	288					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		ccgcctctgcttcctctccct	0.672000													6	50					0	0	0.029380	0	0
MINK1	50488	broad.mit.edu	37	17	4794819	4794819	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:4794819G>A	ENST00000355280.6	+	16	2005	c.1809G>A	c.(1807-1809)caG>caA	p.Q603Q	MINK1_ENST00000453408.3_Silent_p.Q583Q|MINK1_ENST00000347992.7_Silent_p.Q603Q	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	603					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.Q603Q(2)		central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGTCCCTGCAGGACCAGCCCA	0.682000													3	10					0	0	0.009096	0	0
OR13G1	441933	broad.mit.edu	37	1	247835561	247835561	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:247835561G>C	ENST00000359688.2	-	1	804	c.783C>G	c.(781-783)tcC>tcG	p.S261S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S261S(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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)			ATGTATAGCTGGAAGCAGGGC	0.463000													60	96					0	0	0.048971	0	0
CEP89	84902	broad.mit.edu	37	19	33457284	33457284	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:33457284G>A	ENST00000305768.4	-	2	216	c.128C>T	c.(127-129)cCa>cTa	p.P43L	CEP89_ENST00000590597.1_Missense_Mutation_p.P43L	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	43						centrosome|spindle pole		p.P43L(2)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTCTGGAGATGGGTTGGGGCT	0.572000													8	42					0	0	0.038147	0	0
ATRNL1	26033	broad.mit.edu	37	10	117486760	117486760	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:117486760A>T	ENST00000355044.3	+	27	3924	c.3798A>T	c.(3796-3798)caA>caT	p.Q1266H	ATRNL1_ENST00000303745.7_Missense_Mutation_p.Q59H|ATRNL1_ENST00000423111.2_Missense_Mutation_p.Q317H	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1266						integral to membrane	sugar binding	p.Q1266H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCCTCCAGCAACTGCTTCGAG	0.428000													17	46					0	0	0.033300	0	0
FLT1	2321	broad.mit.edu	37	13	28893606	28893606	+	Missense_Mutation	SNP	G	G	T	rs116034414	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:28893606G>T	ENST00000282397.4	-	24	3491	c.3240C>A	c.(3238-3240)agC>agA	p.S1080R	FLT1_ENST00000543394.1_Missense_Mutation_p.S103R|FLT1_ENST00000540678.1_Missense_Mutation_p.S298R	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1080	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.S1080R(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ACCACACGTCGCTCTTGGTGC	0.463000													5	31					5.9392e-07	7.00851e-07	0.021553	1	0
TIMMDC1	51300	broad.mit.edu	37	3	119222382	119222382	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:119222382T>G	ENST00000494664.1	+	3	566	c.364T>G	c.(364-366)Tct>Gct	p.S122A	TIMMDC1_ENST00000493694.1_Intron	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	122						integral to membrane|mitochondrial inner membrane	protein transporter activity	p.S122A(2)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ACTTTAGCAATCTGCACATCG	0.418000													5	28					0	0	0.029380	0	0
LCP2	3937	broad.mit.edu	37	5	169697832	169697832	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:169697832G>T	ENST00000046794.5	-	7	1029	c.414C>A	c.(412-414)ccC>ccA	p.P138P		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	138					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	p.P138P(6)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CATCTTCCACGGGTGCCTCTT	0.547000													26	107					8.58068e-18	1.33368e-17	0.034045	1	0
AKAP6	9472	broad.mit.edu	37	14	33242894	33242894	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:33242894G>A	ENST00000280979.4	+	12	3553	c.3383G>A	c.(3382-3384)cGt>cAt	p.R1128H	AKAP6_ENST00000557272.1_Missense_Mutation_p.R1128H	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1128					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.R1128H(2)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCCCTCTGTCGTGAAATCAAG	0.448000													32	323					0	0	0.045705	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705328	41705328	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:41705328C>A	ENST00000379485.1	-	1	1554	c.1320G>T	c.(1318-1320)ttG>ttT	p.L440F	KBTBD6_ENST00000499385.2_Missense_Mutation_p.L374F	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	440							protein binding	p.L440F(2)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTCGCCCCCCCAAAATGTAGA	0.473000													16	133					1.3612e-06	1.58564e-06	0.024245	1	0
LRRTM4	80059	broad.mit.edu	37	2	76975867	76975867	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:76975867G>T	ENST00000409911.1	-	3	1953	c.1730C>A	c.(1729-1731)gCc>gAc	p.A577D	LRRTM4_ENST00000409884.1_Missense_Mutation_p.A576D|LRRTM4_ENST00000409093.1_Missense_Mutation_p.A576D	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	576						integral to membrane		p.A576E(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGCCGACCTGGCGATGGTGGC	0.612000													39	139					4.44401e-20	7.13139e-20	0.039052	1	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													6	115					0	0	0.029380	0	0
DZIP1L	199221	broad.mit.edu	37	3	137816623	137816623	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:137816623C>T	ENST00000327532.2	-	3	930	c.568G>A	c.(568-570)Gca>Aca	p.A190T	DZIP1L_ENST00000469243.1_Missense_Mutation_p.A190T	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	190						intracellular	zinc ion binding	p.A190T(2)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						gccacgcctgcatgcctgcgc	0.577000											OREG0015831	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	16					0	0	0.021553	0	0
FAT3	120114	broad.mit.edu	37	11	92534270	92534270	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:92534270C>G	ENST00000298047.6	+	9	8108	c.8091C>G	c.(8089-8091)caC>caG	p.H2697Q	FAT3_ENST00000409404.2_Missense_Mutation_p.H2697Q|FAT3_ENST00000525166.1_Missense_Mutation_p.H2547Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2697	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.H2697Q(4)		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)				TCTATATCCACGTCTTGCCCC	0.458000										TCGA Ovarian(4;0.039)			16	35					0	0	0.038395	0	0
F13B	2165	broad.mit.edu	37	1	197024971	197024971	+	Missense_Mutation	SNP	C	C	A	rs144134146	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:197024971C>A	ENST00000367412.1	-	8	1271	c.1228G>T	c.(1228-1230)Ggg>Tgg	p.G410W		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	410	Sushi 7.				blood coagulation	extracellular region		p.G410W(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GCCAATATCCCGTCTGCAACA	0.363000													44	61					4.01344e-20	6.4595e-20	0.048971	1	0
PXDNL	137902	broad.mit.edu	37	8	52320977	52320977	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:52320977G>T	ENST00000356297.4	-	17	3307	c.3207C>A	c.(3205-3207)gcC>gcA	p.A1069A	PXDNL_ENST00000543296.1_Silent_p.A1069A	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1069					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.A1069A(2)|p.A268A(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACCTAAGGTGGCATTCAGTC	0.468000													23	39					2.98393e-07	3.55199e-07	0.076483	1	0
PPP6R1	22870	broad.mit.edu	37	19	55742243	55742243	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:55742243T>A	ENST00000412770.2	-	22	3035	c.2469A>T	c.(2467-2469)agA>agT	p.R823S	PPP6R1_ENST00000587283.1_Missense_Mutation_p.R823S	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	823	Pro-rich.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	p.R823S(1)		breast(1)	1						TAGAGGGGTCTCTGGTTGCAC	0.662000													17	26					0	0	0.028581	0	0
TGM5	9333	broad.mit.edu	37	15	43552761	43552761	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr15:43552761G>A	ENST00000220420.5	-	2	34	c.27C>T	c.(25-27)ctC>ctT	p.L9L	TGM5_ENST00000349114.4_Silent_p.L9L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	9					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.L9L(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGAGGTCTGTGAGGGCCACTT	0.562000													16	76					0	0	0.024245	0	0
USP33	23032	broad.mit.edu	37	1	78195558	78195558	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:78195558C>A	ENST00000370793.1	-	10	1143	c.797G>T	c.(796-798)gGg>gTg	p.G266V	USP33_ENST00000370792.3_Missense_Mutation_p.G266V|USP33_ENST00000370794.3_Missense_Mutation_p.G235V|USP33_ENST00000357428.1_Missense_Mutation_p.G266V	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	266					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.G266V(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CTGAGAATACCCCCGAAATGT	0.318000													10	132					4.36969e-10	5.70051e-10	0.105934	1	0
FLG2	388698	broad.mit.edu	37	1	152325411	152325411	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:152325411G>A	ENST00000388718.5	-	3	4923	c.4851C>T	c.(4849-4851)caC>caT	p.H1617H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1617							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTAGTTCCGTGTCTCTCAT	0.517000													7	492					0	0	0.047766	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22969320	22969320	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:22969320G>A	ENST00000356864.3	+	2	680	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	TNFRSF10C_ENST00000540813.1_Intron|TNFRSF10C_ENST00000520607.1_3'UTR	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	50					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity	p.G50R(1)		endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CAGCTTCAAGGGGGAGGAGTG	0.463000													6	59					0	0	0.038147	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059040	79059040	+	Silent	SNP	A	A	G	rs144043775	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr15:79059040A>G	ENST00000388820.4	-	19	3423	c.3213T>C	c.(3211-3213)aaT>aaC	p.N1071N		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1071N(2)|p.N1071S(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCTCGTGGAAATTGATGAAAT	0.617000													4	51					0	0	0.029380	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975866	76975866	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:76975866G>T	ENST00000409911.1	-	3	1954	c.1731C>A	c.(1729-1731)gcC>gcA	p.A577A	LRRTM4_ENST00000409884.1_Silent_p.A576A|LRRTM4_ENST00000409093.1_Silent_p.A576A	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	576						integral to membrane		p.A576E(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTGCCGACCTGGCGATGGTGG	0.607000													38	139					5.44703e-19	8.6139e-19	0.111260	1	0
SEC31B	25956	broad.mit.edu	37	10	102249075	102249075	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:102249075G>C	ENST00000370345.3	-	23	3202	c.3105C>G	c.(3103-3105)ccC>ccG	p.P1035P		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1035	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		p.P1035P(2)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GGGGCTGTGAGGGAAGAATCC	0.537000													9	27					0	0	0.047766	0	0
FCRL2	79368	broad.mit.edu	37	1	157737060	157737060	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:157737060C>A	ENST00000361516.3	-	6	1171	c.1123G>T	c.(1123-1125)Ggg>Tgg	p.G375W	FCRL2_ENST00000469986.1_Missense_Mutation_p.G122W|FCRL2_ENST00000392274.3_Missense_Mutation_p.G375W|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	375	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	p.G375W(2)|p.G122W(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACTGGGCCCCCAGGCCGTTG	0.577000													82	97					4.78148e-37	9.35657e-37	0.048971	1	0
ZIC2	7546	broad.mit.edu	37	13	100637593	100637593	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:100637593C>T	ENST00000376335.3	+	3	1549	c.1256C>T	c.(1255-1257)cCg>cTg	p.P419L	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	419					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P419L(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGTCCTCCCCGCAGGGCTCT	0.711000													11	38					0	0	0.080935	0	0
DYM	54808	broad.mit.edu	37	18	46858254	46858254	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:46858254C>A	ENST00000269445.6	-	8	1200	c.743G>T	c.(742-744)gGa>gTa	p.G248V	DYM_ENST00000578396.1_Missense_Mutation_p.G93V|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	248						Golgi apparatus		p.G248V(2)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TGATGCAAGTCCATAAAGCAG	0.398000													22	124					2.98393e-07	3.55199e-07	0.076483	1	0
TRIM69	140691	broad.mit.edu	37	15	45052015	45052015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr15:45052015C>A	ENST00000558173.1	+	4	5039	c.294C>A	c.(292-294)taC>taA	p.Y98*	TRIM69_ENST00000558329.1_Nonsense_Mutation_p.Y81*|TRIM69_ENST00000560442.1_Nonsense_Mutation_p.Y98*|TRIM69_ENST00000561043.1_Nonsense_Mutation_p.Y65*|TRIM69_ENST00000559390.1_Nonsense_Mutation_p.Y302*|TRIM69_ENST00000338264.4_Nonsense_Mutation_p.Y143*|TRIM69_ENST00000329464.4_Nonsense_Mutation_p.Y302*			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	302	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding	p.Y302*(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TGGGCCAGTACAAAGGTCCTA	0.473000													10	108					1.33987e-11	1.84529e-11	0.069234	1	0
PRDM2	7799	broad.mit.edu	37	1	14106677	14106677	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:14106677G>T	ENST00000235372.7	+	8	3243	c.2387G>T	c.(2386-2388)aGc>aTc	p.S796I	PRDM2_ENST00000413440.1_Missense_Mutation_p.S595I|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.S796I|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.S595I	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	796						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S796I(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAAACTGTGAGCCCTCCATGC	0.468000													54	66					9.72345e-25	1.66338e-24	0.048971	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79059041	79059041	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr15:79059041T>C	ENST00000388820.4	-	19	3422	c.3212A>G	c.(3211-3213)aAt>aGt	p.N1071S		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1071S(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCGTGGAAATTGATGAAATT	0.617000													4	51					0	0	0.029380	0	0
LILRA1	11024	broad.mit.edu	37	19	55106135	55106135	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:55106135C>T	ENST00000453777.1	+	4	246	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.L26F	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	26					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.L26F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCCAGGGACCCTCCCCAAGCC	0.587000													33	82					0	0	0.059317	0	0
CFH	3075	broad.mit.edu	37	1	196683021	196683021	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:196683021G>A	ENST00000367429.4	+	10	1733	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	498	Sushi 8.				complement activation, alternative pathway	extracellular space		p.G498E(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGGAAAGATGGATGGTCAGCT	0.333000													12	83					0	0	0.093190	0	0
TBC1D7	51256	broad.mit.edu	37	6	13321220	13321220	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:13321220C>A	ENST00000607658.1	-	3	370	c.220G>T	c.(220-222)Gcc>Tcc	p.A74S	TBC1D7_ENST00000356436.4_Missense_Mutation_p.A101S|TBC1D7_ENST00000343141.4_Missense_Mutation_p.A101S|TBC1D7_ENST00000379307.2_Missense_Mutation_p.A74S|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000379300.3_Missense_Mutation_p.A101S			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	101	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	p.A101S(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			TGAGGTGTGGCATCACTAACA	0.502000													127	243					1.04718e-44	2.1021e-44	0.048971	1	0
PCDHGB6	56100	broad.mit.edu	37	5	140789266	140789266	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:140789266G>T	ENST00000520790.1	+	1	1497	c.1497G>T	c.(1495-1497)ctG>ctT	p.L499L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1												p.L499L(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAGCCCCTGGCGGTGTCGT	0.642000													14	32					4.3838e-07	5.20696e-07	0.105934	1	0
OTUD6A	139562	broad.mit.edu	37	X	69282458	69282458	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:69282458C>G	ENST00000338352.2	+	1	118	c.84C>G	c.(82-84)agC>agG	p.S28R		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	28								p.S28R(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGATCCGGAGCTTAAAAAACT	0.582000													14	14					0	0	0.105934	0	0
DDX42	11325	broad.mit.edu	37	17	61886919	61886919	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:61886919G>T	ENST00000578681.1	+	12	1753		c.e12-1		DDX42_ENST00000457800.2_Splice_Site|DDX42_ENST00000389924.2_Splice_Site|DDX42_ENST00000583590.1_Splice_Site|DDX42_ENST00000359353.5_Splice_Site	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.?(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TGATCTTATAGGGTCGACTGA	0.378000													11	86					3.86212e-05	4.27031e-05	0.069234	1	0
IGKV3-20	28912	broad.mit.edu	37	2	89442329	89442329	+	RNA	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:89442329G>T	ENST00000492167.1	-	0	127																											CCTGGAGACTGCGTCAACACA	0.498000													24	124					4.7796e-09	5.9499e-09	0.099896	1	0
GPR151	134391	broad.mit.edu	37	5	145895383	145895383	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:145895383C>T	ENST00000311104.2	-	1	370	c.294G>A	c.(292-294)gcG>gcA	p.A98A		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	98						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A98A(3)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTGGAGTACGCCGTAGCTC	0.512000													18	100					0	0	0.049695	0	0
MUC16	94025	broad.mit.edu	37	19	9089844	9089844	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:9089844C>A	ENST00000397910.4	-	1	2174	c.1971G>T	c.(1969-1971)aaG>aaT	p.K657N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	657	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.K657N(4)		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						CAGCAGCCGTCTTGCTCACTG	0.532000													17	179					3.01185e-09	3.7927e-09	0.091800	1	0
SNTG1	54212	broad.mit.edu	37	8	51351136	51351136	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:51351136G>A	ENST00000522124.1	+	5	857	c.196G>A	c.(196-198)Gga>Aga	p.G66R	SNTG1_ENST00000517473.1_Missense_Mutation_p.G66R|SNTG1_ENST00000518864.1_Missense_Mutation_p.G66R|SNTG1_ENST00000276467.5_Missense_Mutation_p.G66R	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	66	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.G66R(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ACAAACAGTAGGAGGATTTGG	0.383000													9	33					0	0	0.047766	0	0
TMEM106B	54664	broad.mit.edu	37	7	12270059	12270059	+	Silent	SNP	T	T	C	rs142177964		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:12270059T>C	ENST00000396667.2	+	7	949	c.627T>C	c.(625-627)taT>taC	p.Y209Y	TMEM106B_ENST00000396668.3_Silent_p.Y209Y	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	209						integral to membrane		p.Y209Y(2)		NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		AAATGAGTTATATGTAGTAAG	0.269000													69	107					0	0	0.048971	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975892	76975892	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:76975892C>A	ENST00000409911.1	-	3	1928	c.1705G>T	c.(1705-1707)Gac>Tac	p.D569Y	LRRTM4_ENST00000409884.1_Missense_Mutation_p.D568Y|LRRTM4_ENST00000409093.1_Missense_Mutation_p.D568Y	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	568						integral to membrane		p.D568Y(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGCTGTGGTCTCGGCCCAGC	0.607000													17	142					4.96729e-08	6.05876e-08	0.049695	1	0
SEMA3D	223117	broad.mit.edu	37	7	84669987	84669987	+	Splice_Site	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:84669987A>T	ENST00000284136.6	-	9	1090		c.e9+1		SEMA3D_ENST00000484038.1_Splice_Site	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D						cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.?(2)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGTTGAACATACCTGGTTGTA	0.318000													24	25					0	0	0.083992	0	0
ZC3H6	376940	broad.mit.edu	37	2	113082754	113082754	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:113082754G>T	ENST00000409871.1	+	11	2467	c.2066G>T	c.(2065-2067)aGg>aTg	p.R689M	ZC3H6_ENST00000343936.4_Missense_Mutation_p.R689M	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	689							nucleic acid binding|zinc ion binding	p.R689M(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAACCTCATAGGGCACCAAGC	0.443000													12	38					1.61879e-10	2.15311e-10	0.093190	1	0
C1QTNF1	114897	broad.mit.edu	37	17	77044101	77044101	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:77044101C>A	ENST00000339142.2	+	5	1332	c.777C>A	c.(775-777)atC>atA	p.I259I	C1QTNF1_ENST00000583904.1_Silent_p.I259I|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000354124.3_Silent_p.I269I|C1QTNF1_ENST00000581774.1_Silent_p.I259I|C1QTNF1_ENST00000580454.1_Silent_p.I259I|C1QTNF1_ENST00000580474.1_Silent_p.I259I|C1QTNF1_ENST00000578229.1_Silent_p.I177I|C1QTNF1_ENST00000392445.2_Silent_p.I259I|C1QTNF1_ENST00000311661.4_Silent_p.I177I|C1QTNF1_ENST00000579760.1_Silent_p.I259I	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	259	C1q.					collagen		p.I177I(2)|p.I259I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AGAACGCCATCTTCAGCGAGG	0.622000													34	51					9.65963e-10	1.23643e-09	0.059317	1	0
CDH7	1005	broad.mit.edu	37	18	63527052	63527052	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:63527052G>T	ENST00000536984.2	+	10	2297	c.1603G>T	c.(1603-1605)Gat>Tat	p.D535Y	CDH7_ENST00000397968.2_Missense_Mutation_p.D535Y|CDH7_ENST00000323011.3_Missense_Mutation_p.D535Y			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	535	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D535Y(4)|p.L533_D535del(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTCATTGAAAGATAACAAAGG	0.368000													14	51					9.31168e-06	1.05532e-05	0.105934	1	0
SAGE1	55511	broad.mit.edu	37	X	134992580	134992580	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:134992580C>A	ENST00000535938.1	+	16	2038	c.1871C>A	c.(1870-1872)gCa>gAa	p.A624E	SAGE1_ENST00000537770.1_Missense_Mutation_p.A248E|SAGE1_ENST00000370709.3_Missense_Mutation_p.A624E|SAGE1_ENST00000324447.3_Missense_Mutation_p.A624E	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	624								p.A624E(2)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCAGATGCTGCAGTCACTCAC	0.468000													71	77					1.79293e-35	3.45871e-35	0.048971	1	0
SKP2	6502	broad.mit.edu	37	5	36152975	36152975	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:36152975G>T	ENST00000274255.6	+	2	307	c.111G>T	c.(109-111)ggG>ggT	p.G37G	SKP2_ENST00000274254.5_Silent_p.G37G|SKP2_ENST00000546211.1_5'UTR|SKP2_ENST00000508514.1_Silent_p.G37G	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	37					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.G37G(4)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGGCATGGGGGTCTCCGCCC	0.602000													58	104					1.46156e-29	2.66808e-29	0.048971	1	0
TP53	7157	broad.mit.edu	37	17	7578556	7578556	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:7578556T>A	ENST00000420246.2	-	5	508		c.e5-2		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		AGGGGAGTACTGTAGGAAGAG	0.552000		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)			17	24					0	0	0.033300	0	0
EVI2A	2123	broad.mit.edu	37	17	29645450	29645450	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:29645450G>T	ENST00000247270.3	-	3	987	c.651C>A	c.(649-651)gaC>gaA	p.D217E	CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.H134N|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000462804.2_Missense_Mutation_p.D194E|EVI2A_ENST00000461237.1_Missense_Mutation_p.D194E|NF1_ENST00000581113.2_3'UTR	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	194						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)|p.D217E(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTTTCCAAGTGTCTGATTCAG	0.468000													33	41					5.60225e-13	7.97807e-13	0.041601	1	0
CEP89	84902	broad.mit.edu	37	19	33444562	33444562	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:33444562C>A	ENST00000305768.4	-	4	539	c.451G>T	c.(451-453)Ggc>Tgc	p.G151C	CEP89_ENST00000590597.1_Missense_Mutation_p.G151C	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	151						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TCACTGTGGCCTCCTCTGTCC	0.488000													9	607					1.47197e-15	2.22431e-15	0.098360	1	0
FAM98A	25940	broad.mit.edu	37	2	33810355	33810355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:33810355C>A	ENST00000238823.8	-	8	1185	c.1045G>T	c.(1045-1047)Gga>Tga	p.G349*	FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000441530.2_Nonsense_Mutation_p.G154*			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	350	Gly-rich.							p.G349*(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCTCGTCCTCCGTATGAGGAA	0.597000													47	105					8.48111e-28	1.50284e-27	0.048971	1	0
AMER3	205147	broad.mit.edu	37	2	131521360	131521360	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:131521360C>T	ENST00000423981.1	+	2	1825	c.1715C>T	c.(1714-1716)cCg>cTg	p.P572L	AMER3_ENST00000321420.4_Missense_Mutation_p.P572L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.P572L(1)									TGGGCACACCCGGGCACCACA	0.677000													11	56					0	0	0.080935	0	0
P2RX2	22953	broad.mit.edu	37	12	133198443	133198443	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:133198443C>A	ENST00000389110.3	+	11	1338	c.1301C>A	c.(1300-1302)cCg>cAg	p.P434Q	P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000348800.5_Intron|P2RX2_ENST00000352418.4_Missense_Mutation_p.P362Q|P2RX2_ENST00000343948.4_Missense_Mutation_p.P460Q|P2RX2_ENST00000350048.5_Missense_Mutation_p.P410Q|P2RX2_ENST00000351222.4_Missense_Mutation_p.P342Q	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	434					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	p.P460Q(2)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CCAGCCTTCCCGCCCCTGCGG	0.692000													32	80					1.13719e-10	1.53127e-10	0.037714	1	0
KCNK18	338567	broad.mit.edu	37	10	118969187	118969187	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:118969187T>C	ENST00000334549.1	+	3	532	c.532T>C	c.(532-534)Tcc>Ccc	p.S178P		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	178						integral to membrane|plasma membrane		p.S178P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCCCTCCTCTCCAAGTGGTG	0.512000													27	128					0	0	0.091800	0	0
MTPAP	55149	broad.mit.edu	37	10	30629219	30629219	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:30629219C>A	ENST00000358107.4	-	4	880	c.881G>T	c.(880-882)cGg>cTg	p.R294L	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Missense_Mutation_p.R164L			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	164					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	p.R294L(2)|p.R164L(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ATTACTTGACCGTACGCGTGA	0.403000													26	98					4.59853e-10	5.95619e-10	0.108266	1	0
ZNF827	152485	broad.mit.edu	37	4	146823920	146823920	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:146823920T>A	ENST00000508784.1	-	2	718	c.491A>T	c.(490-492)cAg>cTg	p.Q164L	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.Q164L			Q17R98	ZN827_HUMAN	zinc finger protein 827	164				Q -> R (in Ref. 2; BAC03591).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q164L(4)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACTGAGCTGCTGGGCGTGGTG	0.537000													39	109					0	0	0.042209	0	0
FAM155A	728215	broad.mit.edu	37	13	108518829	108518829	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:108518829C>A	ENST00000375915.2	-	1	254	c.116G>T	c.(115-117)cGa>cTa	p.R39L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	39						integral to membrane	binding	p.R39L(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CAGAGACAGTCGCCATTTCTG	0.557000													93	249					3.01496e-42	6.02992e-42	0.048971	1	0
PLXNB2	23654	broad.mit.edu	37	22	50719028	50719028	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:50719028C>A	ENST00000449103.1	-	25	4205	c.4065G>T	c.(4063-4065)acG>acT	p.T1355T	PLXNB2_ENST00000359337.4_Silent_p.T1355T			O15031	PLXB2_HUMAN	plexin B2	1355					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.T1398T(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGCGCCACCGTCAGCAGGG	0.627000													11	91					4.68919e-08	5.7324e-08	0.069234	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72520242	72520242	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:72520242C>T	ENST00000373208.1	+	22	3314	c.3314C>T	c.(3313-3315)cCt>cTt	p.P1105L	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P1102L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1102	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1105L(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGCcccaaccctggcccagac	0.637000													33	69					0	0	0.045705	0	0
ABCA13	154664	broad.mit.edu	37	7	48416095	48416095	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:48416095G>T	ENST00000435803.1	+	35	11285	c.11261G>T	c.(11260-11262)tGg>tTg	p.W3754L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3754					transport	integral to membrane	ATP binding|ATPase activity	p.W3699L(2)|p.W3754L(2)		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						ACATTTGGCTGGGTTTGCTGG	0.403000													62	235					4.09171e-25	7.04395e-25	0.048971	1	0
CHCHD4	131474	broad.mit.edu	37	3	14154566	14154566	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:14154566C>T	ENST00000295767.5	-	4	613	c.289G>A	c.(289-291)Ggg>Agg	p.G97R	CHCHD4_ENST00000396914.3_Missense_Mutation_p.G84R	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	84	CHCH.				protein transport|transmembrane transport	mitochondrial intermembrane space		p.G97R(2)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CAGTCTGACCCCTTGATCTCC	0.537000													14	82					0	0	0.020292	0	0
GUCY2F	2986	broad.mit.edu	37	X	108638599	108638599	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:108638599G>T	ENST00000218006.2	-	12	2686	c.2395C>A	c.(2395-2397)Cga>Aga	p.R799R		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	799	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.R799R(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAAGTTGGTCGTTGTTCTGCA	0.502000													134	129					1.08021e-59	2.26012e-59	0.048971	1	0
OR5L1	219437	broad.mit.edu	37	11	55579661	55579661	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:55579661C>A	ENST00000333973.2	+	1	808	c.719C>A	c.(718-720)aCc>aAc	p.T240N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T240N(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCCTTCTCCACCTGTGCTTCC	0.507000													58	109					8.28887e-21	1.35004e-20	0.048971	1	0
TDRD1	56165	broad.mit.edu	37	10	115973156	115973156	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:115973156A>G	ENST00000251864.2	+	15	2036	c.1883A>G	c.(1882-1884)aAa>aGa	p.K628R	TDRD1_ENST00000369280.1_Missense_Mutation_p.K628R|TDRD1_ENST00000369281.2_Missense_Mutation_p.K571R|TDRD1_ENST00000369282.1_Missense_Mutation_p.K628R|TDRD1_ENST00000422662.1_Missense_Mutation_p.K232R	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	628					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.K628R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGTCTCATGAAAAAACTTGTA	0.363000													5	114					0	0	0.021553	0	0
RSAD2	91543	broad.mit.edu	37	2	7036027	7036027	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:7036027G>A	ENST00000382040.3	+	6	1176	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	RSAD2_ENST00000541728.1_Missense_Mutation_p.G240E	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	347					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	p.G347E(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CTGAAGCGAGGAGGAAAATAC	0.443000													14	52					0	0	0.105934	0	0
USP16	10600	broad.mit.edu	37	21	30415863	30415863	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr21:30415863T>C	ENST00000334352.4	+	14	1530	c.1299T>C	c.(1297-1299)tcT>tcC	p.S433S	USP16_ENST00000399975.3_Silent_p.S432S|USP16_ENST00000399976.2_Silent_p.S433S|USP16_ENST00000535828.1_Silent_p.S62S	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	433					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.S433S(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						ATATTCCTTCTGGAACAAGTA	0.333000													11	46					0	0	0.080935	0	0
RLN2	6019	broad.mit.edu	37	9	5300244	5300244	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:5300244T>A	ENST00000381627.3	-	2	800	c.412A>T	c.(412-414)Agt>Tgt	p.S138C	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	138					female pregnancy	extracellular region	hormone activity	p.S138C(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		GCGGCTTCACTTTGTCTATTG	0.378000													41	139					0	0	0.092188	0	0
KIF21A	55605	broad.mit.edu	37	12	39734030	39734030	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:39734030C>A	ENST00000395670.3	-	16	2666	c.2247G>T	c.(2245-2247)caG>caT	p.Q749H	KIF21A_ENST00000544797.2_Missense_Mutation_p.Q736H|KIF21A_ENST00000361961.3_Missense_Mutation_p.Q736H|KIF21A_ENST00000541463.2_Missense_Mutation_p.Q736H|KIF21A_ENST00000361418.5_Missense_Mutation_p.Q749H			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	749					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.Q736H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CATACTGAGACTGATTTTTAA	0.338000													15	33					4.7546e-09	5.94599e-09	0.028581	1	0
POLG	5428	broad.mit.edu	37	15	89862224	89862224	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr15:89862224G>A	ENST00000268124.5	-	20	3544	c.3211C>T	c.(3211-3213)Cgt>Tgt	p.R1071C	POLG_ENST00000442287.2_Missense_Mutation_p.R1071C	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1071					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	p.R1071C(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ACCGGGGTACGTGGTATGTCA	0.587000								DNA polymerases (catalytic subunits)					20	68					0	0	0.076483	0	0
BIRC6	57448	broad.mit.edu	37	2	32667152	32667152	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:32667152T>A	ENST00000421745.2	+	18	4098	c.3964T>A	c.(3964-3966)Tta>Ata	p.L1322I		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1322					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.L1322I(2)|p.L1294I(2)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGTGCCATGTTACAGTTTTC	0.383000													15	75					0	0	0.028581	0	0
TENM1	10178	broad.mit.edu	37	X	123870955	123870955	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:123870955G>T	ENST00000422452.2	-	4	691	c.628C>A	c.(628-630)Ccc>Acc	p.P210T	TENM1_ENST00000371130.3_Missense_Mutation_p.P210T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.P212T(2)									GCTGCAGGGGGTGGCTTCCTG	0.622000													87	103					1.3466e-33	2.55244e-33	0.048971	1	0
SPATA18	132671	broad.mit.edu	37	4	52944926	52944926	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:52944926C>A	ENST00000295213.4	+	8	1420	c.1046C>A	c.(1045-1047)gCa>gAa	p.A349E	SPATA18_ENST00000419395.2_Missense_Mutation_p.A317E	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	349					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.A349E(4)		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)			GCAAAAATGGCATTCAGACAC	0.383000													21	105					1.2644e-06	1.47604e-06	0.055883	1	0
TSGA13	114960	broad.mit.edu	37	7	130353924	130353924	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:130353924G>T	ENST00000456951.1	-	9	1609	c.758C>A	c.(757-759)cCc>cAc	p.P253H	TSGA13_ENST00000356588.3_Missense_Mutation_p.P253H			Q96PP4	TSG13_HUMAN	testis specific, 13	253								p.P253H(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GCTCTCCCCGGGCGCGGTTCT	0.597000													166	117					1.96943e-83	4.20144e-83	0.048971	1	0
ZNF611	81856	broad.mit.edu	37	19	53208882	53208882	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:53208882C>T	ENST00000543227.1	-	6	1700	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	ZNF611_ENST00000602162.1_Missense_Mutation_p.D407N|ZNF611_ENST00000319783.1_Missense_Mutation_p.D476N|ZNF611_ENST00000595798.1_Missense_Mutation_p.D407N|ZNF611_ENST00000540744.1_Missense_Mutation_p.D476N|ZNF611_ENST00000453741.2_Missense_Mutation_p.D407N	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D476N(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCTCCACAGTCAATTCTAGTA	0.378000													25	155					0	0	0.091800	0	0
OR56A1	120796	broad.mit.edu	37	11	6048891	6048891	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:6048891G>T	ENST00000316650.5	-	1	80	c.44C>A	c.(43-45)cCa>cAa	p.P15Q		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P15Q(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCAGAGACTGGGACAGTGGA	0.522000													49	94					2.01807e-28	3.6232e-28	0.048971	1	0
NLRC3	197358	broad.mit.edu	37	16	3615000	3615000	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:3615000C>A	ENST00000301749.7	-	0	443				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	p.G60V(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGGCCCTGGCCGGCCTCCCT	0.687000													20	13					2.32416e-17	3.56153e-17	0.069288	1	0
CDH20	28316	broad.mit.edu	37	18	59217422	59217422	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:59217422C>A	ENST00000262717.4	+	11	2258	c.1860C>A	c.(1858-1860)ggC>ggA	p.G620G	CDH20_ENST00000538374.1_Silent_p.G620G|CDH20_ENST00000536675.2_Silent_p.G620G			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	620					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G620G(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGAGCCGGGGCGCCCTCATTG	0.582000													8	91					1.06961e-07	1.29304e-07	0.038147	1	0
MED23	9439	broad.mit.edu	37	6	131912668	131912668	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:131912668C>A	ENST00000403834.3	-	26	3663		c.e26-1		MED23_ENST00000368068.3_Splice_Site|MED23_ENST00000368060.3_Splice_Site|MED23_ENST00000354577.4_Splice_Site|MED23_ENST00000545957.1_Splice_Site|MED23_ENST00000368058.1_Splice_Site|MED23_ENST00000479213.1_Splice_Site			Q9ULK4	MED23_HUMAN	mediator complex subunit 23						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.?(4)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AATATGGCTCCTTTAAAATCG	0.403000													23	36					1.28384e-07	1.54515e-07	0.062417	1	0
NRCAM	4897	broad.mit.edu	37	7	107830179	107830179	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:107830179G>T	ENST00000379028.3	-	20	2415	c.1945C>A	c.(1945-1947)Cct>Act	p.P649T	NRCAM_ENST00000413765.2_Missense_Mutation_p.P630T|NRCAM_ENST00000379022.4_Missense_Mutation_p.P649T|NRCAM_ENST00000379024.4_Missense_Mutation_p.P630T|NRCAM_ENST00000351718.4_Missense_Mutation_p.P633T|NRCAM_ENST00000425651.2_Missense_Mutation_p.P649T			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	649	Fibronectin type-III 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.P649T(2)|p.P633T(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCAAAGGGAGGATTTGGGACA	0.448000													35	21					2.42023e-17	3.68797e-17	0.059317	1	0
RSPH4A	345895	broad.mit.edu	37	6	116938033	116938033	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:116938033G>T	ENST00000229554.5	+	1	384	c.247G>T	c.(247-249)Gct>Tct	p.A83S	RSPH4A_ENST00000368580.4_Missense_Mutation_p.A83S|RSPH4A_ENST00000368581.4_Missense_Mutation_p.A83S	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	83					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.A83S(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATCATCACCTGCTCCTGTCTC	0.647000									Kartagener syndrome				16	41					1.02788e-11	1.41921e-11	0.033300	1	0
ATRNL1	26033	broad.mit.edu	37	10	117061553	117061553	+	Splice_Site	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:117061553C>G	ENST00000355044.3	+	17	2944	c.2818_splice	c.e17+1	p.P940_splice	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Splice_Site_p.P37_splice	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	940						integral to membrane	sugar binding	p.P940A(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CACCTGCTCCCGTAAGTATTT	0.358000													17	106					0	0	0.028581	0	0
MUC3A	4584	broad.mit.edu	37	7	100606797	100606797	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:100606797C>A	ENST00000319509.7	+	4	1887	c.1887C>A	c.(1885-1887)tcC>tcA	p.S629S						mucin 3A, cell surface associated									p.S629S(4)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AGATCCTGTCCCTGAGGTAGG	0.507000													11	10					3.86212e-05	4.27031e-05	0.069234	1	0
LYZL2	119180	broad.mit.edu	37	10	30918543	30918543	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:30918543C>A	ENST00000375318.2	-	1	148	c.92G>T	c.(91-93)gGc>gTc	p.G31V		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.G31V(2)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				ATTCCTGGTGCCTGCCGCAGA	0.522000													19	55					1.96292e-10	2.59813e-10	0.055883	1	0
SLC14A2	8170	broad.mit.edu	37	18	43249375	43249375	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:43249375G>C	ENST00000255226.6	+	16	2957	c.2141G>C	c.(2140-2142)gGc>gCc	p.G714A	SLC14A2_ENST00000589658.1_Missense_Mutation_p.G191A|SLC14A2_ENST00000586448.1_Missense_Mutation_p.G714A|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	714						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.G714A(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGCCACGGGCCACTACAAC	0.557000													39	221					0	0	0.080422	0	0
SBF1	6305	broad.mit.edu	37	22	50900255	50900255	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:50900255C>A	ENST00000380817.2	-	21	2796	c.2613G>T	c.(2611-2613)cgG>cgT	p.R871R	SBF1_ENST00000348911.6_Silent_p.R872R|SBF1_ENST00000390679.3_Silent_p.R871R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	871					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	p.R871R(4)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGGCTCTCCCGCTGCACGG	0.647000													27	69					1.74807e-11	2.38333e-11	0.045705	1	0
TYRP1	7306	broad.mit.edu	37	9	12708116	12708116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:12708116G>T	ENST00000388918.5	+	7	1510	c.1381G>T	c.(1381-1383)Gga>Tga	p.G461*	TYRP1_ENST00000381136.2_Nonsense_Mutation_p.G171*|TYRP1_ENST00000381137.2_Nonsense_Mutation_p.G170*|TYRP1_ENST00000473504.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	461					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.G461*(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AGACAACCTGGGATACACTTA	0.388000									Oculocutaneous Albinism				21	33					1.50039e-11	2.05079e-11	0.062417	1	0
BAI1	575	broad.mit.edu	37	8	143623594	143623594	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:143623594G>T	ENST00000517894.1	+	28	4893	c.3999G>T	c.(3997-3999)ctG>ctT	p.L1333L	BAI1_ENST00000323289.5_Silent_p.L1333L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1333					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.L1333L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACTCGGAGCTGAGCCGGGCCC	0.642000													46	71					4.18559e-23	7.02765e-23	0.048971	1	0
DAOA-AS1	282706	broad.mit.edu	37	13	106118506	106118506	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:106118506C>A	ENST00000448407.1	-	0	739					NR_040247.1																						gagctacaccccaaattagtg	0.428000													3	12					0.00024832	0.000265917	0.009096	1	0
SLC5A9	200010	broad.mit.edu	37	1	48694626	48694626	+	Splice_Site	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:48694626C>T	ENST00000236495.5	+	3	389	c.339_splice	c.e3+1	p.N113_splice	SLC5A9_ENST00000438567.2_Splice_Site_p.N113_splice|SLC5A9_ENST00000420136.2_Splice_Site_p.N106_splice|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000533824.1_Splice_Site_p.N113_splice	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	113						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	p.N106N(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TCGAGTGGAACGTAAGGAAGC	0.582000													10	145					0	0	0.058154	0	0
ISYNA1	51477	broad.mit.edu	37	19	18546722	18546722	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:18546722T>C	ENST00000545187.1	-	5	821	c.535A>G	c.(535-537)Atc>Gtc	p.I179V	ISYNA1_ENST00000457269.3_Missense_Mutation_p.I275V|ISYNA1_ENST00000317018.6_Missense_Mutation_p.I127V|ISYNA1_ENST00000578963.1_Missense_Mutation_p.I201V|ISYNA1_ENST00000338128.7_Missense_Mutation_p.I329V			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	329					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	p.I329V(2)		breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TAACTCACGATGGACATGGTC	0.627000													73	161					0	0	0.048971	0	0
ABCA13	154664	broad.mit.edu	37	7	48654949	48654949	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:48654949G>A	ENST00000435803.1	+	59	14837	c.14813G>A	c.(14812-14814)gGt>gAt	p.G4938D	ABCA13_ENST00000544596.1_Missense_Mutation_p.G668D	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4938	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.G4883D(1)|p.G4938D(1)		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						AAATGTCTTGGTTCTCCTCAG	0.418000													4	18					0	0	0.021553	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418193	38418193	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:38418193G>T	ENST00000322350.5	+	12	1866	c.1520G>T	c.(1519-1521)cGg>cTg	p.R507L	EGFLAM_ENST00000354891.3_Missense_Mutation_p.R507L|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R273L|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	507	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.R507L(4)		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)					ATTACTTTCCGGACACCTCTC	0.453000													39	150					1.22674e-20	1.98616e-20	0.104719	1	0
TMEM143	55260	broad.mit.edu	37	19	48845850	48845850	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:48845850G>A	ENST00000293261.3	-	6	1228	c.912C>T	c.(910-912)ctC>ctT	p.L304L	TMEM143_ENST00000435956.3_Silent_p.L269L|TMEM143_ENST00000377431.2_Silent_p.L204L|TMEM143_ENST00000436660.2_Silent_p.L239L|TMEM143_ENST00000541566.1_Silent_p.L194L	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	304						integral to membrane|mitochondrion		p.L304L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TGGCCACCTTGAGGTCGGTTA	0.672000													5	46					0	0	0.014758	0	0
ASXL3	80816	broad.mit.edu	37	18	31319419	31319419	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:31319419C>A	ENST00000269197.5	+	11	2051	c.2051C>A	c.(2050-2052)tCc>tAc	p.S684Y		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	684	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.S391Y(2)|p.S684Y(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTCCAATATCCACTTCACCT	0.363000													56	101					2.31418e-15	3.47766e-15	0.048971	1	0
PGLYRP4	57115	broad.mit.edu	37	1	153312856	153312856	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:153312856C>A	ENST00000368739.3	-	7	1171		c.e7+1		PGLYRP4_ENST00000359650.5_Splice_Site			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4						defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.?(3)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACCCACTCACTTATAACCAA	0.512000													56	80					1.53716e-24	2.62136e-24	0.048971	1	0
DMP1	1758	broad.mit.edu	37	4	88584230	88584230	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:88584230C>A	ENST00000339673.6	+	6	1399	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K	RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.Q418K|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	434					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.Q434K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GGAGGGCCTCCAGTCTCACAG	0.547000													43	78					6.1244e-12	8.58679e-12	0.098360	1	0
FBLN2	2199	broad.mit.edu	37	3	13679148	13679148	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:13679148C>T	ENST00000404922.3	+	18	3544	c.3425C>T	c.(3424-3426)aCg>aTg	p.T1142M	FBLN2_ENST00000535798.1_Missense_Mutation_p.T1121M|FBLN2_ENST00000295760.7_Missense_Mutation_p.T1095M|FBLN2_ENST00000492059.1_Missense_Mutation_p.T1142M	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1095	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.T561M(2)|p.T1142M(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AACTTCCAGACGGGCCTCCTG	0.627000													13	41					0	0	0.093190	0	0
ATP2B2	491	broad.mit.edu	37	3	10420009	10420009	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:10420009G>A	ENST00000397077.1	-	9	1568	c.993C>T	c.(991-993)gcC>gcT	p.A331A	ATP2B2_ENST00000343816.4_Silent_p.A362A|ATP2B2_ENST00000383800.4_Silent_p.A331A|ATP2B2_ENST00000352432.4_Silent_p.A376A|ATP2B2_ENST00000360273.2_Silent_p.A376A			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	376					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.A376A(2)|p.A331A(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGTGCATGCTGGCCTTCTTCC	0.647000													27	146					0	0	0.099896	0	0
VGLL3	389136	broad.mit.edu	37	3	87018101	87018101	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:87018101C>A	ENST00000398399.2	-	3	939	c.576G>T	c.(574-576)ctG>ctT	p.L192L	VGLL3_ENST00000383698.3_Silent_p.L192L	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.L192L(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGTCTGATGCAGGTTGTGTC	0.582000													24	130					7.88262e-20	1.25752e-19	0.083992	1	0
RRN3P2	653390	broad.mit.edu	37	16	29107532	29107532	+	RNA	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:29107532T>A	ENST00000564580.1	+	0	924																		p.A285A(2)									GGCAGGCTGCTGGAAATTATA	0.373000													38	88					0	0	0.045515	0	0
CXADRP3	440224	broad.mit.edu	37	18	14479211	14479211	+	RNA	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:14479211C>G	ENST00000581457.1	-	0	697					NR_024076.1																						GATACTCAAACTTCTGGTGAA	0.567000													3	21					0	0	0.004672	0	0
DDIT3	1649	broad.mit.edu	37	12	57910683	57910683	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:57910683C>A	ENST00000551116.1	-	4	755	c.488G>T	c.(487-489)cGg>cTg	p.R163L	DDIT3_ENST00000346473.3_Missense_Mutation_p.R140L|DDIT3_ENST00000547303.1_Missense_Mutation_p.R140L|DDIT3_ENST00000552740.1_Missense_Mutation_p.R163L	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	140					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	p.R140L(2)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						CTGCTTGAGCCGTTCATTCTC	0.537000			T	FUS	liposarcoma								43	139					5.44703e-19	8.6139e-19	0.111260	1	0
ELMO1	9844	broad.mit.edu	37	7	37298872	37298872	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:37298872G>C	ENST00000310758.4	-	6	974	c.327C>G	c.(325-327)agC>agG	p.S109R	ELMO1_ENST00000442504.1_Missense_Mutation_p.S109R|ELMO1_ENST00000448602.1_Missense_Mutation_p.S109R	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	109					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.S109_L110>RI(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCCGGGAGAGGCTGGCCAAGT	0.547000													68	64					0	0	0.048971	0	0
AHSG	197	broad.mit.edu	37	3	186335082	186335082	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:186335082C>A	ENST00000411641.2	+	4	735	c.516C>A	c.(514-516)aaC>aaA	p.N172K	AHSG_ENST00000273784.5_Missense_Mutation_p.N173K			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	172	Cystatin fetuin-A-type 2.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).	acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	p.N172K(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCGCCTTCAACGCTCAGAACA	0.602000											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	133					7.41877e-09	9.21418e-09	0.062417	1	0
OR2M2	391194	broad.mit.edu	37	1	248343333	248343333	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:248343333G>T	ENST00000359682.2	+	1	46	c.46G>T	c.(46-48)Gga>Tga	p.G16*		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATCCTCCTTGGAATCTTCAA	0.438000													58	309					6.83704e-37	1.3331e-36	0.048971	1	0
ZNF680	340252	broad.mit.edu	37	7	64004155	64004155	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:64004155C>G	ENST00000309683.6	-	3	334	c.183G>C	c.(181-183)ctG>ctC	p.L61L	ZNF680_ENST00000476563.1_5'UTR|ZNF680_ENST00000447137.2_Silent_p.L61L	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L61L(2)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				AACAGGTTATCAGGTGAGGCT	0.398000													77	169					0	0	0.048971	0	0
RYR2	6262	broad.mit.edu	37	1	237540714	237540714	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:237540714C>G	ENST00000366574.2	+	8	872	c.555C>G	c.(553-555)agC>agG	p.S185R	RYR2_ENST00000542537.1_Missense_Mutation_p.S169R|RYR2_ENST00000360064.6_Missense_Mutation_p.S183R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	185	MIR 2.				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	p.S183R(2)		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)			TCTTAGTTAGCGTGTCCTCTG	0.423000													21	46					0	0	0.062417	0	0
FAM124A	220108	broad.mit.edu	37	13	51855350	51855350	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:51855350G>A	ENST00000322475.8	+	4	1734	c.1599G>A	c.(1597-1599)tcG>tcA	p.S533S	FAM124A_ENST00000280057.6_Silent_p.S569S	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	533								p.S569S(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCCCAGGGTCGGCTGGCCCCG	0.577000													43	89					0	0	0.111260	0	0
AKR1E2	83592	broad.mit.edu	37	10	4875556	4875556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:4875556C>A	ENST00000298375.7	+	3	293	c.222C>A	c.(220-222)tgC>tgA	p.C74*	AKR1E2_ENST00000532248.1_Nonsense_Mutation_p.C74*|AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000334019.4_Nonsense_Mutation_p.C74*|AKR1E2_ENST00000345253.5_Nonsense_Mutation_p.C74*	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	74						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.C74*(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						GGTGCACCTGCCATAAGAAGT	0.532000													32	140					1.7881e-09	2.27805e-09	0.037714	1	0
TAF1L	138474	broad.mit.edu	37	9	32633201	32633201	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:32633201G>T	ENST00000242310.4	-	1	2466	c.2377C>A	c.(2377-2379)Cgg>Agg	p.R793R		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	793					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R793R(2)|p.R793W(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACTAATTCCCGAATATAGTAA	0.438000													23	155					1.10513e-12	1.56154e-12	0.069288	1	0
ZIC1	7545	broad.mit.edu	37	3	147128284	147128284	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:147128284G>T	ENST00000282928.4	+	1	1114	c.385G>T	c.(385-387)Ggg>Tgg	p.G129W		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	129					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G129W(1)|p.G129R(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CGGGGGCTTCGGGGGCCCACA	0.716000													7	26					0.00621372	0.00651303	0.058154	1	0
UGT1A10	54575	broad.mit.edu	37	2	234545808	234545808	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:234545808T>A	ENST00000344644.5	+	1	709	c.640T>A	c.(640-642)Ttg>Atg	p.L214M	UGT1A10_ENST00000373445.1_Missense_Mutation_p.L214M|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1												p.L214M(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		CATCGTGCACTTGGAGGACCA	0.453000													68	311					0	0	0.048971	0	0
LIMA1	51474	broad.mit.edu	37	12	50586248	50586248	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:50586248G>A	ENST00000547825.1	-	3	1490	c.221C>T	c.(220-222)cCc>cTc	p.P74L	LIMA1_ENST00000552823.1_Missense_Mutation_p.P216L|LIMA1_ENST00000552909.1_Missense_Mutation_p.P216L|LIMA1_ENST00000394943.3_Missense_Mutation_p.P377L|LIMA1_ENST00000552491.1_Missense_Mutation_p.P74L|LIMA1_ENST00000341247.4_Missense_Mutation_p.P376L|LIMA1_ENST00000552783.1_Missense_Mutation_p.P217L|LIMA1_ENST00000552008.1_5'UTR	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	376					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.P376I(2)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CATTGCTTTGGGAGGAGAACT	0.448000													31	95					0	0	0.054565	0	0
KIT	3815	broad.mit.edu	37	4	55593452	55593452	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:55593452T>A	ENST00000288135.5	+	10	1706	c.1609T>A	c.(1609-1611)Tgc>Agc	p.C537S		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	537					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	p.C537S(2)		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)	TGGCATGATGTGCATTATTGT	0.383000		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				44	182					0	0	0.045515	0	0
GFAP	2670	broad.mit.edu	37	17	42988648	42988648	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:42988648G>T	ENST00000253408.5	-	6	1148	c.1083C>A	c.(1081-1083)atC>atA	p.I361I	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.I361I|GFAP_ENST00000435360.2_Silent_p.I361I	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	361	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.I361I(4)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGCGATCTCGATGTCCAGGG	0.632000													54	80					1.0442e-30	1.94536e-30	0.048971	1	0
IL3RA	3563	broad.mit.edu	37	X	1460672	1460672	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:1460672G>T	ENST00000331035.4	+	2	363	c.14G>T	c.(13-15)tGg>tTg	p.W5L	IL3RA_ENST00000381469.2_Missense_Mutation_p.W5L	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	5						integral to membrane|plasma membrane	interleukin-3 receptor activity	p.W5L(2)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTCCTCCTTTGGCTCACGCTG	0.607000													28	102					1.5548e-18	2.4375e-18	0.108266	1	0
TET1	80312	broad.mit.edu	37	10	70405010	70405010	+	Missense_Mutation	SNP	A	A	G	rs77500190		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:70405010A>G	ENST00000373644.4	+	4	2733	c.2524A>G	c.(2524-2526)Atc>Gtc	p.I842V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	842					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.I842V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTCACACTCCATCATAAATCA	0.398000													40	170					0	0	0.080422	0	0
CCDC136	64753	broad.mit.edu	37	7	128452070	128452070	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:128452070G>T	ENST00000297788.4	+	13	2612	c.2245G>T	c.(2245-2247)Ggt>Tgt	p.G749C	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	749						integral to membrane	protein binding	p.G749F(4)|p.G749S(2)|p.G865F(2)|p.G865S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAAGAGCTATGGTAGCATGGT	0.498000													84	64					6.85908e-49	1.39229e-48	0.048971	1	0
PZP	5858	broad.mit.edu	37	12	9301592	9301592	+	Splice_Site	SNP	T	T	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:9301592T>G	ENST00000261336.2	-	36	4455		c.e36-2		PZP_ENST00000381997.2_Splice_Site	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.?(4)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GCTCTGTATCTATGGAGAAAA	0.413000													23	49					0	0	0.076483	0	0
FRG1	2483	broad.mit.edu	37	4	190876250	190876250	+	Missense_Mutation	SNP	G	G	T	rs146824996	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:190876250G>T	ENST00000226798.4	+	5	598	c.376G>T	c.(376-378)Gtt>Ttt	p.V126F	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	126					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.V126F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGGACTTGTTGTTGGGCGTTC	0.353000													11	168					0.00010058	0.00010965	0.093190	1	0
FGD6	55785	broad.mit.edu	37	12	95602937	95602937	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:95602937C>A	ENST00000343958.4	-	2	2346	c.2123G>T	c.(2122-2124)cGg>cTg	p.R708L	FGD6_ENST00000549499.1_Missense_Mutation_p.R708L|FGD6_ENST00000546711.1_Missense_Mutation_p.R708L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	708					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.R708L(2)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGTCTGGCCCCGAGACTTCTT	0.478000													54	118					1.72184e-34	3.28659e-34	0.048971	1	0
ACAP3	116983	broad.mit.edu	37	1	1237396	1237396	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:1237396G>A	ENST00000354700.5	-	5	512	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	ACAP3_ENST00000353662.3_Missense_Mutation_p.R62W	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	104					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AGCTGCTGCCGCACGGACCTC	0.647000													7	67					0	0	0.069234	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407380	105407380	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:105407380G>C	ENST00000333244.5	-	7	14527	c.14408C>G	c.(14407-14409)gCc>gGc	p.A4803G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4803						nucleus		p.A4803G(2)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGGGCCAAGGCAGCTCTGGG	0.517000													20	55					0	0	0.049695	0	0
NLRP14	338323	broad.mit.edu	37	11	7064372	7064372	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:7064372G>T	ENST00000299481.4	+	4	1461	c.1115G>T	c.(1114-1116)tGc>tTc	p.C372F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	372	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.C372F(2)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCCCTAGTGTGCTGGGCCGCT	0.443000													30	189					1.13719e-10	1.53127e-10	0.037714	1	0
ZNF135	7694	broad.mit.edu	37	19	58579730	58579730	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:58579730G>A	ENST00000506786.1	+	5	2306	c.1752G>A	c.(1750-1752)agG>agA	p.R584R	ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Silent_p.R626R|ZNF135_ENST00000511556.1_Silent_p.R638R|ZNF135_ENST00000439855.2_Silent_p.R626R|ZNF135_ENST00000401053.4_Silent_p.R650R			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	638					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R650K(2)|p.R626K(2)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGCACCGGAGGATCCACACAG	0.542000													17	84					0	0	0.038395	0	0
DST	667	broad.mit.edu	37	6	56516040	56516040	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:56516040G>A	ENST00000370754.5	-	10	1117	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L	DST_ENST00000370769.4_Missense_Mutation_p.P195L|DST_ENST00000370788.2_Missense_Mutation_p.P195L|DST_ENST00000421834.2_Missense_Mutation_p.P195L|DST_ENST00000361203.3_Missense_Mutation_p.P195L|DST_ENST00000312431.6_Missense_Mutation_p.P195L			Q03001	DYST_HUMAN	dystonin	195					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.P195M(2)|p.P373M(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATCAGGTCCGGCCTAGGAAA	0.328000													6	14					0	0	0.038147	0	0
USH2A	7399	broad.mit.edu	37	1	216369952	216369952	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:216369952G>T	ENST00000366943.2	-	19	4580	c.4194C>A	c.(4192-4194)gaC>gaA	p.D1398E	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.D1398E|USH2A_ENST00000307340.3_Missense_Mutation_p.D1398E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1398	Fibronectin type-III 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D1398E(2)		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)		GCATATTGATGTCATACCCCA	0.413000										HNSCC(13;0.011)			52	93					2.01807e-28	3.6232e-28	0.048971	1	0
WDR7	23335	broad.mit.edu	37	18	54694337	54694337	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:54694337G>T	ENST00000254442.3	+	28	4583	c.4372G>T	c.(4372-4374)Ggc>Tgc	p.G1458C	WDR7_ENST00000357574.3_Missense_Mutation_p.G1425C|WDR7_ENST00000589935.1_Missense_Mutation_p.G35C	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1458								p.G1458C(2)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CGCGTCCCCCGGCTCCCACAA	0.617000													17	90					3.57192e-18	5.5837e-18	0.038395	1	0
C2orf71	388939	broad.mit.edu	37	2	29295827	29295827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:29295827C>A	ENST00000331664.5	-	1	1300	c.1301G>T	c.(1300-1302)tGc>tTc	p.C434F		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	434					response to stimulus|visual perception	photoreceptor outer segment		p.C434F(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACTGGAGAGGCATGGGCTCCT	0.567000													61	97					2.93687e-30	5.43421e-30	0.048971	1	0
PRKCB	5579	broad.mit.edu	37	16	24166178	24166178	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:24166178G>T	ENST00000303531.7	+	10	1391	c.1239_splice	c.e10+1	p.M413_splice	PRKCB_ENST00000321728.7_Splice_Site_p.M413_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	413	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.M413N(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCCAGACCATGGTAACTTGTC	0.582000													23	21					6.44725e-10	8.31115e-10	0.069288	1	0
SPATA5	166378	broad.mit.edu	37	4	123868550	123868550	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:123868550C>T	ENST00000274008.3	+	9	1690	c.1621C>T	c.(1621-1623)Ccc>Tcc	p.P541S	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	541					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	p.P541S(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCGAAGGGTACCCCATTTGCT	0.493000													33	122					0	0	0.045705	0	0
OPRM1	4988	broad.mit.edu	37	6	154411267	154411267	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:154411267C>A	ENST00000414028.2	+	2	647	c.597C>A	c.(595-597)gcC>gcA	p.A199A	OPRM1_ENST00000452687.2_Silent_p.A199A|OPRM1_ENST00000520708.1_Silent_p.A99A|OPRM1_ENST00000419506.2_Silent_p.A199A|OPRM1_ENST00000522555.1_Silent_p.A99A|OPRM1_ENST00000360422.4_Silent_p.A199A|OPRM1_ENST00000337049.4_Silent_p.A199A|OPRM1_ENST00000229768.5_Silent_p.A199A|OPRM1_ENST00000434900.2_Silent_p.A292A|OPRM1_ENST00000524163.1_Silent_p.A199A|OPRM1_ENST00000428397.2_Silent_p.A199A|OPRM1_ENST00000522236.1_Silent_p.A99A|OPRM1_ENST00000518759.1_Silent_p.A118A|OPRM1_ENST00000330432.7_Silent_p.A199A|OPRM1_ENST00000435918.2_Silent_p.A199A	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	199					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.A199A(4)|p.A292A(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCTCTTCAGCCATTGGTCTTC	0.468000													46	71					1.02687e-29	1.88086e-29	0.045515	1	0
NCLN	56926	broad.mit.edu	37	19	3204605	3204605	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:3204605C>T	ENST00000246117.4	+	9	1495	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	NCLN_ENST00000590671.1_Missense_Mutation_p.S281F	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	355					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding	p.S355F(1)		kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GTACGGTTCTCCATGGTGCAC	0.687000													10	62					0	0	0.093190	0	0
KRT82	3888	broad.mit.edu	37	12	52788890	52788890	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:52788890C>A	ENST00000257974.2	-	9	1488	c.1411G>T	c.(1411-1413)Ggc>Tgc	p.G471C	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	471	Tail.					keratin filament	protein binding|structural constituent of epidermis	p.G471C(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		ATGCTGCAGCCCCCATTGCTC	0.632000													9	75					0.000673444	0.000711366	0.069234	1	0
SNPH	9751	broad.mit.edu	37	20	1286120	1286120	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr20:1286120G>T	ENST00000381867.1	+	7	1681	c.1039G>T	c.(1039-1041)Ggt>Tgt	p.G347C	SNPH_ENST00000381873.3_Missense_Mutation_p.G303C			O15079	SNPH_HUMAN	syntaphilin	303					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	p.G303C(2)|p.G347C(2)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CATGGAGGCTGGTGTGCAGGC	0.627000													39	97					4.29476e-34	8.16906e-34	0.048971	1	0
KCNK3	3777	broad.mit.edu	37	2	26950707	26950707	+	Silent	SNP	C	C	T	rs112956865		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:26950707C>T	ENST00000302909.3	+	2	581	c.456C>T	c.(454-456)gcC>gcT	p.A152A		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	152					synaptic transmission	integral to plasma membrane		p.A152A(1)		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGGCGCGCCGACGTGTCCA	0.647000													11	99					0	0	0.093190	0	0
NLRP1	22861	broad.mit.edu	37	17	5462598	5462598	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:5462598G>A	ENST00000345221.3	-	4	1972	c.1418C>T	c.(1417-1419)gCa>gTa	p.A473V	NLRP1_ENST00000262467.5_Missense_Mutation_p.A473V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A473V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A473V|NLRP1_ENST00000572272.1_Missense_Mutation_p.A473V|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.A473V	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	473	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.A473V(6)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TACCCAACGTGCCTGCTCCAA	0.502000													8	31					0	0	0.047766	0	0
TIMD4	91937	broad.mit.edu	37	5	156376676	156376676	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:156376676A>C	ENST00000274532.2	-	4	802	c.746T>G	c.(745-747)cTg>cGg	p.L249R	TIMD4_ENST00000407087.3_Missense_Mutation_p.L249R	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	249	Ser-rich.					integral to membrane		p.L249R(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGATGTCAGCAGGACAGTGTC	0.458000													12	79					0	0	0.105934	0	0
PRDM14	63978	broad.mit.edu	37	8	70981463	70981463	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:70981463G>T	ENST00000276594.2	-	2	834	c.633C>A	c.(631-633)ccC>ccA	p.P211P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P211P(2)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCTCCAGGCTGGGAGTGACCC	0.592000													47	110					1.47857e-17	2.27859e-17	0.048971	1	0
ACSL6	23305	broad.mit.edu	37	5	131323839	131323839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:131323839C>A	ENST00000379264.2	-	7	841	c.733G>T	c.(733-735)Ggc>Tgc	p.G245C	ACSL6_ENST00000379249.3_Missense_Mutation_p.G220C|ACSL6_ENST00000379244.1_Missense_Mutation_p.G220C|ACSL6_ENST00000431707.1_Missense_Mutation_p.G200C|ACSL6_ENST00000379240.1_Missense_Mutation_p.G220C|ACSL6_ENST00000544770.1_Missense_Mutation_p.G129C|ACSL6_ENST00000379255.1_Missense_Mutation_p.G185C|ACSL6_ENST00000543479.1_Missense_Mutation_p.G220C|ACSL6_ENST00000379246.1_Missense_Mutation_p.G231C|ACSL6_ENST00000379272.2_Missense_Mutation_p.G235C|ACSL6_ENST00000296869.4_Missense_Mutation_p.G245C|ACSL6_ENST00000357096.1_Missense_Mutation_p.G185C	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	220					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G245F(4)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCTTGAGGCCTGGAGTCTCC	0.562000													156	245					2.37545e-86	5.10768e-86	0.048971	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103229014	103229014	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:103229014G>T	ENST00000375735.2	+	83	12227	c.12083G>T	c.(12082-12084)gGt>gTt	p.G4028V	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G4035V	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4028					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.G1468V(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATAACAGCTGGTTCCAAATTT	0.353000													9	8					6.40141e-05	7.04933e-05	0.080935	1	0
MDGA2	161357	broad.mit.edu	37	14	47530541	47530541	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:47530541G>T	ENST00000426342.1	-	7	1288	c.542C>A	c.(541-543)aCg>aAg	p.T181K	MDGA2_ENST00000439988.2_Missense_Mutation_p.T410K|MDGA2_ENST00000357362.3_Missense_Mutation_p.T181K|MDGA2_ENST00000399232.2_Missense_Mutation_p.T479K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	410	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.T181K(4)|p.T479K(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCAAAATCCGTGAATTTTAA	0.428000													68	90					7.59065e-32	1.43379e-31	0.048971	1	0
PARVG	64098	broad.mit.edu	37	22	44581730	44581730	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:44581730C>A	ENST00000422871.1	+	4	546	c.122C>A	c.(121-123)cCc>cAc	p.P41H	PARVG_ENST00000444313.2_Missense_Mutation_p.P41H|PARVG_ENST00000415224.1_Missense_Mutation_p.P41H|PARVG_ENST00000453888.3_3'UTR	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	41					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P41H(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CGGAAGGACCCCAAATTTGAA	0.612000													8	31					0.000157383	0.000170212	0.038147	1	0
HTR1A	3350	broad.mit.edu	37	5	63257347	63257347	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:63257347A>T	ENST00000323865.3	-	1	433	c.200T>A	c.(199-201)cTg>cAg	p.L67Q	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	67					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.L67Q(2)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CACGTTCTGCAGGGAGCGCTC	0.602000													20	31					0	0	0.055883	0	0
OR4D2	124538	broad.mit.edu	37	17	56247058	56247058	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:56247058C>A	ENST00000545221.1	+	1	42	c.42C>A	c.(40-42)ttC>ttA	p.F14L		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F14L(2)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACTTTGTCTTCCTGGGGCTCT	0.458000													22	154					1.87028e-06	2.16016e-06	0.062417	1	0
PILRB	29990	broad.mit.edu	37	7	99956501	99956501	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:99956501A>T	ENST00000310771.4	+	16	2749	c.253A>T	c.(253-255)Agg>Tgg	p.R85W	PILRB_ENST00000444073.1_Missense_Mutation_p.R85W|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000444874.1_Intron|PILRB_ENST00000452089.1_Missense_Mutation_p.R85W			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	85	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	p.R85W(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTACAGCACAAGGCCGCCTTC	0.547000													5	169					0	0	0.038147	0	0
GNRHR	2798	broad.mit.edu	37	4	68619638	68619638	+	Missense_Mutation	SNP	C	C	T	rs104893842		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:68619638C>T	ENST00000226413.4	-	1	440	c.416G>A	c.(415-417)cGc>cAc	p.R139H	GNRHR_ENST00000420975.2_Missense_Mutation_p.R139H|RP11-453E17.1_ENST00000502758.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	139			R -> H (in IHH; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro).		multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	p.R139H(2)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	AGCCAGGGAGCGGTCCAGGCT	0.512000													14	79					0	0	0.024245	0	0
CLEC1A	51267	broad.mit.edu	37	12	10226002	10226002	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:10226002G>T	ENST00000315330.4	-	5	614	c.552C>A	c.(550-552)gcC>gcA	p.A184A	CLEC1A_ENST00000457018.2_Silent_p.A151A|CLEC1A_ENST00000420265.2_Silent_p.A92A	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	184	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	p.A184A(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TCTGAGACGCGGCAAATTCCT	0.483000													16	90					0.0285812	0.0297288	0.028581	1	0
SPAG16	79582	broad.mit.edu	37	2	214162030	214162030	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:214162030G>T	ENST00000374309.3	+	2	65	c.65G>T	c.(64-66)tGg>tTg	p.W22L	SPAG16_ENST00000447990.1_Silent_p.L76L|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000432529.2_Silent_p.L76L|SPAG16_ENST00000331683.5_Silent_p.L76L|SPAG16_ENST00000413312.1_Silent_p.L45L|SPAG16_ENST00000272898.7_Silent_p.L76L			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	0					cilium assembly	cilium axoneme|flagellar axoneme		p.L76L(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AAGAAGATCTGGCAAAAGCAA	0.373000													8	67					1.12685e-05	1.27444e-05	0.047766	1	0
EP400	57634	broad.mit.edu	37	12	132446343	132446343	+	Missense_Mutation	SNP	G	G	C	rs141437491		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:132446343G>C	ENST00000333577.4	+	2	1288	c.1179G>C	c.(1177-1179)ttG>ttC	p.L393F	EP400_ENST00000330386.6_Missense_Mutation_p.L393F|EP400_ENST00000332482.4_Missense_Mutation_p.L393F|EP400_ENST00000389562.2_Missense_Mutation_p.L393F|EP400_ENST00000389561.2_Missense_Mutation_p.L393F			Q96L91	EP400_HUMAN	E1A binding protein p400	393					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.L393F(2)		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)		TGTTTTTCTTGCAACACTTTC	0.413000													24	115					0	0	0.083992	0	0
PPM1H	57460	broad.mit.edu	37	12	63083523	63083523	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:63083523C>A	ENST00000228705.6	-	8	1501	c.1201G>T	c.(1201-1203)Gac>Tac	p.D401Y	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	401	PP2C-like.						phosphoprotein phosphatase activity	p.D401Y(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		ATGTTGGAGTCATGCACCTTC	0.458000													9	30					0.000978159	0.00103124	0.080935	1	0
RASA3	22821	broad.mit.edu	37	13	114778667	114778667	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:114778667G>T	ENST00000334062.7	-	15	1584	c.1463C>A	c.(1462-1464)gCg>gAg	p.A488E	RASA3_ENST00000389544.4_Missense_Mutation_p.A456E	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	488	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	p.A488E(2)|p.A488V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AATGGCGGGCGCAAAGAACCT	0.617000													13	15					4.7546e-09	5.94599e-09	0.028581	1	0
LOC440040	440040	broad.mit.edu	37	11	49597720	49597720	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:49597720C>A	ENST00000527477.1	+	0	324																											CGCAGGACATCGCTTGTTCGT	0.438000													11	19					2.80697e-09	3.54291e-09	0.080935	1	0
MUC17	140453	broad.mit.edu	37	7	100663463	100663463	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:100663463T>A	ENST00000306151.4	+	1	111	c.47T>A	c.(46-48)cTc>cAc	p.L16H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	16						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.L16H(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTTGGTCCTCTCGCTCTTG	0.652000													56	37					0	0	0.048971	0	0
OR5F1	338674	broad.mit.edu	37	11	55761855	55761855	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:55761855C>G	ENST00000278409.1	-	1	246	c.247G>C	c.(247-249)Gca>Cca	p.A83P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A83P(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AATAAATCTGCCAGCATCTTT	0.458000													9	98					0	0	0.069234	0	0
SPTA1	6708	broad.mit.edu	37	1	158617395	158617395	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:158617395C>A	ENST00000368148.3	-	27	4010	c.3830G>T	c.(3829-3831)cGt>cTt	p.R1277L	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1277L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1277					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1277L(2)|p.R1277H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCTTTGTACGCCCCTGCAG	0.557000													34	176					1.45844e-13	2.1157e-13	0.054565	1	0
KCNA2	3737	broad.mit.edu	37	1	111146880	111146880	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:111146880G>T	ENST00000485317.1	-	3	1198	c.525C>A	c.(523-525)atC>atA	p.I175I	KCNA2_ENST00000440270.1_Silent_p.I175I|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Silent_p.I175I|KCNA2_ENST00000369770.3_Silent_p.I175I			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	175						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.I175I(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TGACAATTGAGATCAGAATCA	0.463000													58	74					4.96213e-28	8.82157e-28	0.048971	1	0
KIF21B	23046	broad.mit.edu	37	1	200978567	200978567	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:200978567T>A	ENST00000332129.2	-	2	407	c.91A>T	c.(91-93)Acc>Tcc	p.T31S	KIF21B_ENST00000461742.2_Missense_Mutation_p.T31S|KIF21B_ENST00000360529.5_Missense_Mutation_p.T31S|KIF21B_ENST00000422435.2_Missense_Mutation_p.T31S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	31	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.T31S(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTAACAGAGGTACAGATGTGA	0.592000													50	115					0	0	0.048971	0	0
ANK3	288	broad.mit.edu	37	10	61894041	61894041	+	Silent	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:61894041T>A	ENST00000280772.1	-	25	3020	c.2829A>T	c.(2827-2829)ccA>ccT	p.P943P	ANK3_ENST00000355288.2_Silent_p.P77P|ANK3_ENST00000503366.1_Silent_p.P944P|ANK3_ENST00000373827.2_Silent_p.P937P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	943					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.P578P(2)|p.P77P(2)|p.P943P(2)		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						GCTCTTTGGATGGCACAAGGA	0.398000													18	35					0	0	0.043863	0	0
NRXN1	9378	broad.mit.edu	37	2	50765580	50765580	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:50765580G>T	ENST00000404971.1	-	11	3413	c.2074C>A	c.(2074-2076)Caa>Aaa	p.Q692K	NRXN1_ENST00000401669.2_Missense_Mutation_p.Q652K|NRXN1_ENST00000402717.3_Missense_Mutation_p.Q644K|NRXN1_ENST00000406859.3_Missense_Mutation_p.Q652K|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.Q652K|NRXN1_ENST00000405472.3_Missense_Mutation_p.Q644K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	652	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.Q693K(2)|p.Q652K(2)|p.Q692K(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTTGCTTTGGCCATCGATG	0.507000													128	261					1.31875e-47	2.66692e-47	0.048971	1	0
NPAP1	23742	broad.mit.edu	37	15	24922175	24922175	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr15:24922175G>T	ENST00000329468.2	+	1	1635	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.E387D(2)									ATAAAACAGAGACCATGACAA	0.527000													13	39					0.00010058	0.00010965	0.093190	1	0
LPHN3	23284	broad.mit.edu	37	4	62845321	62845321	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:62845321C>T	ENST00000512091.1	+	17	3389	c.2642C>T	c.(2641-2643)aCg>aTg	p.T881M	LPHN3_ENST00000508693.1_Missense_Mutation_p.T949M|LPHN3_ENST00000511324.1_Missense_Mutation_p.T949M|LPHN3_ENST00000506720.1_Missense_Mutation_p.T949M|LPHN3_ENST00000506700.1_Missense_Mutation_p.T881M|LPHN3_ENST00000514157.1_Missense_Mutation_p.T881M|LPHN3_ENST00000514996.1_Missense_Mutation_p.T881M|LPHN3_ENST00000506746.1_Missense_Mutation_p.T949M|LPHN3_ENST00000509896.1_Missense_Mutation_p.T949M|LPHN3_ENST00000514591.1_Missense_Mutation_p.T881M|LPHN3_ENST00000545650.1_Missense_Mutation_p.T881M|LPHN3_ENST00000507625.1_Missense_Mutation_p.T949M|LPHN3_ENST00000507164.1_Missense_Mutation_p.T949M|LPHN3_ENST00000504896.1_Missense_Mutation_p.T881M|LPHN3_ENST00000508946.1_Missense_Mutation_p.T881M			Q9HAR2	LPHN3_HUMAN	latrophilin 3	868					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.T881M(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATGTGATCACGTGGGTTGGA	0.448000													108	320					0	0	0.048971	0	0
MOCOS	55034	broad.mit.edu	37	18	33793329	33793329	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:33793329G>T	ENST00000261326.5	+	7	1240	c.1218_splice	c.e7-1	p.V407_splice		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	407					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	p.V407L(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AAATCCGCAGGTGGACAAAAT	0.463000													10	51					9.70103e-10	1.23882e-09	0.069234	1	0
LAMC3	10319	broad.mit.edu	37	9	133932444	133932444	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:133932444G>T	ENST00000361069.4	+	12	2201	c.2068G>T	c.(2068-2070)Gga>Tga	p.G690*	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	690	Laminin EGF-like 5; second part.				cell adhesion	basement membrane|membrane	structural molecule activity	p.G690*(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTGTGCTCCGGGATACAAGAG	0.617000													68	158					2.32817e-41	4.62235e-41	0.048971	1	0
GRID2	2895	broad.mit.edu	37	4	94693324	94693324	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:94693324T>C	ENST00000282020.4	+	16	2957	c.2699T>C	c.(2698-2700)aTt>aCt	p.I900T	GRID2_ENST00000510992.1_Missense_Mutation_p.I805T	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	900					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.I900T(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACCTCGTCAATTGATTTGACC	0.453000													59	108					0	0	0.048971	0	0
KDR	3791	broad.mit.edu	37	4	55979649	55979649	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:55979649C>A	ENST00000263923.4	-	7	1094		c.e7-1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.?(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TATGCTGATGCTGAAAAAAAG	0.373000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			22	63					1.87028e-06	2.16016e-06	0.062417	1	0
TLR4	7099	broad.mit.edu	37	9	120476354	120476354	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:120476354C>T	ENST00000355622.6	+	3	2049	c.1948C>T	c.(1948-1950)Ctg>Ttg	p.L650L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L610L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	650					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.L650L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGTAGCAGTTCTGGTCTATAA	0.428000													20	37					0	0	0.043863	0	0
TTN	7273	broad.mit.edu	37	2	179542347	179542347	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:179542347C>A	ENST00000589042.1	-	146	34516		c.e146+1		TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(2)		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)			AGCTGCTATACCTGGTGCAGG	0.418000													18	36					3.41278e-10	4.47362e-10	0.033300	1	0
EPPK1	83481	broad.mit.edu	37	8	144942384	144942384	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:144942384G>A	ENST00000525985.1	-	2	5109	c.5038C>T	c.(5038-5040)Ctg>Ttg	p.L1680L				P58107	EPIPL_HUMAN	epiplakin 1	1680						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.L1680L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTCCAGCAGGCGGATGCCG	0.687000													24	110					0	0	0.076483	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999276	112999276	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:112999276G>T	ENST00000271277.6	+	6	1387	c.1162G>T	c.(1162-1164)Gag>Tag	p.E388*		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	388						actin cytoskeleton	protein binding	p.E388*(2)|p.E388K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAACCAGTGGAGAATGGTGG	0.552000													116	182					3.69185e-53	7.63638e-53	0.048971	1	0
TTC14	151613	broad.mit.edu	37	3	180327803	180327803	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:180327803G>T	ENST00000296015.4	+	12	1918	c.1786G>T	c.(1786-1788)Gat>Tat	p.D596Y	TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	596							RNA binding	p.D596Y(2)|p.D596N(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TAGGTCTGAAGATCCAAGAGA	0.353000													62	363					2.81305e-35	5.40742e-35	0.048971	1	0
CTNNA3	29119	broad.mit.edu	37	10	67726505	67726505	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:67726505C>A	ENST00000433211.1	-	17	2440		c.e17-1		CTNNA3_ENST00000373735.1_Splice_Site|CTNNA3_ENST00000373744.4_Splice_Site	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.?(4)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GATCTGGGCACTAAATATGAA	0.363000													18	66					1.99824e-07	2.3891e-07	0.033300	1	0
ZNF135	7694	broad.mit.edu	37	19	58579729	58579729	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:58579729G>A	ENST00000506786.1	+	5	2305	c.1751G>A	c.(1750-1752)aGg>aAg	p.R584K	ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Missense_Mutation_p.R626K|ZNF135_ENST00000511556.1_Missense_Mutation_p.R638K|ZNF135_ENST00000439855.2_Missense_Mutation_p.R626K|ZNF135_ENST00000401053.4_Missense_Mutation_p.R650K			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	638					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R650K(2)|p.R626K(2)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAGCACCGGAGGATCCACACA	0.547000													20	87					0	0	0.049695	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418194	38418194	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:38418194G>C	ENST00000322350.5	+	12	1867	c.1521G>C	c.(1519-1521)cgG>cgC	p.R507R	EGFLAM_ENST00000354891.3_Silent_p.R507R|EGFLAM_ENST00000336740.6_Silent_p.R273R|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	507	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.R507L(4)		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)					TTACTTTCCGGACACCTCTCT	0.453000													40	148					0	0	0.104719	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813237	176813237	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:176813237C>A	ENST00000324417.5	+	4	366	c.275C>A	c.(274-276)cCc>cAc	p.P92H	SLC34A1_ENST00000512593.1_Missense_Mutation_p.P92H	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	92					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.P92H(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			AGGCTGGTCCCCAAGCTGCGC	0.662000													63	102					3.13296e-38	6.17511e-38	0.048971	1	0
GSN	2934	broad.mit.edu	37	9	124088797	124088797	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:124088797T>C	ENST00000373823.3	+	20	2329	c.1424T>C	c.(1423-1425)gTg>gCg	p.V475A	GSN_ENST00000394353.2_Missense_Mutation_p.V486A|GSN_ENST00000412819.1_Missense_Mutation_p.V475A|GSN_ENST00000341272.2_Missense_Mutation_p.V475A|GSN_ENST00000373818.4_Missense_Mutation_p.V526A|GSN_ENST00000436847.1_Missense_Mutation_p.V486A|GSN_ENST00000449733.1_Missense_Mutation_p.V475A|GSN_ENST00000545652.1_Missense_Mutation_p.V483A|GSN_ENST00000373808.2_Missense_Mutation_p.V475A|GSN_ENST00000373807.1_Missense_Mutation_p.V257A			P06396	GELS_HUMAN	gelsolin	526	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	p.V526A(2)|p.V475A(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CAGAGCCGTGTGGTCCAAGGC	0.637000													8	62					0	0	0.047766	0	0
OR10T2	128360	broad.mit.edu	37	1	158368914	158368914	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:158368914G>T	ENST00000334438.1	-	1	342	c.343C>A	c.(343-345)Ctc>Atc	p.L115I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L115I(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ACAGCAATGAGGAGGCAGTTG	0.498000													16	139					0.000566183	0.00060157	0.033300	1	0
OLFM2	93145	broad.mit.edu	37	19	9967991	9967991	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:9967991C>T	ENST00000264833.4	-	4	713	c.528G>A	c.(526-528)caG>caA	p.Q176Q	OLFM2_ENST00000590841.1_Silent_p.Q98Q	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	176						extracellular region		p.Q176Q(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCACCCGTTGCTGCAGGTCCT	0.647000													37	100					0	0	0.092188	0	0
SLC12A8	84561	broad.mit.edu	37	3	124802813	124802813	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:124802813T>A	ENST00000423114.2	-	14	2152	c.2153A>T	c.(2152-2154)gAg>gTg	p.E718V	SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000430155.2_Missense_Mutation_p.E490V|SLC12A8_ENST00000469902.1_Missense_Mutation_p.E689V|SLC12A8_ENST00000314584.7_Missense_Mutation_p.E350V|SLC12A8_ENST00000393469.4_Missense_Mutation_p.E689V			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	689					potassium ion transport	integral to membrane	symporter activity	p.E727V(2)|p.E689V(2)		endometrium(2)|kidney(2)|lung(12)	16						GTCTGCATTCTCCTGGGTGAG	0.587000													15	33					0	0	0.024245	0	0
ZNF621	285268	broad.mit.edu	37	3	40573808	40573808	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:40573808G>C	ENST00000339296.5	+	5	999	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.E183Q|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.E72Q	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E183Q(2)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TAAGTGTAAGGAGTGTGGCAA	0.403000													35	64					0	0	0.064281	0	0
OR52N5	390075	broad.mit.edu	37	11	5799229	5799229	+	Silent	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:5799229A>T	ENST00000317093.2	-	1	668	c.636T>A	c.(634-636)gcT>gcA	p.A212A	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A212A(2)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CAATCAGGAGAGCAACCATTA	0.428000													13	125					0	0	0.093190	0	0
FGF10	2255	broad.mit.edu	37	5	44305247	44305247	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:44305247A>T	ENST00000264664.4	-	3	591	c.477T>A	c.(475-477)aaT>aaA	p.N159K		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	159					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	p.N159K(2)		haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TATTGTATCCATTTTCCTCTA	0.378000													56	146					0	0	0.048971	0	0
DHRS11	79154	broad.mit.edu	37	17	34951468	34951468	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:34951468C>T	ENST00000251312.5	+	2	427	c.215C>T	c.(214-216)tCa>tTa	p.S72L	DHRS11_ENST00000590554.1_5'UTR|DHRS11_ENST00000394445.1_3'UTR	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	72						extracellular region	binding|oxidoreductase activity	p.S72L(2)		endometrium(1)|lung(4)	5						TGTGACCTATCAAATGAAGAG	0.537000													21	128					0	0	0.055883	0	0
NFIC	4782	broad.mit.edu	37	19	3452610	3452610	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:3452610G>T	ENST00000589123.1	+	8	1308	c.1188G>T	c.(1186-1188)ccG>ccT	p.P396P	NFIC_ENST00000346156.5_Silent_p.P372P|NFIC_ENST00000443272.2_Silent_p.P405P|NFIC_ENST00000341919.3_Silent_p.P405P|NFIC_ENST00000586919.1_Silent_p.P372P|NFIC_ENST00000590282.1_Silent_p.P405P|NFIC_ENST00000395111.3_Silent_p.P396P	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	405					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P396P(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CCCAGGACCCGCTCAAAGATC	0.652000													34	206					1.30091e-30	2.41534e-30	0.092188	1	0
IFNL3	282617	broad.mit.edu	37	19	39734774	39734774	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:39734774C>G	ENST00000413851.2	-	3	320	c.282G>C	c.(280-282)ttG>ttC	p.L94F		NM_172139.2	NP_742151.2			interferon, lambda 3									p.L94F(2)									GCTCAGCCTCCAAAGCCACGG	0.637000													16	49					0	0	0.024245	0	0
GCN1L1	10985	broad.mit.edu	37	12	120614022	120614022	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:120614022T>A	ENST00000300648.6	-	10	851		c.e10-2			NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)						regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.?(2)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGAAATAGCTAAGGGGGACA	0.502000													44	79					0	0	0.042209	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650791	121650791	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:121650791C>G	ENST00000393386.2	+	12	2102	c.1691C>G	c.(1690-1692)tCt>tGt	p.S564C	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S564C	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	564					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.S564C(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATACAGTTTCTATAACAGAA	0.423000													59	36					0	0	0.048971	0	0
GRM5	2915	broad.mit.edu	37	11	88337916	88337916	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:88337916A>G	ENST00000418177.2	-	5	1731	c.1364T>C	c.(1363-1365)cTa>cCa	p.L455P	GRM5_ENST00000455756.2_Missense_Mutation_p.L455P|GRM5_ENST00000393297.1_Missense_Mutation_p.L455P|GRM5_ENST00000305447.4_Missense_Mutation_p.L455P|GRM5_ENST00000305432.5_Missense_Mutation_p.L455P			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	455					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.L455P(4)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTCATCGAATAGGATCGTATC	0.433000													33	51					0	0	0.050027	0	0
GATA4	2626	broad.mit.edu	37	8	11607724	11607724	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:11607724C>G	ENST00000335135.4	+	4	1446	c.888C>G	c.(886-888)ggC>ggG	p.G296G	GATA4_ENST00000528712.1_Silent_p.G90G|GATA4_ENST00000532059.1_Silent_p.G297G	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	296			G -> S (in ASD2).		atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.G296G(2)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		ATGCCTGCGGCCTCTACATGA	0.637000													34	58					0	0	0.064281	0	0
AKR1C3	8644	broad.mit.edu	37	10	5141584	5141584	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:5141584G>T	ENST00000380554.3	+	5	1165	c.513G>T	c.(511-513)agG>agT	p.R171S	AKR1C3_ENST00000605149.1_Missense_Mutation_p.R148S|AKR1C3_ENST00000439082.2_Missense_Mutation_p.R52S	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	171					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.R171S(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TCAACCGCAGGCAGCTGGAGA	0.527000													29	74					7.38237e-10	9.47172e-10	0.030593	1	0
CSMD1	64478	broad.mit.edu	37	8	2876097	2876097	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:2876097G>C	ENST00000602557.1	-	53	8489	c.7934C>G	c.(7933-7935)gCt>gGt	p.A2645G	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.A2644G|CSMD1_ENST00000520002.1_Missense_Mutation_p.A2645G|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000400186.3_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2645	Sushi 17.					integral to membrane		p.A2644G(2)|p.A2373G(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGTAAATATAGCTGTGGCCCC	0.483000													42	239					0	0	0.048971	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432903	104432903	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:104432903G>T	ENST00000361820.3	-	3	2391	c.1791C>A	c.(1789-1791)ctC>ctA	p.L597L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	597					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.L597L(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTACAATATAGAGGTCGAAGT	0.453000													14	85					9.05144e-12	1.25612e-11	0.105934	1	0
SCN3A	6328	broad.mit.edu	37	2	165984466	165984466	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:165984466C>A	ENST00000360093.3	-	18	3559	c.3068G>T	c.(3067-3069)cGg>cTg	p.R1023L	SCN3A_ENST00000283254.7_Missense_Mutation_p.R1023L|SCN3A_ENST00000409101.3_Missense_Mutation_p.R974L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1023						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1023L(2)|p.R974L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GAAACACTCCCGCATCTTATT	0.358000													29	79					1.32181e-22	2.20572e-22	0.034045	1	0
DIAPH3	81624	broad.mit.edu	37	13	60490351	60490351	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:60490351C>A	ENST00000400324.4	-	19	2423	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*	DIAPH3_ENST00000400319.1_Nonsense_Mutation_p.E665*|DIAPH3_ENST00000400320.1_Nonsense_Mutation_p.E689*|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Nonsense_Mutation_p.E724*|DIAPH3_ENST00000267215.4_Nonsense_Mutation_p.E735*|DIAPH3_ENST00000400330.1_Nonsense_Mutation_p.E735*	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	735	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.E735*(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTGATTTCCTCATATGGCACC	0.348000													25	70					4.26978e-12	6.00196e-12	0.083992	1	0
LAMA2	3908	broad.mit.edu	37	6	129674483	129674483	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:129674483C>T	ENST00000421865.2	+	32	4747	c.4698C>T	c.(4696-4698)cgC>cgT	p.R1566R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1566	Laminin EGF-like 17.				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	p.R1566R(2)		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)		GGCATGCACGCGAGGGCTGGG	0.537000													24	64					0	0	0.099896	0	0
OLFM2	93145	broad.mit.edu	37	19	9968420	9968420	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:9968420C>T	ENST00000264833.4	-	3	516	c.331G>A	c.(331-333)Gat>Aat	p.D111N	OLFM2_ENST00000590841.1_Missense_Mutation_p.D33N	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	111						extracellular region		p.D111N(3)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						AGGGACCCATCAGCTGCCCGG	0.577000													36	61					0	0	0.064281	0	0
MPEG1	219972	broad.mit.edu	37	11	58979381	58979381	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:58979381G>T	ENST00000361050.3	-	1	1043	c.958C>A	c.(958-960)Cct>Act	p.P320T		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	320	MACPF.					integral to membrane		p.P320T(2)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGCAAGTCAGGTAGCATGTTG	0.557000													46	76					6.08268e-21	9.93687e-21	0.048971	1	0
ZNF845	91664	broad.mit.edu	37	19	53854476	53854476	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:53854476G>C	ENST00000458035.1	+	4	665	c.548G>C	c.(547-549)aGg>aCg	p.R183T	ZNF845_ENST00000595091.1_Missense_Mutation_p.R183T	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R183T(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATTTCTTGTAGGCCTAAAACC	0.373000													33	73					0	0	0.045705	0	0
CRB1	23418	broad.mit.edu	37	1	197396952	197396952	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:197396952G>T	ENST00000367397.1	+	3	1498	c.640G>T	c.(640-642)Ggt>Tgt	p.G214C	CRB1_ENST00000367399.2_Missense_Mutation_p.G721C|CRB1_ENST00000367400.3_Missense_Mutation_p.G833C|CRB1_ENST00000535699.1_Missense_Mutation_p.G764C|CRB1_ENST00000544212.1_Missense_Mutation_p.G314C|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	833	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.G833C(2)		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						CATCTACATTGGTGGCCTACC	0.378000													27	40					2.50493e-22	4.15452e-22	0.099896	1	0
NF1	4763	broad.mit.edu	37	17	29657518	29657518	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:29657518T>A	ENST00000358273.4	+	39	6195		c.e39+2		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(7)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCAAATCTAGTAAGTAATGAT	0.323000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			41	37					0	0	0.092188	0	0
LOC100420587	100420587	broad.mit.edu	37	19	29215153	29215153	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:29215153C>A	ENST00000592347.1	-	0	388																											GACTGTCCGCCATCCAGATGG	0.443000													4	35					0.0215528	0.0224611	0.021553	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058156	152058156	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:152058156G>A	ENST00000368806.1	-	3	2066	c.2002C>T	c.(2002-2004)Ctg>Ttg	p.L668L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	668							calcium ion binding	p.L668L(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCTATTTCCAGGGACTTTCTA	0.507000													53	293					0	0	0.048971	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282950	52282950	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:52282950G>T	ENST00000301190.6	+	3	723	c.496G>T	c.(496-498)Gac>Tac	p.D166Y	ANKRD33_ENST00000340970.4_Missense_Mutation_p.D31Y|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Intron	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	31								p.D166Y(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CAAAGGAGGGGACACGGCCCT	0.612000													13	127					0.000219431	0.000235445	0.020292	1	0
FAM98A	25940	broad.mit.edu	37	2	33810265	33810265	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:33810265G>A	ENST00000238823.8	-	8	1275	c.1135C>T	c.(1135-1137)Cat>Tat	p.H379Y	FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000441530.2_Missense_Mutation_p.H184Y			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	380	Gly-rich.							p.H379Y(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCTCCTTGATGCTTATTTCCT	0.567000													67	125					0	0	0.048971	0	0
CCNJL	79616	broad.mit.edu	37	5	159680488	159680488	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:159680488T>C	ENST00000393977.3	-	7	1490	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.H354R	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	402						nucleus		p.H402R(2)		endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATGGCCATATGCATGCTAAG	0.607000													99	88					0	0	0.048971	0	0
ENG	2022	broad.mit.edu	37	9	130588868	130588868	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:130588868C>A	ENST00000344849.3	-	4	724	c.444G>T	c.(442-444)gaG>gaT	p.E148D	ENG_ENST00000373203.4_Missense_Mutation_p.E148D			P17813	EGLN_HUMAN	endoglin	148					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	p.E148D(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CAGCTGCCCACTCAAGGATCT	0.612000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				15	98					1.45105e-14	2.13344e-14	0.038395	1	0
CHIT1	1118	broad.mit.edu	37	1	203192633	203192633	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:203192633G>T	ENST00000367229.1	-	5	504	c.470C>A	c.(469-471)aCc>aAc	p.T157N	CHIT1_ENST00000535569.1_Missense_Mutation_p.T148N|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.T138N	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	157					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	p.T157N(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTGTACCAGGGTTGTGAAGCG	0.627000													18	93					9.86323e-18	1.52432e-17	0.091800	1	0
FHL2	2274	broad.mit.edu	37	2	106015303	106015303	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:106015303C>T	ENST00000344213.4	-	1	378	c.251G>A	c.(250-252)aGa>aAa	p.R84K	FHL2_ENST00000409177.1_Intron|FHL2_ENST00000322142.8_Intron|FHL2_ENST00000336660.5_Intron|FHL2_ENST00000393352.3_Intron|FHL2_ENST00000358129.4_5'UTR|FHL2_ENST00000408995.1_Intron|FHL2_ENST00000393353.3_5'UTR|FHL2_ENST00000607522.1_Intron			Q14192	FHL2_HUMAN	four and a half LIM domains 2	0	LIM zinc-binding 1.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						TCTCACCAGTCTCCCCAACTC	0.677000													6	15					0	0	0.029380	0	0
ADAM7	8756	broad.mit.edu	37	8	24350690	24350690	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:24350690A>T	ENST00000175238.6	+	16	1873	c.1790A>T	c.(1789-1791)gAt>gTt	p.D597V	ADAM7_ENST00000380789.1_Missense_Mutation_p.D597V|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.D369V|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	597	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.D597V(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTATACCATGATTCTACAGAC	0.403000													24	49					0	0	0.083992	0	0
NF1	4763	broad.mit.edu	37	17	29667614	29667614	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:29667614T>A	ENST00000358273.4	+	47	7396	c.7013T>A	c.(7012-7014)cTt>cAt	p.L2338H	NF1_ENST00000444181.2_Missense_Mutation_p.L131H|NF1_ENST00000356175.3_Missense_Mutation_p.L2317H|NF1_ENST00000417592.2_Missense_Mutation_p.L51H	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2338					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.L2338H(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCGCACTTCTTGAACAAAAC	0.443000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			8	84					0	0	0.038147	0	0
ARSF	416	broad.mit.edu	37	X	2990067	2990067	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:2990067G>T	ENST00000381127.1	+	3	233	c.11_splice	c.e3-1	p.R4_splice	ARSF_ENST00000537104.1_Splice_Site_p.R4_splice|ARSF_ENST00000359361.2_Splice_Site_p.R4_splice	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	4						extracellular region	arylsulfatase activity|metal ion binding	p.R4S(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCTTTCCAGGAGACCCTTGG	0.493000													21	41					7.45023e-12	1.03655e-11	0.055883	1	0
ANKRD24	170961	broad.mit.edu	37	19	4219712	4219712	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:4219712G>T	ENST00000600132.1	+	19	3404	c.3128G>T	c.(3127-3129)cGg>cTg	p.R1043L	ANKRD24_ENST00000318934.4_Missense_Mutation_p.R1043L|ANKRD24_ENST00000262970.5_Missense_Mutation_p.R1133L	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1043								p.R1133L(2)|p.R608L(2)|p.R1043L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GCCCAGAGCCGGGCCCAGGAG	0.657000													31	51					3.69857e-22	6.11556e-22	0.037714	1	0
PCDH17	27253	broad.mit.edu	37	13	58207470	58207470	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:58207470G>T	ENST00000377918.3	+	1	816	c.790G>T	c.(790-792)Gat>Tat	p.D264Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	264	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.D264Y(2)		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)		AGTGGTCATCGATCTGAACGC	0.587000													52	128					6.81593e-30	1.2569e-29	0.048971	1	0
INPP5D	3635	broad.mit.edu	37	2	234112954	234112954	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:234112954C>T	ENST00000359570.5	+	28	3122	c.3122C>T	c.(3121-3123)cCc>cTc	p.1041_1041insL	INPP5D_ENST00000455936.2_Missense_Mutation_p.805_805insL|INPP5D_ENST00000450745.1_Missense_Mutation_p.805_805insL			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	p.P1053L(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGCCCGGAACCCGGCATCTTG	0.682000													7	60					0	0	0.047766	0	0
OR5M1	390168	broad.mit.edu	37	11	56380768	56380768	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:56380768T>A	ENST00000526538.1	-	1	210	c.211A>T	c.(211-213)Att>Ttt	p.I71F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I71F(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GAATAGCAAATGTCTACAAAG	0.468000													67	90					0	0	0.048971	0	0
TG	7038	broad.mit.edu	37	8	134042065	134042065	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:134042065G>T	ENST00000220616.4	+	41	7076		c.e41-1		TG_ENST00000519543.1_Splice_Site|TG_ENST00000542445.1_Splice_Site|TG_ENST00000377869.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.?(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTTTCTGAAGGGTCCGGAGA	0.572000													19	47					3.62473e-10	4.74003e-10	0.062417	1	0
HSPA6	3310	broad.mit.edu	37	1	161496061	161496061	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:161496061T>A	ENST00000309758.4	+	1	2026	c.1613T>A	c.(1612-1614)gTg>gAg	p.V538E		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	538					response to unfolded protein		ATP binding	p.V538E(2)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGGGACAGAGTGGCTGCCAAA	0.547000													9	30					0	0	0.069234	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126597	37126597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:37126597G>T	ENST00000336755.5	+	2	374	c.268G>T	c.(268-270)Gag>Tag	p.E90*	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000322831.6_Nonsense_Mutation_p.E89*|ZCCHC7_ENST00000534928.1_Intron	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	90							nucleic acid binding|zinc ion binding	p.E90*(2)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		AGATGGGTCAGAGGTCATCAC	0.398000													30	229					3.90053e-15	5.84542e-15	0.050027	1	0
PHLDA3	23612	broad.mit.edu	37	1	201437745	201437745	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:201437745C>T	ENST00000367311.3	-	1	567	c.170G>A	c.(169-171)cGc>cAc	p.R57H	PHLDA3_ENST00000367309.1_Missense_Mutation_p.R57H	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	57	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding			lung(1)|prostate(1)	2						GGCCTTGATGCGGGCGAAGCT	0.687000													4	132					0	0	0.009096	0	0
ZNF208	7757	broad.mit.edu	37	19	22155180	22155180	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:22155180C>T	ENST00000397126.4	-	4	2804	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.E786K(4)|p.E886K(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGGGTTTCTCTCCAGTATGA	0.378000													38	66					0	0	0.069456	0	0
SCN5A	6331	broad.mit.edu	37	3	38622447	38622447	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:38622447C>A	ENST00000413689.1	-	17	3396	c.3203G>T	c.(3202-3204)gGc>gTc	p.G1068V	SCN5A_ENST00000414099.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000455624.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1068V|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1068V|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1068V|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1068V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1068					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.G1068V(4)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCCTCCGTGCCCAGGCTGTT	0.632000													10	35					3.86212e-05	4.27031e-05	0.069234	1	0
KHNYN	23351	broad.mit.edu	37	14	24901180	24901180	+	Missense_Mutation	SNP	G	G	T	rs142344659		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:24901180G>T	ENST00000251343.5	+	3	852	c.713G>T	c.(712-714)gGa>gTa	p.G238V	KHNYN_ENST00000553935.1_Missense_Mutation_p.G238V|KHNYN_ENST00000556842.1_Missense_Mutation_p.G238V			O15037	KHNYN_HUMAN	KH and NYN domain containing	238								p.G238V(2)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTGGACACTGGATCTATGGGA	0.627000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	123					2.5401e-28	4.54544e-28	0.048971	1	0
ANKRD36C	400986	broad.mit.edu	37	2	96579878	96579878	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:96579878C>T	ENST00000456556.1	-	40	2613	c.2529G>A	c.(2527-2529)gaG>gaA	p.E843E	ANKRD36C_ENST00000295246.5_5'UTR|ANKRD36C_ENST00000420871.2_5'UTR|ANKRD36C_ENST00000419039.2_5'UTR					ankyrin repeat domain 36C									p.E843E(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTTCTCCATCCTCTTTTCCTC	0.343000													6	3					0	0	0.029380	0	0
THSD7A	221981	broad.mit.edu	37	7	11486977	11486977	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:11486977C>A	ENST00000423059.3	-	12	2931	c.2680G>T	c.(2680-2682)Gcc>Tcc	p.A894S	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	894						integral to membrane		p.A894S(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGGGTAAGGGCTGGCACAGGG	0.507000										HNSCC(18;0.044)			18	60					1.99824e-07	2.3891e-07	0.033300	1	0
NAALAD2	10003	broad.mit.edu	37	11	89896515	89896515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:89896515G>T	ENST00000534061.1	+	10	1343	c.1113G>T	c.(1111-1113)tgG>tgT	p.W371C	NAALAD2_ENST00000525171.1_Missense_Mutation_p.W278C|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.W338C	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	371	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.W371C(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGGACTCCTGGGTATTTGGAG	0.383000													42	258					9.85913e-13	1.40036e-12	0.111260	1	0
OR13C3	138803	broad.mit.edu	37	9	107298376	107298376	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:107298376G>C	ENST00000374781.2	-	1	761	c.719C>G	c.(718-720)cCa>cGa	p.P240R		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P240R(2)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GACCATCAGTGGAAGAACCAG	0.428000													17	102					0	0	0.033300	0	0
SPG11	80208	broad.mit.edu	37	15	44914493	44914493	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr15:44914493A>G	ENST00000261866.7	-	13	2385	c.2369T>C	c.(2368-2370)aTa>aCa	p.I790T	SPG11_ENST00000535302.2_Missense_Mutation_p.I790T|SPG11_ENST00000558319.1_Missense_Mutation_p.I790T|SPG11_ENST00000427534.2_Missense_Mutation_p.I790T	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	790					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CACGAAGTCTATAGTTCTTTT	0.299000													3	48					0	0	0.004672	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698533	111698533	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:111698533C>A	ENST00000340433.2	+	1	807	c.577C>A	c.(577-579)Cag>Aag	p.Q193K		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	193							nucleic acid binding|zinc ion binding	p.Q193K(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGATCCCAACCAGGATGAAGA	0.473000													91	97					4.78148e-37	9.35657e-37	0.048971	1	0
LTF	4057	broad.mit.edu	37	3	46496816	46496816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:46496816C>A	ENST00000231751.4	-	5	911	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	LTF_ENST00000426532.2_Nonsense_Mutation_p.E162*|LTF_ENST00000417439.1_Nonsense_Mutation_p.E206*	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	206	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.Q205_E206>H*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AAGTACGGTTCCTGGGAGGAG	0.582000													15	88					3.27435e-08	4.01182e-08	0.020292	1	0
PLXNA4	91584	broad.mit.edu	37	7	131830026	131830026	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:131830026C>A	ENST00000359827.3	-	29	6039	c.5077G>T	c.(5077-5079)Gat>Tat	p.D1693Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1693Y			Q9HCM2	PLXA4_HUMAN	plexin A4	1693						integral to membrane|intracellular|plasma membrane		p.D1693Y(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAGAGGTCATCCACAAACTTC	0.537000													26	24					4.59853e-10	5.95619e-10	0.108266	1	0
NMD3	51068	broad.mit.edu	37	3	160945076	160945076	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:160945076A>T	ENST00000460469.1	+	3	676	c.221A>T	c.(220-222)gAa>gTa	p.E74V	NMD3_ENST00000351193.2_Missense_Mutation_p.E74V|NMD3_ENST00000472947.1_Missense_Mutation_p.E74V|NMD3_ENST00000478160.1_3'UTR			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	74					protein transport	cytoplasm|nucleolus|nucleoplasm		p.E74V(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TGTGCTTTAGAATCCAGGGAA	0.358000													10	80					0	0	0.093190	0	0
ABHD16A	7920	broad.mit.edu	37	6	31671050	31671050	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:31671050C>A	ENST00000395952.3	-	1	171	c.9G>T	c.(7-9)aaG>aaT	p.K3N	XXbac-BPG32J3.20_ENST00000461287.1_Intron|ABHD16A_ENST00000538874.1_5'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	3						integral to membrane	hydrolase activity|protein binding	p.K3N(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						AGCTCAGCAGCTTCGCCATGG	0.682000													16	30					1.5739e-10	2.10887e-10	0.028581	1	0
MDM1	56890	broad.mit.edu	37	12	68708818	68708818	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:68708818C>A	ENST00000303145.7	-	9	1495	c.1409G>T	c.(1408-1410)gGg>gTg	p.G470V	MDM1_ENST00000411698.2_Missense_Mutation_p.G435V|MDM1_ENST00000540418.1_Missense_Mutation_p.G190V	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	470						nucleus		p.G470L(2)|p.G470V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTTCCTGTCCCCTTCCTCTTC	0.498000													46	332					2.13384e-23	3.61623e-23	0.048971	1	0
IGSF11	152404	broad.mit.edu	37	3	118624531	118624531	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:118624531G>T	ENST00000354673.2	-	7	992	c.612C>A	c.(610-612)atC>atA	p.I204I	IGSF11_ENST00000491903.1_Silent_p.I205I|IGSF11_ENST00000425327.2_Silent_p.I204I|IGSF11_ENST00000393775.2_Silent_p.I205I|IGSF11_ENST00000489689.1_Silent_p.I205I|IGSF11_ENST00000441144.2_Silent_p.I204I	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	205	Ig-like C2-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	p.I204I(2)|p.I205I(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACAGGGCACTGATGTTCCGGA	0.473000													13	87					1.61879e-10	2.15311e-10	0.093190	1	0
MYH6	4624	broad.mit.edu	37	14	23871768	23871768	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:23871768C>A	ENST00000405093.3	-	12	1116	c.1046G>T	c.(1045-1047)gGc>gTc	p.G349V	MYH6_ENST00000356287.3_Missense_Mutation_p.G349V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	349	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.G349V(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTGTAGACGCCAGCTTTCTC	0.612000													70	331					1.34568e-36	2.61446e-36	0.048971	1	0
OR6S1	341799	broad.mit.edu	37	14	21109284	21109284	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:21109284G>T	ENST00000320704.3	-	1	566	c.567C>A	c.(565-567)cgC>cgA	p.R189R		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R189R(2)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGCAAGCCAGGCGGAGCAGTG	0.572000													62	80					1.19403e-26	2.0886e-26	0.048971	1	0
GDF2	2658	broad.mit.edu	37	10	48413769	48413769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:48413769C>A	ENST00000249598.1	-	2	1258	c.1099G>T	c.(1099-1101)Gat>Tat	p.D367Y		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	367					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.D367Y(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGCGTCACATCGTCAGCCAAG	0.577000													19	91					4.35082e-09	5.46615e-09	0.055883	1	0
KIAA2018	205717	broad.mit.edu	37	3	113388977	113388977	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:113388977G>A	ENST00000316407.4	-	5	560	c.150C>T	c.(148-150)gcC>gcT	p.A50A	KIAA2018_ENST00000491165.1_Silent_p.A50A|KIAA2018_ENST00000478658.1_Silent_p.A50A	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	50	Helix-loop-helix motif.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.A50A(2)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CCTGCTTCAGGGCAGGAGAAC	0.368000													11	104					0	0	0.080935	0	0
PTPRC	5788	broad.mit.edu	37	1	198703339	198703339	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:198703339C>G	ENST00000367376.2	+	21	2322	c.2151C>G	c.(2149-2151)ccC>ccG	p.P717P	PTPRC_ENST00000442510.2_Silent_p.P719P|PTPRC_ENST00000348564.6_Silent_p.P558P|PTPRC_ENST00000352140.3_Silent_p.P669P|PTPRC_ENST00000594404.1_Silent_p.P556P	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	717	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.P717P(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCAAAGAACCCAGGAAATACA	0.294000													53	84					0	0	0.048971	0	0
BCHE	590	broad.mit.edu	37	3	165548021	165548021	+	Silent	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:165548021A>T	ENST00000264381.3	-	2	967	c.801T>A	c.(799-801)gcT>gcA	p.A267A	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	267					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.A267A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTCTGTTCCTAGCTTCATAAA	0.403000													33	101					0	0	0.050027	0	0
NUP205	23165	broad.mit.edu	37	7	135304240	135304240	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:135304240C>T	ENST00000285968.6	+	29	4059	c.4033C>T	c.(4033-4035)Cac>Tac	p.H1345Y		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1345					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.H1345Y(2)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ACTGACTGCTCACCTAAGCCA	0.502000													19	101					0	0	0.043863	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31104473	31104473	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:31104473C>A	ENST00000304166.4	+	3	367	c.78C>A	c.(76-78)atC>atA	p.I26I	ADCYAP1R1_ENST00000409489.1_Silent_p.I26I|ADCYAP1R1_ENST00000396211.2_Silent_p.I26I|ADCYAP1R1_ENST00000409363.1_Silent_p.I26I	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	26					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.I26I(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CTGACTGCATCTTCAAGAAGG	0.582000													10	94					2.17888e-05	2.44899e-05	0.058154	1	0
USH1C	10083	broad.mit.edu	37	11	17554815	17554815	+	Silent	SNP	G	G	T	rs121908370		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:17554815G>T	ENST00000005226.7	-	2	90	c.91C>A	c.(91-93)Cga>Aga	p.R31R	USH1C_ENST00000527720.1_5'UTR|USH1C_ENST00000527020.1_Silent_p.R31R|USH1C_ENST00000318024.4_Silent_p.R31R	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	31					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.R31R(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TGGTACATTCGCAGCACATCA	0.507000													18	105					2.94398e-08	3.62336e-08	0.043863	1	0
LIMA1	51474	broad.mit.edu	37	12	50586249	50586249	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:50586249G>T	ENST00000547825.1	-	3	1489	c.220C>A	c.(220-222)Ccc>Acc	p.P74T	LIMA1_ENST00000552823.1_Missense_Mutation_p.P216T|LIMA1_ENST00000552909.1_Missense_Mutation_p.P216T|LIMA1_ENST00000394943.3_Missense_Mutation_p.P377T|LIMA1_ENST00000552491.1_Missense_Mutation_p.P74T|LIMA1_ENST00000341247.4_Missense_Mutation_p.P376T|LIMA1_ENST00000552783.1_Missense_Mutation_p.P217T|LIMA1_ENST00000552008.1_5'UTR	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	376					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.P376I(2)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ATTGCTTTGGGAGGAGAACTT	0.448000													32	95					9.17885e-22	1.504e-21	0.059317	1	0
LAMC1	3915	broad.mit.edu	37	1	183091312	183091312	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:183091312C>A	ENST00000258341.4	+	13	2584	c.2327C>A	c.(2326-2328)cCt>cAt	p.P776H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	776	Laminin EGF-like 7.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.P776H(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTCCGTGTCCTGGAGGTTCA	0.537000													27	151					1.42536e-11	1.95313e-11	0.099896	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072820	17072820	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:17072820C>G	ENST00000359963.3	-	1	880	c.621G>C	c.(619-621)gcG>gcC	p.A207A		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	207					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.A207A(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCCCGGGCAGCGCGCACACCC	0.617000													20	116					0	0	0.062417	0	0
NBEA	26960	broad.mit.edu	37	13	35770394	35770394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:35770394G>T	ENST00000540320.1	+	31	5855	c.5321G>T	c.(5320-5322)aGa>aTa	p.R1774I	NBEA_ENST00000400445.3_Missense_Mutation_p.R1774I|NBEA_ENST00000379939.2_Missense_Mutation_p.R1771I|NBEA_ENST00000310336.4_Missense_Mutation_p.R1774I			Q8NFP9	NBEA_HUMAN	neurobeachin	1774						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.R1774I(2)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCATTGAAGAGAGAAACACAA	0.393000													18	47					1.67942e-08	2.07166e-08	0.038395	1	0
GATAD2A	54815	broad.mit.edu	37	19	19609385	19609385	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:19609385G>A	ENST00000404158.1	+	10	1476	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	GATAD2A_ENST00000429563.2_Missense_Mutation_p.R180H|GATAD2A_ENST00000358713.3_Missense_Mutation_p.R353H|GATAD2A_ENST00000360315.3_Missense_Mutation_p.R353H|GATAD2A_ENST00000252577.5_Missense_Mutation_p.R353H|GATAD2A_ENST00000537887.1_5'UTR			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	353					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CTGGCGCTGCGCAAACAGCTG	0.642000													3	34					0	0	0.014758	0	0
LAMA2	3908	broad.mit.edu	37	6	129635942	129635942	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:129635942G>T	ENST00000421865.2	+	24	3603	c.3555_splice	c.e24+1	p.W1185_splice		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1185	Laminin IV type A 2.				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	p.W1185F(2)		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)		ATCCGGACGTGGGTGAGTAGG	0.483000													25	81					9.39395e-14	1.37006e-13	0.030593	1	0
PRR23A	729627	broad.mit.edu	37	3	138724401	138724401	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:138724401G>T	ENST00000383163.2	-	1	709	c.710C>A	c.(709-711)tCt>tAt	p.S237Y		NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	237	Pro-rich.							p.S237Y(1)		endometrium(3)|kidney(1)|lung(7)	11						CACGCGCGGAGAGGGAGGTAG	0.652000													5	16					0.000602214	0.000637363	0.014758	1	0
TSGA10IP	254187	broad.mit.edu	37	11	65715521	65715521	+	RNA	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:65715521C>T	ENST00000532620.1	+	0	1284							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.S321S(1)		endometrium(2)|kidney(3)|lung(9)	14						TCCAGGCCTCCAAGCGGAATG	0.597000													4	9					0	0	0.009096	0	0
VILL	50853	broad.mit.edu	37	3	38040837	38040837	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:38040837G>T	ENST00000283713.6	+	11	1355	c.1089G>T	c.(1087-1089)tcG>tcT	p.S363S	VILL_ENST00000465644.1_Silent_p.S81S|VILL_ENST00000383759.2_Silent_p.S363S			O15195	VILL_HUMAN	villin-like	363					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	p.S363S(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CAGATAAATCGATTCATGTAA	0.617000													12	60					0.000151284	0.000164598	0.105934	1	0
LOC440040	440040	broad.mit.edu	37	11	49831408	49831408	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:49831408C>A	ENST00000527477.1	+	0	1633																											ACTGCAACACCTACAAGTTTT	0.453000													21	49					7.45023e-12	1.03655e-11	0.055883	1	0
SPTA1	6708	broad.mit.edu	37	1	158607828	158607828	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:158607828C>A	ENST00000368148.3	-	36	5364	c.5184G>T	c.(5182-5184)tgG>tgT	p.W1728C	SPTA1_ENST00000368147.3_Missense_Mutation_p.W1728C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1728					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.W1728C(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATACTCTATCCAGGATTCCT	0.408000													80	163					8.40228e-50	1.72485e-49	0.048971	1	0
SLC8A1	6546	broad.mit.edu	37	2	40655830	40655830	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:40655830T>A	ENST00000406785.1	-	2	1780	c.1591A>T	c.(1591-1593)Att>Ttt	p.I531F	SLC8A1_ENST00000542024.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.I531F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.I531F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000403092.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000402441.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000542756.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000332839.4_Missense_Mutation_p.I531F|SLC8A1_ENST00000405901.3_Missense_Mutation_p.I531F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	531	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.I531F(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCATCAAAAATAGTTACAGTG	0.438000													43	97					0	0	0.039052	0	0
SLIT3	6586	broad.mit.edu	37	5	168201305	168201305	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:168201305C>A	ENST00000519560.1	-	13	1649	c.1230G>T	c.(1228-1230)ctG>ctT	p.L410L	SLIT3_ENST00000332966.8_Silent_p.L410L|SLIT3_ENST00000404867.3_Silent_p.L410L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	410					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.L410L(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTTGTCATACAGGGAGAGCA	0.567000													244	355					1.40248e-98	3.02758e-98	0.048971	1	0
DST	667	broad.mit.edu	37	6	56516041	56516041	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:56516041G>T	ENST00000370754.5	-	10	1116	c.1115_splice	c.e10-1	p.P373_splice	DST_ENST00000370769.4_Splice_Site_p.P195_splice|DST_ENST00000370788.2_Splice_Site_p.P195_splice|DST_ENST00000421834.2_Splice_Site_p.P195_splice|DST_ENST00000361203.3_Splice_Site_p.P195_splice|DST_ENST00000312431.6_Splice_Site_p.P195_splice			Q03001	DYST_HUMAN	dystonin	195					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.P195M(2)|p.P373M(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCAGGTCCGGCCTAGGAAAA	0.323000													6	13					0.000157383	0.000170212	0.038147	1	0
CCDC136	64753	broad.mit.edu	37	7	128452071	128452071	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:128452071G>T	ENST00000297788.4	+	13	2613	c.2246G>T	c.(2245-2247)gGt>gTt	p.G749V	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	749						integral to membrane	protein binding	p.G749F(4)|p.G865F(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AAGAGCTATGGTAGCATGGTC	0.498000													84	63					6.85908e-49	1.39229e-48	0.048971	1	0
GPR112	139378	broad.mit.edu	37	X	135431732	135431732	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:135431732C>T	ENST00000394143.1	+	6	6158	c.5867C>T	c.(5866-5868)tCa>tTa	p.S1956L	GPR112_ENST00000370652.1_Missense_Mutation_p.S1956L|GPR112_ENST00000287534.4_Missense_Mutation_p.S1893L|GPR112_ENST00000412101.1_Missense_Mutation_p.S1751L|GPR112_ENST00000394141.1_Missense_Mutation_p.S1751L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1956					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1956L(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAGAACCCTTCATTATCAACA	0.428000													72	94					0	0	0.048971	0	0
TMEM40	55287	broad.mit.edu	37	3	12777053	12777053	+	Splice_Site	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:12777053C>T	ENST00000314124.7	-	11	1039		c.e11+1		TMEM40_ENST00000435575.1_Splice_Site|TMEM40_ENST00000435218.2_Splice_Site|TMEM40_ENST00000431022.2_Splice_Site|TMEM40_ENST00000476331.1_Splice_Site|TMEM40_ENST00000264728.8_Splice_Site	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40							integral to membrane		p.?(2)		breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TTAAAAGTTACCTGTCAGCCT	0.448000													21	109					0	0	0.076483	0	0
GFAP	2670	broad.mit.edu	37	17	42989121	42989121	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:42989121G>C	ENST00000253408.5	-	5	890	c.825C>G	c.(823-825)ctC>ctG	p.L275L	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.L275L|GFAP_ENST00000435360.2_Silent_p.L275L	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	275	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.L275L(4)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGCCTGGCGGAGCAGCTCCG	0.677000													38	52					0	0	0.104719	0	0
DHFRL1	200895	broad.mit.edu	37	3	93780055	93780055	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:93780055T>A	ENST00000394221.2	-	2	750	c.301A>T	c.(301-303)Act>Tct	p.T101S	DHFRL1_ENST00000314636.2_Missense_Mutation_p.T101S|DHFRL1_ENST00000481631.1_Intron	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	101	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding	p.T101S(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						GGTCGTTCAGTAAGTTTTAAG	0.378000													15	179					0	0	0.020292	0	0
IL2RB	3560	broad.mit.edu	37	22	37533689	37533689	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:37533689G>T	ENST00000216223.5	-	6	673	c.475C>A	c.(475-477)Cac>Aac	p.H159N		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	159	Fibronectin type-III.				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	p.H159N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCAAAGTAGTGGGAGGCTTGG	0.587000													27	115					1.42536e-11	1.95313e-11	0.099896	1	0
MDM1	56890	broad.mit.edu	37	12	68708819	68708819	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:68708819C>A	ENST00000303145.7	-	9	1494	c.1408G>T	c.(1408-1410)Ggg>Tgg	p.G470W	MDM1_ENST00000411698.2_Missense_Mutation_p.G435W|MDM1_ENST00000540418.1_Missense_Mutation_p.G190W	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	470						nucleus		p.G470L(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTCCTGTCCCCTTCCTCTTCA	0.498000													47	335					4.18559e-23	7.02765e-23	0.048971	1	0
ROBO2	6092	broad.mit.edu	37	3	77684057	77684057	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:77684057C>A	ENST00000461745.1	+	24	4697	c.3797C>A	c.(3796-3798)aCc>aAc	p.T1266N	ROBO2_ENST00000332191.8_Missense_Mutation_p.T1327N|ROBO2_ENST00000487694.3_Missense_Mutation_p.T1282N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1266					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.T1282N(2)|p.T1266N(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCTCGACCTACCAGCCCATTT	0.463000													37	94					1.07121e-22	1.79304e-22	0.092188	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113519512	113519512	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:113519512C>G	ENST00000284601.3	-	4	1703	c.1635G>C	c.(1633-1635)atG>atC	p.M545I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	545					glycogen metabolic process	integral to membrane		p.M545I(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TAGGGTTACCCATCTTCCTTT	0.413000													73	59					0	0	0.048971	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117289	46117289	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr21:46117289T>A	ENST00000400365.3	+	1	203	c.173T>A	c.(172-174)gTa>gAa	p.V58E	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	58	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.V58E(2)		large_intestine(1)|lung(8)	9						GTGAGCCGTGTATCCAGCCCC	0.692000													26	152					0	0	0.091800	0	0
ZIC1	7545	broad.mit.edu	37	3	147128282	147128282	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:147128282T>A	ENST00000282928.4	+	1	1112	c.383T>A	c.(382-384)tTc>tAc	p.F128Y		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	128					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F128Y(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCGGGGGCTTCGGGGGCCCA	0.711000													6	25					0	0	0.038147	0	0
NAT10	55226	broad.mit.edu	37	11	34139979	34139979	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:34139979G>T	ENST00000257829.3	+	8	915	c.709G>T	c.(709-711)Gag>Tag	p.E237*	NAT10_ENST00000527971.1_Nonsense_Mutation_p.E237*|NAT10_ENST00000531159.2_Nonsense_Mutation_p.E165*	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	237						nucleolus	ATP binding|N-acetyltransferase activity|protein binding	p.E237*(2)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGAGCTGAGGGAGTTGAAGGA	0.532000													23	36					4.4004e-07	5.21529e-07	0.083992	1	0
ATP8B1	5205	broad.mit.edu	37	18	55359150	55359150	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:55359150G>A	ENST00000536015.1	-	12	1228	c.1109C>T	c.(1108-1110)tCt>tTt	p.S370F	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.S370F|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	370					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S370F(2)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GAGGTACCAAGAGGAATTGCC	0.448000													10	36					0	0	0.058154	0	0
PRDM9	56979	broad.mit.edu	37	5	23517995	23517995	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:23517995C>A	ENST00000296682.3	+	5	489	c.307C>A	c.(307-309)Cct>Act	p.P103T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	103					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.P103T(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TTTAGTCAAACCTCCTTGGAT	0.358000										HNSCC(3;0.000094)			54	213					6.3091e-27	1.10715e-26	0.048971	1	0
COX6B1	1340	broad.mit.edu	37	19	36145541	36145541	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:36145541C>T	ENST00000246554.3	+	3	367	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	COX6B1_ENST00000392201.1_Missense_Mutation_p.R59C|COX6B1_ENST00000592141.1_Missense_Mutation_p.R59C	NM_001863.4	NP_001854.1	P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	59					respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity	p.R76C(2)|p.R59C(2)		lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGGTACCAGCGTGTGTACCA	0.582000													16	107					0	0	0.024245	0	0
OR5B21	219968	broad.mit.edu	37	11	58275002	58275002	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:58275002T>A	ENST00000360374.2	-	1	576	c.577A>T	c.(577-579)Agc>Tgc	p.S193C		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S193C(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACCAACTTGCTGATGCGTGTG	0.463000													12	46					0	0	0.105934	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60015426	60015426	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:60015426G>A	ENST00000586569.1	+	2	139	c.101G>A	c.(100-102)tGt>tAt	p.C34Y	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.C34Y	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	34					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	p.C34Y(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GCTCCTCCATGTACCAGTGAG	0.483000													44	67					0	0	0.042209	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													6	76					0	0	0.029380	0	0
PXDNL	137902	broad.mit.edu	37	8	52287227	52287227	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:52287227C>A	ENST00000356297.4	-	18	3722	c.3622G>T	c.(3622-3624)Ggt>Tgt	p.G1208C	PXDNL_ENST00000543296.1_Missense_Mutation_p.G1208C	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1208					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.G407C(2)|p.G1208C(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACTCTTGTACCAGGAATCAGG	0.478000													11	69					3.86212e-05	4.27031e-05	0.069234	1	0
ALPI	248	broad.mit.edu	37	2	233321921	233321921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:233321921C>A	ENST00000295463.3	+	5	614	c.537C>A	c.(535-537)taC>taA	p.Y179*		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	179					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.Y179*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGGCACCTACGCACACACAG	0.607000													10	105					3.86212e-05	4.27031e-05	0.069234	1	0
MYH8	4626	broad.mit.edu	37	17	10322326	10322326	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:10322326G>T	ENST00000403437.2	-	4	326	c.232C>A	c.(232-234)Caa>Aaa	p.Q78K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	78	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.Q78K(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGGAAGACTTGGTCTTCCCTG	0.448000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				20	58					8.34094e-07	9.77903e-07	0.049695	1	0
DPYSL5	56896	broad.mit.edu	37	2	27150120	27150120	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:27150120G>T	ENST00000288699.6	+	4	578		c.e4-1		DPYSL5_ENST00000401478.1_Splice_Site	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5						axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.?(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTTCTCCAGGTGAAAGCAG	0.577000													16	13					6.72482e-11	9.10026e-11	0.024245	1	0
ZNF667	63934	broad.mit.edu	37	19	56954088	56954088	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:56954088G>T	ENST00000504904.3	-	7	995	c.276C>A	c.(274-276)acC>acA	p.T92T	ZNF667_ENST00000342634.3_Silent_p.T220T|ZNF667_ENST00000292069.6_Silent_p.T92T|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T92T(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTAACTTCTTGGTCTCACATT	0.373000													53	87					5.82388e-19	9.18317e-19	0.048971	1	0
ACSL6	23305	broad.mit.edu	37	5	131323838	131323838	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:131323838C>A	ENST00000379264.2	-	7	842	c.734G>T	c.(733-735)gGc>gTc	p.G245V	ACSL6_ENST00000379249.3_Missense_Mutation_p.G220V|ACSL6_ENST00000379244.1_Missense_Mutation_p.G220V|ACSL6_ENST00000431707.1_Missense_Mutation_p.G200V|ACSL6_ENST00000379240.1_Missense_Mutation_p.G220V|ACSL6_ENST00000544770.1_Missense_Mutation_p.G129V|ACSL6_ENST00000379255.1_Missense_Mutation_p.G185V|ACSL6_ENST00000543479.1_Missense_Mutation_p.G220V|ACSL6_ENST00000379246.1_Missense_Mutation_p.G231V|ACSL6_ENST00000379272.2_Missense_Mutation_p.G235V|ACSL6_ENST00000296869.4_Missense_Mutation_p.G245V|ACSL6_ENST00000357096.1_Missense_Mutation_p.G185V	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	220					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G245F(4)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCTTGAGGCCTGGAGTCTC	0.567000													154	240					7.183e-86	1.53841e-85	0.048971	1	0
DCHS1	8642	broad.mit.edu	37	11	6661905	6661905	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:6661905G>A	ENST00000299441.3	-	2	1351	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	314	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L314L(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTAACTGCAGCAGCCCCGTG	0.617000													16	96					0	0	0.091800	0	0
HOXB8	3218	broad.mit.edu	37	17	46690585	46690585	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:46690585C>A	ENST00000239144.4	-	2	945	c.711G>T	c.(709-711)gcG>gcT	p.A237A	HOXB8_ENST00000576562.1_Silent_p.A236A|HOXB7_ENST00000567101.1_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	237						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A237A(2)		large_intestine(1)|lung(8)|urinary_tract(2)	11						CGCCCTTCTGCGCGTCGCCCT	0.706000													60	86					2.22609e-26	3.88138e-26	0.048971	1	0
PTK2B	2185	broad.mit.edu	37	8	27312084	27312084	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:27312084G>T	ENST00000397501.1	+	35	3578	c.2770G>T	c.(2770-2772)Gtg>Ttg	p.V924L	PTK2B_ENST00000338238.4_Missense_Mutation_p.V882L|PTK2B_ENST00000517339.1_Missense_Mutation_p.V882L|PTK2B_ENST00000544172.1_Missense_Mutation_p.V924L|PTK2B_ENST00000420218.2_Missense_Mutation_p.V882L|PTK2B_ENST00000346049.5_Missense_Mutation_p.V924L	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	924	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.V924L(4)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CATCGGGAGCGTGGATGATCT	0.587000													11	75					2.80697e-09	3.54291e-09	0.080935	1	0
FLNC	2318	broad.mit.edu	37	7	128487758	128487758	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:128487758G>A	ENST00000325888.8	+	25	4557	c.4296G>A	c.(4294-4296)ccG>ccA	p.P1432P	FLNC_ENST00000346177.6_Silent_p.P1432P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1432					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.P1432P(3)		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						CAGGGAGCCCGTTCCGCGTGC	0.647000													21	125					0	0	0.062417	0	0
EXOC2	55770	broad.mit.edu	37	6	549257	549257	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:549257C>G	ENST00000230449.4	-	22	2291	c.2156G>C	c.(2155-2157)tGc>tCc	p.C719S	EXOC2_ENST00000448181.3_Missense_Mutation_p.C314S	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	719					exocytosis|protein transport			p.C719S(2)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTCTAGATAGCAGCAATTACT	0.373000													52	148					0	0	0.048971	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432400	104432400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:104432400G>A	ENST00000361820.3	-	3	2894	c.2294C>T	c.(2293-2295)gCt>gTt	p.A765V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	765					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CATGACAGCAGCCAAGTTTGC	0.408000													4	68					0	0	0.028581	0	0
ITGAL	3683	broad.mit.edu	37	16	30492758	30492758	+	Splice_Site	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:30492758A>G	ENST00000356798.6	+	7	756		c.e7-1		RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000358164.5_Splice_Site|ITGAL_ENST00000454514.2_Splice_Site|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)						blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.?(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTCCTTTTCTAGTTTGCTGCT	0.338000													19	27					0	0	0.049695	0	0
GPR128	84873	broad.mit.edu	37	3	100373932	100373932	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:100373932G>A	ENST00000273352.3	+	12	1901	c.1633G>A	c.(1633-1635)Gca>Aca	p.A545T	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.A250T	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	545					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A545T(2)		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						TACCTGGAACGCACTCAGCGC	0.458000													38	199					0	0	0.039052	0	0
DHX29	54505	broad.mit.edu	37	5	54572988	54572988	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:54572988T>C	ENST00000251636.5	-	13	2380	c.2232A>G	c.(2230-2232)acA>acG	p.T744T	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	744	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	p.T744T(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GTGTGAAATATGTAGAAAATT	0.363000													35	107					0	0	0.080422	0	0
OR6K3	391114	broad.mit.edu	37	1	158687606	158687606	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:158687606C>A	ENST00000368146.1	-	1	347	c.348G>T	c.(346-348)caG>caT	p.Q116H	OR6K3_ENST00000368145.1_Missense_Mutation_p.Q100H			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q116H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGAAATACATCTGCAAGATGC	0.483000													39	260					1.69901e-12	2.39446e-12	0.080422	1	0
COL22A1	169044	broad.mit.edu	37	8	139749775	139749775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:139749775C>A	ENST00000303045.6	-	23	2577	c.2131G>T	c.(2131-2133)Ggg>Tgg	p.G711W	COL22A1_ENST00000435777.1_Missense_Mutation_p.G711W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	711	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G711W(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCTGCAGCCCCAGCAATCCA	0.473000										HNSCC(7;0.00092)			6	84					0.0381472	0.0396032	0.038147	1	0
MGAM	8972	broad.mit.edu	37	7	141759688	141759688	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:141759688T>C	ENST00000475668.2	+	33	4035	c.3981T>C	c.(3979-3981)ccT>ccC	p.P1327P	MGAM_ENST00000549489.2_Silent_p.P1327P			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1327	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1327P(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACACAGCCTTATCCTGCCT	0.463000													3	35					0	0	0.004672	0	0
COX6B2	125965	broad.mit.edu	37	19	55865866	55865866	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:55865866C>A	ENST00000593184.1	-	2	103	c.24G>T	c.(22-24)gaG>gaT	p.E8D	COX6B2_ENST00000326529.4_Missense_Mutation_p.E8D|COX6B2_ENST00000588572.1_Missense_Mutation_p.E8D|COX6B2_ENST00000590900.1_Missense_Mutation_p.E8D|CTD-2105E13.6_ENST00000591954.3_3'UTR			Q6YFQ2	CX6B2_HUMAN	cytochrome c oxidase subunit VIb polypeptide 2 (testis)	8						mitochondrial crista|mitochondrial intermembrane space	cytochrome-c oxidase activity	p.E8D(2)		endometrium(1)|kidney(1)|lung(2)|pancreas(1)	5	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCTTGGGGGGCTCCTGGGCTT	0.667000													24	170					4.7796e-09	5.9499e-09	0.099896	1	0
SAA4	6291	broad.mit.edu	37	11	18253967	18253967	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:18253967C>A	ENST00000278222.4	-	3	385	c.205G>T	c.(205-207)Ggt>Tgt	p.G69C	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2			serum amyloid A4, constitutive									p.G69C(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GCCCAGACACCCCCAGGTCCT	0.507000													36	293					5.71845e-15	8.52284e-15	0.080422	1	0
OR2T27	403239	broad.mit.edu	37	1	248813304	248813304	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:248813304G>T	ENST00000344889.3	-	1	881	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N294K(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGACATCCTTGTTCCTAAGGC	0.478000													27	66					5.60225e-13	7.97807e-13	0.041601	1	0
RORB	6096	broad.mit.edu	37	9	77257566	77257566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:77257566G>T	ENST00000376896.2	+	4	1084	c.472G>T	c.(472-474)Gtc>Ttc	p.V158F	RORB_ENST00000396204.2_Missense_Mutation_p.V169F	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	169	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.V158F(2)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TTATTACAACGTCGATTCCGG	0.512000													22	64					1.40151e-16	2.12374e-16	0.055883	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745809	77745809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:77745809G>T	ENST00000409088.3	-	3	1600	c.1186C>A	c.(1186-1188)Caa>Aaa	p.Q396K	LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q397K|LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q397K|LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q396K|LRRTM4_ENST00000409093.1_Missense_Mutation_p.Q396K	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	396						integral to membrane		p.Q396K(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGGTGGATTGGGTGACGTCA	0.493000													5	97					0.000602214	0.000637363	0.014758	1	0
RNASE2	6036	broad.mit.edu	37	14	21424301	21424301	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:21424301G>C	ENST00000304625.2	+	2	461	c.371G>C	c.(370-372)aGg>aCg	p.R124T		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	124					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	p.R124T(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TCAAACTGCAGGTATGCGCAG	0.458000													52	165					0	0	0.048971	0	0
SLIT3	6586	broad.mit.edu	37	5	168093468	168093468	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:168093468C>A	ENST00000519560.1	-	36	4982	c.4563G>T	c.(4561-4563)gcG>gcT	p.A1521A	CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Silent_p.A1528A	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1521	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.A1521A(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTAGGAACACGCGAGGCAGC	0.612000													8	18					0.0581538	0.0602584	0.058154	1	0
KRTAP3-1	83896	broad.mit.edu	37	17	39165133	39165133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:39165133C>G	ENST00000391588.1	-	1	233	c.194G>C	c.(193-195)tGc>tCc	p.C65S	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	65						keratin filament	structural molecule activity	p.C65S(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				GAGCAGCCAGCAAGTTGGCAC	0.597000													36	44					0	0	0.074837	0	0
GPR116	221395	broad.mit.edu	37	6	46826786	46826786	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:46826786T>C	ENST00000283296.7	-	17	3142	c.2854A>G	c.(2854-2856)Acg>Gcg	p.T952A	GPR116_ENST00000545669.1_Missense_Mutation_p.T381A|GPR116_ENST00000362015.4_Missense_Mutation_p.T952A|GPR116_ENST00000456426.2_Missense_Mutation_p.T810A|GPR116_ENST00000265417.7_Missense_Mutation_p.T952A	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	952	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T952A(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ACACACTTCGTTTCGCCGCCT	0.488000													36	130					0	0	0.069456	0	0
FAT3	120114	broad.mit.edu	37	11	92531657	92531657	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:92531657G>T	ENST00000298047.6	+	9	5495	c.5478G>T	c.(5476-5478)gtG>gtT	p.V1826V	FAT3_ENST00000409404.2_Silent_p.V1826V|FAT3_ENST00000525166.1_Silent_p.V1676V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1826	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1826V(4)		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)				TTTTCACGGTGGACTCCAGTA	0.488000										TCGA Ovarian(4;0.039)			16	31					2.32078e-09	2.94291e-09	0.024245	1	0
SMC3	9126	broad.mit.edu	37	10	112356170	112356170	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:112356170C>T	ENST00000361804.4	+	19	2104	c.1978C>T	c.(1978-1980)Cat>Tat	p.H660Y		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	660	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	p.H660Y(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CCAAGTCAGCCATCGGGGTGC	0.358000													32	112					0	0	0.045705	0	0
PIAS3	10401	broad.mit.edu	37	1	145578690	145578690	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:145578690C>T	ENST00000393045.2	+	3	586	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	PIAS3_ENST00000369298.1_Missense_Mutation_p.P131S|PIAS3_ENST00000369299.3_Missense_Mutation_p.P157S	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	166	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	p.P157S(2)|p.P166S(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCCCTCACACCCCAGCAAGT	0.527000													23	187					0	0	0.076483	0	0
PILRA	29992	broad.mit.edu	37	7	99971855	99971855	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:99971855A>T	ENST00000198536.2	+	2	465	c.253A>T	c.(253-255)Agg>Tgg	p.R85W	PILRA_ENST00000474013.1_3'UTR|PILRA_ENST00000394000.2_Missense_Mutation_p.R85W|PILRA_ENST00000350573.2_Missense_Mutation_p.R85W|PILRA_ENST00000453419.1_Missense_Mutation_p.R85W	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	85	Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	p.R85W(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTACAGCACAAGGCCGCCTTC	0.552000													81	101					0	0	0.048971	0	0
C2CD3	26005	broad.mit.edu	37	11	73768561	73768561	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:73768561C>T	ENST00000334126.7	-	25	5206	c.4980G>A	c.(4978-4980)tcG>tcA	p.S1660S	C2CD3_ENST00000313663.7_Silent_p.S1660S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1660	C2 2.					centrosome		p.S1660S(4)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AACTGGGTATCGATACTTTCC	0.448000													12	96					0	0	0.080935	0	0
GLP2R	9340	broad.mit.edu	37	17	9757860	9757860	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:9757860G>T	ENST00000262441.5	+	5	1066	c.553G>T	c.(553-555)Gga>Tga	p.G185*	GLP2R_ENST00000574745.1_Nonsense_Mutation_p.G5*	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	185					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.G185*(2)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GTACACCGTGGGATACTCCTT	0.517000													80	288					7.14593e-30	1.31331e-29	0.048971	1	0
RASAL2	9462	broad.mit.edu	37	1	178252789	178252789	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:178252789C>T	ENST00000448150.3	+	2	1057	c.239C>T	c.(238-240)aCa>aTa	p.T80I	RASAL2_ENST00000367649.3_Missense_Mutation_p.T98I|RASAL2_ENST00000465723.1_3'UTR	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.T80L(2)|p.T98L(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGCATCCTCACAGACAGCCAG	0.463000													22	202					0	0	0.099896	0	0
OLFM4	10562	broad.mit.edu	37	13	53624298	53624298	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:53624298C>A	ENST00000219022.2	+	5	1003	c.925C>A	c.(925-927)Ctg>Atg	p.L309M		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	309	Olfactomedin-like.				cell adhesion	extracellular space		p.L309M(2)		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)		GTACAACACACTGGATGATTT	0.433000													42	112					1.59361e-14	2.33672e-14	0.092188	1	0
ATPAF1	64756	broad.mit.edu	37	1	47131032	47131032	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:47131032C>A	ENST00000576409.1	-	2	402	c.340G>T	c.(340-342)Gac>Tac	p.D114Y	EFCAB14_ENST00000544071.1_Missense_Mutation_p.Q375H|ATPAF1_ENST00000574428.1_Missense_Mutation_p.D91Y|ATPAF1_ENST00000532925.1_Missense_Mutation_p.D3Y|ATPAF1_ENST00000525633.1_5'UTR|ATPAF1_ENST00000329231.4_Missense_Mutation_p.D114Y|ATPAF1_ENST00000371937.4_Missense_Mutation_p.D91Y|ATPAF1_ENST00000542495.1_5'UTR			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	91					protein complex assembly	mitochondrion	protein binding	p.D91Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GCAGCTGGGTCTGACCTGATC	0.463000													7	67					8.12818e-05	8.91478e-05	0.029380	1	0
MUC16	94025	broad.mit.edu	37	19	9069492	9069492	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:9069492C>A	ENST00000397910.4	-	3	18157	c.17954G>T	c.(17953-17955)aGt>aTt	p.S5985I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5987	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S5985I(4)|p.S1618I(2)		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						GCTACTTGCACTTGGTAAGGA	0.478000													26	176					1.38267e-23	2.35054e-23	0.108266	1	0
CECR5	27440	broad.mit.edu	37	22	17630516	17630516	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:17630516C>G	ENST00000336737.4	-	2	271	c.246G>C	c.(244-246)cgG>cgC	p.R82R	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000480451.1_5'UTR|CECR5_ENST00000155674.5_Silent_p.R52R	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	82							hydrolase activity	p.R82R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CCACGGGCACCCGCAGCTGCC	0.587000													91	184					0	0	0.048971	0	0
OR8A1	390275	broad.mit.edu	37	11	124440930	124440930	+	Missense_Mutation	SNP	G	G	T	rs145520583		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:124440930G>T	ENST00000284287.3	+	1	1038	c.966G>T	c.(964-966)agG>agT	p.R322S		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R322S(2)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AAACGCTGAGGGGTAAACTGT	0.443000													21	66					5.26018e-13	7.53036e-13	0.062417	1	0
PRKCB	5579	broad.mit.edu	37	16	24166177	24166177	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:24166177T>A	ENST00000303531.7	+	10	1390	c.1239_splice	c.e10+1	p.M413_splice	PRKCB_ENST00000321728.7_Splice_Site_p.M413_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	413	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.M413N(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTCCAGACCATGGTAACTTGT	0.587000													23	21					0	0	0.069288	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33400564	33400564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:33400564C>T	ENST00000418600.2	+	5	591	c.490C>T	c.(490-492)Cga>Tga	p.R164*	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Nonsense_Mutation_p.R164*|SYNGAP1_ENST00000428982.2_Nonsense_Mutation_p.R105*	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	164	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	p.R149*(1)|p.R164*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GCCTCGCTTCCGAAGTGCTGA	0.547000													5	77					0	0	0.014758	0	0
IQUB	154865	broad.mit.edu	37	7	123105065	123105065	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:123105065T>A	ENST00000466202.1	-	10	2158		c.e10-2		IQUB_ENST00000434450.1_Splice_Site|IQUB_ENST00000324698.6_Splice_Site			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing									p.?(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTCATGTTCCTATATAAAACA	0.308000													102	74					0	0	0.048971	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664173	44664173	+	Splice_Site	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr20:44664173A>T	ENST00000454036.1	+	3	423	c.348_splice	c.e3+1	p.Q116_splice	SLC12A5_ENST00000243964.3_Splice_Site_p.Q93_splice|SLC12A5_ENST00000372315.1_Splice_Site_p.Q93_splice|SLC12A5_ENST00000539566.1_Splice_Site_p.Q93_splice	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	116					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.Q93L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGCCGGTGCAGGTGAGGACC	0.562000													28	65					0	0	0.037714	0	0
FAT2	2196	broad.mit.edu	37	5	150948412	150948412	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:150948412G>T	ENST00000261800.5	-	1	93	c.81C>A	c.(79-81)tcC>tcA	p.S27S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	27					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.S27S(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGAGGAGGAGAGAATCC	0.483000													55	91					9.57592e-29	1.73643e-28	0.048971	1	0
FBXO21	23014	broad.mit.edu	37	12	117604777	117604777	+	Silent	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:117604777T>A	ENST00000427718.2	-	8	1193	c.1119A>T	c.(1117-1119)gcA>gcT	p.A373A	FBXO21_ENST00000330622.5_Silent_p.A373A	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	373					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.A373A(2)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CATACAGTGCTGCAGTCACGT	0.478000													28	120					0	0	0.041601	0	0
S100A7	6278	broad.mit.edu	37	1	153430349	153430349	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:153430349C>A	ENST00000368723.3	-	3	349	c.239G>T	c.(238-240)gGa>gTa	p.G80V	S100A7_ENST00000368722.1_Missense_Mutation_p.G80V	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	80	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	p.G80V(2)		breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTATGTCTCCCAGCAAGGA	0.527000													25	136					1.1804e-14	1.74493e-14	0.091800	1	0
RASAL1	8437	broad.mit.edu	37	12	113553049	113553049	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:113553049G>C	ENST00000546530.1	-	12	1309	c.1024C>G	c.(1024-1026)Cgt>Ggt	p.R342G	RASAL1_ENST00000261729.5_Missense_Mutation_p.R342G|RASAL1_ENST00000548055.1_Missense_Mutation_p.R342G|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.R342G	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	342	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	p.R342G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GAGTTAGAACGGAAGAGGGTG	0.577000													65	148					0	0	0.048971	0	0
XKR7	343702	broad.mit.edu	37	20	30585000	30585000	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr20:30585000G>T	ENST00000217299.3	+	3	1654	c.1480G>T	c.(1480-1482)Ggg>Tgg	p.G494W		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	494						integral to membrane		p.G494W(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAGCGTGCAGGGACCCCCAC	0.692000													9	72					7.48243e-07	8.81048e-07	0.058154	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378427	31378427	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:31378427G>A	ENST00000297142.3	-	2	778	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	152					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.I152I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GTCTCTTGCCGATTCTCAGAA	0.458000													11	215					0	0	0.080935	0	0
LRRC6	23639	broad.mit.edu	37	8	133673737	133673737	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:133673737G>T	ENST00000519595.1	-	2	245	c.147C>A	c.(145-147)ctC>ctA	p.L49L	LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Silent_p.L49L|LRRC6_ENST00000250173.1_Silent_p.L49L			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	49						cytoplasm		p.L49L(2)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTTGAAGATAGAGAATTTTTA	0.358000													10	60					2.17888e-05	2.44899e-05	0.058154	1	0
NAALAD2	10003	broad.mit.edu	37	11	89891342	89891342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:89891342G>T	ENST00000534061.1	+	7	1056	c.826G>T	c.(826-828)Gga>Tga	p.G276*	NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Nonsense_Mutation_p.G276*	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	276	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.G276*(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGTTGAAGAAGGAGTGGGAAT	0.313000													85	185					9.29269e-31	1.73719e-30	0.048971	1	0
OR8B3	390271	broad.mit.edu	37	11	124266919	124266919	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:124266919G>T	ENST00000354597.3	-	1	345	c.329C>A	c.(328-330)tCt>tAt	p.S110Y		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S110Y(2)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GTAACATTCAGAGATGACAAA	0.383000													31	48					2.49534e-26	4.32315e-26	0.045705	1	0
ADCY4	196883	broad.mit.edu	37	14	24802138	24802138	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:24802138G>C	ENST00000310677.4	-	3	329	c.216C>G	c.(214-216)ttC>ttG	p.F72L	ADCY4_ENST00000418030.2_Missense_Mutation_p.F72L|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000554068.2_Missense_Mutation_p.F72L|ADCY4_ENST00000558563.1_5'UTR|RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.L139V	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	72					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|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	p.F72L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCAGCAGCGAGAAGCCGCCCA	0.672000											OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	44					0	0	0.024245	0	0
IL12RB2	3595	broad.mit.edu	37	1	67833708	67833708	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:67833708G>T	ENST00000262345.1	+	10	2099	c.1459_splice	c.e10+1	p.E487_splice	IL12RB2_ENST00000371000.1_Splice_Site_p.E487_splice|IL12RB2_ENST00000544434.1_Splice_Site_p.E487_splice|IL12RB2_ENST00000541374.1_Splice_Site_p.E487_splice	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	487	Fibronectin type-III 4.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.E487*(2)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TCTGATTTCAGGTACCTAATT	0.502000													20	99					8.34094e-07	9.77903e-07	0.049695	1	0
SLC44A1	23446	broad.mit.edu	37	9	108127811	108127811	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:108127811G>T	ENST00000374720.3	+	11	1548	c.1301G>T	c.(1300-1302)cGc>cTc	p.R434L	SLC44A1_ENST00000374723.1_Missense_Mutation_p.R434L|SLC44A1_ENST00000374724.1_Missense_Mutation_p.R434L|SLC44A1_ENST00000343170.7_Missense_Mutation_p.R226L	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	434						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.R434L(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TCAGTAAATCGCCTTATTCGT	0.363000													16	88					6.31663e-08	7.67019e-08	0.024245	1	0
GUCY2F	2986	broad.mit.edu	37	X	108652325	108652325	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:108652325C>A	ENST00000218006.2	-	9	2155	c.1864G>T	c.(1864-1866)Gtg>Ttg	p.V622L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	622	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.V622L(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AATTCTGTCACAATGGCAAAC	0.408000													101	114					4.82855e-46	9.72864e-46	0.048971	1	0
MOXD1	26002	broad.mit.edu	37	6	132649636	132649636	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:132649636C>T	ENST00000367963.3	-	5	879	c.761G>A	c.(760-762)gGc>gAc	p.G254D	MOXD1_ENST00000336749.3_Missense_Mutation_p.G186D	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	254					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.G186D(2)|p.G254D(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GCACTCGTGGCCGGACTCCAG	0.517000													27	65					0	0	0.099896	0	0
MROH8	140699	broad.mit.edu	37	20	35737029	35737029	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr20:35737029T>C	ENST00000400441.3	-	23	2952	c.2953A>G	c.(2953-2955)Agg>Ggg	p.R985G	MROH8_ENST00000217333.8_Missense_Mutation_p.R814G|MROH8_ENST00000466091.1_5'UTR|MROH8_ENST00000441008.2_3'UTR					maestro heat-like repeat family member 8									p.R985G(2)									GTACCCATCCTCCTGAGCTCA	0.453000													3	10					0	0	0.009096	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883304	19883304	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:19883304G>T	ENST00000300571.2	-	2	1055	c.864C>A	c.(862-864)gcC>gcA	p.A288A	GPRC5B_ENST00000537135.1_Silent_p.A314A|GPRC5B_ENST00000535671.1_Silent_p.A288A|GPRC5B_ENST00000569847.1_Silent_p.A288A|GPRC5B_ENST00000569479.1_Silent_p.A288A	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	288								p.A288A(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCTCAGGGATGGCGTGGAAGA	0.637000													39	40					6.19805e-25	1.06364e-24	0.080422	1	0
OR51B5	282763	broad.mit.edu	37	11	5364170	5364170	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:5364170C>G	ENST00000300773.2	-	1	639	c.585G>C	c.(583-585)ctG>ctC	p.L195L	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L195L(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCTGGGTACAGTCGGTTGA	0.423000													71	121					0	0	0.048971	0	0
ZNF579	163033	broad.mit.edu	37	19	56090015	56090015	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:56090015C>A	ENST00000325421.4	-	2	1019	c.991G>T	c.(991-993)Gcg>Tcg	p.A331S		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	331	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A331T(1)|p.A331S(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		TTGCCCGCCGCGGGCAGCGGG	0.751000													7	15					1.58986e-06	1.84411e-06	0.069234	1	0
SELENBP1	8991	broad.mit.edu	37	1	151338093	151338093	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:151338093C>A	ENST00000435071.1	-	9	1260	c.798G>T	c.(796-798)ggG>ggT	p.G266G	SELENBP1_ENST00000447402.3_Silent_p.G268G|SELENBP1_ENST00000368868.5_Silent_p.G330G|SELENBP1_ENST00000426705.2_Silent_p.G372G			Q13228	SBP1_HUMAN	selenium binding protein 1	330					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	p.G330G(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCAGGTCCCCATGCAGCC	0.592000													158	210					8.174e-68	1.72351e-67	0.048971	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47422455	47422455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:47422455G>T	ENST00000404338.3	+	1	523	c.523G>T	c.(523-525)Gat>Tat	p.D175Y		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	175					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.D175Y(4)									TAGGAACTTTGATGACCAGCT	0.453000													10	74					0.000442599	0.000471182	0.058154	1	0
CCDC89	220388	broad.mit.edu	37	11	85396473	85396473	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:85396473T>A	ENST00000316398.3	-	1	847	c.701A>T	c.(700-702)cAg>cTg	p.Q234L		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	234						cytoplasm|nucleus		p.Q234L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTTGAGGGTCTGCAGCTGGCT	0.647000													19	101					0	0	0.091800	0	0
INHBB	3625	broad.mit.edu	37	2	121107308	121107308	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:121107308G>T	ENST00000295228.3	+	2	1128	c.1082G>T	c.(1081-1083)cGg>cTg	p.R361L		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	361					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	p.R361L(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TACCGCATGCGGGGTCTGAAC	0.607000													35	75					3.86903e-22	6.37804e-22	0.054565	1	0
TRIML1	339976	broad.mit.edu	37	4	189068316	189068316	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:189068316C>A	ENST00000332517.3	+	6	1337	c.1197C>A	c.(1195-1197)caC>caA	p.H399Q	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	399	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.H399Q(3)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGGTCAGCACGTCAGAGAGC	0.488000													74	161					2.51111e-31	4.72679e-31	0.048971	1	0
TLCD1	116238	broad.mit.edu	37	17	27051724	27051724	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:27051724C>A	ENST00000292090.3	-	4	658	c.548G>T	c.(547-549)cGc>cTc	p.R183L	TLCD1_ENST00000394933.3_Missense_Mutation_p.R136L	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	183	TLC.					integral to membrane		p.R183L(2)		breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					AGGGGCCAGGCGGAAGAGAAA	0.517000													35	181					4.3181e-19	6.86856e-19	0.054565	1	0
CASC3	22794	broad.mit.edu	37	17	38318060	38318060	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:38318060G>A	ENST00000264645.7	+	4	578	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	118					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	p.E118K(2)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCTGAAATCAGAAGCTAATGA	0.438000													44	84					0	0	0.111260	0	0
HDAC9	9734	broad.mit.edu	37	7	18688221	18688221	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:18688221C>G	ENST00000406451.3	+	11	1523	c.1373C>G	c.(1372-1374)aCg>aGg	p.T458R	HDAC9_ENST00000405010.3_Missense_Mutation_p.T458R|HDAC9_ENST00000406072.1_Missense_Mutation_p.T445R|HDAC9_ENST00000428307.2_Missense_Mutation_p.T414R|HDAC9_ENST00000456174.2_Missense_Mutation_p.T430R|HDAC9_ENST00000441542.2_Missense_Mutation_p.T461R|HDAC9_ENST00000417496.2_Missense_Mutation_p.T456R|HDAC9_ENST00000432645.2_Missense_Mutation_p.T458R|HDAC9_ENST00000401921.1_Missense_Mutation_p.T417R|HDAC9_ENST00000524023.1_Missense_Mutation_p.T381R	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	458					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.T461R(4)|p.T456R(2)|p.T458R(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTCAGAGCACGTTGGCTCAG	0.507000													58	139					0	0	0.048971	0	0
FBN3	84467	broad.mit.edu	37	19	8183790	8183790	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:8183790C>G	ENST00000600128.1	-	26	3742	c.3328G>C	c.(3328-3330)Gcc>Ccc	p.A1110P	FBN3_ENST00000270509.2_Missense_Mutation_p.A1110P|FBN3_ENST00000601739.1_Missense_Mutation_p.A1110P			Q75N90	FBN3_HUMAN	fibrillin 3	1110	EGF-like 14; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.A1110P(2)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCTCACAGGCAGTGCCCTTG	0.587000													16	112					0	0	0.038395	0	0
SF3B1	23451	broad.mit.edu	37	2	198266709	198266709	+	Splice_Site	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:198266709C>G	ENST00000335508.5	-	15	2314	c.2223_splice	c.e15+1	p.K741_splice		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	741					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.K741N(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTGGATTTACCTTTCCTCTGT	0.343000			Mis		myelodysplastic syndrome								25	41					0	0	0.099896	0	0
PHRF1	57661	broad.mit.edu	37	11	608329	608329	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:608329G>C	ENST00000264555.5	+	14	3001	c.2873G>C	c.(2872-2874)cGg>cCg	p.R958P	PHRF1_ENST00000533464.1_Missense_Mutation_p.R954P|PHRF1_ENST00000416188.2_Missense_Mutation_p.R957P|PHRF1_ENST00000413872.2_Missense_Mutation_p.R956P	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	958							RNA polymerase binding|zinc ion binding	p.R958P(1)|p.R963P(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCTGAGGAGCGGACGGTGACC	0.692000													8	11					0	0	0.047766	0	0
AKR7L	246181	broad.mit.edu	37	1	19595787	19595787	+	RNA	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:19595787C>G	ENST00000420396.2	-	0	507				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GATCTCTGCCCACTGAGTCCC	0.587000													6	63					0	0	0.021553	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077218	19077218	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:19077218G>C	ENST00000329773.2	-	2	819	c.732C>G	c.(730-732)ttC>ttG	p.F244L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	244					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.F244L(2)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ATAATATTAGGAACCACTGAA	0.502000													13	86					0	0	0.105934	0	0
NEK10	152110	broad.mit.edu	37	3	27329206	27329206	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:27329206T>A	ENST00000429845.2	-	21	2134	c.1772A>T	c.(1771-1773)tAc>tTc	p.Y591F	NEK10_ENST00000357467.2_5'UTR|NEK10_ENST00000341435.5_Missense_Mutation_p.Y591F			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	591	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Y591F(3)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAATGTTTTGTAATAACGTAC	0.264000													4	40					0	0	0.021553	0	0
MGAM	8972	broad.mit.edu	37	7	141755521	141755521	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:141755521C>A	ENST00000475668.2	+	28	3532	c.3478C>A	c.(3478-3480)Cca>Aca	p.P1160T	MGAM_ENST00000549489.2_Missense_Mutation_p.P1160T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1160	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1160T(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACCAGCCCCCAGGGGTAAG	0.547000													51	57					5.13769e-22	8.44381e-22	0.048971	1	0
PPIG	9360	broad.mit.edu	37	2	170493475	170493475	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:170493475G>T	ENST00000260970.3	+	14	1927	c.1707G>T	c.(1705-1707)agG>agT	p.R569S	PPIG_ENST00000448752.2_Missense_Mutation_p.R569S|PPIG_ENST00000409714.3_Missense_Mutation_p.R554S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	569	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R569T(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GCAGAAGTAGGGACAGAAGCA	0.438000													8	55					0.000274275	0.00029256	0.047766	1	0
KRT28	162605	broad.mit.edu	37	17	38950232	38950232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:38950232G>A	ENST00000306658.7	-	6	1110	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	349	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.Q349*(2)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				ATCTGAGCCTGGATCTGCGCC	0.582000													149	167					0	0	0.048971	0	0
FBN2	2201	broad.mit.edu	37	5	127686687	127686687	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:127686687C>A	ENST00000508053.1	-	27	3659	c.2685G>T	c.(2683-2685)aaG>aaT	p.K895N	FBN2_ENST00000508989.1_Missense_Mutation_p.K862N|FBN2_ENST00000262464.4_Missense_Mutation_p.K895N			P35556	FBN2_HUMAN	fibrillin 2	895					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.K895N(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AACAGGTCCCCTTCAGGCTGT	0.493000													50	62					4.01344e-20	6.4595e-20	0.048971	1	0
HUS1B	135458	broad.mit.edu	37	6	656317	656317	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:656317G>A	ENST00000380907.2	-	1	646	c.628C>T	c.(628-630)Cct>Tct	p.P210S	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	210								p.P210S(2)		endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GACTGGGGAGGGTTTCCAAGA	0.517000													73	251					0	0	0.048971	0	0
CYP2A6	1548	broad.mit.edu	37	19	41351932	41351932	+	Missense_Mutation	SNP	C	C	G	rs60823196		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:41351932C>G	ENST00000301141.5	-	6	922	c.902G>C	c.(901-903)gGg>gCg	p.G301A	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	301					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CTCGGTGCCCCCAATGAAGAG	0.582000													4	108					0	0	0.014758	0	0
MYH6	4624	broad.mit.edu	37	14	23863047	23863047	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:23863047G>A	ENST00000405093.3	-	22	2826	c.2756C>T	c.(2755-2757)gCc>gTc	p.A919V	MYH6_ENST00000356287.3_Missense_Mutation_p.A919V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	919					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.A919V(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTTACTTTGGCCTCCAGCTG	0.527000													40	118					0	0	0.092188	0	0
ATPIF1	93974	broad.mit.edu	37	1	28564412	28564412	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:28564412A>C	ENST00000335514.5	+	3	295	c.244A>C	c.(244-246)Aag>Cag	p.K82Q	ATPIF1_ENST00000468425.2_Intron|ATPIF1_ENST00000465645.1_3'UTR|ATPIF1_ENST00000497986.1_3'UTR	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	82					angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity	p.K82Q(2)		lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CGTTCATCATAAGAAGGAGAT	0.408000													28	49					0	0	0.099896	0	0
ACE2	59272	broad.mit.edu	37	X	15607507	15607507	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:15607507C>G	ENST00000427411.1	-	6	872	c.656G>C	c.(655-657)cGc>cCc	p.R219P	ACE2_ENST00000252519.3_Missense_Mutation_p.R219P	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	219					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	p.R219P(2)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CAACTGGCCGCGGCTGTAGTC	0.423000													47	183					0	0	0.048971	0	0
ZNF702P	79986	broad.mit.edu	37	19	53472546	53472546	+	RNA	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:53472546C>T	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							CTTCATTATGCATTCTCCAAT	0.358000													7	6					0	0	0.038147	0	0
ADH7	131	broad.mit.edu	37	4	100340162	100340162	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:100340162C>A	ENST00000437033.2	-	7	1445	c.942G>T	c.(940-942)tgG>tgT	p.W314C	ADH7_ENST00000476959.1_Missense_Mutation_p.W334C|ADH7_ENST00000482593.1_Missense_Mutation_p.W257C|ADH7_ENST00000209665.4_Missense_Mutation_p.W326C			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	326					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	p.W326C(2)|p.W334C(2)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CACATCCCTTCCATGTGCGTC	0.537000													38	122					5.71845e-15	8.52284e-15	0.080422	1	0
SORCS2	57537	broad.mit.edu	37	4	7677859	7677859	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:7677859A>T	ENST00000507866.2	+	9	1353	c.1244A>T	c.(1243-1245)tAc>tTc	p.Y415F	SORCS2_ENST00000329016.9_Missense_Mutation_p.Y243F	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	415						integral to membrane	neuropeptide receptor activity	p.Y265F(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TACAACCTGTACCAGTCGGAC	0.637000													3	3					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41049236	41049236	+	Silent	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:41049236A>G	ENST00000399564.4	-	15	1959	c.1509T>C	c.(1507-1509)ctT>ctC	p.L503L	MROH2B_ENST00000506092.2_Silent_p.L58L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.L503L(1)									GTGGTGAAGGAAGTTTCACTA	0.418000													10	69					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390454	158390454	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:158390454C>A	ENST00000314902.2	-	1	202	c.203G>T	c.(202-204)tGc>tTc	p.C68F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C68F(2)		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)					AATCTCAGAGCAAGAGAGGAT	0.488000													150	902					4.21061e-56	7.82607e-56	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20976235	20976235	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:20976235G>A	ENST00000261383.3	-	53	8970	c.8971C>T	c.(8971-8973)Cgc>Tgc	p.R2991C	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2991					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2991C(4)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTAGTATAGCGGATCCCCAGC	0.532000													167	101					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202436	56202436	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:56202436C>A	ENST00000361673.3	-	5	5196	c.4983G>T	c.(4981-4983)gaG>gaT	p.E1661D		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1661							ATP binding|protein serine/threonine kinase activity	p.E1022D(2)|p.E1661D(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTTCTCTAACTCACGTTCTC	0.498000													48	220					5.73332e-34	9.6349e-34	1	1	0
FRMD4A	55691	broad.mit.edu	37	10	13782541	13782541	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:13782541G>A	ENST00000357447.2	-	10	953	c.585C>T	c.(583-585)aaC>aaT	p.N195N	FRMD4A_ENST00000378503.1_Silent_p.N195N|RP11-353M9.1_ENST00000449462.1_RNA|FRMD4A_ENST00000358621.4_Silent_p.N180N|FRMD4A_ENST00000342409.2_Silent_p.N211N	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	195	FERM.					cytoplasm|cytoskeleton	binding	p.N195N(2)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TTGTCTGACCGTTCAGTTTCT	0.443000													61	186					0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197890725	197890725	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:197890725G>T	ENST00000367390.3	+	4	669	c.642G>T	c.(640-642)caG>caT	p.Q214H	LHX9_ENST00000367387.4_Missense_Mutation_p.Q223H|LHX9_ENST00000367391.1_Missense_Mutation_p.Q214H|LHX9_ENST00000561173.1_Missense_Mutation_p.Q229H|LHX9_ENST00000337020.2_Missense_Mutation_p.Q223H	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	223					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.Q223H(2)|p.Q214H(2)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCACCGTGCAGAAAGGGCGGC	0.652000													8	14					4.68919e-08	5.36199e-08	1	1	0
NRAP	4892	broad.mit.edu	37	10	115410292	115410292	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:115410292C>T	ENST00000369358.4	-	8	932	c.688G>A	c.(688-690)Gag>Aag	p.E230K	NRAP_ENST00000360478.3_Missense_Mutation_p.E230K|NRAP_ENST00000369360.3_Missense_Mutation_p.E230K|NRAP_ENST00000359988.3_Missense_Mutation_p.E230K			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	230						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.E230K(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCATAGTCCTCTGTGTATCTC	0.448000													53	81					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46496817	46496817	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:46496817C>A	ENST00000231751.4	-	5	910	c.615G>T	c.(613-615)caG>caT	p.Q205H	LTF_ENST00000426532.2_Missense_Mutation_p.Q161H|LTF_ENST00000417439.1_Missense_Mutation_p.Q205H	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	205	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.Q205_E206>H*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AGTACGGTTCCTGGGAGGAGA	0.582000													36	104					2.26627e-22	3.3391e-22	1	1	0
CCDC39	339829	broad.mit.edu	37	3	180378459	180378459	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:180378459C>A	ENST00000273654.4	-	10	1286	c.667G>T	c.(667-669)Gac>Tac	p.D223Y	CCDC39_ENST00000442201.2_Missense_Mutation_p.D139Y			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	139					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.D223Y(1)|p.D139Y(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GCTTGCTGGTCCCAGTTCATT	0.378000													5	43					3.59834e-05	3.90253e-05	1	1	0
ASMTL	8623	broad.mit.edu	37	X	1561078	1561078	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:1561078C>A	ENST00000534940.1	-	2	277		c.e2+1		ASMTL_ENST00000381317.3_Splice_Site|ASMTL_ENST00000381333.4_Splice_Site|ASMTL_ENST00000416733.2_Splice_Site	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like						melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	p.?(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGCCCCTTGCCTGGTACAGC	0.527000													23	68					1.02151e-06	1.15304e-06	1	1	0
FLNC	2318	broad.mit.edu	37	7	128486498	128486498	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:128486498C>A	ENST00000325888.8	+	23	4369	c.4108C>A	c.(4108-4110)Cga>Aga	p.R1370R	FLNC_ENST00000346177.6_Silent_p.R1370R	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1370					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.R1370R(2)		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						CAAGGCCAACCGATTCACTGT	0.642000													21	26					1.13719e-10	1.36256e-10	1	1	0
CYFIP2	26999	broad.mit.edu	37	5	156731349	156731349	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:156731349C>G	ENST00000347377.6	+	8	1201	c.770C>G	c.(769-771)cCc>cGc	p.P257R	CYFIP2_ENST00000541131.1_Missense_Mutation_p.P182R|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000521420.1_Missense_Mutation_p.P231R|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.P257R|CYFIP2_ENST00000318218.6_Missense_Mutation_p.P257R	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	257					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	p.P257R(6)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TACCTGACTCCCAGTGAGAAA	0.488000													34	263					0	0	1	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938031	116938031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:116938031C>A	ENST00000229554.5	+	1	382	c.245C>A	c.(244-246)cCt>cAt	p.P82H	RSPH4A_ENST00000368581.4_Missense_Mutation_p.P82H|RSPH4A_ENST00000368580.4_Missense_Mutation_p.P82H	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	82					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.P82H(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACATCATCACCTGCTCCTGTC	0.652000									Kartagener syndrome				26	34					8.16721e-17	1.10436e-16	1	1	0
GMFG	9535	broad.mit.edu	37	19	39819649	39819649	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:39819649C>A	ENST00000598034.1	-	6	377	c.348G>T	c.(346-348)gaG>gaT	p.E116D	GMFG_ENST00000597595.1_Missense_Mutation_p.E116D|GMFG_ENST00000595636.1_3'UTR|GMFG_ENST00000253054.8_Missense_Mutation_p.E83D|GMFG_ENST00000601387.1_Missense_Mutation_p.E75D|GMFG_ENST00000600322.1_Missense_Mutation_p.E83D|GMFG_ENST00000602185.1_Missense_Mutation_p.E67D|GMFG_ENST00000594700.1_Intron			O60234	GMFG_HUMAN	glia maturation factor, gamma	116	ADF-H.				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity	p.E116D(2)		breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCTTTGTGAGCTCTGCTGTCT	0.552000													31	63					8.16904e-11	9.83276e-11	1	1	0
RASAL2	9462	broad.mit.edu	37	1	178252788	178252788	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:178252788A>T	ENST00000448150.3	+	2	1056	c.238A>T	c.(238-240)Aca>Tca	p.T80S	RASAL2_ENST00000367649.3_Missense_Mutation_p.T98S|RASAL2_ENST00000465723.1_3'UTR	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.T80L(2)|p.T98L(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTGCATCCTCACAGACAGCCA	0.463000													127	792					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18844354	18844354	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:18844354C>A	ENST00000446231.2	-	51	9112	c.8700G>T	c.(8698-8700)ctG>ctT	p.L2900L	SMG1_ENST00000389467.3_Silent_p.L2900L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2900					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.L2896L(2)|p.L2900L(2)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTAGAGTCTGCAGGGGAACGC	0.468000													589	539					2.10972e-183	4.60463e-183	1	1	0
IGKV4-1	28908	broad.mit.edu	37	2	89185128	89185128	+	RNA	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:89185128G>C	ENST00000390243.2	+	0	216																											CTGTTGCTCTGGATCTCTGGT	0.398000													63	394					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632739	32632739	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:32632739G>A	ENST00000242310.4	-	1	2928	c.2839C>T	c.(2839-2841)Cac>Tac	p.H947Y		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	947					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.H947Y(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAGCAGCGTGAACTTCATCA	0.493000													40	229					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120952514	120952514	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:120952514T>C	ENST00000273666.6	+	12	1434	c.1163T>C	c.(1162-1164)gTa>gCa	p.V388A	STXBP5L_ENST00000497029.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000471454.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000492541.1_Missense_Mutation_p.V388A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	388					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.V388A(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GATCTCATTGTAGTTGATCTG	0.284000													36	137					0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460697	1460697	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr20:1460697C>A	ENST00000359801.3	-	2	135	c.99G>T	c.(97-99)caG>caT	p.Q33H	SIRPB2_ENST00000381630.1_Missense_Mutation_p.Q33H|SIRPB2_ENST00000444444.1_Missense_Mutation_p.Q33H|SIRPB2_ENST00000537284.1_5'UTR	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	33	Ig-like V-type 1.					integral to membrane		p.Q33H(2)|p.Q132H(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCTGCTGCTCTGCCCAGAGG	0.527000													22	36					6.05902e-23	9.10584e-23	1	1	0
PHF14	9678	broad.mit.edu	37	7	11068363	11068363	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:11068363G>T	ENST00000403050.3	+	7	1825	c.1373G>T	c.(1372-1374)tGt>tTt	p.C458F	PHF14_ENST00000445996.2_Missense_Mutation_p.C173F	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	458							zinc ion binding	p.C458F(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGCATTAGCTGTGATGCAGGG	0.448000													85	222					8.34767e-46	1.4834e-45	1	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140711062	140711062	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:140711062G>A	ENST00000517417.1	+	1	811	c.811G>A	c.(811-813)Gag>Aag	p.E271K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E271K	NM_018912.2	NP_061735.1												p.E271K(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCCTGATGAGGGAGCCAA	0.448000													4	63					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61886919	61886919	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:61886919G>T	ENST00000578681.1	+	12	1753		c.e12-1		DDX42_ENST00000583590.1_Splice_Site|DDX42_ENST00000359353.5_Splice_Site|DDX42_ENST00000457800.2_Splice_Site|DDX42_ENST00000389924.2_Splice_Site	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.?(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TGATCTTATAGGGTCGACTGA	0.378000													9	188					4.68919e-08	5.36199e-08	1	1	0
OR10R2	343406	broad.mit.edu	37	1	158450337	158450337	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:158450337G>T	ENST00000368152.1	+	1	670	c.670G>T	c.(670-672)Gtt>Ttt	p.V224F	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V224F(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CATTTGTGGAGTTCTTGTACT	0.423000													160	261					2.72223e-112	5.77377e-112	1	1	0
MCTP1	79772	broad.mit.edu	37	5	94224666	94224666	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:94224666C>A	ENST00000515393.1	-	12	1850	c.1851G>T	c.(1849-1851)agG>agT	p.R617S	MCTP1_ENST00000505208.1_Missense_Mutation_p.R396S|MCTP1_ENST00000429576.2_Missense_Mutation_p.R350S|MCTP1_ENST00000312216.8_Missense_Mutation_p.R396S|MCTP1_ENST00000505078.1_Missense_Mutation_p.R133S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	617	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.R617S(2)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGTGAAATATCCTCAATGGGC	0.423000													95	85					2.12868e-59	4.02764e-59	1	1	0
SEC16A	9919	broad.mit.edu	37	9	139371251	139371251	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:139371251C>A	ENST00000313050.7	-	1	890	c.817G>T	c.(817-819)Gca>Tca	p.A273S	SEC16A_ENST00000431893.2_Missense_Mutation_p.A95S|SEC16A_ENST00000371706.3_Missense_Mutation_p.A95S|SEC16A_ENST00000290037.6_Missense_Mutation_p.A95S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	95					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.A273S(4)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCAAGGCTGCTGGGGGAGCC	0.587000													3	5					0.150653	0.15094	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129635943	129635943	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:129635943G>T	ENST00000421865.2	+	24	3604	c.3555_splice	c.e24+1	p.W1185_splice		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1185	Laminin IV type A 2.				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	p.W1185F(2)		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)		TCCGGACGTGGGTGAGTAGGG	0.483000													59	92					1.43987e-31	2.3448e-31	1	1	0
GPR128	84873	broad.mit.edu	37	3	100373932	100373932	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:100373932G>A	ENST00000273352.3	+	12	1901	c.1633G>A	c.(1633-1635)Gca>Aca	p.A545T	GPR128_ENST00000475887.1_Missense_Mutation_p.A250T|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	545					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A545T(2)		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						TACCTGGAACGCACTCAGCGC	0.458000													111	534					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15492159	15492159	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:15492159T>A	ENST00000281513.5	-	35	4161	c.4136A>T	c.(4135-4137)gAa>gTa	p.E1379V	NBAS_ENST00000441750.1_Missense_Mutation_p.E1259V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1379								p.E1379V(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTGATATTTTCCCCTCCTTC	0.368000													54	278					0	0	1	0	0
BRE	9577	broad.mit.edu	37	2	28521252	28521252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:28521252C>T	ENST00000344773.2	+	11	1120	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	BRE_ENST00000379624.1_Nonsense_Mutation_p.Q328*|BRE_ENST00000342045.2_Nonsense_Mutation_p.Q328*|BRE_ENST00000361704.2_Nonsense_Mutation_p.Q328*|BRE_ENST00000379632.2_Nonsense_Mutation_p.Q328*	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	328	UEV-like 2.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.Q328*(9)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TCTCACATTTCAGTCCGTTTA	0.428000													257	435					0	0	1	0	0
IFNA7	3444	broad.mit.edu	37	9	21202067	21202067	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:21202067C>A	ENST00000239347.3	-	1	137	c.98G>T	c.(97-99)cGt>cTt	p.R33L		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	33					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.R33L(2)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCTCCTATTACGCAGGCTGTG	0.507000													44	226					4.86159e-25	7.39075e-25	1	1	0
LRRC66	339977	broad.mit.edu	37	4	52861722	52861722	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:52861722C>T	ENST00000343457.3	-	4	1472	c.1466G>A	c.(1465-1467)gGa>gAa	p.G489E		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	489						integral to membrane		p.G489E(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCCGCACTGTCCTGGGCTCTG	0.547000													127	270					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95088804	95088804	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:95088804G>T	ENST00000553947.1	+	7	2007	c.1119G>T	c.(1117-1119)ggG>ggT	p.G373G	SERPINA3_ENST00000482740.1_Silent_p.G130G|SERPINA3_ENST00000393078.3_Silent_p.G348G|SERPINA3_ENST00000467132.1_Silent_p.G348G|SERPINA3_ENST00000556388.1_3'UTR|SERPINA3_ENST00000393080.4_Silent_p.G348G			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	348	RCL.				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.G348G(2)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GGATCACAGGGGCCAGGAACC	0.502000													21	30					5.26018e-13	6.5721e-13	1	1	0
FUBP1	8880	broad.mit.edu	37	1	78422351	78422351	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:78422351C>A	ENST00000370767.1	-	17	1698	c.1611G>T	c.(1609-1611)tgG>tgT	p.W537C	FUBP1_ENST00000436586.2_Missense_Mutation_p.W558C|FUBP1_ENST00000370768.2_Missense_Mutation_p.W537C			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	537	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.W537C(2)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATAAGCAGCCCAAGCTGCTG	0.453000			"""F, N"""		oligodendroglioma								93	422					3.77761e-39	6.53627e-39	1	1	0
ZNF99	7652	broad.mit.edu	37	19	22941575	22941575	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:22941575C>G	ENST00000397104.3	-	5	862	c.863G>C	c.(862-864)aGc>aCc	p.S288T	ZNF99_ENST00000596209.1_Missense_Mutation_p.S379T					zinc finger protein 99									p.S288T(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGACAAATTGCTAAAAGCTTT	0.373000													25	113					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21014281	21014281	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:21014281G>A	ENST00000247986.2	-	8	1848	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.S413F|KIF17_ENST00000400463.3_Missense_Mutation_p.S513F			Q9P2E2	KIF17_HUMAN	kinesin family member 17	513					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.S513F(2)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTGAGTCTTGGAGACATCGTC	0.542000													22	208					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482152	37482152	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:37482152C>A	ENST00000374660.1	+	33	2868	c.2769C>A	c.(2767-2769)gcC>gcA	p.A923A	ANKRD30A_ENST00000602533.1_Silent_p.A804A|ANKRD30A_ENST00000361713.1_Silent_p.A804A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	974						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A804A(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAACTAAAGCCTTAGAATTGA	0.279000													19	58					7.76418e-22	1.14077e-21	1	1	0
ATPIF1	93974	broad.mit.edu	37	1	28564414	28564414	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:28564414G>T	ENST00000335514.5	+	3	297	c.246G>T	c.(244-246)aaG>aaT	p.K82N	ATPIF1_ENST00000497986.1_3'UTR|ATPIF1_ENST00000468425.2_Intron|ATPIF1_ENST00000465645.1_3'UTR	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	82					angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity	p.K82N(2)		lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TTCATCATAAGAAGGAGATTG	0.418000													40	48					1.41504e-22	2.09075e-22	1	1	0
IQGAP1	8826	broad.mit.edu	37	15	90996394	90996394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr15:90996394G>T	ENST00000268182.5	+	13	1481	c.1357G>T	c.(1357-1359)Gca>Tca	p.A453S	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	453					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	p.A453S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCTCTCTGTCGCAGTGGAGAT	0.478000													56	413					5.10508e-28	8.01574e-28	1	1	0
FRAS1	80144	broad.mit.edu	37	4	79296926	79296926	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:79296926G>T	ENST00000264895.6	+	26	3625	c.3185G>T	c.(3184-3186)aGg>aTg	p.R1062M	FRAS1_ENST00000325942.6_Missense_Mutation_p.R1062M	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1061					cell communication	integral to membrane|plasma membrane	metal ion binding	p.R1062I(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCAGCCACAGGGACCGTTGT	0.483000													14	34					8.60227e-14	1.09295e-13	1	1	0
OR6K2	81448	broad.mit.edu	37	1	158669653	158669653	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:158669653A>G	ENST00000359610.2	-	1	833	c.790T>C	c.(790-792)Tct>Cct	p.S264P		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S264P(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TAGGTGGCAGAGAAGCGTAGG	0.478000													193	193					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531706	42531706	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:42531706G>T	ENST00000282030.5	+	4	2697	c.2401G>T	c.(2401-2403)Gag>Tag	p.E801*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	801						nucleus	DNA binding	p.E801*(2)|p.E747*(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAATTTTTCAGAGTTGAAAAC	0.498000									Schinzel-Giedion syndrome				69	146					2.1672e-28	3.42326e-28	1	1	0
OR4A5	81318	broad.mit.edu	37	11	51412283	51412283	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:51412283A>T	ENST00000319760.6	-	1	165	c.113T>A	c.(112-114)gTg>gAg	p.V38E		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V38E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAGGTTCCCCACCACTGTCAC	0.428000													107	119					0	0	1	0	0
GOT1L1	137362	broad.mit.edu	37	8	37794885	37794885	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:37794885G>T	ENST00000307599.4	-	4	528	c.429C>A	c.(427-429)ttC>ttA	p.F143L		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	143					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	p.F143L(4)		central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CCATGTCCTGGAAGACGAGTC	0.542000													10	16					5.16669e-11	6.24753e-11	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48618353	48618353	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:48618353G>T	ENST00000328333.8	-	53	5049	c.4942C>A	c.(4942-4944)Ccg>Acg	p.P1648T	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1648T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1648	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.P1648T(2)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCAAACCCGGGTCACCCTGG	0.557000													5	9					0.0215528	0.0219705	1	1	0
OR4C13	283092	broad.mit.edu	37	11	49974443	49974443	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:49974443C>A	ENST00000555099.1	+	1	501	c.469C>A	c.(469-471)Cag>Aag	p.Q157K		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q157K(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGCAACCATACAGATCCTCTT	0.443000													304	386					8.09367e-118	1.73766e-117	1	1	0
TECTA	7007	broad.mit.edu	37	11	120983847	120983847	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:120983847G>C	ENST00000392793.1	+	5	824	c.553G>C	c.(553-555)Gaa>Caa	p.E185Q	TECTA_ENST00000264037.2_Missense_Mutation_p.E185Q			O75443	TECTA_HUMAN	tectorin alpha	185	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.E185Q(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAATTATTACGAAATCAACTG	0.572000											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	29					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1491645	1491645	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:1491645G>T	ENST00000345913.4	+	10	1741	c.1650G>T	c.(1648-1650)caG>caT	p.Q550H	TPO_ENST00000349624.3_Missense_Mutation_p.Q377H|TPO_ENST00000346956.3_Missense_Mutation_p.Q550H|TPO_ENST00000337415.3_Missense_Mutation_p.Q550H|TPO_ENST00000329066.4_Missense_Mutation_p.Q550H|TPO_ENST00000382198.1_Missense_Mutation_p.Q377H|TPO_ENST00000382201.3_Intron|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	550					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.Q550H(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCAAACTGCAGGTGCAGGATC	0.537000													4	64					2.56e-06	2.86502e-06	1	1	0
TKTL2	84076	broad.mit.edu	37	4	164394546	164394546	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:164394546G>T	ENST00000280605.3	-	1	501	c.341C>A	c.(340-342)cCc>cAc	p.P114H		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	114						cytoplasm	metal ion binding|transketolase activity	p.P114H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CGGCAATCGGGGGGTAGGGTG	0.532000													26	50					4.74835e-14	6.12165e-14	1	1	0
RYR3	6263	broad.mit.edu	37	15	34018617	34018617	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr15:34018617C>A	ENST00000389232.4	+	46	7013	c.6943C>A	c.(6943-6945)Cgc>Agc	p.R2315S	RYR3_ENST00000415757.3_Missense_Mutation_p.R2315S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2315	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2315S(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAGCCATCCGCATCAGGTC	0.552000													8	49					5.50884e-06	6.10031e-06	1	1	0
PPIG	9360	broad.mit.edu	37	2	170493474	170493474	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:170493474G>C	ENST00000260970.3	+	14	1926	c.1706G>C	c.(1705-1707)aGg>aCg	p.R569T	PPIG_ENST00000448752.2_Missense_Mutation_p.R569T|PPIG_ENST00000409714.3_Missense_Mutation_p.R554T	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	569	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R569T(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AGCAGAAGTAGGGACAGAAGC	0.433000													31	200					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86905119	86905119	+	Missense_Mutation	SNP	C	C	A	rs11568388		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:86905119C>A	ENST00000376238.4	-	11	1148	c.1099G>T	c.(1099-1101)Ggg>Tgg	p.G367W	SLC28A3_ENST00000537648.1_Missense_Mutation_p.G298W	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	367			G -> R (reduced transport of inosine and thymidine).		nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	p.G367W(2)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GTAGAGAACCCGGCGGTCATG	0.458000													40	168					8.77104e-35	1.47871e-34	1	1	0
SPON1	10418	broad.mit.edu	37	11	14284462	14284462	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:14284462C>A	ENST00000310358.7	+	0	2736				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	p.A733D(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TGGAGGGAGGCCCGAGAGAGC	0.582000													42	11					3.4345e-17	4.70455e-17	1	1	0
FAT4	79633	broad.mit.edu	37	4	126242381	126242381	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:126242381C>A	ENST00000394329.3	+	1	4828	c.4815C>A	c.(4813-4815)gaC>gaA	p.D1605E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1605	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D1605E(4)		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						CAGCAACAGACCTTGGGCCTG	0.433000													56	145					3.10202e-16	4.14127e-16	1	1	0
HAVCR2	84868	broad.mit.edu	37	5	156533775	156533775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:156533775C>A	ENST00000307851.4	-	2	987	c.257G>T	c.(256-258)gGg>gTg	p.G86V	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Missense_Mutation_p.G86V|HAVCR2_ENST00000517358.1_5'UTR	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	86	Ig-like V-type.					integral to membrane		p.G86V(2)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGGAAATCCCCATTTAGCCA	0.488000													243	688					1.64283e-88	3.40208e-88	1	1	0
MSH2	4436	broad.mit.edu	37	2	47656893	47656893	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:47656893G>T	ENST00000406134.1	+	7	1151	c.1089G>T	c.(1087-1089)gtG>gtT	p.V363V	MSH2_ENST00000233146.2_Silent_p.V363V|MSH2_ENST00000543555.1_Silent_p.V297V			P43246	MSH2_HUMAN	mutS homolog 2	363					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)|p.V363V(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAATTTAGTGGAAGCTTTTG	0.303000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	40					0.000442599	0.00047127	1	1	0
CARD16	114769	broad.mit.edu	37	11	104912157	104912157	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:104912157C>A	ENST00000375706.2	-	3	581	c.564G>T	c.(562-564)gaG>gaT	p.E188D	CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16									p.E188D(2)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						CAGTTTGCAACTCTTTACCTA	0.383000													39	99					6.27289e-28	9.82006e-28	1	1	0
BTN2A3P	54718	broad.mit.edu	37	6	26428332	26428332	+	RNA	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:26428332C>T	ENST00000466808.2	+	0	1301																											GTAAAAGAggccaggtatggt	0.463000													10	31					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755798	10755798	+	Silent	SNP	C	C	A	rs61745501	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:10755798C>A	ENST00000416569.2	-	3	1616	c.1590G>T	c.(1588-1590)gcG>gcT	p.A530A	XKR6_ENST00000304437.2_Silent_p.A251A	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	530						integral to membrane		p.A530A(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGATCTCAGGCGCCATGGGCT	0.612000													38	75					1.41504e-22	2.09075e-22	1	1	0
COL3A1	1281	broad.mit.edu	37	2	189849653	189849653	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:189849653G>A	ENST00000304636.3	+	2	417	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E83K	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	83	VWFC.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.E83K(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCATTTGGAGAATGTTGTGC	0.398000													6	73					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97052115	97052115	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:97052115T>C	ENST00000524981.3	+	5	804	c.804T>C	c.(802-804)taT>taC	p.Y268Y				Q6ZTY8	CL063_HUMAN		242								p.Y242Y(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGGCTGAATATGGAGAGAAGG	0.378000													52	322					0	0	1	0	0
SLC45A2	51151	broad.mit.edu	37	5	33954552	33954552	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:33954552G>A	ENST00000382102.3	-	4	1003	c.946C>T	c.(946-948)Cac>Tac	p.H316Y	SLC45A2_ENST00000342059.3_Missense_Mutation_p.H257Y|SLC45A2_ENST00000345083.5_Missense_Mutation_p.H208Y|SLC45A2_ENST00000509381.1_Missense_Mutation_p.S207L|SLC45A2_ENST00000296589.4_Missense_Mutation_p.H316Y	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	316					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.H316Y(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TAGCGGTAGTGAGGAGGCATG	0.478000													74	126					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51135683	51135683	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:51135683C>T	ENST00000338916.4	-	2	1167	c.534G>A	c.(532-534)ggG>ggA	p.G178G	SYT3_ENST00000600079.1_Silent_p.G178G|SYT3_ENST00000544769.1_Silent_p.G178G|SYT3_ENST00000593901.1_Silent_p.G178G	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	178						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.G178G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCGGTTTGACCCCAGCGGCCA	0.667000													4	8					0	0	1	0	0
GPR12	2835	broad.mit.edu	37	13	27333071	27333071	+	Silent	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:27333071A>G	ENST00000405846.3	-	2	1115	c.894T>C	c.(892-894)ccT>ccC	p.P298P	GPR12_ENST00000381436.2_Silent_p.P298P	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	298						integral to plasma membrane		p.P298P(2)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CATATATGACAGGGTTGATGA	0.542000													10	55					0	0	1	0	0
RPL17-C18orf32	100526842	broad.mit.edu	37	18	47015750	47015750	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:47015750C>A	ENST00000584895.1	-	5	500	c.486G>T	c.(484-486)gaG>gaT	p.E162D	MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000418495.1_Missense_Mutation_p.E162D|RPL17_ENST00000581373.1_Missense_Mutation_p.E124D|RPL17_ENST00000581091.1_5'UTR|RPL17_ENST00000580210.1_Missense_Mutation_p.E152D|RPL17_ENST00000579248.1_Missense_Mutation_p.E162D|RPL17_ENST00000580261.1_Missense_Mutation_p.E162D|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.E124D|RPL17_ENST00000579408.1_Missense_Mutation_p.E162D	NM_001199355.1|NM_001199356.1	NP_001186284.1|NP_001186285.1												p.E162D(8)									GGGCAACCTCCTCTTCTGGTT	0.428000													27	54					1.15505e-17	1.59046e-17	1	1	0
DGCR5	26220	broad.mit.edu	37	22	19002009	19002009	+	RNA	SNP	G	G	T	rs56157180	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr22:19002009G>T	ENST00000440005.2	+	0	828				DGCR5_ENST00000424407.1_RNA																							ACAAATCCAAGATTAGCACAG	0.458000													3	49					0.115264	0.116147	1	1	0
THEG	51298	broad.mit.edu	37	19	362338	362338	+	Silent	SNP	G	G	A	rs145779146	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:362338G>A	ENST00000342640.4	-	8	1044	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P	THEG_ENST00000346878.2_Silent_p.P310P	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	334					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.P334P(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGATGATCCGGGGGCTGGCCA	0.622000													4	64					0	0	1	0	0
TSLP	85480	broad.mit.edu	37	5	110407688	110407688	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:110407688T>A	ENST00000420978.2	+	2	1522	c.100T>A	c.(100-102)Tgt>Agt	p.C34S	TSLP_ENST00000344895.3_Missense_Mutation_p.C34S			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	34						extracellular space	cytokine activity	p.C34S(2)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTTCACTAACTGTGACTTTGA	0.348000													87	130					0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133364724	133364724	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:133364724C>G	ENST00000372394.1	+	13	1324	c.843C>G	c.(841-843)atC>atG	p.I281M	ASS1_ENST00000352480.5_Missense_Mutation_p.I281M|ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000372393.3_Missense_Mutation_p.I281M			P00966	ASSY_HUMAN	argininosuccinate synthase 1	281					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	p.I281M(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GGCTAGGTATCTACGAGACCC	0.448000													11	36					0	0	1	0	0
HAUS7	55559	broad.mit.edu	37	X	152721086	152721086	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:152721086C>G	ENST00000370219.3	-	8	1431	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.E292Q|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000421080.2_Silent_p.A113A|TREX2_ENST00000334497.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000370211.4_Missense_Mutation_p.E282Q	NM_017518.6	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	292					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	p.E292Q(2)|p.E292*(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						TGGCAGCACTCGCCCAGCTCG	0.602000													34	16					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28880415	28880415	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:28880415C>T	ENST00000337120.5	+	3	4421	c.1130C>T	c.(1129-1131)cCa>cTa	p.P377L	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Missense_Mutation_p.P67L|SH2B1_ENST00000538342.1_Missense_Mutation_p.P41L|SH2B1_ENST00000395532.4_Missense_Mutation_p.P377L|SH2B1_ENST00000359285.5_Missense_Mutation_p.P377L|SH2B1_ENST00000322610.8_Missense_Mutation_p.P377L	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	377	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.P377L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TGCCTGAGCCCAGGGTGAGAA	0.557000													6	113					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141267498	141267498	+	Splice_Site	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:141267498G>A	ENST00000389484.3	-	52	9368	c.8398_splice	c.e52+1	p.C2799_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2799	LDL-receptor class A 17.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C2799C(2)		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)		TGTTCATACCGCAGCCTGCTG	0.507000										TSP Lung(27;0.18)			41	207					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179396279	179396279	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:179396279G>A	ENST00000589042.1	-	358	105287	c.105063C>T	c.(105061-105063)ggC>ggT	p.G35021G	TTN_ENST00000591111.1_Silent_p.G33380G|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.G25956G|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342175.6_Silent_p.G26148G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Silent_p.G32453G|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000359218.5_Silent_p.G26081G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000450692.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33380							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G26081G(1)|p.G26148G(1)|p.G32451G(1)|p.G25956G(1)|p.G32453G(1)		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)			CAGAAGCTTCGCCCTTGTAGT	0.507000													17	181					0	0	1	0	0
ARF5	381	broad.mit.edu	37	7	127231266	127231266	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:127231266G>T	ENST00000000233.5	+	6	610		c.e6-1		GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5						protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	p.?(2)		cervix(2)|kidney(1)|lung(10)|ovary(1)	14						TTTCCCCACAGTGGTATGTCC	0.552000													6	5					2.17888e-05	2.38769e-05	1	1	0
TMEM81	388730	broad.mit.edu	37	1	205053311	205053311	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:205053311G>A	ENST00000367167.3	-	1	334	c.138C>T	c.(136-138)gcC>gcT	p.A46A		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	46						integral to membrane		p.A46A(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TACAGGTTGTGGCATTGATGA	0.532000													43	226					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161576140	161576140	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:161576140A>G	ENST00000356592.3	+	8	1409	c.949A>G	c.(949-951)Acc>Gcc	p.T317A	GABRG2_ENST00000414552.2_Missense_Mutation_p.T357A|GABRG2_ENST00000393933.4_Missense_Mutation_p.T222A|GABRG2_ENST00000361925.4_Missense_Mutation_p.T317A	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	317					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.T317A(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GACAATGACCACCCTCAGCAC	0.463000													14	363					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745809	77745809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:77745809G>T	ENST00000409088.3	-	3	1600	c.1186C>A	c.(1186-1188)Caa>Aaa	p.Q396K	LRRTM4_ENST00000409093.1_Missense_Mutation_p.Q396K|LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q397K|LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q396K|LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q397K	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	396						integral to membrane		p.Q396K(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGGTGGATTGGGTGACGTCA	0.493000													8	103					0.000673444	0.000714177	1	1	0
ZNF607	84775	broad.mit.edu	37	19	38198822	38198822	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:38198822C>A	ENST00000355202.4	-	4	823	c.228G>T	c.(226-228)gaG>gaT	p.E76D	CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.E76D|ZNF607_ENST00000395835.3_Missense_Mutation_p.E75D	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E76D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TACCTGTACACTCTCCTCTTG	0.443000													39	95					4.17463e-26	6.40191e-26	1	1	0
GAS2L2	246176	broad.mit.edu	37	17	34073054	34073054	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:34073054G>C	ENST00000254466.6	-	6	1489	c.1462C>G	c.(1462-1464)Cca>Gca	p.P488A	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P472A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	488					cell cycle arrest	cytoplasm|cytoskeleton		p.P488A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAGACTCTGGCTCCCTGAAC	0.642000													7	4					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744233	140744233	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:140744233C>G	ENST00000518069.1	+	1	336	c.336C>G	c.(334-336)aaC>aaG	p.N112K	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.N112K(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTTGAGAACAAAATGAAAA	0.443000													5	10					0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161130698	161130698	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:161130698C>T	ENST00000368002.3	+	3	645	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	USP21_ENST00000368001.1_Silent_p.L90L|USP21_ENST00000289865.8_Silent_p.L90L	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	90					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L90L(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGGGGTTCCCCTGCCTGGCTC	0.622000													4	24					0	0	1	0	0
AZI2	64343	broad.mit.edu	37	3	28381959	28381959	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:28381959T>C	ENST00000479665.1	-	2	681	c.150A>G	c.(148-150)aaA>aaG	p.K50K	AZI2_ENST00000457172.1_Silent_p.K50K|AZI2_ENST00000420543.2_Silent_p.K50K|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000334100.6_Silent_p.K50K	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	50						mitochondrion|plasma membrane		p.K50K(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTTAAGTCGTTTTTTGATGT	0.343000													15	20					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50326124	50326124	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:50326124C>A	ENST00000436390.1	-	13	1539	c.1042G>T	c.(1042-1044)Gag>Tag	p.E348*	IFRD2_ENST00000336089.4_Nonsense_Mutation_p.E514*|IFRD2_ENST00000429673.2_Nonsense_Mutation_p.E412*|IFRD2_ENST00000417626.2_Nonsense_Mutation_p.E348*			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	412							binding	p.E514*(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CGCACTATCTCTTCTTCGCAT	0.582000													7	16					0.000274275	0.000292634	1	1	0
PIANP	196500	broad.mit.edu	37	12	6804697	6804697	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:6804697G>A	ENST00000534837.1	-	5	955	c.726C>T	c.(724-726)ttC>ttT	p.F242F	PIANP_ENST00000320591.5_Silent_p.F242F|PIANP_ENST00000540656.1_Silent_p.F242F	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein									p.F242F(2)									GTGAGTCCCCGAAGGCCCCCA	0.692000													3	26					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605172	171605172	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:171605172G>A	ENST00000037502.5	-	3	1467	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	470	Olfactomedin-like.		R -> C (in GLC1A).|R -> H.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.R470C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TACTTATAGCGGTTCTTGAAT	0.488000													125	496					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1459915	1459915	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:1459915C>A	ENST00000345913.4	+	7	771	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	TPO_ENST00000349624.3_Missense_Mutation_p.S227Y|TPO_ENST00000346956.3_Missense_Mutation_p.S227Y|TPO_ENST00000337415.3_Missense_Mutation_p.S227Y|TPO_ENST00000329066.4_Missense_Mutation_p.S227Y|TPO_ENST00000382198.1_Missense_Mutation_p.S227Y|TPO_ENST00000382201.3_Missense_Mutation_p.S227Y|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	227					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.S227Y(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACCGCTATTCTGACCTCCTG	0.537000													14	32					2.31682e-05	2.53357e-05	1	1	0
PCDH17	27253	broad.mit.edu	37	13	58207122	58207122	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:58207122G>T	ENST00000377918.3	+	1	468	c.442G>T	c.(442-444)Ggc>Tgc	p.G148C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	148	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.G148C(2)		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)		CGCTGCTCCGGGCACCCGCTT	0.617000													6	8					2.0095e-06	2.25372e-06	1	1	0
PIWIL1	9271	broad.mit.edu	37	12	130833803	130833803	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:130833803T>A	ENST00000245255.3	+	8	1026	c.754T>A	c.(754-756)Ttc>Atc	p.F252I		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	252					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.F252I(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTGGCCTGGCTTCACTACTTC	0.438000													5	105					0	0	1	0	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078030	90078030	+	RNA	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:90078030G>T	ENST00000390270.2	+	0	164																											CGGAGAAATTGTGTTGACGCA	0.488000													56	114					1.43987e-31	2.3448e-31	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88886197	88886197	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:88886197C>A	ENST00000319675.3	-	1	99	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	1								p.M1I(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTTTGCTCTCCATTTCGTTCG	0.522000													32	47					2.80507e-11	3.40755e-11	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23527675	23527675	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:23527675C>A	ENST00000296682.3	+	11	2660	c.2478C>A	c.(2476-2478)caC>caA	p.H826Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	826					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.H826Q(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAGGACACACACAGGGGAGA	0.582000										HNSCC(3;0.000094)			95	355					4.12803e-41	7.21377e-41	1	1	0
PLIN4	729359	broad.mit.edu	37	19	4513206	4513206	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:4513206C>T	ENST00000301286.3	-	3	723	c.724G>A	c.(724-726)Ggt>Agt	p.G242S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	242	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.G170S(1)|p.G242S(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTGTCCACACCGGTCTGAATG	0.572000													3	43					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779674	31779674	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:31779674C>G	ENST00000375654.4	-	2	265	c.76G>C	c.(76-78)Ggc>Cgc	p.G26R	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G26R	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	26					response to unfolded protein		ATP binding	p.G26R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TCCACCTTGCCGTGCTGGAAC	0.607000													18	76					0	0	1	0	0
SLC25A18	83733	broad.mit.edu	37	22	18069984	18069984	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr22:18069984C>A	ENST00000327451.5	+	8	1030	c.492C>A	c.(490-492)ccC>ccA	p.P164P	SLC25A18_ENST00000399813.1_Silent_p.P164P|AC004019.13_ENST00000443935.1_RNA	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	164						integral to membrane|mitochondrial inner membrane	binding|symporter activity	p.P164P(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	ACAGGCGCCCCTCTGCCACCC	0.652000													8	116					5.18039e-06	5.77306e-06	1	1	0
LZTS1	11178	broad.mit.edu	37	8	20112440	20112440	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:20112440G>T	ENST00000381569.1	-	2	610	c.253C>A	c.(253-255)Ctg>Atg	p.L85M	LZTS1_ENST00000522290.1_Missense_Mutation_p.L85M|LZTS1_ENST00000265801.6_Missense_Mutation_p.L85M			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	85					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L85M(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCGCTGGACAGTGCCGTGTAA	0.577000													8	13					0.00307968	0.00323336	1	1	0
LAX1	54900	broad.mit.edu	37	1	203743435	203743435	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:203743435G>T	ENST00000442561.2	+	5	1213	c.823G>T	c.(823-825)Gat>Tat	p.D275Y	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.D259Y	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	275					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.D275Y(2)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GACAGGGTTGGATCTCAGTGC	0.493000													7	82					1.12685e-05	1.24001e-05	1	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28296390	28296390	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr21:28296390G>T	ENST00000284987.5	-	8	2896	c.2775C>A	c.(2773-2775)tgC>tgA	p.C925*	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	925	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.C925*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCTTCAACAAGCATTGCTTAA	0.478000													38	129					1.15183e-24	1.746e-24	1	1	0
E2F3	1871	broad.mit.edu	37	6	20488470	20488470	+	Missense_Mutation	SNP	G	G	A	rs147333935	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:20488470G>A	ENST00000346618.3	+	6	1192	c.1126G>A	c.(1126-1128)Gct>Act	p.A376T	E2F3_ENST00000535432.1_Missense_Mutation_p.A245T	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	376					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.A376T(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CCCTAAACCCGCTTCCAAAGG	0.408000													4	100					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118968566	118968566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:118968566G>T	ENST00000515256.1	+	2	366	c.194G>T	c.(193-195)cGc>cTc	p.R65L				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	65						intracellular	zinc ion binding	p.R65L(4)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TCTTCTTCACGCAAGCTCATC	0.557000													128	133					8.32301e-65	1.62145e-64	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139151256	139151256	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:139151256A>T	ENST00000395297.1	-	18	4044	c.3874T>A	c.(3874-3876)Ttc>Atc	p.F1292I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1292								p.F1292I(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGTAGAGGAAACATTTGCGC	0.448000										HNSCC(54;0.14)			56	179					0	0	1	0	0
ACTA2	59	broad.mit.edu	37	10	90699439	90699439	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:90699439G>T	ENST00000458208.1	-	7	1107	c.633C>A	c.(631-633)gtC>gtA	p.V211V	STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Silent_p.V211V|ACTA2-AS1_ENST00000437930.3_RNA|ACTA2-AS1_ENST00000596007.1_RNA	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	211					response to virus	cytosol	ATP binding	p.V211V(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TGATGTCCCGGACAATCTCAC	0.498000													25	90					7.38237e-10	8.70656e-10	1	1	0
PKNOX2	63876	broad.mit.edu	37	11	125300031	125300031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:125300031C>A	ENST00000298282.9	+	12	1457	c.1186C>A	c.(1186-1188)Ccc>Acc	p.P396T	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.P332T	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	396						nucleus	sequence-specific DNA binding transcription factor activity	p.P396T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AGGGACAAACCCCGATGGTAA	0.602000													9	31					9.05144e-12	1.10722e-11	1	1	0
OXGR1	27199	broad.mit.edu	37	13	97639260	97639260	+	Missense_Mutation	SNP	C	C	A	rs144457939		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:97639260C>A	ENST00000298440.1	-	4	997	c.754G>T	c.(754-756)Gta>Tta	p.V252L	OXGR1_ENST00000543457.1_Missense_Mutation_p.V252L	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	252						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.V252L(2)|p.V252I(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AAAAAACATACGTAAAATGCA	0.438000													65	186					5.45122e-27	8.45824e-27	1	1	0
CDHR4	389118	broad.mit.edu	37	3	49836271	49836271	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:49836271G>T	ENST00000343366.4	-	3	581	c.559C>A	c.(559-561)Cca>Aca	p.P187T	CDHR4_ENST00000412678.2_Silent_p.L161L|CDHR4_ENST00000487256.1_Silent_p.L161L			A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L161L(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GCGCTCCGTGGAGTTCTAGGC	0.612000													4	8					3.59834e-05	3.90253e-05	1	1	0
TBCD	6904	broad.mit.edu	37	17	80726316	80726316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:80726316G>T	ENST00000355528.4	+	5	586	c.456G>T	c.(454-456)atG>atT	p.M152I	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.M152I	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	152					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	p.M152I(2)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCCGCTACATGCTTTTGCTCT	0.498000													59	51					1.20111e-47	2.17108e-47	1	1	0
ZNF326	284695	broad.mit.edu	37	1	90470716	90470716	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:90470716G>T	ENST00000340281.4	+	4	265	c.122G>T	c.(121-123)gGa>gTa	p.G41V	ZNF326_ENST00000361911.5_Missense_Mutation_p.G41V|ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000370447.2_Missense_Mutation_p.G41V	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	41	Gly-rich.|Mediates transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	p.G41V(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TATGGCCATGGATCCTATGGG	0.408000													130	116					7.97313e-81	1.62553e-80	1	1	0
OR13G1	441933	broad.mit.edu	37	1	247835561	247835561	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:247835561G>C	ENST00000359688.2	-	1	804	c.783C>G	c.(781-783)tcC>tcG	p.S261S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S261S(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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)			ATGTATAGCTGGAAGCAGGGC	0.463000													135	178					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33457284	33457284	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:33457284G>A	ENST00000305768.4	-	2	216	c.128C>T	c.(127-129)cCa>cTa	p.P43L	CEP89_ENST00000590597.1_Missense_Mutation_p.P43L	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	43						centrosome|spindle pole		p.P43L(2)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTCTGGAGATGGGTTGGGGCT	0.572000													49	78					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207470	58207470	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:58207470G>T	ENST00000377918.3	+	1	816	c.790G>T	c.(790-792)Gat>Tat	p.D264Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	264	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.D264Y(2)		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)		AGTGGTCATCGATCTGAACGC	0.587000													11	34					1.36491e-13	1.72998e-13	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117486760	117486760	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:117486760A>T	ENST00000355044.3	+	27	3924	c.3798A>T	c.(3796-3798)caA>caT	p.Q1266H	ATRNL1_ENST00000423111.2_Missense_Mutation_p.Q317H|ATRNL1_ENST00000303745.7_Missense_Mutation_p.Q59H	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1266						integral to membrane	sugar binding	p.Q1266H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCCTCCAGCAACTGCTTCGAG	0.428000													25	79					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28893606	28893606	+	Missense_Mutation	SNP	G	G	T	rs116034414	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:28893606G>T	ENST00000282397.4	-	24	3491	c.3240C>A	c.(3238-3240)agC>agA	p.S1080R	FLT1_ENST00000540678.1_Missense_Mutation_p.S298R|FLT1_ENST00000543394.1_Missense_Mutation_p.S103R	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1080	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.S1080R(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ACCACACGTCGCTCTTGGTGC	0.463000													19	47					6.44725e-10	7.63796e-10	1	1	0
TIMMDC1	51300	broad.mit.edu	37	3	119222382	119222382	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:119222382T>G	ENST00000494664.1	+	3	566	c.364T>G	c.(364-366)Tct>Gct	p.S122A	TIMMDC1_ENST00000493694.1_Intron	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	122						integral to membrane|mitochondrial inner membrane	protein transporter activity	p.S122A(2)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ACTTTAGCAATCTGCACATCG	0.418000													13	47					0	0	1	0	0
LCP2	3937	broad.mit.edu	37	5	169697832	169697832	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:169697832G>T	ENST00000046794.5	-	7	1029	c.414C>A	c.(412-414)ccC>ccA	p.P138P		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	138					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	p.P138P(6)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CATCTTCCACGGGTGCCTCTT	0.547000													34	88					9.8876e-21	1.43275e-20	1	1	0
AKAP6	9472	broad.mit.edu	37	14	33242894	33242894	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:33242894G>A	ENST00000280979.4	+	12	3553	c.3383G>A	c.(3382-3384)cGt>cAt	p.R1128H	AKAP6_ENST00000557272.1_Missense_Mutation_p.R1128H	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1128					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.R1128H(2)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCCCTCTGTCGTGAAATCAAG	0.448000													71	775					0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705328	41705328	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:41705328C>A	ENST00000379485.1	-	1	1554	c.1320G>T	c.(1318-1320)ttG>ttT	p.L440F	KBTBD6_ENST00000499385.2_Missense_Mutation_p.L374F	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	440							protein binding	p.L440F(2)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTCGCCCCCCCAAAATGTAGA	0.473000													44	304					7.77372e-23	1.16495e-22	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	76975867	76975867	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:76975867G>T	ENST00000409911.1	-	3	1953	c.1730C>A	c.(1729-1731)gCc>gAc	p.A577D	LRRTM4_ENST00000409093.1_Missense_Mutation_p.A576D|LRRTM4_ENST00000409884.1_Missense_Mutation_p.A576D	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	576						integral to membrane		p.A576E(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGCCGACCTGGCGATGGTGGC	0.612000													62	222					2.55378e-55	4.71329e-55	1	1	0
ZNF680	340252	broad.mit.edu	37	7	64004155	64004155	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:64004155C>G	ENST00000309683.6	-	3	334	c.183G>C	c.(181-183)ctG>ctC	p.L61L	ZNF680_ENST00000476563.1_5'UTR|ZNF680_ENST00000447137.2_Silent_p.L61L	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L61L(2)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				AACAGGTTATCAGGTGAGGCT	0.398000													93	161					0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137816623	137816623	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:137816623C>T	ENST00000327532.2	-	3	930	c.568G>A	c.(568-570)Gca>Aca	p.A190T	DZIP1L_ENST00000469243.1_Missense_Mutation_p.A190T	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	190						intracellular	zinc ion binding	p.A190T(2)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						gccacgcctgcatgcctgcgc	0.577000											OREG0015831	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	41					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534270	92534270	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:92534270C>G	ENST00000298047.6	+	9	8108	c.8091C>G	c.(8089-8091)caC>caG	p.H2697Q	FAT3_ENST00000525166.1_Missense_Mutation_p.H2547Q|FAT3_ENST00000409404.2_Missense_Mutation_p.H2697Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2697	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.H2697Q(4)		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)				TCTATATCCACGTCTTGCCCC	0.458000										TCGA Ovarian(4;0.039)			50	66					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197024971	197024971	+	Missense_Mutation	SNP	C	C	A	rs144134146	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:197024971C>A	ENST00000367412.1	-	8	1271	c.1228G>T	c.(1228-1230)Ggg>Tgg	p.G410W		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	410	Sushi 7.				blood coagulation	extracellular region		p.G410W(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GCCAATATCCCGTCTGCAACA	0.363000													167	139					7.53197e-71	1.4894e-70	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52320977	52320977	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:52320977G>T	ENST00000356297.4	-	17	3307	c.3207C>A	c.(3205-3207)gcC>gcA	p.A1069A	PXDNL_ENST00000543296.1_Silent_p.A1069A	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1069					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.A1069A(2)|p.A268A(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACCTAAGGTGGCATTCAGTC	0.468000													7	10					0.00621372	0.00645932	1	1	0
TGM5	9333	broad.mit.edu	37	15	43552761	43552761	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr15:43552761G>A	ENST00000220420.5	-	2	34	c.27C>T	c.(25-27)ctC>ctT	p.L9L	TGM5_ENST00000349114.4_Silent_p.L9L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	9					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.L9L(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGAGGTCTGTGAGGGCCACTT	0.562000													79	131					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78195558	78195558	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:78195558C>A	ENST00000370793.1	-	10	1143	c.797G>T	c.(796-798)gGg>gTg	p.G266V	USP33_ENST00000357428.1_Missense_Mutation_p.G266V|USP33_ENST00000370794.3_Missense_Mutation_p.G235V|USP33_ENST00000370792.3_Missense_Mutation_p.G266V	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	266					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.G266V(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CTGAGAATACCCCCGAAATGT	0.318000													25	165					1.45844e-13	1.83088e-13	1	1	0
KANSL3	55683	broad.mit.edu	37	2	97274401	97274401	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:97274401C>A	ENST00000599854.1	-	14	1791	c.1323_splice	c.e14-1	p.D442_splice	KANSL3_ENST00000441706.2_Splice_Site_p.D442_splice|KANSL3_ENST00000440133.1_Splice_Site_p.D323_splice|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000431828.1_Splice_Site_p.D529_splice	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	529								p.D529Y(2)									CTGGAGAGATCCTGAGTAAGG	0.517000													75	188					2.32385e-29	3.69288e-29	1	1	0
ZNF135	7694	broad.mit.edu	37	19	58579729	58579729	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:58579729G>A	ENST00000506786.1	+	5	2305	c.1751G>A	c.(1750-1752)aGg>aAg	p.R584K	ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000401053.4_Missense_Mutation_p.R650K|ZNF135_ENST00000511556.1_Missense_Mutation_p.R638K|ZNF135_ENST00000439855.2_Missense_Mutation_p.R626K|ZNF135_ENST00000313434.5_Missense_Mutation_p.R626K			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	638					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R650K(2)|p.R626K(2)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAGCACCGGAGGATCCACACA	0.547000													9	73					0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22969320	22969320	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:22969320G>A	ENST00000356864.3	+	2	680	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	TNFRSF10C_ENST00000520607.1_3'UTR|TNFRSF10C_ENST00000540813.1_Intron	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	50					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity	p.G50R(1)		endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CAGCTTCAAGGGGGAGGAGTG	0.463000													18	83					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975866	76975866	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:76975866G>T	ENST00000409911.1	-	3	1954	c.1731C>A	c.(1729-1731)gcC>gcA	p.A577A	LRRTM4_ENST00000409093.1_Silent_p.A576A|LRRTM4_ENST00000409884.1_Silent_p.A576A	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	576						integral to membrane		p.A576E(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTGCCGACCTGGCGATGGTGG	0.607000													61	225					1.54771e-57	2.89714e-57	1	1	0
SEC31B	25956	broad.mit.edu	37	10	102249075	102249075	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:102249075G>C	ENST00000370345.3	-	23	3202	c.3105C>G	c.(3103-3105)ccC>ccG	p.P1035P		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1035	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		p.P1035P(2)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GGGGCTGTGAGGGAAGAATCC	0.537000													8	31					0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157737060	157737060	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:157737060C>A	ENST00000361516.3	-	6	1171	c.1123G>T	c.(1123-1125)Ggg>Tgg	p.G375W	FCRL2_ENST00000469986.1_Missense_Mutation_p.G122W|FCRL2_ENST00000392274.3_Missense_Mutation_p.G375W|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	375	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	p.G375W(2)|p.G122W(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACTGGGCCCCCAGGCCGTTG	0.577000													229	280					5.13329e-129	1.1066e-128	1	1	0
DYM	54808	broad.mit.edu	37	18	46858254	46858254	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:46858254C>A	ENST00000269445.6	-	8	1200	c.743G>T	c.(742-744)gGa>gTa	p.G248V	DYM_ENST00000578396.1_Missense_Mutation_p.G93V|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	248						Golgi apparatus		p.G248V(2)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TGATGCAAGTCCATAAAGCAG	0.398000													22	148					1.77063e-15	2.33422e-15	1	1	0
TRIM69	140691	broad.mit.edu	37	15	45052015	45052015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr15:45052015C>A	ENST00000558173.1	+	4	5039	c.294C>A	c.(292-294)taC>taA	p.Y98*	TRIM69_ENST00000338264.4_Nonsense_Mutation_p.Y143*|TRIM69_ENST00000560442.1_Nonsense_Mutation_p.Y98*|TRIM69_ENST00000558329.1_Nonsense_Mutation_p.Y81*|TRIM69_ENST00000329464.4_Nonsense_Mutation_p.Y302*|TRIM69_ENST00000559390.1_Nonsense_Mutation_p.Y302*|TRIM69_ENST00000561043.1_Nonsense_Mutation_p.Y65*			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	302	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding	p.Y302*(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TGGGCCAGTACAAAGGTCCTA	0.473000													40	336					5.44703e-19	7.64036e-19	1	1	0
ZC3H11A	9877	broad.mit.edu	37	1	203821508	203821508	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:203821508C>G	ENST00000545588.1	+	17	6241	c.2414C>G	c.(2413-2415)tCa>tGa	p.S805*	ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	805							nucleic acid binding|protein binding|zinc ion binding	p.S805*(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTGAGCTATCAGAAATGATT	0.378000													3	46					0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28210368	28210368	+	Missense_Mutation	SNP	G	G	A	rs149580995	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr21:28210368G>A	ENST00000284984.2	-	9	2888	c.2434C>T	c.(2434-2436)Cgc>Tgc	p.R812C		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	812	Spacer.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.R812C(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CTAAAGCTGCGAATTCTTTCC	0.448000													3	41					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106135	55106135	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:55106135C>T	ENST00000453777.1	+	4	246	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.L26F	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	26					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.L26F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCCAGGGACCCTCCCCAAGCC	0.587000													39	49					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196683021	196683021	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:196683021G>A	ENST00000367429.4	+	10	1733	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	498	Sushi 8.				complement activation, alternative pathway	extracellular space		p.G498E(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGGAAAGATGGATGGTCAGCT	0.333000													31	195					0	0	1	0	0
TBC1D7	51256	broad.mit.edu	37	6	13321220	13321220	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:13321220C>A	ENST00000607658.1	-	3	370	c.220G>T	c.(220-222)Gcc>Tcc	p.A74S	TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000379300.3_Missense_Mutation_p.A101S|TBC1D7_ENST00000379307.2_Missense_Mutation_p.A74S|TBC1D7_ENST00000343141.4_Missense_Mutation_p.A101S|TBC1D7_ENST00000356436.4_Missense_Mutation_p.A101S			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	101	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	p.A101S(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			TGAGGTGTGGCATCACTAACA	0.502000													218	330					5.16255e-81	1.05661e-80	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70226056	70226056	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:70226056C>A	ENST00000310961.5	+	4	602	c.184C>A	c.(184-186)Caa>Aaa	p.Q62K	LRRC7_ENST00000035383.5_Missense_Mutation_p.Q57K|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.Q95K			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	57						centrosome|focal adhesion|nucleolus	protein binding	p.Q95K(2)|p.Q57K(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGATGCCAATCAAATTGAAGA	0.338000													36	240					1.41504e-22	2.09075e-22	1	1	0
OTUD6A	139562	broad.mit.edu	37	X	69282458	69282458	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:69282458C>G	ENST00000338352.2	+	1	118	c.84C>G	c.(82-84)agC>agG	p.S28R		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	28								p.S28R(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGATCCGGAGCTTAAAAAACT	0.582000													5	1					0	0	1	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442329	89442329	+	RNA	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:89442329G>T	ENST00000492167.1	-	0	127																											CCTGGAGACTGCGTCAACACA	0.498000													28	210					8.4185e-14	1.07479e-13	1	1	0
GPR151	134391	broad.mit.edu	37	5	145895383	145895383	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:145895383C>T	ENST00000311104.2	-	1	370	c.294G>A	c.(292-294)gcG>gcA	p.A98A		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	98						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A98A(3)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTGGAGTACGCCGTAGCTC	0.512000													37	144					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38791356	38791356	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:38791356C>A	ENST00000359357.3	+	26	3342	c.3088C>A	c.(3088-3090)Ccc>Acc	p.P1030T	DNAH8_ENST00000441566.1_Missense_Mutation_p.P1030T|DNAH8_ENST00000449981.2_Missense_Mutation_p.P1247T					dynein, axonemal, heavy chain 8									p.P1030T(4)		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						GGCTAACAACCCCTCTCTGAC	0.318000													67	90					2.61964e-41	4.5931e-41	1	1	0
MUC16	94025	broad.mit.edu	37	19	9089844	9089844	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:9089844C>A	ENST00000397910.4	-	1	2174	c.1971G>T	c.(1969-1971)aaG>aaT	p.K657N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	657	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.K657N(4)		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						CAGCAGCCGTCTTGCTCACTG	0.532000													126	886					2.23578e-59	4.21513e-59	1	1	0
SNTG1	54212	broad.mit.edu	37	8	51351136	51351136	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:51351136G>A	ENST00000522124.1	+	5	857	c.196G>A	c.(196-198)Gga>Aga	p.G66R	SNTG1_ENST00000518864.1_Missense_Mutation_p.G66R|SNTG1_ENST00000517473.1_Missense_Mutation_p.G66R|SNTG1_ENST00000276467.5_Missense_Mutation_p.G66R	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	66	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.G66R(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ACAAACAGTAGGAGGATTTGG	0.383000													50	87					0	0	1	0	0
TMEM106B	54664	broad.mit.edu	37	7	12270059	12270059	+	Silent	SNP	T	T	C	rs142177964		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:12270059T>C	ENST00000396667.2	+	7	949	c.627T>C	c.(625-627)taT>taC	p.Y209Y	TMEM106B_ENST00000396668.3_Silent_p.Y209Y	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	209						integral to membrane		p.Y209Y(2)		NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		AAATGAGTTATATGTAGTAAG	0.269000													148	164					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975892	76975892	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:76975892C>A	ENST00000409911.1	-	3	1928	c.1705G>T	c.(1705-1707)Gac>Tac	p.D569Y	LRRTM4_ENST00000409093.1_Missense_Mutation_p.D568Y|LRRTM4_ENST00000409884.1_Missense_Mutation_p.D568Y	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	568						integral to membrane		p.D568Y(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGCTGTGGTCTCGGCCCAGC	0.607000													21	211					8.28887e-21	1.2044e-20	1	1	0
SEMA3D	223117	broad.mit.edu	37	7	84669987	84669987	+	Splice_Site	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:84669987A>T	ENST00000284136.6	-	9	1090		c.e9+1		SEMA3D_ENST00000484038.1_Splice_Site	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D						cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.?(2)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGTTGAACATACCTGGTTGTA	0.318000													41	19					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624298	53624298	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:53624298C>A	ENST00000219022.2	+	5	1003	c.925C>A	c.(925-927)Ctg>Atg	p.L309M		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	309	Olfactomedin-like.				cell adhesion	extracellular space		p.L309M(2)		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)		GTACAACACACTGGATGATTT	0.433000													71	193					2.14232e-31	3.47797e-31	1	1	0
CDH7	1005	broad.mit.edu	37	18	63527052	63527052	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:63527052G>T	ENST00000536984.2	+	10	2297	c.1603G>T	c.(1603-1605)Gat>Tat	p.D535Y	CDH7_ENST00000397968.2_Missense_Mutation_p.D535Y|CDH7_ENST00000323011.3_Missense_Mutation_p.D535Y			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	535	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D535Y(4)|p.L533_D535del(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTCATTGAAAGATAACAAAGG	0.368000													18	120					1.96292e-10	2.34658e-10	1	1	0
SAGE1	55511	broad.mit.edu	37	X	134992580	134992580	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:134992580C>A	ENST00000535938.1	+	16	2038	c.1871C>A	c.(1870-1872)gCa>gAa	p.A624E	SAGE1_ENST00000370709.3_Missense_Mutation_p.A624E|SAGE1_ENST00000324447.3_Missense_Mutation_p.A624E|SAGE1_ENST00000537770.1_Missense_Mutation_p.A248E	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	624								p.A624E(2)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCAGATGCTGCAGTCACTCAC	0.468000													145	104					1.22619e-59	2.32843e-59	1	1	0
SKP2	6502	broad.mit.edu	37	5	36152975	36152975	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:36152975G>T	ENST00000274255.6	+	2	307	c.111G>T	c.(109-111)ggG>ggT	p.G37G	SKP2_ENST00000508514.1_Silent_p.G37G|SKP2_ENST00000546211.1_5'UTR|SKP2_ENST00000274254.5_Silent_p.G37G	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	37					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.G37G(4)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGGCATGGGGGTCTCCGCCC	0.602000													46	48					1.19451e-25	1.82649e-25	1	1	0
TP53	7157	broad.mit.edu	37	17	7578556	7578556	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:7578556T>A	ENST00000420246.2	-	5	508		c.e5-2		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		AGGGGAGTACTGTAGGAAGAG	0.552000		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)			13	26					0	0	1	0	0
EVI2A	2123	broad.mit.edu	37	17	29645450	29645450	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:29645450G>T	ENST00000247270.3	-	3	987	c.651C>A	c.(649-651)gaC>gaA	p.D217E	NF1_ENST00000356175.3_Intron|NF1_ENST00000581113.2_3'UTR|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.H134N|EVI2A_ENST00000462804.2_Missense_Mutation_p.D194E|EVI2A_ENST00000461237.1_Missense_Mutation_p.D194E|NF1_ENST00000358273.4_Intron	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	194						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)|p.D217E(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTTTCCAAGTGTCTGATTCAG	0.468000													46	43					1.7489e-18	2.44012e-18	1	1	0
FAM98A	25940	broad.mit.edu	37	2	33810355	33810355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:33810355C>A	ENST00000238823.8	-	8	1185	c.1045G>T	c.(1045-1047)Gga>Tga	p.G349*	FAM98A_ENST00000441530.2_Nonsense_Mutation_p.G154*|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	350	Gly-rich.							p.G349*(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCTCGTCCTCCGTATGAGGAA	0.597000													50	103					1.27334e-21	1.86567e-21	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	126139128	126139128	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:126139128G>A	ENST00000299308.3	+	9	3117	c.3109G>A	c.(3109-3111)Ggc>Agc	p.G1037S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G549S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1037						integral to membrane		p.G1037S(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCCAGAGGACGGCGGCCCATA	0.473000													9	204					0	0	1	0	0
P2RX2	22953	broad.mit.edu	37	12	133198443	133198443	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:133198443C>A	ENST00000389110.3	+	11	1338	c.1301C>A	c.(1300-1302)cCg>cAg	p.P434Q	P2RX2_ENST00000351222.4_Missense_Mutation_p.P342Q|P2RX2_ENST00000343948.4_Missense_Mutation_p.P460Q|P2RX2_ENST00000350048.5_Missense_Mutation_p.P410Q|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000352418.4_Missense_Mutation_p.P362Q|P2RX2_ENST00000348800.5_Intron	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	434					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	p.P460Q(2)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CCAGCCTTCCCGCCCCTGCGG	0.692000													5	8					0.014758	0.0152509	1	1	0
KCNK18	338567	broad.mit.edu	37	10	118969187	118969187	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:118969187T>C	ENST00000334549.1	+	3	532	c.532T>C	c.(532-534)Tcc>Ccc	p.S178P		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	178						integral to membrane|plasma membrane		p.S178P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCCCTCCTCTCCAAGTGGTG	0.512000													5	30					0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30629219	30629219	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:30629219C>A	ENST00000358107.4	-	4	880	c.881G>T	c.(880-882)cGg>cTg	p.R294L	MTPAP_ENST00000263063.3_Missense_Mutation_p.R164L|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	164					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	p.R294L(2)|p.R164L(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ATTACTTGACCGTACGCGTGA	0.403000													64	413					9.4991e-31	1.53268e-30	1	1	0
ZNF827	152485	broad.mit.edu	37	4	146823920	146823920	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:146823920T>A	ENST00000508784.1	-	2	718	c.491A>T	c.(490-492)cAg>cTg	p.Q164L	ZNF827_ENST00000379448.4_Missense_Mutation_p.Q164L|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	164				Q -> R (in Ref. 2; BAC03591).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q164L(4)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACTGAGCTGCTGGGCGTGGTG	0.537000													136	212					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21805115	21805115	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:21805115G>A	ENST00000399443.3	-	0	821				OSBPL1A_ENST00000319481.3_Missense_Mutation_p.R498C|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.R116C	NM_018030.4	NP_060500.3	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A						cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	p.R498C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCAAAGGAGCGTGCTGTCACT	0.488000													7	253					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518829	108518829	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:108518829C>A	ENST00000375915.2	-	1	254	c.116G>T	c.(115-117)cGa>cTa	p.R39L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	39						integral to membrane	binding	p.R39L(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CAGAGACAGTCGCCATTTCTG	0.557000													27	79					2.08457e-15	2.74121e-15	1	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72520242	72520242	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:72520242C>T	ENST00000373208.1	+	22	3314	c.3314C>T	c.(3313-3315)cCt>cTt	p.P1105L	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P1102L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1102	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1105L(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGCcccaaccctggcccagac	0.637000													4	10					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48416095	48416095	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:48416095G>T	ENST00000435803.1	+	35	11285	c.11261G>T	c.(11260-11262)tGg>tTg	p.W3754L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3754					transport	integral to membrane	ATP binding|ATPase activity	p.W3699L(2)|p.W3754L(2)		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						ACATTTGGCTGGGTTTGCTGG	0.403000													145	381					1.65718e-73	3.327e-73	1	1	0
CHCHD4	131474	broad.mit.edu	37	3	14154566	14154566	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:14154566C>T	ENST00000295767.5	-	4	613	c.289G>A	c.(289-291)Ggg>Agg	p.G97R	CHCHD4_ENST00000396914.3_Missense_Mutation_p.G84R	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	84	CHCH.				protein transport|transmembrane transport	mitochondrial intermembrane space		p.G97R(2)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CAGTCTGACCCCTTGATCTCC	0.537000													4	76					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108638599	108638599	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:108638599G>T	ENST00000218006.2	-	12	2686	c.2395C>A	c.(2395-2397)Cga>Aga	p.R799R		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	799	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.R799R(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAAGTTGGTCGTTGTTCTGCA	0.502000													192	144					1.0559e-105	2.23054e-105	1	1	0
OR5L1	219437	broad.mit.edu	37	11	55579661	55579661	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:55579661C>A	ENST00000333973.2	+	1	808	c.719C>A	c.(718-720)aCc>aAc	p.T240N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T240N(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCCTTCTCCACCTGTGCTTCC	0.507000													156	170					3.42953e-66	6.70608e-66	1	1	0
TDRD1	56165	broad.mit.edu	37	10	115973156	115973156	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:115973156A>G	ENST00000251864.2	+	15	2036	c.1883A>G	c.(1882-1884)aAa>aGa	p.K628R	TDRD1_ENST00000422662.1_Missense_Mutation_p.K232R|TDRD1_ENST00000369280.1_Missense_Mutation_p.K628R|TDRD1_ENST00000369282.1_Missense_Mutation_p.K628R|TDRD1_ENST00000369281.2_Missense_Mutation_p.K571R	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	628					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.K628R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGTCTCATGAAAAAACTTGTA	0.363000													19	161					0	0	1	0	0
RSAD2	91543	broad.mit.edu	37	2	7036027	7036027	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:7036027G>A	ENST00000382040.3	+	6	1176	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	RSAD2_ENST00000541728.1_Missense_Mutation_p.G240E	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	347					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	p.G347E(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CTGAAGCGAGGAGGAAAATAC	0.443000													67	87					0	0	1	0	0
MIR517B	574483	broad.mit.edu	37	19	54224383	54224383	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:54224383C>A	ENST00000385102.1	+	0	54					NR_030205.1																						TCGTGCATCCCTTTAGAGTGT	0.423000													51	347					3.89483e-19	5.47775e-19	1	1	0
RLN2	6019	broad.mit.edu	37	9	5300244	5300244	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:5300244T>A	ENST00000381627.3	-	2	800	c.412A>T	c.(412-414)Agt>Tgt	p.S138C	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	138					female pregnancy	extracellular region	hormone activity	p.S138C(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		GCGGCTTCACTTTGTCTATTG	0.378000													62	290					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39734030	39734030	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:39734030C>A	ENST00000395670.3	-	16	2666	c.2247G>T	c.(2245-2247)caG>caT	p.Q749H	KIF21A_ENST00000541463.2_Missense_Mutation_p.Q736H|KIF21A_ENST00000361418.5_Missense_Mutation_p.Q749H|KIF21A_ENST00000361961.3_Missense_Mutation_p.Q736H|KIF21A_ENST00000544797.2_Missense_Mutation_p.Q736H			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	749					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.Q736H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CATACTGAGACTGATTTTTAA	0.338000													50	170					4.79706e-38	8.24593e-38	1	1	0
HGF	3082	broad.mit.edu	37	7	81335640	81335640	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:81335640G>T	ENST00000222390.5	-	15	1946	c.1720C>A	c.(1720-1722)Cct>Act	p.P574T	HGF_ENST00000457544.2_Missense_Mutation_p.P569T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	574	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.P574T(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GATCCTTCAGGGCCATATACC	0.398000													131	62					2.33983e-75	4.73366e-75	1	1	0
CD40LG	959	broad.mit.edu	37	X	135741330	135741330	+	Missense_Mutation	SNP	G	G	T	rs11575982	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:135741330G>T	ENST00000370629.2	+	5	598	c.542G>T	c.(541-543)cGg>cTg	p.R181L	CD40LG_ENST00000370628.2_Missense_Mutation_p.R160L	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	181					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	p.R181L(2)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	TGTTCCAATCGGGAAGCTTCG	0.463000									Immune Deficiency with Hyper-IgM				1152	792					7.80113e-304	1.70975e-303	1	1	0
POLG	5428	broad.mit.edu	37	15	89862224	89862224	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr15:89862224G>A	ENST00000268124.5	-	20	3544	c.3211C>T	c.(3211-3213)Cgt>Tgt	p.R1071C	POLG_ENST00000442287.2_Missense_Mutation_p.R1071C	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1071					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	p.R1071C(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ACCGGGGTACGTGGTATGTCA	0.587000								DNA polymerases (catalytic subunits)					22	55					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32667152	32667152	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:32667152T>A	ENST00000421745.2	+	18	4098	c.3964T>A	c.(3964-3966)Tta>Ata	p.L1322I		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1322					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.L1322I(2)|p.L1294I(2)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGTGCCATGTTACAGTTTTC	0.383000													21	91					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123105065	123105065	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:123105065T>A	ENST00000466202.1	-	10	2158		c.e10-2		IQUB_ENST00000324698.6_Splice_Site|IQUB_ENST00000434450.1_Splice_Site			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing									p.?(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTCATGTTCCTATATAAAACA	0.308000													99	94					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123870955	123870955	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:123870955G>T	ENST00000422452.2	-	4	691	c.628C>A	c.(628-630)Ccc>Acc	p.P210T	TENM1_ENST00000371130.3_Missense_Mutation_p.P210T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.P212T(2)									GCTGCAGGGGGTGGCTTCCTG	0.622000													72	61					5.29578e-48	9.60545e-48	1	1	0
SLC28A3	64078	broad.mit.edu	37	9	86912912	86912912	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:86912912C>A	ENST00000376238.4	-	7	741	c.692G>T	c.(691-693)tGg>tTg	p.W231L	SLC28A3_ENST00000537648.1_Missense_Mutation_p.W162L	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	231					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	p.W231L(2)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CCCGATTCCCCATAAGACAGG	0.418000													26	136					5.45727e-16	7.26715e-16	1	1	0
SPATA18	132671	broad.mit.edu	37	4	52944926	52944926	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:52944926C>A	ENST00000295213.4	+	8	1420	c.1046C>A	c.(1045-1047)gCa>gAa	p.A349E	SPATA18_ENST00000419395.2_Missense_Mutation_p.A317E	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	349					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.A349E(4)		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)			GCAAAAATGGCATTCAGACAC	0.383000													110	390					4.03838e-40	7.03374e-40	1	1	0
ZC3H6	376940	broad.mit.edu	37	2	113082754	113082754	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:113082754G>T	ENST00000409871.1	+	11	2467	c.2066G>T	c.(2065-2067)aGg>aTg	p.R689M	ZC3H6_ENST00000343936.4_Missense_Mutation_p.R689M	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	689							nucleic acid binding|zinc ion binding	p.R689M(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAACCTCATAGGGCACCAAGC	0.443000													20	157					2.27525e-19	3.21716e-19	1	1	0
C1QTNF1	114897	broad.mit.edu	37	17	77044101	77044101	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:77044101C>A	ENST00000339142.2	+	5	1332	c.777C>A	c.(775-777)atC>atA	p.I259I	C1QTNF1_ENST00000354124.3_Silent_p.I269I|C1QTNF1_ENST00000583904.1_Silent_p.I259I|C1QTNF1_ENST00000579760.1_Silent_p.I259I|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000581774.1_Silent_p.I259I|C1QTNF1_ENST00000580454.1_Silent_p.I259I|C1QTNF1_ENST00000580474.1_Silent_p.I259I|C1QTNF1_ENST00000578229.1_Silent_p.I177I|C1QTNF1_ENST00000392445.2_Silent_p.I259I|C1QTNF1_ENST00000311661.4_Silent_p.I177I	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	259	C1q.					collagen		p.I177I(2)|p.I259I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AGAACGCCATCTTCAGCGAGG	0.622000													81	73					5.42582e-32	8.94665e-32	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5239326	5239326	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:5239326C>T	ENST00000274181.7	+	15	2355	c.2217C>T	c.(2215-2217)aaC>aaT	p.N739N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	739	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N739N(4)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGGTGTGTAACGGGAATAACT	0.512000													261	1577					0	0	1	0	0
TSGA13	114960	broad.mit.edu	37	7	130353924	130353924	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:130353924G>T	ENST00000456951.1	-	9	1609	c.758C>A	c.(757-759)cCc>cAc	p.P253H	TSGA13_ENST00000356588.3_Missense_Mutation_p.P253H			Q96PP4	TSG13_HUMAN	testis specific, 13	253								p.P253H(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GCTCTCCCCGGGCGCGGTTCT	0.597000													45	42					2.55665e-31	4.13784e-31	1	1	0
ZNF611	81856	broad.mit.edu	37	19	53208882	53208882	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:53208882C>T	ENST00000543227.1	-	6	1700	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	ZNF611_ENST00000319783.1_Missense_Mutation_p.D476N|ZNF611_ENST00000595798.1_Missense_Mutation_p.D407N|ZNF611_ENST00000602162.1_Missense_Mutation_p.D407N|ZNF611_ENST00000540744.1_Missense_Mutation_p.D476N|ZNF611_ENST00000453741.2_Missense_Mutation_p.D407N	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D476N(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCTCCACAGTCAATTCTAGTA	0.378000													24	123					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048891	6048891	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:6048891G>T	ENST00000316650.5	-	1	80	c.44C>A	c.(43-45)cCa>cAa	p.P15Q		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P15Q(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCAGAGACTGGGACAGTGGA	0.522000													312	432					3.67166e-174	7.98056e-174	1	1	0
NLRC3	197358	broad.mit.edu	37	16	3615000	3615000	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:3615000C>A	ENST00000301749.7	-	0	443				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	p.G60V(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGGCCCTGGCCGGCCTCCCT	0.687000													5	1					0.0293803	0.0297766	1	1	0
PLXDC1	57125	broad.mit.edu	37	17	37264449	37264449	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:37264449C>A	ENST00000315392.4	-	5	730	c.519G>T	c.(517-519)caG>caT	p.Q173H	PLXDC1_ENST00000394316.2_Missense_Mutation_p.Q173H|PLXDC1_ENST00000539608.1_Missense_Mutation_p.Q100H|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.Q133H	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	173					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		p.Q173H(2)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCGCCACATACTGAGTAGCTG	0.537000													138	145					3.53118e-72	7.0356e-72	1	1	0
CDH20	28316	broad.mit.edu	37	18	59217422	59217422	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:59217422C>A	ENST00000262717.4	+	11	2258	c.1860C>A	c.(1858-1860)ggC>ggA	p.G620G	CDH20_ENST00000538374.1_Silent_p.G620G|CDH20_ENST00000536675.2_Silent_p.G620G			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	620					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G620G(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGAGCCGGGGCGCCCTCATTG	0.582000													11	91					0.000978159	0.00103523	1	1	0
MED23	9439	broad.mit.edu	37	6	131912668	131912668	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:131912668C>A	ENST00000403834.3	-	26	3663		c.e26-1		MED23_ENST00000368060.3_Splice_Site|MED23_ENST00000368068.3_Splice_Site|MED23_ENST00000368058.1_Splice_Site|MED23_ENST00000479213.1_Splice_Site|MED23_ENST00000545957.1_Splice_Site|MED23_ENST00000354577.4_Splice_Site			Q9ULK4	MED23_HUMAN	mediator complex subunit 23						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.?(4)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AATATGGCTCCTTTAAAATCG	0.403000													43	65					1.32136e-16	1.78214e-16	1	1	0
NRCAM	4897	broad.mit.edu	37	7	107830179	107830179	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:107830179G>T	ENST00000379028.3	-	20	2415	c.1945C>A	c.(1945-1947)Cct>Act	p.P649T	NRCAM_ENST00000413765.2_Missense_Mutation_p.P630T|NRCAM_ENST00000379024.4_Missense_Mutation_p.P630T|NRCAM_ENST00000379022.4_Missense_Mutation_p.P649T|NRCAM_ENST00000425651.2_Missense_Mutation_p.P649T|NRCAM_ENST00000351718.4_Missense_Mutation_p.P633T			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	649	Fibronectin type-III 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.P649T(2)|p.P633T(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCAAAGGGAGGATTTGGGACA	0.448000													137	109					7.03087e-97	1.46175e-96	1	1	0
RSPH4A	345895	broad.mit.edu	37	6	116938033	116938033	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:116938033G>T	ENST00000229554.5	+	1	384	c.247G>T	c.(247-249)Gct>Tct	p.A83S	RSPH4A_ENST00000368581.4_Missense_Mutation_p.A83S|RSPH4A_ENST00000368580.4_Missense_Mutation_p.A83S	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	83					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.A83S(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATCATCACCTGCTCCTGTCTC	0.647000									Kartagener syndrome				26	35					5.60225e-13	6.9829e-13	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117061553	117061553	+	Splice_Site	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:117061553C>G	ENST00000355044.3	+	17	2944	c.2818_splice	c.e17+1	p.P940_splice	ATRNL1_ENST00000423111.2_Splice_Site_p.P37_splice|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	940						integral to membrane	sugar binding	p.P940A(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CACCTGCTCCCGTAAGTATTT	0.358000													69	322					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100606797	100606797	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:100606797C>A	ENST00000319509.7	+	4	1887	c.1887C>A	c.(1885-1887)tcC>tcA	p.S629S						mucin 3A, cell surface associated									p.S629S(4)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AGATCCTGTCCCTGAGGTAGG	0.507000													5	6					8.12818e-05	8.77911e-05	1	1	0
LYZL2	119180	broad.mit.edu	37	10	30918543	30918543	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:30918543C>A	ENST00000375318.2	-	1	148	c.92G>T	c.(91-93)gGc>gTc	p.G31V		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.G31V(2)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				ATTCCTGGTGCCTGCCGCAGA	0.522000													47	142					4.1673e-28	6.56288e-28	1	1	0
SLC14A2	8170	broad.mit.edu	37	18	43249375	43249375	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:43249375G>C	ENST00000255226.6	+	16	2957	c.2141G>C	c.(2140-2142)gGc>gCc	p.G714A	SLC14A2_ENST00000589658.1_Missense_Mutation_p.G191A|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.G714A	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	714						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.G714A(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGCCACGGGCCACTACAAC	0.557000													123	399					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50900255	50900255	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr22:50900255C>A	ENST00000380817.2	-	21	2796	c.2613G>T	c.(2611-2613)cgG>cgT	p.R871R	SBF1_ENST00000348911.6_Silent_p.R872R|SBF1_ENST00000390679.3_Silent_p.R871R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	871					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	p.R871R(4)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGGCTCTCCCGCTGCACGG	0.647000													8	9					0.00829132	0.00860204	1	1	0
TYRP1	7306	broad.mit.edu	37	9	12708116	12708116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:12708116G>T	ENST00000388918.5	+	7	1510	c.1381G>T	c.(1381-1383)Gga>Tga	p.G461*	TYRP1_ENST00000381137.2_Nonsense_Mutation_p.G170*|TYRP1_ENST00000473504.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Nonsense_Mutation_p.G171*	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	461					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.G461*(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AGACAACCTGGGATACACTTA	0.388000									Oculocutaneous Albinism				47	118					9.86064e-34	1.65181e-33	1	1	0
BAI1	575	broad.mit.edu	37	8	143623594	143623594	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:143623594G>T	ENST00000517894.1	+	28	4893	c.3999G>T	c.(3997-3999)ctG>ctT	p.L1333L	BAI1_ENST00000323289.5_Silent_p.L1333L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1333					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.L1333L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACTCGGAGCTGAGCCGGGCCC	0.642000													16	9					8.04996e-18	1.11428e-17	1	1	0
BPIFB3	359710	broad.mit.edu	37	20	31659079	31659079	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr20:31659079C>A	ENST00000375494.3	+	12	1238	c.1238C>A	c.(1237-1239)tCc>tAc	p.S413Y		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	413					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	p.S413Y(1)									AAGGTGGCCTCCTCCTTTACC	0.617000													3	11					0.00024832	0.000266564	1	1	0
DAOA-AS1	282706	broad.mit.edu	37	13	106118506	106118506	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:106118506C>A	ENST00000448407.1	-	0	739					NR_040247.1																						gagctacaccccaaattagtg	0.428000													6	4					0.0215528	0.0219705	1	1	0
SLC5A9	200010	broad.mit.edu	37	1	48694626	48694626	+	Splice_Site	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:48694626C>T	ENST00000236495.5	+	3	389	c.339_splice	c.e3+1	p.N113_splice	RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000533824.1_Splice_Site_p.N113_splice|SLC5A9_ENST00000438567.2_Splice_Site_p.N113_splice|SLC5A9_ENST00000420136.2_Splice_Site_p.N106_splice	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	113						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	p.N106N(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TCGAGTGGAACGTAAGGAAGC	0.582000													9	159					0	0	1	0	0
ISYNA1	51477	broad.mit.edu	37	19	18546722	18546722	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:18546722T>C	ENST00000545187.1	-	5	821	c.535A>G	c.(535-537)Atc>Gtc	p.I179V	ISYNA1_ENST00000338128.7_Missense_Mutation_p.I329V|ISYNA1_ENST00000578963.1_Missense_Mutation_p.I201V|ISYNA1_ENST00000317018.6_Missense_Mutation_p.I127V|ISYNA1_ENST00000457269.3_Missense_Mutation_p.I275V			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	329					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	p.I329V(2)		breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TAACTCACGATGGACATGGTC	0.627000													10	22					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48654949	48654949	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:48654949G>A	ENST00000435803.1	+	59	14837	c.14813G>A	c.(14812-14814)gGt>gAt	p.G4938D	ABCA13_ENST00000544596.1_Missense_Mutation_p.G668D	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4938	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.G4883D(1)|p.G4938D(1)		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						AAATGTCTTGGTTCTCCTCAG	0.418000													10	36					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418193	38418193	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:38418193G>T	ENST00000322350.5	+	12	1866	c.1520G>T	c.(1519-1521)cGg>cTg	p.R507L	EGFLAM_ENST00000354891.3_Missense_Mutation_p.R507L|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R273L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	507	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.R507L(4)		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)					ATTACTTTCCGGACACCTCTC	0.453000													87	274					2.64469e-62	5.07704e-62	1	1	0
TMEM143	55260	broad.mit.edu	37	19	48845850	48845850	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:48845850G>A	ENST00000293261.3	-	6	1228	c.912C>T	c.(910-912)ctC>ctT	p.L304L	TMEM143_ENST00000435956.3_Silent_p.L269L|TMEM143_ENST00000541566.1_Silent_p.L194L|TMEM143_ENST00000436660.2_Silent_p.L239L|TMEM143_ENST00000377431.2_Silent_p.L204L	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	304						integral to membrane|mitochondrion		p.L304L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TGGCCACCTTGAGGTCGGTTA	0.672000													25	90					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319419	31319419	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:31319419C>A	ENST00000269197.5	+	11	2051	c.2051C>A	c.(2050-2052)tCc>tAc	p.S684Y		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	684	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.S391Y(2)|p.S684Y(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTCCAATATCCACTTCACCT	0.363000													77	110					2.73218e-42	4.82258e-42	1	1	0
PGLYRP4	57115	broad.mit.edu	37	1	153312856	153312856	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:153312856C>A	ENST00000368739.3	-	7	1171		c.e7+1		PGLYRP4_ENST00000359650.5_Splice_Site			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4						defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.?(3)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACCCACTCACTTATAACCAA	0.512000													138	203					3.14662e-72	6.29324e-72	1	1	0
DMP1	1758	broad.mit.edu	37	4	88584230	88584230	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:88584230C>A	ENST00000339673.6	+	6	1399	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K	DMP1_ENST00000282479.7_Missense_Mutation_p.Q418K|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	434					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.Q434K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GGAGGGCCTCCAGTCTCACAG	0.547000													52	121					8.99859e-20	1.27926e-19	1	1	0
FBLN2	2199	broad.mit.edu	37	3	13679148	13679148	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:13679148C>T	ENST00000404922.3	+	18	3544	c.3425C>T	c.(3424-3426)aCg>aTg	p.T1142M	FBLN2_ENST00000295760.7_Missense_Mutation_p.T1095M|FBLN2_ENST00000535798.1_Missense_Mutation_p.T1121M|FBLN2_ENST00000492059.1_Missense_Mutation_p.T1142M	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1095	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.T561M(2)|p.T1142M(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AACTTCCAGACGGGCCTCCTG	0.627000													17	23					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10420009	10420009	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:10420009G>A	ENST00000397077.1	-	9	1568	c.993C>T	c.(991-993)gcC>gcT	p.A331A	ATP2B2_ENST00000352432.4_Silent_p.A376A|ATP2B2_ENST00000343816.4_Silent_p.A362A|ATP2B2_ENST00000383800.4_Silent_p.A331A|ATP2B2_ENST00000360273.2_Silent_p.A376A			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	376					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.A376A(2)|p.A331A(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGTGCATGCTGGCCTTCTTCC	0.647000													16	71					0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87018101	87018101	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:87018101C>A	ENST00000398399.2	-	3	939	c.576G>T	c.(574-576)ctG>ctT	p.L192L	VGLL3_ENST00000383698.3_Silent_p.L192L	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.L192L(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGTCTGATGCAGGTTGTGTC	0.582000													24	126					2.70662e-09	3.17078e-09	1	1	0
RRN3P2	653390	broad.mit.edu	37	16	29107532	29107532	+	RNA	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:29107532T>A	ENST00000564580.1	+	0	924																		p.A285A(2)									GGCAGGCTGCTGGAAATTATA	0.373000													11	41					0	0	1	0	0
DDIT3	1649	broad.mit.edu	37	12	57910683	57910683	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:57910683C>A	ENST00000551116.1	-	4	755	c.488G>T	c.(487-489)cGg>cTg	p.R163L	DDIT3_ENST00000552740.1_Missense_Mutation_p.R163L|DDIT3_ENST00000547303.1_Missense_Mutation_p.R140L|DDIT3_ENST00000346473.3_Missense_Mutation_p.R140L	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	140					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	p.R140L(2)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						CTGCTTGAGCCGTTCATTCTC	0.537000			T	FUS	liposarcoma								35	87					4.34311e-12	5.33756e-12	1	1	0
AHSG	197	broad.mit.edu	37	3	186335082	186335082	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:186335082C>A	ENST00000411641.2	+	4	735	c.516C>A	c.(514-516)aaC>aaA	p.N172K	AHSG_ENST00000273784.5_Missense_Mutation_p.N173K			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	172	Cystatin fetuin-A-type 2.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).	acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	p.N172K(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCGCCTTCAACGCTCAGAACA	0.602000											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	163					1.45844e-13	1.83088e-13	1	1	0
OR2M2	391194	broad.mit.edu	37	1	248343333	248343333	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:248343333G>T	ENST00000359682.2	+	1	46	c.46G>T	c.(46-48)Gga>Tga	p.G16*		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATCCTCCTTGGAATCTTCAA	0.438000													149	881					1.46925e-46	2.62865e-46	1	1	0
SUN1	23353	broad.mit.edu	37	7	912908	912908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:912908G>A	ENST00000456758.2	+	25	2865	c.2865G>A	c.(2863-2865)tgG>tgA	p.W955*	SUN1_ENST00000389574.3_Nonsense_Mutation_p.W683*|SUN1_ENST00000413514.2_Nonsense_Mutation_p.W564*|SUN1_ENST00000452783.2_Nonsense_Mutation_p.W663*|SUN1_ENST00000405266.1_Nonsense_Mutation_p.W803*|SUN1_ENST00000401592.1_Nonsense_Mutation_p.W766*|SUN1_ENST00000425407.2_Nonsense_Mutation_p.W683*			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	793					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	p.W766*(2)|p.W683*(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCTAACTGGGGCCATCCTG	0.388000											OREG0017816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	137					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237540714	237540714	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:237540714C>G	ENST00000366574.2	+	8	872	c.555C>G	c.(553-555)agC>agG	p.S185R	RYR2_ENST00000542537.1_Missense_Mutation_p.S169R|RYR2_ENST00000360064.6_Missense_Mutation_p.S183R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	185	MIR 2.				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	p.S183R(2)		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)			TCTTAGTTAGCGTGTCCTCTG	0.423000													83	103					0	0	1	0	0
FAM124A	220108	broad.mit.edu	37	13	51855350	51855350	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:51855350G>A	ENST00000322475.8	+	4	1734	c.1599G>A	c.(1597-1599)tcG>tcA	p.S533S	FAM124A_ENST00000280057.6_Silent_p.S569S	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	533								p.S569S(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCCCAGGGTCGGCTGGCCCCG	0.577000													49	93					0	0	1	0	0
AKR1E2	83592	broad.mit.edu	37	10	4875556	4875556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:4875556C>A	ENST00000298375.7	+	3	293	c.222C>A	c.(220-222)tgC>tgA	p.C74*	AKR1E2_ENST00000334019.4_Nonsense_Mutation_p.C74*|AKR1E2_ENST00000532248.1_Nonsense_Mutation_p.C74*|AKR1E2_ENST00000345253.5_Nonsense_Mutation_p.C74*|AKR1E2_ENST00000525281.1_Intron	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	74						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.C74*(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						GGTGCACCTGCCATAAGAAGT	0.532000													26	55					4.74835e-14	6.12165e-14	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32633201	32633201	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:32633201G>T	ENST00000242310.4	-	1	2466	c.2377C>A	c.(2377-2379)Cgg>Agg	p.R793R		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	793					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R793R(2)|p.R793W(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACTAATTCCCGAATATAGTAA	0.438000													50	242					2.17126e-26	3.34921e-26	1	1	0
UGT1A10	54575	broad.mit.edu	37	2	234545808	234545808	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:234545808T>A	ENST00000344644.5	+	1	709	c.640T>A	c.(640-642)Ttg>Atg	p.L214M	UGT1A10_ENST00000373445.1_Missense_Mutation_p.L214M|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1												p.L214M(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		CATCGTGCACTTGGAGGACCA	0.453000													157	781					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50586248	50586248	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:50586248G>A	ENST00000547825.1	-	3	1490	c.221C>T	c.(220-222)cCc>cTc	p.P74L	LIMA1_ENST00000552491.1_Missense_Mutation_p.P74L|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552823.1_Missense_Mutation_p.P216L|LIMA1_ENST00000341247.4_Missense_Mutation_p.P376L|LIMA1_ENST00000552783.1_Missense_Mutation_p.P217L|LIMA1_ENST00000394943.3_Missense_Mutation_p.P377L|LIMA1_ENST00000552909.1_Missense_Mutation_p.P216L	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	376					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.P376I(2)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CATTGCTTTGGGAGGAGAACT	0.448000													37	91					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851670	14851670	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:14851670G>C	ENST00000358984.4	+	36	3550	c.3370G>C	c.(3370-3372)Gct>Cct	p.A1124P		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1209								p.A1124P(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAAAGAATGCTGAACTTCA	0.373000													6	44					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55593452	55593452	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:55593452T>A	ENST00000288135.5	+	10	1706	c.1609T>A	c.(1609-1611)Tgc>Agc	p.C537S		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	537					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	p.C537S(2)		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)	TGGCATGATGTGCATTATTGT	0.383000		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				206	594					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42988648	42988648	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:42988648G>T	ENST00000253408.5	-	6	1148	c.1083C>A	c.(1081-1083)atC>atA	p.I361I	GFAP_ENST00000435360.2_Silent_p.I361I|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.I361I	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	361	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.I361I(4)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGCGATCTCGATGTCCAGGG	0.632000													23	34					9.86323e-18	1.3617e-17	1	1	0
IL3RA	3563	broad.mit.edu	37	X	1460672	1460672	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:1460672G>T	ENST00000331035.4	+	2	363	c.14G>T	c.(13-15)tGg>tTg	p.W5L	IL3RA_ENST00000381469.2_Missense_Mutation_p.W5L	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	5						integral to membrane|plasma membrane	interleukin-3 receptor activity	p.W5L(2)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTCCTCCTTTGGCTCACGCTG	0.607000													66	91					7.33394e-39	1.2648e-38	1	1	0
TET1	80312	broad.mit.edu	37	10	70405010	70405010	+	Missense_Mutation	SNP	A	A	G	rs77500190		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:70405010A>G	ENST00000373644.4	+	4	2733	c.2524A>G	c.(2524-2526)Atc>Gtc	p.I842V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	842					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.I842V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTCACACTCCATCATAAATCA	0.398000													133	407					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128452070	128452070	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:128452070G>T	ENST00000297788.4	+	13	2612	c.2245G>T	c.(2245-2247)Ggt>Tgt	p.G749C	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	749						integral to membrane	protein binding	p.G749F(4)|p.G749S(2)|p.G865F(2)|p.G865S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAAGAGCTATGGTAGCATGGT	0.498000													103	113					5.16181e-52	9.46031e-52	1	1	0
PZP	5858	broad.mit.edu	37	12	9301592	9301592	+	Splice_Site	SNP	T	T	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:9301592T>G	ENST00000261336.2	-	36	4455		c.e36-2		PZP_ENST00000381997.2_Splice_Site	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.?(4)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GCTCTGTATCTATGGAGAAAA	0.413000													56	112					0	0	1	0	0
FRG1	2483	broad.mit.edu	37	4	190876250	190876250	+	Missense_Mutation	SNP	G	G	T	rs146824996	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:190876250G>T	ENST00000226798.4	+	5	598	c.376G>T	c.(376-378)Gtt>Ttt	p.V126F	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	126					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.V126F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGGACTTGTTGTTGGGCGTTC	0.353000													11	148					4.7546e-09	5.54528e-09	1	1	0
FGD6	55785	broad.mit.edu	37	12	95602937	95602937	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:95602937C>A	ENST00000343958.4	-	2	2346	c.2123G>T	c.(2122-2124)cGg>cTg	p.R708L	FGD6_ENST00000549499.1_Missense_Mutation_p.R708L|FGD6_ENST00000546711.1_Missense_Mutation_p.R708L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	708					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.R708L(2)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGTCTGGCCCCGAGACTTCTT	0.478000													31	55					1.45844e-13	1.83088e-13	1	1	0
P4HTM	54681	broad.mit.edu	37	3	49027918	49027918	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:49027918G>A	ENST00000343546.4	+	1	597	c.229G>A	c.(229-231)Gcg>Acg	p.A77T	P4HTM_ENST00000383729.4_Missense_Mutation_p.A77T	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	77						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.A77T(2)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TAACGTGCTGGCGCTGCTGCT	0.682000													5	12					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407380	105407380	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:105407380G>C	ENST00000333244.5	-	7	14527	c.14408C>G	c.(14407-14409)gCc>gGc	p.A4803G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4803						nucleus		p.A4803G(2)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGGGCCAAGGCAGCTCTGGG	0.517000													6	13					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064372	7064372	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:7064372G>T	ENST00000299481.4	+	4	1461	c.1115G>T	c.(1114-1116)tGc>tTc	p.C372F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	372	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.C372F(2)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCCCTAGTGTGCTGGGCCGCT	0.443000													71	336					1.59627e-33	2.65708e-33	1	1	0
ZNF135	7694	broad.mit.edu	37	19	58579730	58579730	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:58579730G>A	ENST00000506786.1	+	5	2306	c.1752G>A	c.(1750-1752)agG>agA	p.R584R	ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000401053.4_Silent_p.R650R|ZNF135_ENST00000511556.1_Silent_p.R638R|ZNF135_ENST00000439855.2_Silent_p.R626R|ZNF135_ENST00000313434.5_Silent_p.R626R			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	638					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R650K(2)|p.R626K(2)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGCACCGGAGGATCCACACAG	0.542000													9	72					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56516040	56516040	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:56516040G>A	ENST00000370754.5	-	10	1117	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L	DST_ENST00000370769.4_Missense_Mutation_p.P195L|DST_ENST00000370788.2_Missense_Mutation_p.P195L|DST_ENST00000361203.3_Missense_Mutation_p.P195L|DST_ENST00000312431.6_Missense_Mutation_p.P195L|DST_ENST00000421834.2_Missense_Mutation_p.P195L			Q03001	DYST_HUMAN	dystonin	195					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.P195M(2)|p.P373M(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATCAGGTCCGGCCTAGGAAA	0.328000													19	26					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216369952	216369952	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:216369952G>T	ENST00000366943.2	-	19	4580	c.4194C>A	c.(4192-4194)gaC>gaA	p.D1398E	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.D1398E|USH2A_ENST00000307340.3_Missense_Mutation_p.D1398E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1398	Fibronectin type-III 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D1398E(2)		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)		GCATATTGATGTCATACCCCA	0.413000										HNSCC(13;0.011)			127	247					3.67065e-75	7.39755e-75	1	1	0
WDR7	23335	broad.mit.edu	37	18	54694337	54694337	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:54694337G>T	ENST00000254442.3	+	28	4583	c.4372G>T	c.(4372-4374)Ggc>Tgc	p.G1458C	WDR7_ENST00000589935.1_Missense_Mutation_p.G35C|WDR7_ENST00000357574.3_Missense_Mutation_p.G1425C	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1458								p.G1458C(2)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CGCGTCCCCCGGCTCCCACAA	0.617000													10	48					5.50884e-06	6.10031e-06	1	1	0
LTF	4057	broad.mit.edu	37	3	46496816	46496816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:46496816C>A	ENST00000231751.4	-	5	911	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	LTF_ENST00000426532.2_Nonsense_Mutation_p.E162*|LTF_ENST00000417439.1_Nonsense_Mutation_p.E206*	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	206	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.Q205_E206>H*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AAGTACGGTTCCTGGGAGGAG	0.582000													36	106					1.07121e-22	1.59619e-22	1	1	0
C2orf71	388939	broad.mit.edu	37	2	29295827	29295827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:29295827C>A	ENST00000331664.5	-	1	1300	c.1301G>T	c.(1300-1302)tGc>tTc	p.C434F		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	434					response to stimulus|visual perception	photoreceptor outer segment		p.C434F(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACTGGAGAGGCATGGGCTCCT	0.567000													28	21					1.68575e-08	1.9531e-08	1	1	0
PRKCB	5579	broad.mit.edu	37	16	24166178	24166178	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:24166178G>T	ENST00000303531.7	+	10	1391	c.1239_splice	c.e10+1	p.M413_splice	PRKCB_ENST00000321728.7_Splice_Site_p.M413_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	413	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.M413N(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCCAGACCATGGTAACTTGTC	0.582000													47	39					1.44317e-28	2.28647e-28	1	1	0
SPATA5	166378	broad.mit.edu	37	4	123868550	123868550	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:123868550C>T	ENST00000274008.3	+	9	1690	c.1621C>T	c.(1621-1623)Ccc>Tcc	p.P541S	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	541					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	p.P541S(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCGAAGGGTACCCCATTTGCT	0.493000													101	239					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154411267	154411267	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:154411267C>A	ENST00000414028.2	+	2	647	c.597C>A	c.(595-597)gcC>gcA	p.A199A	OPRM1_ENST00000229768.5_Silent_p.A199A|OPRM1_ENST00000518759.1_Silent_p.A118A|OPRM1_ENST00000337049.4_Silent_p.A199A|OPRM1_ENST00000435918.2_Silent_p.A199A|OPRM1_ENST00000522555.1_Silent_p.A99A|OPRM1_ENST00000419506.2_Silent_p.A199A|OPRM1_ENST00000520708.1_Silent_p.A99A|OPRM1_ENST00000360422.4_Silent_p.A199A|OPRM1_ENST00000434900.2_Silent_p.A292A|OPRM1_ENST00000524163.1_Silent_p.A199A|OPRM1_ENST00000330432.7_Silent_p.A199A|OPRM1_ENST00000428397.2_Silent_p.A199A|OPRM1_ENST00000522236.1_Silent_p.A99A|OPRM1_ENST00000452687.2_Silent_p.A199A	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	199					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.A199A(4)|p.A292A(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCTCTTCAGCCATTGGTCTTC	0.468000													109	144					6.1095e-40	1.06059e-39	1	1	0
ARHGAP6	395	broad.mit.edu	37	X	11196361	11196361	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:11196361C>T	ENST00000337414.4	-	8	2360	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E	ARHGAP6_ENST00000534860.1_Silent_p.E321E|ARHGAP6_ENST00000380736.1_Silent_p.E293E|ARHGAP6_ENST00000380718.1_Silent_p.E496E|ARHGAP6_ENST00000380732.3_Silent_p.E528E|ARHGAP6_ENST00000303025.6_Silent_p.E293E|ARHGAP6_ENST00000413512.3_Silent_p.E305E|ARHGAP6_ENST00000491514.1_5'UTR	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	496	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.E496E(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTTCCTCCGGCTCCAACACTA	0.522000													16	32					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52788890	52788890	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:52788890C>A	ENST00000257974.2	-	9	1488	c.1411G>T	c.(1411-1413)Ggc>Tgc	p.G471C	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	471	Tail.					keratin filament	protein binding|structural constituent of epidermis	p.G471C(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		ATGCTGCAGCCCCCATTGCTC	0.632000													6	37					2.0095e-06	2.25372e-06	1	1	0
SNPH	9751	broad.mit.edu	37	20	1286120	1286120	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr20:1286120G>T	ENST00000381867.1	+	7	1681	c.1039G>T	c.(1039-1041)Ggt>Tgt	p.G347C	SNPH_ENST00000381873.3_Missense_Mutation_p.G303C			O15079	SNPH_HUMAN	syntaphilin	303					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	p.G303C(2)|p.G347C(2)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CATGGAGGCTGGTGTGCAGGC	0.627000													14	16					6.49762e-13	8.06073e-13	1	1	0
KCNK3	3777	broad.mit.edu	37	2	26950707	26950707	+	Silent	SNP	C	C	T	rs112956865		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:26950707C>T	ENST00000302909.3	+	2	581	c.456C>T	c.(454-456)gcC>gcT	p.A152A		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	152					synaptic transmission	integral to plasma membrane		p.A152A(1)		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGGCGCGCCGACGTGTCCA	0.647000													5	38					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462598	5462598	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:5462598G>A	ENST00000345221.3	-	4	1972	c.1418C>T	c.(1417-1419)gCa>gTa	p.A473V	NLRP1_ENST00000354411.3_Missense_Mutation_p.A473V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A473V|NLRP1_ENST00000262467.5_Missense_Mutation_p.A473V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A473V|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.A473V	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	473	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.A473V(6)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TACCCAACGTGCCTGCTCCAA	0.502000													20	37					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156376676	156376676	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:156376676A>C	ENST00000274532.2	-	4	802	c.746T>G	c.(745-747)cTg>cGg	p.L249R	TIMD4_ENST00000407087.3_Missense_Mutation_p.L249R	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	249	Ser-rich.					integral to membrane		p.L249R(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGATGTCAGCAGGACAGTGTC	0.458000													26	116					0	0	1	0	0
CD28	940	broad.mit.edu	37	2	204571325	204571325	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:204571325T>C	ENST00000458610.2	+	1	79	c.79T>C	c.(79-81)Tct>Cct	p.S27P	CD28_ENST00000324106.7_5'UTR|CD28_ENST00000374481.3_5'UTR			P10747	CD28_HUMAN	CD28 molecule	13					cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TGACGGAGACTCTCAGGCCTT	0.587000													4	38					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981463	70981463	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:70981463G>T	ENST00000276594.2	-	2	834	c.633C>A	c.(631-633)ccC>ccA	p.P211P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P211P(2)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCTCCAGGCTGGGAGTGACCC	0.592000													26	19					1.39806e-14	1.82476e-14	1	1	0
ACSL6	23305	broad.mit.edu	37	5	131323839	131323839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:131323839C>A	ENST00000379264.2	-	7	841	c.733G>T	c.(733-735)Ggc>Tgc	p.G245C	ACSL6_ENST00000296869.4_Missense_Mutation_p.G245C|ACSL6_ENST00000431707.1_Missense_Mutation_p.G200C|ACSL6_ENST00000379246.1_Missense_Mutation_p.G231C|ACSL6_ENST00000544770.1_Missense_Mutation_p.G129C|ACSL6_ENST00000379244.1_Missense_Mutation_p.G220C|ACSL6_ENST00000357096.1_Missense_Mutation_p.G185C|ACSL6_ENST00000379240.1_Missense_Mutation_p.G220C|ACSL6_ENST00000543479.1_Missense_Mutation_p.G220C|ACSL6_ENST00000379255.1_Missense_Mutation_p.G185C|ACSL6_ENST00000379272.2_Missense_Mutation_p.G235C|ACSL6_ENST00000379249.3_Missense_Mutation_p.G220C	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	220					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G245F(4)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCTTGAGGCCTGGAGTCTCC	0.562000													169	201					1.99794e-63	3.84951e-63	1	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103229014	103229014	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:103229014G>T	ENST00000375735.2	+	83	12227	c.12083G>T	c.(12082-12084)gGt>gTt	p.G4028V	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G4035V|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4028					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.G1468V(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATAACAGCTGGTTCCAAATTT	0.353000													15	17					1.96895e-08	2.2712e-08	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47530541	47530541	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:47530541G>T	ENST00000426342.1	-	7	1288	c.542C>A	c.(541-543)aCg>aAg	p.T181K	MDGA2_ENST00000399232.2_Missense_Mutation_p.T479K|MDGA2_ENST00000439988.2_Missense_Mutation_p.T410K|MDGA2_ENST00000357362.3_Missense_Mutation_p.T181K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	410	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.T181K(4)|p.T479K(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCAAAATCCGTGAATTTTAA	0.428000													133	184					5.91622e-87	1.22037e-86	1	1	0
PARVG	64098	broad.mit.edu	37	22	44581730	44581730	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr22:44581730C>A	ENST00000422871.1	+	4	546	c.122C>A	c.(121-123)cCc>cAc	p.P41H	PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000415224.1_Missense_Mutation_p.P41H|PARVG_ENST00000444313.2_Missense_Mutation_p.P41H	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	41					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P41H(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CGGAAGGACCCCAAATTTGAA	0.612000													7	7					0.00448238	0.00468734	1	1	0
HTR1A	3350	broad.mit.edu	37	5	63257347	63257347	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:63257347A>T	ENST00000323865.3	-	1	433	c.200T>A	c.(199-201)cTg>cAg	p.L67Q	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	67					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.L67Q(2)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CACGTTCTGCAGGGAGCGCTC	0.602000													19	39					0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247058	56247058	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:56247058C>A	ENST00000545221.1	+	1	42	c.42C>A	c.(40-42)ttC>ttA	p.F14L		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F14L(2)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACTTTGTCTTCCTGGGGCTCT	0.458000													33	130					1.67305e-13	2.09529e-13	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3072046	3072046	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:3072046A>C	ENST00000520002.1	-	31	5398	c.4843T>G	c.(4843-4845)Tgg>Ggg	p.W1615G	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.W1615G|CSMD1_ENST00000400186.3_Missense_Mutation_p.W1615G|CSMD1_ENST00000602557.1_Missense_Mutation_p.W1615G|CSMD1_ENST00000542608.1_Missense_Mutation_p.W1614G|CSMD1_ENST00000539096.1_Missense_Mutation_p.W1614G|CSMD1_ENST00000537824.1_Missense_Mutation_p.W1614G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1615	Sushi 9.					integral to membrane		p.W1343G(1)|p.W1614G(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTTGGTCCCAGGAGGGTTTC	0.483000													10	57					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29287786	29287786	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:29287786G>T	ENST00000331664.5	-	2	3815	c.3816C>A	c.(3814-3816)atC>atA	p.I1272I		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1272					response to stimulus|visual perception	photoreceptor outer segment		p.I1272I(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ATTTGTCCTGGATGTGGCCGG	0.662000													5	10					0.0215528	0.0219705	1	1	0
PILRB	29990	broad.mit.edu	37	7	99956501	99956501	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:99956501A>T	ENST00000310771.4	+	16	2749	c.253A>T	c.(253-255)Agg>Tgg	p.R85W	PILRB_ENST00000444073.1_Missense_Mutation_p.R85W|PILRB_ENST00000444874.1_Intron|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000452089.1_Missense_Mutation_p.R85W			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	85	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	p.R85W(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTACAGCACAAGGCCGCCTTC	0.547000													12	61					0	0	1	0	0
GNRHR	2798	broad.mit.edu	37	4	68619638	68619638	+	Missense_Mutation	SNP	C	C	T	rs104893842		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:68619638C>T	ENST00000226413.4	-	1	440	c.416G>A	c.(415-417)cGc>cAc	p.R139H	RP11-453E17.1_ENST00000502758.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.R139H	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	139			R -> H (in IHH; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro).		multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	p.R139H(2)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	AGCCAGGGAGCGGTCCAGGCT	0.512000													27	148					0	0	1	0	0
CLEC1A	51267	broad.mit.edu	37	12	10226002	10226002	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:10226002G>T	ENST00000315330.4	-	5	614	c.552C>A	c.(550-552)gcC>gcA	p.A184A	CLEC1A_ENST00000457018.2_Silent_p.A151A|CLEC1A_ENST00000420265.2_Silent_p.A92A	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	184	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	p.A184A(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TCTGAGACGCGGCAAATTCCT	0.483000													35	151					8.16277e-20	1.16358e-19	1	1	0
SPAG16	79582	broad.mit.edu	37	2	214162030	214162030	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:214162030G>T	ENST00000374309.3	+	2	65	c.65G>T	c.(64-66)tGg>tTg	p.W22L	SPAG16_ENST00000432529.2_Silent_p.L76L|SPAG16_ENST00000447990.1_Silent_p.L76L|SPAG16_ENST00000331683.5_Silent_p.L76L|SPAG16_ENST00000272898.7_Silent_p.L76L|SPAG16_ENST00000413312.1_Silent_p.L45L|SPAG16_ENST00000414961.2_3'UTR			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	0					cilium assembly	cilium axoneme|flagellar axoneme		p.L76L(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AAGAAGATCTGGCAAAAGCAA	0.373000													42	225					2.22609e-26	3.42375e-26	1	1	0
EP400	57634	broad.mit.edu	37	12	132446343	132446343	+	Missense_Mutation	SNP	G	G	C	rs141437491		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:132446343G>C	ENST00000333577.4	+	2	1288	c.1179G>C	c.(1177-1179)ttG>ttC	p.L393F	EP400_ENST00000330386.6_Missense_Mutation_p.L393F|EP400_ENST00000389561.2_Missense_Mutation_p.L393F|EP400_ENST00000389562.2_Missense_Mutation_p.L393F|EP400_ENST00000332482.4_Missense_Mutation_p.L393F			Q96L91	EP400_HUMAN	E1A binding protein p400	393					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.L393F(2)		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)		TGTTTTTCTTGCAACACTTTC	0.413000													12	52					0	0	1	0	0
PPM1H	57460	broad.mit.edu	37	12	63083523	63083523	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:63083523C>A	ENST00000228705.6	-	8	1501	c.1201G>T	c.(1201-1203)Gac>Tac	p.D401Y	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	401	PP2C-like.						phosphoprotein phosphatase activity	p.D401Y(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		ATGTTGGAGTCATGCACCTTC	0.458000													38	71					3.94638e-17	5.39167e-17	1	1	0
RASA3	22821	broad.mit.edu	37	13	114778667	114778667	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:114778667G>T	ENST00000334062.7	-	15	1584	c.1463C>A	c.(1462-1464)gCg>gAg	p.A488E	RASA3_ENST00000389544.4_Missense_Mutation_p.A456E	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	488	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	p.A488E(2)|p.A488V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AATGGCGGGCGCAAAGAACCT	0.617000													4	5					0.000602214	0.000639929	1	1	0
MUC17	140453	broad.mit.edu	37	7	100663463	100663463	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:100663463T>A	ENST00000306151.4	+	1	111	c.47T>A	c.(46-48)cTc>cAc	p.L16H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	16						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.L16H(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTTGGTCCTCTCGCTCTTG	0.652000													50	26					0	0	1	0	0
C5orf34	375444	broad.mit.edu	37	5	43503862	43503862	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:43503862C>A	ENST00000306862.2	-	5	1308	c.932_splice	c.e5-1	p.R311_splice	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	311								p.R311S(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					AAAAATTCCACCTGTGAAGGA	0.323000													6	169					0.0215528	0.0219705	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55761855	55761855	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:55761855C>G	ENST00000278409.1	-	1	246	c.247G>C	c.(247-249)Gca>Cca	p.A83P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A83P(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AATAAATCTGCCAGCATCTTT	0.458000													20	152					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158617395	158617395	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:158617395C>A	ENST00000368148.3	-	27	4010	c.3830G>T	c.(3829-3831)cGt>cTt	p.R1277L	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1277L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1277					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1277L(2)|p.R1277H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCTTTGTACGCCCCTGCAG	0.557000													32	176					2.81731e-10	3.36033e-10	1	1	0
KCNA2	3737	broad.mit.edu	37	1	111146880	111146880	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:111146880G>T	ENST00000485317.1	-	3	1198	c.525C>A	c.(523-525)atC>atA	p.I175I	KCNA2_ENST00000369770.3_Silent_p.I175I|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Silent_p.I175I|KCNA2_ENST00000316361.4_Silent_p.I175I			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	175						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.I175I(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TGACAATTGAGATCAGAATCA	0.463000													44	69					6.23363e-37	1.06113e-36	1	1	0
KIF21B	23046	broad.mit.edu	37	1	200978567	200978567	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:200978567T>A	ENST00000332129.2	-	2	407	c.91A>T	c.(91-93)Acc>Tcc	p.T31S	KIF21B_ENST00000461742.2_Missense_Mutation_p.T31S|KIF21B_ENST00000360529.5_Missense_Mutation_p.T31S|KIF21B_ENST00000422435.2_Missense_Mutation_p.T31S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	31	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.T31S(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTAACAGAGGTACAGATGTGA	0.592000													41	75					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61894041	61894041	+	Silent	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:61894041T>A	ENST00000280772.1	-	25	3020	c.2829A>T	c.(2827-2829)ccA>ccT	p.P943P	ANK3_ENST00000503366.1_Silent_p.P944P|ANK3_ENST00000373827.2_Silent_p.P937P|ANK3_ENST00000355288.2_Silent_p.P77P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	943					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.P578P(2)|p.P77P(2)|p.P943P(2)		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						GCTCTTTGGATGGCACAAGGA	0.398000													54	127					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50765580	50765580	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:50765580G>T	ENST00000404971.1	-	11	3413	c.2074C>A	c.(2074-2076)Caa>Aaa	p.Q692K	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.Q652K|NRXN1_ENST00000402717.3_Missense_Mutation_p.Q644K|NRXN1_ENST00000406316.2_Missense_Mutation_p.Q652K|NRXN1_ENST00000405472.3_Missense_Mutation_p.Q644K|NRXN1_ENST00000406859.3_Missense_Mutation_p.Q652K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	652	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.Q693K(2)|p.Q652K(2)|p.Q692K(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTTGCTTTGGCCATCGATG	0.507000													210	495					4.59961e-116	9.83493e-116	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130293212	130293212	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:130293212C>T	ENST00000358511.6	+	7	3421	c.3390C>T	c.(3388-3390)atC>atT	p.I1130I	COL6A6_ENST00000453409.2_Silent_p.I1130I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1130	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen		p.I1130I(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACAGAGGTATCGACATCTACT	0.552000													7	230					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922175	24922175	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr15:24922175G>T	ENST00000329468.2	+	1	1635	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.E387D(2)									ATAAAACAGAGACCATGACAA	0.527000													6	23					0.0293803	0.0297766	1	1	0
MOCOS	55034	broad.mit.edu	37	18	33793329	33793329	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:33793329G>T	ENST00000261326.5	+	7	1240	c.1218_splice	c.e7-1	p.V407_splice		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	407					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	p.V407L(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AAATCCGCAGGTGGACAAAAT	0.463000													24	100					8.16721e-17	1.10436e-16	1	1	0
LAMC3	10319	broad.mit.edu	37	9	133932444	133932444	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:133932444G>T	ENST00000361069.4	+	12	2201	c.2068G>T	c.(2068-2070)Gga>Tga	p.G690*	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	690	Laminin EGF-like 5; second part.				cell adhesion	basement membrane|membrane	structural molecule activity	p.G690*(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTGTGCTCCGGGATACAAGAG	0.617000													24	44					8.24728e-16	1.09271e-15	1	1	0
GRID2	2895	broad.mit.edu	37	4	94693324	94693324	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:94693324T>C	ENST00000282020.4	+	16	2957	c.2699T>C	c.(2698-2700)aTt>aCt	p.I900T	GRID2_ENST00000510992.1_Missense_Mutation_p.I805T	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	900					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.I900T(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACCTCGTCAATTGATTTGACC	0.453000													132	249					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55979649	55979649	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:55979649C>A	ENST00000263923.4	-	7	1094		c.e7-1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.?(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TATGCTGATGCTGAAAAAAAG	0.373000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			8	30					0.00621372	0.00645932	1	1	0
TLR4	7099	broad.mit.edu	37	9	120476354	120476354	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:120476354C>T	ENST00000355622.6	+	3	2049	c.1948C>T	c.(1948-1950)Ctg>Ttg	p.L650L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L610L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	650					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.L650L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGTAGCAGTTCTGGTCTATAA	0.428000													34	61					0	0	1	0	0
MAGOH	4116	broad.mit.edu	37	1	53692748	53692748	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:53692748A>G	ENST00000371470.3	-	5	571	c.410T>C	c.(409-411)aTt>aCt	p.I137T	MAGOH_ENST00000371466.4_Missense_Mutation_p.I100T	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	137					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	p.I137T(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						GTGTAATCCAATAAGACTGAA	0.378000													2	10					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542347	179542347	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:179542347C>A	ENST00000589042.1	-	146	34516		c.e146+1		TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(2)		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)			AGCTGCTATACCTGGTGCAGG	0.418000													12	26					1.05317e-09	1.2393e-09	1	1	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999276	112999276	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:112999276G>T	ENST00000271277.6	+	6	1387	c.1162G>T	c.(1162-1164)Gag>Tag	p.E388*		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	388						actin cytoskeleton	protein binding	p.E388*(2)|p.E388K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAACCAGTGGAGAATGGTGG	0.552000													78	127					1.13027e-35	1.91164e-35	1	1	0
TTC14	151613	broad.mit.edu	37	3	180327803	180327803	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:180327803G>T	ENST00000296015.4	+	12	1918	c.1786G>T	c.(1786-1788)Gat>Tat	p.D596Y	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron|TTC14_ENST00000465625.1_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	596							RNA binding	p.D596Y(2)|p.D596N(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TAGGTCTGAAGATCCAAGAGA	0.353000													24	150					1.5548e-18	2.17507e-18	1	1	0
SH2B1	25970	broad.mit.edu	37	16	28880417	28880417	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:28880417G>T	ENST00000337120.5	+	3	4423	c.1133_splice	c.e3+1	p.G378_splice	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Splice_Site_p.G68_splice|SH2B1_ENST00000538342.1_Splice_Site_p.G42_splice|SH2B1_ENST00000395532.4_Splice_Site_p.G378_splice|SH2B1_ENST00000359285.5_Splice_Site_p.G378_splice|SH2B1_ENST00000322610.8_Splice_Site_p.G378_splice	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	378	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.G378*(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCTGAGCCCAGGGTGAGAAGC	0.562000													6	107					5.68852e-11	6.86276e-11	1	1	0
CTNNA3	29119	broad.mit.edu	37	10	67726505	67726505	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:67726505C>A	ENST00000433211.1	-	17	2440		c.e17-1		CTNNA3_ENST00000373744.4_Splice_Site|CTNNA3_ENST00000373735.1_Splice_Site	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.?(4)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GATCTGGGCACTAAATATGAA	0.363000													16	68					3.41278e-10	4.06137e-10	1	1	0
EGFLAM	133584	broad.mit.edu	37	5	38418194	38418194	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:38418194G>C	ENST00000322350.5	+	12	1867	c.1521G>C	c.(1519-1521)cgG>cgC	p.R507R	EGFLAM_ENST00000354891.3_Silent_p.R507R|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Silent_p.R273R	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	507	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.R507L(4)		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)					TTACTTTCCGGACACCTCTCT	0.453000													89	276					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813237	176813237	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:176813237C>A	ENST00000324417.5	+	4	366	c.275C>A	c.(274-276)cCc>cAc	p.P92H	SLC34A1_ENST00000512593.1_Missense_Mutation_p.P92H	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	92					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.P92H(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			AGGCTGGTCCCCAAGCTGCGC	0.662000													30	41					2.51541e-25	3.83509e-25	1	1	0
GSN	2934	broad.mit.edu	37	9	124088797	124088797	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:124088797T>C	ENST00000373823.3	+	20	2329	c.1424T>C	c.(1423-1425)gTg>gCg	p.V475A	GSN_ENST00000373818.4_Missense_Mutation_p.V526A|GSN_ENST00000373808.2_Missense_Mutation_p.V475A|GSN_ENST00000341272.2_Missense_Mutation_p.V475A|GSN_ENST00000394353.2_Missense_Mutation_p.V486A|GSN_ENST00000436847.1_Missense_Mutation_p.V486A|GSN_ENST00000449733.1_Missense_Mutation_p.V475A|GSN_ENST00000412819.1_Missense_Mutation_p.V475A|GSN_ENST00000373807.1_Missense_Mutation_p.V257A|GSN_ENST00000545652.1_Missense_Mutation_p.V483A			P06396	GELS_HUMAN	gelsolin	526	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	p.V526A(2)|p.V475A(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CAGAGCCGTGTGGTCCAAGGC	0.637000													4	20					0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158368914	158368914	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:158368914G>T	ENST00000334438.1	-	1	342	c.343C>A	c.(343-345)Ctc>Atc	p.L115I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L115I(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ACAGCAATGAGGAGGCAGTTG	0.498000													43	193					6.21074e-16	8.24962e-16	1	1	0
SLC12A8	84561	broad.mit.edu	37	3	124802813	124802813	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:124802813T>A	ENST00000423114.2	-	14	2152	c.2153A>T	c.(2152-2154)gAg>gTg	p.E718V	SLC12A8_ENST00000314584.7_Missense_Mutation_p.E350V|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.E689V|SLC12A8_ENST00000430155.2_Missense_Mutation_p.E490V|SLC12A8_ENST00000393469.4_Missense_Mutation_p.E689V			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	689					potassium ion transport	integral to membrane	symporter activity	p.E727V(2)|p.E689V(2)		endometrium(2)|kidney(2)|lung(12)	16						GTCTGCATTCTCCTGGGTGAG	0.587000													32	57					0	0	1	0	0
ZNF621	285268	broad.mit.edu	37	3	40573808	40573808	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:40573808G>C	ENST00000339296.5	+	5	999	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.E183Q|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.E72Q	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E183Q(2)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TAAGTGTAAGGAGTGTGGCAA	0.403000													31	72					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799229	5799229	+	Silent	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:5799229A>T	ENST00000317093.2	-	1	668	c.636T>A	c.(634-636)gcT>gcA	p.A212A	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A212A(2)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CAATCAGGAGAGCAACCATTA	0.428000													97	679					0	0	1	0	0
FGF10	2255	broad.mit.edu	37	5	44305247	44305247	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:44305247A>T	ENST00000264664.4	-	3	591	c.477T>A	c.(475-477)aaT>aaA	p.N159K		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	159					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	p.N159K(2)		haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TATTGTATCCATTTTCCTCTA	0.378000													175	516					0	0	1	0	0
DHRS11	79154	broad.mit.edu	37	17	34951468	34951468	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:34951468C>T	ENST00000251312.5	+	2	427	c.215C>T	c.(214-216)tCa>tTa	p.S72L	DHRS11_ENST00000394445.1_3'UTR|DHRS11_ENST00000590554.1_5'UTR	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	72						extracellular region	binding|oxidoreductase activity	p.S72L(2)		endometrium(1)|lung(4)	5						TGTGACCTATCAAATGAAGAG	0.537000													22	109					0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3452610	3452610	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:3452610G>T	ENST00000589123.1	+	8	1308	c.1188G>T	c.(1186-1188)ccG>ccT	p.P396P	NFIC_ENST00000590282.1_Silent_p.P405P|NFIC_ENST00000586919.1_Silent_p.P372P|NFIC_ENST00000443272.2_Silent_p.P405P|NFIC_ENST00000395111.3_Silent_p.P396P|NFIC_ENST00000341919.3_Silent_p.P405P|NFIC_ENST00000346156.5_Silent_p.P372P	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	405					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P396P(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CCCAGGACCCGCTCAAAGATC	0.652000													3	16					0.004672	0.00487594	1	1	0
IFNL3	282617	broad.mit.edu	37	19	39734774	39734774	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:39734774C>G	ENST00000413851.2	-	3	320	c.282G>C	c.(280-282)ttG>ttC	p.L94F		NM_172139.2	NP_742151.2			interferon, lambda 3									p.L94F(2)									GCTCAGCCTCCAAAGCCACGG	0.637000													8	24					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37533689	37533689	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr22:37533689G>T	ENST00000216223.5	-	6	673	c.475C>A	c.(475-477)Cac>Aac	p.H159N		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	159	Fibronectin type-III.				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	p.H159N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCAAAGTAGTGGGAGGCTTGG	0.587000													14	68					3.27435e-08	3.76873e-08	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121650791	121650791	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:121650791C>G	ENST00000393386.2	+	12	2102	c.1691C>G	c.(1690-1692)tCt>tGt	p.S564C	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S564C	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	564					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.S564C(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATACAGTTTCTATAACAGAA	0.423000													65	64					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88337916	88337916	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:88337916A>G	ENST00000418177.2	-	5	1731	c.1364T>C	c.(1363-1365)cTa>cCa	p.L455P	GRM5_ENST00000305447.4_Missense_Mutation_p.L455P|GRM5_ENST00000393297.1_Missense_Mutation_p.L455P|GRM5_ENST00000305432.5_Missense_Mutation_p.L455P|GRM5_ENST00000455756.2_Missense_Mutation_p.L455P			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	455					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.L455P(4)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTCATCGAATAGGATCGTATC	0.433000													42	58					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150923125	150923125	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:150923125G>A	ENST00000261800.5	-	9	7575	c.7563C>T	c.(7561-7563)atC>atT	p.I2521I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2521	Cadherin 22.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.I2521I(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTAGTTTATTGATGATAGTAT	0.413000													40	157					0	0	1	0	0
GATA4	2626	broad.mit.edu	37	8	11607724	11607724	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:11607724C>G	ENST00000335135.4	+	4	1446	c.888C>G	c.(886-888)ggC>ggG	p.G296G	GATA4_ENST00000532059.1_Silent_p.G297G|GATA4_ENST00000528712.1_Silent_p.G90G	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	296			G -> S (in ASD2).		atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.G296G(2)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		ATGCCTGCGGCCTCTACATGA	0.637000													15	34					0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5141584	5141584	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:5141584G>T	ENST00000380554.3	+	5	1165	c.513G>T	c.(511-513)agG>agT	p.R171S	AKR1C3_ENST00000605149.1_Missense_Mutation_p.R148S|AKR1C3_ENST00000439082.2_Missense_Mutation_p.R52S	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	171					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.R171S(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TCAACCGCAGGCAGCTGGAGA	0.527000													104	216					6.99195e-59	1.31349e-58	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2876097	2876097	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:2876097G>C	ENST00000520002.1	-	53	8489	c.7934C>G	c.(7933-7935)gCt>gGt	p.A2645G	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.A2645G|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.A2644G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2645	Sushi 17.					integral to membrane		p.A2644G(2)|p.A2373G(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGTAAATATAGCTGTGGCCCC	0.483000													83	442					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432903	104432903	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:104432903G>T	ENST00000361820.3	-	3	2391	c.1791C>A	c.(1789-1791)ctC>ctA	p.L597L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	597					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.L597L(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTACAATATAGAGGTCGAAGT	0.453000													18	166					1.40151e-16	1.88541e-16	1	1	0
SCN3A	6328	broad.mit.edu	37	2	165984466	165984466	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:165984466C>A	ENST00000360093.3	-	18	3559	c.3068G>T	c.(3067-3069)cGg>cTg	p.R1023L	SCN3A_ENST00000283254.7_Missense_Mutation_p.R1023L|SCN3A_ENST00000409101.3_Missense_Mutation_p.R974L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1023						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1023L(2)|p.R974L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GAAACACTCCCGCATCTTATT	0.358000													23	45					1.55469e-16	2.08615e-16	1	1	0
DIAPH3	81624	broad.mit.edu	37	13	60490351	60490351	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:60490351C>A	ENST00000400324.4	-	19	2423	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Nonsense_Mutation_p.E665*|DIAPH3_ENST00000400320.1_Nonsense_Mutation_p.E689*|DIAPH3_ENST00000400330.1_Nonsense_Mutation_p.E735*|DIAPH3_ENST00000377908.2_Nonsense_Mutation_p.E724*|DIAPH3_ENST00000267215.4_Nonsense_Mutation_p.E735*	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	735	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.E735*(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTGATTTCCTCATATGGCACC	0.348000													86	202					2.29255e-20	3.29476e-20	1	1	0
USP16	10600	broad.mit.edu	37	21	30415863	30415863	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr21:30415863T>C	ENST00000334352.4	+	14	1530	c.1299T>C	c.(1297-1299)tcT>tcC	p.S433S	USP16_ENST00000399975.3_Silent_p.S432S|USP16_ENST00000535828.1_Silent_p.S62S|USP16_ENST00000399976.2_Silent_p.S433S	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	433					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.S433S(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						ATATTCCTTCTGGAACAAGTA	0.333000													23	159					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129674483	129674483	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:129674483C>T	ENST00000421865.2	+	32	4747	c.4698C>T	c.(4696-4698)cgC>cgT	p.R1566R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1566	Laminin EGF-like 17.				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	p.R1566R(2)		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)		GGCATGCACGCGAGGGCTGGG	0.537000													171	137					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9968420	9968420	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:9968420C>T	ENST00000264833.4	-	3	516	c.331G>A	c.(331-333)Gat>Aat	p.D111N	OLFM2_ENST00000590841.1_Missense_Mutation_p.D33N	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	111						extracellular region		p.D111N(3)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						AGGGACCCATCAGCTGCCCGG	0.577000													29	32					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58979381	58979381	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:58979381G>T	ENST00000361050.3	-	1	1043	c.958C>A	c.(958-960)Cct>Act	p.P320T		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	320	MACPF.					integral to membrane		p.P320T(2)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGCAAGTCAGGTAGCATGTTG	0.557000													62	78					1.20869e-33	2.01832e-33	1	1	0
ZNF845	91664	broad.mit.edu	37	19	53854476	53854476	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:53854476G>C	ENST00000458035.1	+	4	665	c.548G>C	c.(547-549)aGg>aCg	p.R183T	ZNF845_ENST00000595091.1_Missense_Mutation_p.R183T	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R183T(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATTTCTTGTAGGCCTAAAACC	0.373000													12	50					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396952	197396952	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:197396952G>T	ENST00000367397.1	+	3	1498	c.640G>T	c.(640-642)Ggt>Tgt	p.G214C	CRB1_ENST00000535699.1_Missense_Mutation_p.G764C|CRB1_ENST00000544212.1_Missense_Mutation_p.G314C|CRB1_ENST00000367400.3_Missense_Mutation_p.G833C|CRB1_ENST00000367399.2_Missense_Mutation_p.G721C|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	833	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.G833C(2)		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						CATCTACATTGGTGGCCTACC	0.378000													78	80					6.21051e-42	1.09255e-41	1	1	0
NF1	4763	broad.mit.edu	37	17	29657518	29657518	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:29657518T>A	ENST00000358273.4	+	39	6195		c.e39+2		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(7)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCAAATCTAGTAAGTAATGAT	0.323000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			23	26					0	0	1	0	0
LOC100420587	100420587	broad.mit.edu	37	19	29215153	29215153	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:29215153C>A	ENST00000592347.1	-	0	388																											GACTGTCCGCCATCCAGATGG	0.443000													8	40					0.00448238	0.00468734	1	1	0
OR6W1P	89883	broad.mit.edu	37	7	142760181	142760181	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:142760181C>A	ENST00000496192.1	-	0	345					NR_002140.1													p.M114I(1)		central_nervous_system(1)|endometrium(2)|lung(1)|skin(1)	5						GATCAAAGGCCATGACCATGA	0.547000													10	19					5.50884e-06	6.10031e-06	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058156	152058156	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:152058156G>A	ENST00000368806.1	-	3	2066	c.2002C>T	c.(2002-2004)Ctg>Ttg	p.L668L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	668							calcium ion binding	p.L668L(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCTATTTCCAGGGACTTTCTA	0.507000													72	392					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282950	52282950	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:52282950G>T	ENST00000301190.6	+	3	723	c.496G>T	c.(496-498)Gac>Tac	p.D166Y	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_Missense_Mutation_p.D31Y|ANKRD33_ENST00000538991.1_Intron	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	31								p.D166Y(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CAAAGGAGGGGACACGGCCCT	0.612000													8	70					2.80697e-09	3.28104e-09	1	1	0
CCDC19	25790	broad.mit.edu	37	1	159857673	159857673	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:159857673C>A	ENST00000426543.2	-	5	746	c.291G>T	c.(289-291)aaG>aaT	p.K97N	CCDC19_ENST00000368099.4_Missense_Mutation_p.K182N|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	182						mitochondrion|soluble fraction		p.K182N(2)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CCATCCGCAGCTTGTTGGCTC	0.582000													76	386					6.11987e-43	1.08386e-42	1	1	0
FAM98A	25940	broad.mit.edu	37	2	33810265	33810265	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:33810265G>A	ENST00000238823.8	-	8	1275	c.1135C>T	c.(1135-1137)Cat>Tat	p.H379Y	FAM98A_ENST00000441530.2_Missense_Mutation_p.H184Y|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	380	Gly-rich.							p.H379Y(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCTCCTTGATGCTTATTTCCT	0.567000													90	226					0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159680488	159680488	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:159680488T>C	ENST00000393977.3	-	7	1490	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.H354R	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	402						nucleus		p.H402R(2)		endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATGGCCATATGCATGCTAAG	0.607000													116	97					0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130588868	130588868	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:130588868C>A	ENST00000344849.3	-	4	724	c.444G>T	c.(442-444)gaG>gaT	p.E148D	ENG_ENST00000373203.4_Missense_Mutation_p.E148D			P17813	EGLN_HUMAN	endoglin	148					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	p.E148D(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CAGCTGCCCACTCAAGGATCT	0.612000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				3	13					0.150653	0.15094	1	1	0
CHIT1	1118	broad.mit.edu	37	1	203192633	203192633	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:203192633G>T	ENST00000367229.1	-	5	504	c.470C>A	c.(469-471)aCc>aAc	p.T157N	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.T148N|CHIT1_ENST00000255427.3_Missense_Mutation_p.T138N	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	157					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	p.T157N(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTGTACCAGGGTTGTGAAGCG	0.627000													21	95					4.62619e-21	6.74065e-21	1	1	0
FLG2	388698	broad.mit.edu	37	1	152323916	152323916	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:152323916C>A	ENST00000388718.5	-	3	6418	c.6346G>T	c.(6346-6348)Ggg>Tgg	p.G2116W	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2116							calcium ion binding|structural molecule activity	p.G2116W(2)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGAGACCCCTGAGTGCACT	0.532000													290	1904					7.97229e-56	1.47656e-55	1	1	0
ADAM7	8756	broad.mit.edu	37	8	24350690	24350690	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:24350690A>T	ENST00000175238.6	+	16	1873	c.1790A>T	c.(1789-1791)gAt>gTt	p.D597V	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.D597V|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.D369V	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	597	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.D597V(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTATACCATGATTCTACAGAC	0.403000													54	95					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29667614	29667614	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:29667614T>A	ENST00000358273.4	+	47	7396	c.7013T>A	c.(7012-7014)cTt>cAt	p.L2338H	NF1_ENST00000356175.3_Missense_Mutation_p.L2317H|NF1_ENST00000444181.2_Missense_Mutation_p.L131H|NF1_ENST00000417592.2_Missense_Mutation_p.L51H	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2338					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.L2338H(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCGCACTTCTTGAACAAAAC	0.443000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	76					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	2990067	2990067	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:2990067G>T	ENST00000381127.1	+	3	233	c.11_splice	c.e3-1	p.R4_splice	ARSF_ENST00000537104.1_Splice_Site_p.R4_splice|ARSF_ENST00000359361.2_Splice_Site_p.R4_splice	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	4						extracellular region	arylsulfatase activity|metal ion binding	p.R4S(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCTTTCCAGGAGACCCTTGG	0.493000													63	180					1.15062e-32	1.90322e-32	1	1	0
ANKRD24	170961	broad.mit.edu	37	19	4219712	4219712	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:4219712G>T	ENST00000600132.1	+	19	3404	c.3128G>T	c.(3127-3129)cGg>cTg	p.R1043L	ANKRD24_ENST00000262970.5_Missense_Mutation_p.R1133L|ANKRD24_ENST00000318934.4_Missense_Mutation_p.R1043L	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1043								p.R1133L(2)|p.R608L(2)|p.R1043L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GCCCAGAGCCGGGCCCAGGAG	0.657000													11	23					9.31168e-06	1.02898e-05	1	1	0
OR5M1	390168	broad.mit.edu	37	11	56380768	56380768	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:56380768T>A	ENST00000526538.1	-	1	210	c.211A>T	c.(211-213)Att>Ttt	p.I71F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I71F(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GAATAGCAAATGTCTACAAAG	0.468000													160	236					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134042065	134042065	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:134042065G>T	ENST00000220616.4	+	41	7076		c.e41-1		TG_ENST00000542445.1_Splice_Site|TG_ENST00000519543.1_Splice_Site|TG_ENST00000377869.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.?(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTTTCTGAAGGGTCCGGAGA	0.572000													29	33					1.69901e-12	2.09784e-12	1	1	0
HSPA6	3310	broad.mit.edu	37	1	161496061	161496061	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:161496061T>A	ENST00000309758.4	+	1	2026	c.1613T>A	c.(1612-1614)gTg>gAg	p.V538E		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	538					response to unfolded protein		ATP binding	p.V538E(2)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGGGACAGAGTGGCTGCCAAA	0.547000													3	19					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168201305	168201305	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:168201305C>A	ENST00000519560.1	-	13	1649	c.1230G>T	c.(1228-1230)ctG>ctT	p.L410L	SLIT3_ENST00000404867.3_Silent_p.L410L|SLIT3_ENST00000332966.8_Silent_p.L410L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	410					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.L410L(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTTGTCATACAGGGAGAGCA	0.567000													289	422					7.22585e-116	1.53878e-115	1	1	0
NECAB1	64168	broad.mit.edu	37	8	91937778	91937778	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:91937778G>T	ENST00000417640.2	+	7	847	c.510G>T	c.(508-510)aaG>aaT	p.K170N		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	170					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	p.K170N(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GGCCAGCCAAGCCAGAAGTCC	0.483000													10	66					1.08611e-07	1.23656e-07	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22155180	22155180	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:22155180C>T	ENST00000397126.4	-	4	2804	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.E786K(4)|p.E886K(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGGGTTTCTCTCCAGTATGA	0.378000													30	90					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622447	38622447	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:38622447C>A	ENST00000413689.1	-	17	3396	c.3203G>T	c.(3202-3204)gGc>gTc	p.G1068V	SCN5A_ENST00000414099.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1068V|SCN5A_ENST00000455624.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1068V|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1068V|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1068V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1068					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.G1068V(4)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCCTCCGTGCCCAGGCTGTT	0.632000													19	28					3.62473e-10	4.30386e-10	1	1	0
KHNYN	23351	broad.mit.edu	37	14	24901180	24901180	+	Missense_Mutation	SNP	G	G	T	rs142344659		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:24901180G>T	ENST00000251343.5	+	3	852	c.713G>T	c.(712-714)gGa>gTa	p.G238V	KHNYN_ENST00000556842.1_Missense_Mutation_p.G238V|KHNYN_ENST00000553935.1_Missense_Mutation_p.G238V			O15037	KHNYN_HUMAN	KH and NYN domain containing	238								p.G238V(2)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTGGACACTGGATCTATGGGA	0.627000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	29					8.4185e-14	1.07479e-13	1	1	0
PRDM2	7799	broad.mit.edu	37	1	14106677	14106677	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:14106677G>T	ENST00000235372.7	+	8	3243	c.2387G>T	c.(2386-2388)aGc>aTc	p.S796I	PRDM2_ENST00000343137.4_Missense_Mutation_p.S595I|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.S796I|PRDM2_ENST00000413440.1_Missense_Mutation_p.S595I|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	796						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S796I(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAAACTGTGAGCCCTCCATGC	0.468000													71	83					5.82419e-33	9.66411e-33	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11486977	11486977	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:11486977C>A	ENST00000423059.3	-	12	2931	c.2680G>T	c.(2680-2682)Gcc>Tcc	p.A894S	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	894						integral to membrane		p.A894S(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGGGTAAGGGCTGGCACAGGG	0.507000										HNSCC(18;0.044)			73	135					1.42382e-21	2.08036e-21	1	1	0
NAALAD2	10003	broad.mit.edu	37	11	89896515	89896515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:89896515G>T	ENST00000534061.1	+	10	1343	c.1113G>T	c.(1111-1113)tgG>tgT	p.W371C	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Missense_Mutation_p.W278C|NAALAD2_ENST00000321955.4_Missense_Mutation_p.W338C	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	371	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.W371C(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGGACTCCTGGGTATTTGGAG	0.383000													22	127					2.85442e-18	3.96154e-18	1	1	0
OR13C3	138803	broad.mit.edu	37	9	107298376	107298376	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:107298376G>C	ENST00000374781.2	-	1	761	c.719C>G	c.(718-720)cCa>cGa	p.P240R		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P240R(2)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GACCATCAGTGGAAGAACCAG	0.428000													54	253					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210574656	210574656	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:210574656G>T	ENST00000360351.4	+	12	5257	c.4751G>T	c.(4750-4752)aGa>aTa	p.R1584I	MAP2_ENST00000199940.6_Missense_Mutation_p.R285I|MAP2_ENST00000392194.1_Missense_Mutation_p.R228I|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Missense_Mutation_p.R1580I|MAP2_ENST00000361559.4_Missense_Mutation_p.R228I	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1584					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.R285I(2)|p.R1584I(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CCAATTCGCAGAGCAGGGAAG	0.498000													38	74					6.57855e-14	8.43979e-14	1	1	0
ZCCHC16	340595	broad.mit.edu	37	X	111698533	111698533	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:111698533C>A	ENST00000340433.2	+	1	807	c.577C>A	c.(577-579)Cag>Aag	p.Q193K		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	193							nucleic acid binding|zinc ion binding	p.Q193K(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGATCCCAACCAGGATGAAGA	0.473000													379	305					2.5488e-171	5.51716e-171	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131830026	131830026	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:131830026C>A	ENST00000359827.3	-	29	6039	c.5077G>T	c.(5077-5079)Gat>Tat	p.D1693Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1693Y			Q9HCM2	PLXA4_HUMAN	plexin A4	1693						integral to membrane|intracellular|plasma membrane		p.D1693Y(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAGAGGTCATCCACAAACTTC	0.537000													180	111					2.4992e-98	5.21659e-98	1	1	0
NMD3	51068	broad.mit.edu	37	3	160945076	160945076	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:160945076A>T	ENST00000460469.1	+	3	676	c.221A>T	c.(220-222)gAa>gTa	p.E74V	NMD3_ENST00000472947.1_Missense_Mutation_p.E74V|NMD3_ENST00000351193.2_Missense_Mutation_p.E74V|NMD3_ENST00000478160.1_3'UTR			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	74					protein transport	cytoplasm|nucleolus|nucleoplasm		p.E74V(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TGTGCTTTAGAATCCAGGGAA	0.358000													14	59					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68708818	68708818	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:68708818C>A	ENST00000303145.7	-	9	1495	c.1409G>T	c.(1408-1410)gGg>gTg	p.G470V	MDM1_ENST00000540418.1_Missense_Mutation_p.G190V|MDM1_ENST00000411698.2_Missense_Mutation_p.G435V	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	470						nucleus		p.G470L(2)|p.G470V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTTCCTGTCCCCTTCCTCTTC	0.498000													59	451					9.48467e-20	1.34473e-19	1	1	0
IGSF11	152404	broad.mit.edu	37	3	118624531	118624531	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:118624531G>T	ENST00000354673.2	-	7	992	c.612C>A	c.(610-612)atC>atA	p.I204I	IGSF11_ENST00000491903.1_Silent_p.I205I|IGSF11_ENST00000489689.1_Silent_p.I205I|IGSF11_ENST00000441144.2_Silent_p.I204I|IGSF11_ENST00000393775.2_Silent_p.I205I|IGSF11_ENST00000425327.2_Silent_p.I204I	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	205	Ig-like C2-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	p.I204I(2)|p.I205I(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACAGGGCACTGATGTTCCGGA	0.473000													33	178					1.59361e-14	2.07485e-14	1	1	0
MYH6	4624	broad.mit.edu	37	14	23871768	23871768	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:23871768C>A	ENST00000405093.3	-	12	1116	c.1046G>T	c.(1045-1047)gGc>gTc	p.G349V	MYH6_ENST00000356287.3_Missense_Mutation_p.G349V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	349	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.G349V(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTGTAGACGCCAGCTTTCTC	0.612000													31	176					1.45844e-13	1.83088e-13	1	1	0
ADAM30	11085	broad.mit.edu	37	1	120438950	120438950	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:120438950C>G	ENST00000369400.1	-	1	168	c.10G>C	c.(10-12)Gtg>Ctg	p.V4L		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	4					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AAGATCTGCACTGACCTCATG	0.532000													4	125					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109284	21109284	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:21109284G>T	ENST00000320704.3	-	1	566	c.567C>A	c.(565-567)cgC>cgA	p.R189R		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R189R(2)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGCAAGCCAGGCGGAGCAGTG	0.572000													105	135					5.10254e-61	9.75976e-61	1	1	0
GDF2	2658	broad.mit.edu	37	10	48413769	48413769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:48413769C>A	ENST00000249598.1	-	2	1258	c.1099G>T	c.(1099-1101)Gat>Tat	p.D367Y		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	367					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.D367Y(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGCGTCACATCGTCAGCCAAG	0.577000													9	23					4.68919e-08	5.36199e-08	1	1	0
KIAA2018	205717	broad.mit.edu	37	3	113388977	113388977	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:113388977G>A	ENST00000316407.4	-	5	560	c.150C>T	c.(148-150)gcC>gcT	p.A50A	KIAA2018_ENST00000491165.1_Silent_p.A50A|KIAA2018_ENST00000478658.1_Silent_p.A50A	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	50	Helix-loop-helix motif.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.A50A(2)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CCTGCTTCAGGGCAGGAGAAC	0.368000													47	234					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198703339	198703339	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:198703339C>G	ENST00000367376.2	+	21	2322	c.2151C>G	c.(2149-2151)ccC>ccG	p.P717P	PTPRC_ENST00000442510.2_Silent_p.P719P|PTPRC_ENST00000352140.3_Silent_p.P669P|PTPRC_ENST00000594404.1_Silent_p.P556P|PTPRC_ENST00000348564.6_Silent_p.P558P	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	717	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.P717P(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCAAAGAACCCAGGAAATACA	0.294000													18	22					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9345212	9345212	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:9345212C>T	ENST00000261336.2	-	12	1406	c.1378G>A	c.(1378-1380)Gtg>Atg	p.V460M	PZP_ENST00000381997.2_Missense_Mutation_p.V329M	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.V460M(1)|p.V329M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTACCAGCCACAGGCTCCAGG	0.502000													11	348					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165548021	165548021	+	Silent	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:165548021A>T	ENST00000264381.3	-	2	967	c.801T>A	c.(799-801)gcT>gcA	p.A267A	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	267					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.A267A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTCTGTTCCTAGCTTCATAAA	0.403000													102	184					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135304240	135304240	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:135304240C>T	ENST00000285968.6	+	29	4059	c.4033C>T	c.(4033-4035)Cac>Tac	p.H1345Y		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1345					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.H1345Y(2)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ACTGACTGCTCACCTAAGCCA	0.502000													32	193					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31104473	31104473	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:31104473C>A	ENST00000304166.4	+	3	367	c.78C>A	c.(76-78)atC>atA	p.I26I	ADCYAP1R1_ENST00000409363.1_Silent_p.I26I|ADCYAP1R1_ENST00000409489.1_Silent_p.I26I|ADCYAP1R1_ENST00000396211.2_Silent_p.I26I	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	26					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.I26I(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CTGACTGCATCTTCAAGAAGG	0.582000													6	46					0.0293803	0.0297766	1	1	0
USH1C	10083	broad.mit.edu	37	11	17554815	17554815	+	Silent	SNP	G	G	T	rs121908370		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:17554815G>T	ENST00000005226.7	-	2	90	c.91C>A	c.(91-93)Cga>Aga	p.R31R	USH1C_ENST00000318024.4_Silent_p.R31R|USH1C_ENST00000527020.1_Silent_p.R31R|USH1C_ENST00000527720.1_5'UTR	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	31					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.R31R(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TGGTACATTCGCAGCACATCA	0.507000													14	106					1.33834e-09	1.57135e-09	1	1	0
LIMA1	51474	broad.mit.edu	37	12	50586249	50586249	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:50586249G>T	ENST00000547825.1	-	3	1489	c.220C>A	c.(220-222)Ccc>Acc	p.P74T	LIMA1_ENST00000552491.1_Missense_Mutation_p.P74T|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552823.1_Missense_Mutation_p.P216T|LIMA1_ENST00000341247.4_Missense_Mutation_p.P376T|LIMA1_ENST00000552783.1_Missense_Mutation_p.P217T|LIMA1_ENST00000394943.3_Missense_Mutation_p.P377T|LIMA1_ENST00000552909.1_Missense_Mutation_p.P216T	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	376					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.P376I(2)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ATTGCTTTGGGAGGAGAACTT	0.448000													38	91					1.56793e-16	2.09855e-16	1	1	0
LAMC1	3915	broad.mit.edu	37	1	183091312	183091312	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:183091312C>A	ENST00000258341.4	+	13	2584	c.2327C>A	c.(2326-2328)cCt>cAt	p.P776H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	776	Laminin EGF-like 7.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.P776H(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTCCGTGTCCTGGAGGTTCA	0.537000													132	830					5.11096e-51	9.33459e-51	1	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072820	17072820	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr22:17072820C>G	ENST00000359963.3	-	1	880	c.621G>C	c.(619-621)gcG>gcC	p.A207A		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	207					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.A207A(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCCCGGGCAGCGCGCACACCC	0.617000													8	29					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35770394	35770394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:35770394G>T	ENST00000400445.3	+	31	5855	c.5321G>T	c.(5320-5322)aGa>aTa	p.R1774I	NBEA_ENST00000379939.2_Missense_Mutation_p.R1771I|NBEA_ENST00000310336.4_Missense_Mutation_p.R1774I|NBEA_ENST00000540320.1_Missense_Mutation_p.R1774I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1774						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.R1774I(2)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCATTGAAGAGAGAAACACAA	0.393000													48	114					7.36392e-32	1.21044e-31	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129635942	129635942	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:129635942G>T	ENST00000421865.2	+	24	3603	c.3555_splice	c.e24+1	p.W1185_splice		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1185	Laminin IV type A 2.				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	p.W1185F(2)		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)		ATCCGGACGTGGGTGAGTAGG	0.483000													59	93					7.59065e-32	1.24383e-31	1	1	0
GCN1L1	10985	broad.mit.edu	37	12	120614022	120614022	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:120614022T>A	ENST00000300648.6	-	10	851		c.e10-2			NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)						regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.?(2)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGAAATAGCTAAGGGGGACA	0.502000													67	114					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49831408	49831408	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:49831408C>A	ENST00000527477.1	+	0	1633																											ACTGCAACACCTACAAGTTTT	0.453000													20	29					3.5997e-14	4.66365e-14	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158607828	158607828	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:158607828C>A	ENST00000368148.3	-	36	5364	c.5184G>T	c.(5182-5184)tgG>tgT	p.W1728C	SPTA1_ENST00000368147.3_Missense_Mutation_p.W1728C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1728					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.W1728C(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATACTCTATCCAGGATTCCT	0.408000													199	270					5.68149e-71	1.12772e-70	1	1	0
SLC8A1	6546	broad.mit.edu	37	2	40655830	40655830	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:40655830T>A	ENST00000406785.1	-	2	1780	c.1591A>T	c.(1591-1593)Att>Ttt	p.I531F	SLC8A1_ENST00000405901.3_Missense_Mutation_p.I531F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000402441.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000332839.4_Missense_Mutation_p.I531F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.I531F|SLC8A1_ENST00000403092.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000542756.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.I531F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	531	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.I531F(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCATCAAAAATAGTTACAGTG	0.438000													61	115					0	0	1	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126597	37126597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:37126597G>T	ENST00000336755.5	+	2	374	c.268G>T	c.(268-270)Gag>Tag	p.E90*	ZCCHC7_ENST00000322831.6_Nonsense_Mutation_p.E89*|ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	90							nucleic acid binding|zinc ion binding	p.E90*(2)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		AGATGGGTCAGAGGTCATCAC	0.398000													29	197					6.03168e-27	9.33137e-27	1	1	0
DST	667	broad.mit.edu	37	6	56516041	56516041	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:56516041G>T	ENST00000370754.5	-	10	1116	c.1115_splice	c.e10-1	p.P373_splice	DST_ENST00000370769.4_Splice_Site_p.P195_splice|DST_ENST00000370788.2_Splice_Site_p.P195_splice|DST_ENST00000361203.3_Splice_Site_p.P195_splice|DST_ENST00000312431.6_Splice_Site_p.P195_splice|DST_ENST00000421834.2_Splice_Site_p.P195_splice			Q03001	DYST_HUMAN	dystonin	195					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.P195M(2)|p.P373M(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCAGGTCCGGCCTAGGAAAA	0.323000													19	23					1.01871e-10	1.22339e-10	1	1	0
CCDC136	64753	broad.mit.edu	37	7	128452071	128452071	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:128452071G>T	ENST00000297788.4	+	13	2613	c.2246G>T	c.(2245-2247)gGt>gTt	p.G749V	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	749						integral to membrane	protein binding	p.G749F(4)|p.G865F(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AAGAGCTATGGTAGCATGGTC	0.498000													104	115					4.22328e-53	7.76728e-53	1	1	0
GPR112	139378	broad.mit.edu	37	X	135431732	135431732	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:135431732C>T	ENST00000394143.1	+	6	6158	c.5867C>T	c.(5866-5868)tCa>tTa	p.S1956L	GPR112_ENST00000412101.1_Missense_Mutation_p.S1751L|GPR112_ENST00000394141.1_Missense_Mutation_p.S1751L|GPR112_ENST00000287534.4_Missense_Mutation_p.S1893L|GPR112_ENST00000370652.1_Missense_Mutation_p.S1956L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1956					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1956L(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAGAACCCTTCATTATCAACA	0.428000													419	368					0	0	1	0	0
TMEM40	55287	broad.mit.edu	37	3	12777053	12777053	+	Splice_Site	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:12777053C>T	ENST00000314124.7	-	11	1039		c.e11+1		TMEM40_ENST00000476331.1_Splice_Site|TMEM40_ENST00000264728.8_Splice_Site|TMEM40_ENST00000435575.1_Splice_Site|TMEM40_ENST00000435218.2_Splice_Site|TMEM40_ENST00000431022.2_Splice_Site	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40							integral to membrane		p.?(2)		breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TTAAAAGTTACCTGTCAGCCT	0.448000													26	132					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42989121	42989121	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:42989121G>C	ENST00000253408.5	-	5	890	c.825C>G	c.(823-825)ctC>ctG	p.L275L	GFAP_ENST00000435360.2_Silent_p.L275L|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.L275L	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	275	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.L275L(4)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGCCTGGCGGAGCAGCTCCG	0.677000													11	20					0	0	1	0	0
DHFRL1	200895	broad.mit.edu	37	3	93780055	93780055	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:93780055T>A	ENST00000394221.2	-	2	750	c.301A>T	c.(301-303)Act>Tct	p.T101S	DHFRL1_ENST00000481631.1_Intron|DHFRL1_ENST00000314636.2_Missense_Mutation_p.T101S	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	101	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding	p.T101S(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						GGTCGTTCAGTAAGTTTTAAG	0.378000													35	181					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68708819	68708819	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:68708819C>A	ENST00000303145.7	-	9	1494	c.1408G>T	c.(1408-1410)Ggg>Tgg	p.G470W	MDM1_ENST00000540418.1_Missense_Mutation_p.G190W|MDM1_ENST00000411698.2_Missense_Mutation_p.G435W	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	470						nucleus		p.G470L(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTCCTGTCCCCTTCCTCTTCA	0.498000													59	454					1.21505e-20	1.75582e-20	1	1	0
ROBO2	6092	broad.mit.edu	37	3	77684057	77684057	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:77684057C>A	ENST00000461745.1	+	24	4697	c.3797C>A	c.(3796-3798)aCc>aAc	p.T1266N	ROBO2_ENST00000487694.3_Missense_Mutation_p.T1282N|ROBO2_ENST00000332191.8_Missense_Mutation_p.T1327N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1266					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.T1282N(2)|p.T1266N(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCTCGACCTACCAGCCCATTT	0.463000													93	175					5.09e-60	9.70051e-60	1	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113519512	113519512	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:113519512C>G	ENST00000284601.3	-	4	1703	c.1635G>C	c.(1633-1635)atG>atC	p.M545I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	545					glycogen metabolic process	integral to membrane		p.M545I(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TAGGGTTACCCATCTTCCTTT	0.413000													104	87					0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117289	46117289	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr21:46117289T>A	ENST00000400365.3	+	1	203	c.173T>A	c.(172-174)gTa>gAa	p.V58E	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	58	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.V58E(2)		large_intestine(1)|lung(8)	9						GTGAGCCGTGTATCCAGCCCC	0.692000													14	86					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34139979	34139979	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:34139979G>T	ENST00000257829.3	+	8	915	c.709G>T	c.(709-711)Gag>Tag	p.E237*	NAT10_ENST00000531159.2_Nonsense_Mutation_p.E165*|NAT10_ENST00000527971.1_Nonsense_Mutation_p.E237*	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	237						nucleolus	ATP binding|N-acetyltransferase activity|protein binding	p.E237*(2)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGAGCTGAGGGAGTTGAAGGA	0.532000													43	73					6.31075e-24	9.53866e-24	1	1	0
FER1L6	654463	broad.mit.edu	37	8	125083827	125083827	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:125083827G>A	ENST00000522917.1	+	31	4253	c.4047G>A	c.(4045-4047)ccG>ccA	p.P1349P	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.P1349P	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1349	C2 5.					integral to membrane		p.P1349P(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGGGATTCCGCCCAATCACC	0.527000													12	141					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55359150	55359150	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:55359150G>A	ENST00000536015.1	-	12	1228	c.1109C>T	c.(1108-1110)tCt>tTt	p.S370F	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.S370F	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	370					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S370F(2)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GAGGTACCAAGAGGAATTGCC	0.448000													20	56					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23517995	23517995	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:23517995C>A	ENST00000296682.3	+	5	489	c.307C>A	c.(307-309)Cct>Act	p.P103T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	103					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.P103T(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TTTAGTCAAACCTCCTTGGAT	0.358000										HNSCC(3;0.000094)			104	412					6.70566e-67	1.32104e-66	1	1	0
COX6B1	1340	broad.mit.edu	37	19	36145541	36145541	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:36145541C>T	ENST00000246554.3	+	3	367	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	COX6B1_ENST00000392201.1_Missense_Mutation_p.R59C|COX6B1_ENST00000592141.1_Missense_Mutation_p.R59C	NM_001863.4	NP_001854.1	P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	59					respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity	p.R76C(2)|p.R59C(2)		lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGGTACCAGCGTGTGTACCA	0.582000													34	135					0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58275002	58275002	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:58275002T>A	ENST00000360374.2	-	1	576	c.577A>T	c.(577-579)Agc>Tgc	p.S193C		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S193C(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACCAACTTGCTGATGCGTGTG	0.463000													41	249					0	0	1	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60015426	60015426	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:60015426G>A	ENST00000586569.1	+	2	139	c.101G>A	c.(100-102)tGt>tAt	p.C34Y	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.C34Y	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	34					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	p.C34Y(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GCTCCTCCATGTACCAGTGAG	0.483000													38	92					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52287227	52287227	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:52287227C>A	ENST00000356297.4	-	18	3722	c.3622G>T	c.(3622-3624)Ggt>Tgt	p.G1208C	PXDNL_ENST00000543296.1_Missense_Mutation_p.G1208C	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1208					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.G407C(2)|p.G1208C(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACTCTTGTACCAGGAATCAGG	0.478000													9	71					6.40141e-05	6.92828e-05	1	1	0
ALPI	248	broad.mit.edu	37	2	233321921	233321921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:233321921C>A	ENST00000295463.3	+	5	614	c.537C>A	c.(535-537)taC>taA	p.Y179*		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	179					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.Y179*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGGCACCTACGCACACACAG	0.607000													7	24					0.000157383	0.000169639	1	1	0
DPYSL5	56896	broad.mit.edu	37	2	27150120	27150120	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:27150120G>T	ENST00000288699.6	+	4	578		c.e4-1		DPYSL5_ENST00000401478.1_Splice_Site	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5						axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.?(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTTCTCCAGGTGAAAGCAG	0.577000													31	44					2.85442e-18	3.96154e-18	1	1	0
RASIP1	54922	broad.mit.edu	37	19	49224136	49224136	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:49224136G>T	ENST00000222145.4	-	12	3015	c.2811C>A	c.(2809-2811)ctC>ctA	p.L937L		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	937					signal transduction	Golgi stack|perinuclear region of cytoplasm		p.L937L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGAGGCGGCGGAGCCTACGGA	0.647000													4	27					0.00024832	0.000266564	1	1	0
ACSL6	23305	broad.mit.edu	37	5	131323838	131323838	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:131323838C>A	ENST00000379264.2	-	7	842	c.734G>T	c.(733-735)gGc>gTc	p.G245V	ACSL6_ENST00000296869.4_Missense_Mutation_p.G245V|ACSL6_ENST00000431707.1_Missense_Mutation_p.G200V|ACSL6_ENST00000379246.1_Missense_Mutation_p.G231V|ACSL6_ENST00000544770.1_Missense_Mutation_p.G129V|ACSL6_ENST00000379244.1_Missense_Mutation_p.G220V|ACSL6_ENST00000357096.1_Missense_Mutation_p.G185V|ACSL6_ENST00000379240.1_Missense_Mutation_p.G220V|ACSL6_ENST00000543479.1_Missense_Mutation_p.G220V|ACSL6_ENST00000379255.1_Missense_Mutation_p.G185V|ACSL6_ENST00000379272.2_Missense_Mutation_p.G235V|ACSL6_ENST00000379249.3_Missense_Mutation_p.G220V	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	220					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G245F(4)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCTTGAGGCCTGGAGTCTC	0.567000													170	198					2.91321e-64	5.65443e-64	1	1	0
DCHS1	8642	broad.mit.edu	37	11	6661905	6661905	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:6661905G>A	ENST00000299441.3	-	2	1351	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	314	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L314L(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTAACTGCAGCAGCCCCGTG	0.617000													7	48					0	0	1	0	0
HOXB8	3218	broad.mit.edu	37	17	46690585	46690585	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:46690585C>A	ENST00000239144.4	-	2	945	c.711G>T	c.(709-711)gcG>gcT	p.A237A	HOXB7_ENST00000567101.1_Intron|HOXB8_ENST00000576562.1_Silent_p.A236A	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	237						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A237A(2)		large_intestine(1)|lung(8)|urinary_tract(2)	11						CGCCCTTCTGCGCGTCGCCCT	0.706000													10	16					1.15919e-05	1.27293e-05	1	1	0
PTK2B	2185	broad.mit.edu	37	8	27312084	27312084	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:27312084G>T	ENST00000397501.1	+	35	3578	c.2770G>T	c.(2770-2772)Gtg>Ttg	p.V924L	PTK2B_ENST00000420218.2_Missense_Mutation_p.V882L|PTK2B_ENST00000346049.5_Missense_Mutation_p.V924L|PTK2B_ENST00000338238.4_Missense_Mutation_p.V882L|PTK2B_ENST00000517339.1_Missense_Mutation_p.V882L|PTK2B_ENST00000544172.1_Missense_Mutation_p.V924L	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	924	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.V924L(4)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CATCGGGAGCGTGGATGATCT	0.587000													11	32					2.61681e-11	3.18621e-11	1	1	0
FLNC	2318	broad.mit.edu	37	7	128487758	128487758	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:128487758G>A	ENST00000325888.8	+	25	4557	c.4296G>A	c.(4294-4296)ccG>ccA	p.P1432P	FLNC_ENST00000346177.6_Silent_p.P1432P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1432					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.P1432P(3)		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						CAGGGAGCCCGTTCCGCGTGC	0.647000													11	42					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	549257	549257	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:549257C>G	ENST00000230449.4	-	22	2291	c.2156G>C	c.(2155-2157)tGc>tCc	p.C719S	EXOC2_ENST00000448181.3_Missense_Mutation_p.C314S	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	719					exocytosis|protein transport			p.C719S(2)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTCTAGATAGCAGCAATTACT	0.373000													81	341					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30492758	30492758	+	Splice_Site	SNP	A	A	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:30492758A>G	ENST00000356798.6	+	7	756		c.e7-1		RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_Splice_Site|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Splice_Site	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)						blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.?(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTCCTTTTCTAGTTTGCTGCT	0.338000													28	22					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143096426	143096426	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:143096426C>A	ENST00000275815.3	-	5	1002	c.916G>T	c.(916-918)Gag>Tag	p.E306*		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	306	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E306*(4)|p.E306K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GTGGCCCCCTCAGACTCAGCA	0.657000													24	17					4.26978e-12	5.25973e-12	1	1	0
DHX29	54505	broad.mit.edu	37	5	54572988	54572988	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:54572988T>C	ENST00000251636.5	-	13	2380	c.2232A>G	c.(2230-2232)acA>acG	p.T744T	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	744	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	p.T744T(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GTGTGAAATATGTAGAAAATT	0.363000													38	176					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34064246	34064246	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr15:34064246C>A	ENST00000389232.4	+	63	9012	c.8942C>A	c.(8941-8943)aCg>aAg	p.T2981K	RYR3_ENST00000415757.3_Missense_Mutation_p.T2981K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2981					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.T2981K(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATTCCCGAACGCAGATTAAA	0.463000													14	53					3.45872e-05	3.77445e-05	1	1	0
OR6K3	391114	broad.mit.edu	37	1	158687606	158687606	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:158687606C>A	ENST00000368146.1	-	1	347	c.348G>T	c.(346-348)caG>caT	p.Q116H	OR6K3_ENST00000368145.1_Missense_Mutation_p.Q100H			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q116H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGAAATACATCTGCAAGATGC	0.483000													115	695					3.31366e-66	6.50367e-66	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139749775	139749775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:139749775C>A	ENST00000303045.6	-	23	2577	c.2131G>T	c.(2131-2133)Ggg>Tgg	p.G711W	COL22A1_ENST00000435777.1_Missense_Mutation_p.G711W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	711	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G711W(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCTGCAGCCCCAGCAATCCA	0.473000										HNSCC(7;0.00092)			24	224					3.80469e-20	5.45305e-20	1	1	0
COX6B2	125965	broad.mit.edu	37	19	55865866	55865866	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:55865866C>A	ENST00000593184.1	-	2	103	c.24G>T	c.(22-24)gaG>gaT	p.E8D	COX6B2_ENST00000588572.1_Missense_Mutation_p.E8D|CTD-2105E13.6_ENST00000591954.3_3'UTR|COX6B2_ENST00000326529.4_Missense_Mutation_p.E8D|COX6B2_ENST00000590900.1_Missense_Mutation_p.E8D			Q6YFQ2	CX6B2_HUMAN	cytochrome c oxidase subunit VIb polypeptide 2 (testis)	8						mitochondrial crista|mitochondrial intermembrane space	cytochrome-c oxidase activity	p.E8D(2)		endometrium(1)|kidney(1)|lung(2)|pancreas(1)	5	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCTTGGGGGGCTCCTGGGCTT	0.667000													5	35					0.00116845	0.00123414	1	1	0
SAA4	6291	broad.mit.edu	37	11	18253967	18253967	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:18253967C>A	ENST00000278222.4	-	3	385	c.205G>T	c.(205-207)Ggt>Tgt	p.G69C	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2			serum amyloid A4, constitutive									p.G69C(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GCCCAGACACCCCCAGGTCCT	0.507000													83	403					6.42612e-47	1.15363e-46	1	1	0
OR2T27	403239	broad.mit.edu	37	1	248813304	248813304	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:248813304G>T	ENST00000344889.3	-	1	881	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N294K(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGACATCCTTGTTCCTAAGGC	0.478000													110	166					3.83347e-80	7.78535e-80	1	1	0
RORB	6096	broad.mit.edu	37	9	77257566	77257566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:77257566G>T	ENST00000376896.2	+	4	1084	c.472G>T	c.(472-474)Gtc>Ttc	p.V158F	RORB_ENST00000396204.2_Missense_Mutation_p.V169F	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	169	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.V158F(2)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TTATTACAACGTCGATTCCGG	0.512000													60	98					1.80625e-27	2.81926e-27	1	1	0
DLGAP2	9228	broad.mit.edu	37	8	1497137	1497137	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:1497137G>A	ENST00000421627.2	+	2	412	c.278G>A	c.(277-279)cGc>cAc	p.R93H		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	172					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.R137H(1)|p.R115H(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TACGACACGCGCGACGACTGC	0.677000													3	31					0	0	1	0	0
RNASE2	6036	broad.mit.edu	37	14	21424301	21424301	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:21424301G>C	ENST00000304625.2	+	2	461	c.371G>C	c.(370-372)aGg>aCg	p.R124T		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	124					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	p.R124T(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TCAAACTGCAGGTATGCGCAG	0.458000													174	454					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995244	140995244	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:140995244G>A	ENST00000285879.4	+	4	2340	c.2054G>A	c.(2053-2055)gGg>gAg	p.G685E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	685							protein binding	p.G685E(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCTGAGGGGGAGGATTCC	0.577000										HNSCC(15;0.026)			68	61					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168093468	168093468	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:168093468C>A	ENST00000519560.1	-	36	4982	c.4563G>T	c.(4561-4563)gcG>gcT	p.A1521A	CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Silent_p.A1528A	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1521	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.A1521A(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTAGGAACACGCGAGGCAGC	0.612000													6	13					0.0215528	0.0219705	1	1	0
KRTAP3-1	83896	broad.mit.edu	37	17	39165133	39165133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:39165133C>G	ENST00000391588.1	-	1	233	c.194G>C	c.(193-195)tGc>tCc	p.C65S	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	65						keratin filament	structural molecule activity	p.C65S(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				GAGCAGCCAGCAAGTTGGCAC	0.597000													43	48					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826786	46826786	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:46826786T>C	ENST00000283296.7	-	17	3142	c.2854A>G	c.(2854-2856)Acg>Gcg	p.T952A	GPR116_ENST00000362015.4_Missense_Mutation_p.T952A|GPR116_ENST00000545669.1_Missense_Mutation_p.T381A|GPR116_ENST00000265417.7_Missense_Mutation_p.T952A|GPR116_ENST00000456426.2_Missense_Mutation_p.T810A	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	952	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T952A(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ACACACTTCGTTTCGCCGCCT	0.488000													53	194					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531657	92531657	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:92531657G>T	ENST00000298047.6	+	9	5495	c.5478G>T	c.(5476-5478)gtG>gtT	p.V1826V	FAT3_ENST00000525166.1_Silent_p.V1676V|FAT3_ENST00000409404.2_Silent_p.V1826V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1826	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1826V(4)		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)				TTTTCACGGTGGACTCCAGTA	0.488000										TCGA Ovarian(4;0.039)			31	30					6.90743e-12	8.46925e-12	1	1	0
SMC3	9126	broad.mit.edu	37	10	112356170	112356170	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:112356170C>T	ENST00000361804.4	+	19	2104	c.1978C>T	c.(1978-1980)Cat>Tat	p.H660Y		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	660	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	p.H660Y(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CCAAGTCAGCCATCGGGGTGC	0.358000													57	113					0	0	1	0	0
PIAS3	10401	broad.mit.edu	37	1	145578690	145578690	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:145578690C>T	ENST00000393045.2	+	3	586	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	PIAS3_ENST00000369298.1_Missense_Mutation_p.P131S|PIAS3_ENST00000369299.3_Missense_Mutation_p.P157S	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	166	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	p.P157S(2)|p.P166S(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCCCTCACACCCCAGCAAGT	0.527000													48	287					0	0	1	0	0
PILRA	29992	broad.mit.edu	37	7	99971855	99971855	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:99971855A>T	ENST00000198536.2	+	2	465	c.253A>T	c.(253-255)Agg>Tgg	p.R85W	PILRA_ENST00000350573.2_Missense_Mutation_p.R85W|PILRA_ENST00000474013.1_3'UTR|PILRA_ENST00000453419.1_Missense_Mutation_p.R85W|PILRA_ENST00000394000.2_Missense_Mutation_p.R85W	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	85	Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	p.R85W(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTACAGCACAAGGCCGCCTTC	0.552000													49	45					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73768561	73768561	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:73768561C>T	ENST00000334126.7	-	25	5206	c.4980G>A	c.(4978-4980)tcG>tcA	p.S1660S	C2CD3_ENST00000313663.7_Silent_p.S1660S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1660	C2 2.					centrosome		p.S1660S(4)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AACTGGGTATCGATACTTTCC	0.448000													51	279					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178252789	178252789	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:178252789C>T	ENST00000448150.3	+	2	1057	c.239C>T	c.(238-240)aCa>aTa	p.T80I	RASAL2_ENST00000367649.3_Missense_Mutation_p.T98I|RASAL2_ENST00000465723.1_3'UTR	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.T80L(2)|p.T98L(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGCATCCTCACAGACAGCCAG	0.463000													129	792					0	0	1	0	0
APOC4-APOC2	100533990	broad.mit.edu	37	19	45448098	45448098	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:45448098C>A	ENST00000419266.2	+	2	209	c.169C>A	c.(169-171)Ctg>Atg	p.L57M	APOC4-APOC2_ENST00000436871.1_Missense_Mutation_p.L57M|APOC4_ENST00000592954.1_Missense_Mutation_p.L57M|APOC4_ENST00000591600.1_Missense_Mutation_p.L57M|APOC4-APOC2_ENST00000589057.1_Missense_Mutation_p.L57M														p.L57M(1)									GATGAAGGAGCTGCTGGAGAC	0.627000													4	15					0.150653	0.15094	1	1	0
ATPAF1	64756	broad.mit.edu	37	1	47131032	47131032	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:47131032C>A	ENST00000576409.1	-	2	402	c.340G>T	c.(340-342)Gac>Tac	p.D114Y	ATPAF1_ENST00000574428.1_Missense_Mutation_p.D91Y|ATPAF1_ENST00000329231.4_Missense_Mutation_p.D114Y|EFCAB14_ENST00000544071.1_Missense_Mutation_p.Q375H|ATPAF1_ENST00000542495.1_5'UTR|ATPAF1_ENST00000532925.1_Missense_Mutation_p.D3Y|ATPAF1_ENST00000371937.4_Missense_Mutation_p.D91Y|ATPAF1_ENST00000525633.1_5'UTR			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	91					protein complex assembly	mitochondrion	protein binding	p.D91Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GCAGCTGGGTCTGACCTGATC	0.463000													6	8					5.9392e-07	6.7328e-07	1	1	0
MUC16	94025	broad.mit.edu	37	19	9069492	9069492	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:9069492C>A	ENST00000397910.4	-	3	18157	c.17954G>T	c.(17953-17955)aGt>aTt	p.S5985I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5987	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S5985I(4)|p.S1618I(2)		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						GCTACTTGCACTTGGTAAGGA	0.478000													90	488					2.46799e-47	4.44576e-47	1	1	0
CECR5	27440	broad.mit.edu	37	22	17630516	17630516	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr22:17630516C>G	ENST00000336737.4	-	2	271	c.246G>C	c.(244-246)cgG>cgC	p.R82R	CECR5_ENST00000155674.5_Silent_p.R52R|CECR5_ENST00000399852.3_Intron|CECR5_ENST00000480451.1_5'UTR	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	82							hydrolase activity	p.R82R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CCACGGGCACCCGCAGCTGCC	0.587000													33	46					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440930	124440930	+	Missense_Mutation	SNP	G	G	T	rs145520583		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:124440930G>T	ENST00000284287.3	+	1	1038	c.966G>T	c.(964-966)agG>agT	p.R322S		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R322S(2)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AAACGCTGAGGGGTAAACTGT	0.443000													94	164					1.18697e-83	2.43885e-83	1	1	0
NEK1	4750	broad.mit.edu	37	4	170428198	170428198	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:170428198C>A	ENST00000439128.2	-	21	2553	c.1913G>T	c.(1912-1914)tGg>tTg	p.W638L	NEK1_ENST00000512193.1_Missense_Mutation_p.W569L|NEK1_ENST00000510533.1_Missense_Mutation_p.W594L|NEK1_ENST00000507142.1_Missense_Mutation_p.W666L|NEK1_ENST00000511633.1_Missense_Mutation_p.W622L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	638					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.W666L(4)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ATGCTCTTCCCACACTTTTTT	0.348000													26	129					1.17739e-12	1.4572e-12	1	1	0
PRKCB	5579	broad.mit.edu	37	16	24166177	24166177	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:24166177T>A	ENST00000303531.7	+	10	1390	c.1239_splice	c.e10+1	p.M413_splice	PRKCB_ENST00000321728.7_Splice_Site_p.M413_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	413	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.M413N(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTCCAGACCATGGTAACTTGT	0.587000													47	40					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33400564	33400564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:33400564C>T	ENST00000418600.2	+	5	591	c.490C>T	c.(490-492)Cga>Tga	p.R164*	SYNGAP1_ENST00000293748.5_Nonsense_Mutation_p.R164*|SYNGAP1_ENST00000428982.2_Nonsense_Mutation_p.R105*|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	164	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	p.R149*(1)|p.R164*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GCCTCGCTTCCGAAGTGCTGA	0.547000													15	109					0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5981934	5981934	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:5981934C>G	ENST00000531445.1	-	2	1603	c.1557G>C	c.(1555-1557)gaG>gaC	p.E519D	C4orf50_ENST00000324058.5_Missense_Mutation_p.E45D			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	45								p.E45D(2)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GGCGGGTGGCCTCGTCCAGAG	0.677000													3	1					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150948412	150948412	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:150948412G>T	ENST00000261800.5	-	1	93	c.81C>A	c.(79-81)tcC>tcA	p.S27S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	27					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.S27S(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGAGGAGGAGAGAATCC	0.483000													72	106					5.02053e-37	8.57402e-37	1	1	0
FBXO21	23014	broad.mit.edu	37	12	117604777	117604777	+	Silent	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:117604777T>A	ENST00000427718.2	-	8	1193	c.1119A>T	c.(1117-1119)gcA>gcT	p.A373A	FBXO21_ENST00000330622.5_Silent_p.A373A	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	373					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.A373A(2)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CATACAGTGCTGCAGTCACGT	0.478000													64	281					0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153430349	153430349	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:153430349C>A	ENST00000368723.3	-	3	349	c.239G>T	c.(238-240)gGa>gTa	p.G80V	S100A7_ENST00000368722.1_Missense_Mutation_p.G80V	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	80	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	p.G80V(2)		breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTATGTCTCCCAGCAAGGA	0.527000													29	213					4.22769e-11	5.12389e-11	1	1	0
RASAL1	8437	broad.mit.edu	37	12	113553049	113553049	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:113553049G>C	ENST00000546530.1	-	12	1309	c.1024C>G	c.(1024-1026)Cgt>Ggt	p.R342G	RASAL1_ENST00000446861.3_Missense_Mutation_p.R342G|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Missense_Mutation_p.R342G|RASAL1_ENST00000548055.1_Missense_Mutation_p.R342G	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	342	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	p.R342G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GAGTTAGAACGGAAGAGGGTG	0.577000													15	51					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30585000	30585000	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr20:30585000G>T	ENST00000217299.3	+	3	1654	c.1480G>T	c.(1480-1482)Ggg>Tgg	p.G494W		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	494						integral to membrane		p.G494W(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAGCGTGCAGGGACCCCCAC	0.692000													4	8					0.0215528	0.0219705	1	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378427	31378427	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:31378427G>A	ENST00000297142.3	-	2	778	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	152					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.I152I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GTCTCTTGCCGATTCTCAGAA	0.458000													28	334					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133673737	133673737	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:133673737G>T	ENST00000519595.1	-	2	245	c.147C>A	c.(145-147)ctC>ctA	p.L49L	LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Silent_p.L49L|LRRC6_ENST00000250173.1_Silent_p.L49L			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	49						cytoplasm		p.L49L(2)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTTGAAGATAGAGAATTTTTA	0.358000													8	26					1.58986e-06	1.79072e-06	1	1	0
NAALAD2	10003	broad.mit.edu	37	11	89891342	89891342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:89891342G>T	ENST00000534061.1	+	7	1056	c.826G>T	c.(826-828)Gga>Tga	p.G276*	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000321955.4_Nonsense_Mutation_p.G276*	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	276	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.G276*(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGTTGAAGAAGGAGTGGGAAT	0.313000													51	87					4.14589e-37	7.10339e-37	1	1	0
OR8B3	390271	broad.mit.edu	37	11	124266919	124266919	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:124266919G>T	ENST00000354597.3	-	1	345	c.329C>A	c.(328-330)tCt>tAt	p.S110Y		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S110Y(2)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GTAACATTCAGAGATGACAAA	0.383000													49	52					1.45723e-30	2.34404e-30	1	1	0
IL12RB2	3595	broad.mit.edu	37	1	67833708	67833708	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:67833708G>T	ENST00000262345.1	+	10	2099	c.1459_splice	c.e10+1	p.E487_splice	IL12RB2_ENST00000371000.1_Splice_Site_p.E487_splice|IL12RB2_ENST00000544434.1_Splice_Site_p.E487_splice|IL12RB2_ENST00000541374.1_Splice_Site_p.E487_splice	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	487	Fibronectin type-III 4.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.E487*(2)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TCTGATTTCAGGTACCTAATT	0.502000													15	195					6.49762e-13	8.06073e-13	1	1	0
SLC44A1	23446	broad.mit.edu	37	9	108127811	108127811	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:108127811G>T	ENST00000374720.3	+	11	1548	c.1301G>T	c.(1300-1302)cGc>cTc	p.R434L	SLC44A1_ENST00000374724.1_Missense_Mutation_p.R434L|SLC44A1_ENST00000374723.1_Missense_Mutation_p.R434L|SLC44A1_ENST00000343170.7_Missense_Mutation_p.R226L	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	434						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.R434L(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TCAGTAAATCGCCTTATTCGT	0.363000													23	156					6.21321e-17	8.44483e-17	1	1	0
MOXD1	26002	broad.mit.edu	37	6	132649636	132649636	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:132649636C>T	ENST00000367963.3	-	5	879	c.761G>A	c.(760-762)gGc>gAc	p.G254D	MOXD1_ENST00000336749.3_Missense_Mutation_p.G186D	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	254					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.G186D(2)|p.G254D(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GCACTCGTGGCCGGACTCCAG	0.517000													77	93					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9967991	9967991	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:9967991C>T	ENST00000264833.4	-	4	713	c.528G>A	c.(526-528)caG>caA	p.Q176Q	OLFM2_ENST00000590841.1_Silent_p.Q98Q	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	176						extracellular region		p.Q176Q(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCACCCGTTGCTGCAGGTCCT	0.647000													26	66					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35737029	35737029	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr20:35737029T>C	ENST00000400441.3	-	23	2952	c.2953A>G	c.(2953-2955)Agg>Ggg	p.R985G	MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000466091.1_5'UTR|MROH8_ENST00000217333.8_Missense_Mutation_p.R814G					maestro heat-like repeat family member 8									p.R985G(2)									GTACCCATCCTCCTGAGCTCA	0.453000													7	10					0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883304	19883304	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:19883304G>T	ENST00000300571.2	-	2	1055	c.864C>A	c.(862-864)gcC>gcA	p.A288A	GPRC5B_ENST00000535671.1_Silent_p.A288A|GPRC5B_ENST00000537135.1_Silent_p.A314A|GPRC5B_ENST00000569847.1_Silent_p.A288A|GPRC5B_ENST00000569479.1_Silent_p.A288A	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	288								p.A288A(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCTCAGGGATGGCGTGGAAGA	0.637000													26	16					5.61819e-17	7.65587e-17	1	1	0
OR51B5	282763	broad.mit.edu	37	11	5364170	5364170	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:5364170C>G	ENST00000300773.2	-	1	639	c.585G>C	c.(583-585)ctG>ctC	p.L195L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L195L(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCTGGGTACAGTCGGTTGA	0.423000													126	228					0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338093	151338093	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:151338093C>A	ENST00000435071.1	-	9	1260	c.798G>T	c.(796-798)ggG>ggT	p.G266G	SELENBP1_ENST00000426705.2_Silent_p.G372G|SELENBP1_ENST00000368868.5_Silent_p.G330G|SELENBP1_ENST00000447402.3_Silent_p.G268G			Q13228	SBP1_HUMAN	selenium binding protein 1	330					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	p.G330G(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCAGGTCCCCATGCAGCC	0.592000													96	117					8.26238e-36	1.40194e-35	1	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47422455	47422455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:47422455G>T	ENST00000404338.3	+	1	523	c.523G>T	c.(523-525)Gat>Tat	p.D175Y		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	175					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.D175Y(4)									TAGGAACTTTGATGACCAGCT	0.453000													26	176					2.2171e-23	3.34153e-23	1	1	0
INHBB	3625	broad.mit.edu	37	2	121107308	121107308	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:121107308G>T	ENST00000295228.3	+	2	1128	c.1082G>T	c.(1081-1083)cGg>cTg	p.R361L		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	361					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	p.R361L(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TACCGCATGCGGGGTCTGAAC	0.607000													15	10					2.62699e-14	3.41184e-14	1	1	0
TRIML1	339976	broad.mit.edu	37	4	189068316	189068316	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:189068316C>A	ENST00000332517.3	+	6	1337	c.1197C>A	c.(1195-1197)caC>caA	p.H399Q	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	399	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.H399Q(3)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGGTCAGCACGTCAGAGAGC	0.488000													31	103					6.50621e-10	7.69049e-10	1	1	0
TLCD1	116238	broad.mit.edu	37	17	27051724	27051724	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:27051724C>A	ENST00000292090.3	-	4	658	c.548G>T	c.(547-549)cGc>cTc	p.R183L	TLCD1_ENST00000394933.3_Missense_Mutation_p.R136L	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	183	TLC.					integral to membrane		p.R183L(2)		breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					AGGGGCCAGGCGGAAGAGAAA	0.517000													6	43					5.18039e-06	5.77306e-06	1	1	0
CASC3	22794	broad.mit.edu	37	17	38318060	38318060	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:38318060G>A	ENST00000264645.7	+	4	578	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	118					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	p.E118K(2)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCTGAAATCAGAAGCTAATGA	0.438000													69	80					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18688221	18688221	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:18688221C>G	ENST00000406451.3	+	11	1523	c.1373C>G	c.(1372-1374)aCg>aGg	p.T458R	HDAC9_ENST00000441542.2_Missense_Mutation_p.T461R|HDAC9_ENST00000406072.1_Missense_Mutation_p.T445R|HDAC9_ENST00000432645.2_Missense_Mutation_p.T458R|HDAC9_ENST00000405010.3_Missense_Mutation_p.T458R|HDAC9_ENST00000401921.1_Missense_Mutation_p.T417R|HDAC9_ENST00000417496.2_Missense_Mutation_p.T456R|HDAC9_ENST00000428307.2_Missense_Mutation_p.T414R|HDAC9_ENST00000524023.1_Missense_Mutation_p.T381R|HDAC9_ENST00000456174.2_Missense_Mutation_p.T430R	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	458					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.T461R(4)|p.T456R(2)|p.T458R(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTCAGAGCACGTTGGCTCAG	0.507000													66	183					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79296927	79296927	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:79296927G>T	ENST00000264895.6	+	26	3626	c.3186G>T	c.(3184-3186)agG>agT	p.R1062S	FRAS1_ENST00000325942.6_Missense_Mutation_p.R1062S	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1061					cell communication	integral to membrane|plasma membrane	metal ion binding	p.R1062I(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCAGCCACAGGGACCGTTGTC	0.478000													14	34					8.60227e-14	1.09295e-13	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57180982	57180982	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:57180982C>A	ENST00000504228.1	+	6	1419	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P	KIAA1211_ENST00000264229.6_Silent_p.P438P|KIAA1211_ENST00000541073.1_Silent_p.P431P			Q6ZU35	K1211_HUMAN	KIAA1211	438	Glu-rich.							p.P438P(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCCTGAAACCCGAAGGACAAA	0.612000													5	14					0.0215528	0.0219705	1	1	0
FBN3	84467	broad.mit.edu	37	19	8183790	8183790	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:8183790C>G	ENST00000600128.1	-	26	3742	c.3328G>C	c.(3328-3330)Gcc>Ccc	p.A1110P	FBN3_ENST00000270509.2_Missense_Mutation_p.A1110P|FBN3_ENST00000601739.1_Missense_Mutation_p.A1110P			Q75N90	FBN3_HUMAN	fibrillin 3	1110	EGF-like 14; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.A1110P(2)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCTCACAGGCAGTGCCCTTG	0.587000													18	161					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198266709	198266709	+	Splice_Site	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:198266709C>G	ENST00000335508.5	-	15	2314	c.2223_splice	c.e15+1	p.K741_splice		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	741					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.K741N(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTGGATTTACCTTTCCTCTGT	0.343000			Mis		myelodysplastic syndrome								32	54					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203821496	203821496	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:203821496T>C	ENST00000545588.1	+	17	6229	c.2402T>C	c.(2401-2403)cTg>cCg	p.L801P	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L801P	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	801							nucleic acid binding|protein binding|zinc ion binding	p.L801P(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGACCTTCTGCTTGAGCTA	0.388000													3	55					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077218	19077218	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:19077218G>C	ENST00000329773.2	-	2	819	c.732C>G	c.(730-732)ttC>ttG	p.F244L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	244					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.F244L(2)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ATAATATTAGGAACCACTGAA	0.502000													59	295					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27329206	27329206	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:27329206T>A	ENST00000429845.2	-	21	2134	c.1772A>T	c.(1771-1773)tAc>tTc	p.Y591F	NEK10_ENST00000341435.5_Missense_Mutation_p.Y591F|NEK10_ENST00000357467.2_5'UTR			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	591	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Y591F(3)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAATGTTTTGTAATAACGTAC	0.264000													38	178					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141755521	141755521	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:141755521C>A	ENST00000475668.2	+	28	3532	c.3478C>A	c.(3478-3480)Cca>Aca	p.P1160T	MGAM_ENST00000549489.2_Missense_Mutation_p.P1160T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1160	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1160T(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACCAGCCCCCAGGGGTAAG	0.547000													53	28					7.71302e-15	1.00922e-14	1	1	0
PPIG	9360	broad.mit.edu	37	2	170493475	170493475	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:170493475G>T	ENST00000260970.3	+	14	1927	c.1707G>T	c.(1705-1707)agG>agT	p.R569S	PPIG_ENST00000448752.2_Missense_Mutation_p.R569S|PPIG_ENST00000409714.3_Missense_Mutation_p.R554S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	569	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R569T(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GCAGAAGTAGGGACAGAAGCA	0.438000													31	203					1.30998e-17	1.79909e-17	1	1	0
KRT28	162605	broad.mit.edu	37	17	38950232	38950232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:38950232G>A	ENST00000306658.7	-	6	1110	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	349	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.Q349*(2)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				ATCTGAGCCTGGATCTGCGCC	0.582000													116	134					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127686687	127686687	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:127686687C>A	ENST00000508053.1	-	27	3659	c.2685G>T	c.(2683-2685)aaG>aaT	p.K895N	FBN2_ENST00000262464.4_Missense_Mutation_p.K895N|FBN2_ENST00000508989.1_Missense_Mutation_p.K862N			P35556	FBN2_HUMAN	fibrillin 2	895					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.K895N(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AACAGGTCCCCTTCAGGCTGT	0.493000													71	78					9.13743e-30	1.45645e-29	1	1	0
HUS1B	135458	broad.mit.edu	37	6	656317	656317	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:656317G>A	ENST00000380907.2	-	1	646	c.628C>T	c.(628-630)Cct>Tct	p.P210S	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	210								p.P210S(2)		endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GACTGGGGAGGGTTTCCAAGA	0.517000													46	130					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56954088	56954088	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:56954088G>T	ENST00000504904.3	-	7	995	c.276C>A	c.(274-276)acC>acA	p.T92T	ZNF667_ENST00000342634.3_Silent_p.T220T|ZNF667_ENST00000292069.6_Silent_p.T92T|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T92T(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTAACTTCTTGGTCTCACATT	0.373000													53	88					2.93687e-30	4.70974e-30	1	1	0
MYH6	4624	broad.mit.edu	37	14	23863047	23863047	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:23863047G>A	ENST00000405093.3	-	22	2826	c.2756C>T	c.(2755-2757)gCc>gTc	p.A919V	MYH6_ENST00000356287.3_Missense_Mutation_p.A919V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	919					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.A919V(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTTACTTTGGCCTCCAGCTG	0.527000													14	52					0	0	1	0	0
ATPIF1	93974	broad.mit.edu	37	1	28564412	28564412	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:28564412A>C	ENST00000335514.5	+	3	295	c.244A>C	c.(244-246)Aag>Cag	p.K82Q	ATPIF1_ENST00000497986.1_3'UTR|ATPIF1_ENST00000468425.2_Intron|ATPIF1_ENST00000465645.1_3'UTR	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	82					angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity	p.K82Q(2)		lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CGTTCATCATAAGAAGGAGAT	0.408000													39	47					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15607507	15607507	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:15607507C>G	ENST00000427411.1	-	6	872	c.656G>C	c.(655-657)cGc>cCc	p.R219P	ACE2_ENST00000252519.3_Missense_Mutation_p.R219P	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	219					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	p.R219P(2)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CAACTGGCCGCGGCTGTAGTC	0.423000													123	303					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53472546	53472546	+	RNA	SNP	C	C	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:53472546C>T	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							CTTCATTATGCATTCTCCAAT	0.358000													12	22					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100340162	100340162	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:100340162C>A	ENST00000437033.2	-	7	1445	c.942G>T	c.(940-942)tgG>tgT	p.W314C	ADH7_ENST00000476959.1_Missense_Mutation_p.W334C|ADH7_ENST00000482593.1_Missense_Mutation_p.W257C|ADH7_ENST00000209665.4_Missense_Mutation_p.W326C			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	326					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	p.W326C(2)|p.W334C(2)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CACATCCCTTCCATGTGCGTC	0.537000													66	187					8.70839e-23	1.30131e-22	1	1	0
RYR3	6263	broad.mit.edu	37	15	34018617	34018617	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr15:34018617C>A	ENST00000389232.4	+	46	7013	c.6943C>A	c.(6943-6945)Cgc>Agc	p.R2315S	RYR3_ENST00000415757.3_Missense_Mutation_p.R2315S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2315	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2315S(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAGCCATCCGCATCAGGTC	0.552000													3	20					2.56e-06	2.9377e-06	0.009096	1	0
SLC6A18	348932	broad.mit.edu	37	5	1244882	1244882	+	Splice_Site	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:1244882C>T	ENST00000324642.3	+	11	1779	c.1656_splice	c.e11+1	p.Y552_splice		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	552					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.Y552Y(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACCCCAAATACGTAGGTCCTT	0.612000													7	127					0	0	0.047766	0	0
OR10K2	391107	broad.mit.edu	37	1	158390454	158390454	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:158390454C>A	ENST00000314902.2	-	1	202	c.203G>T	c.(202-204)tGc>tTc	p.C68F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C68F(2)		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)					AATCTCAGAGCAAGAGAGGAT	0.488000													23	205					3.08376e-08	3.746e-08	0.018920	1	0
DNAH3	55567	broad.mit.edu	37	16	20976235	20976235	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:20976235G>A	ENST00000261383.3	-	53	8970	c.8971C>T	c.(8971-8973)Cgc>Tgc	p.R2991C	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2991					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2991C(4)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTAGTATAGCGGATCCCCAGC	0.532000													80	62					0	0	0.048971	0	0
ALPK2	115701	broad.mit.edu	37	18	56202436	56202436	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:56202436C>A	ENST00000361673.3	-	5	5196	c.4983G>T	c.(4981-4983)gaG>gaT	p.E1661D		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1661							ATP binding|protein serine/threonine kinase activity	p.E1022D(2)|p.E1661D(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTTCTCTAACTCACGTTCTC	0.498000													15	143					2.31682e-05	2.57936e-05	0.024245	1	0
ELMO1	9844	broad.mit.edu	37	7	37298871	37298871	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:37298871G>T	ENST00000310758.4	-	6	975	c.328C>A	c.(328-330)Ctc>Atc	p.L110I	ELMO1_ENST00000448602.1_Missense_Mutation_p.L110I|ELMO1_ENST00000442504.1_Missense_Mutation_p.L110I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	110					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.S109_L110>RI(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCCCGGGAGAGGCTGGCCAAG	0.547000													66	65					5.00936e-31	9.16745e-31	0.048971	1	0
FRMD4A	55691	broad.mit.edu	37	10	13782541	13782541	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:13782541G>A	ENST00000357447.2	-	10	953	c.585C>T	c.(583-585)aaC>aaT	p.N195N	RP11-353M9.1_ENST00000449462.1_RNA|FRMD4A_ENST00000378503.1_Silent_p.N195N|FRMD4A_ENST00000358621.4_Silent_p.N180N|FRMD4A_ENST00000342409.2_Silent_p.N211N	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	195	FERM.					cytoplasm|cytoskeleton	binding	p.N195N(2)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TTGTCTGACCGTTCAGTTTCT	0.443000													45	101					0	0	0.048971	0	0
FAM127A	8933	broad.mit.edu	37	X	134166623	134166623	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:134166623C>A	ENST00000257013.7	+	1	291	c.210C>A	c.(208-210)acC>acA	p.T70T	FAM127A_ENST00000464369.1_Intron	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	70										endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TCCTCATCACCCGCCTCACAG	0.612000													4	109					0.0215528	0.0223097	0.021553	1	0
LHX9	56956	broad.mit.edu	37	1	197890725	197890725	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:197890725G>T	ENST00000367390.3	+	4	669	c.642G>T	c.(640-642)caG>caT	p.Q214H	LHX9_ENST00000561173.1_Missense_Mutation_p.Q229H|LHX9_ENST00000337020.2_Missense_Mutation_p.Q223H|LHX9_ENST00000367391.1_Missense_Mutation_p.Q214H|LHX9_ENST00000367387.4_Missense_Mutation_p.Q223H	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	223					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.Q223H(2)|p.Q214H(2)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCACCGTGCAGAAAGGGCGGC	0.652000													17	34					1.5739e-10	2.07384e-10	0.028581	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							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)		TCTTAACTTACTGTTGTGAAA	0.418000													5	140					0	0	0.038147	0	0
NRAP	4892	broad.mit.edu	37	10	115410292	115410292	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:115410292C>T	ENST00000369358.4	-	8	932	c.688G>A	c.(688-690)Gag>Aag	p.E230K	NRAP_ENST00000369360.3_Missense_Mutation_p.E230K|NRAP_ENST00000360478.3_Missense_Mutation_p.E230K|NRAP_ENST00000359988.3_Missense_Mutation_p.E230K			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	230						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.E230K(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCATAGTCCTCTGTGTATCTC	0.448000													23	63					0	0	0.012319	0	0
ASS1	445	broad.mit.edu	37	9	133364724	133364724	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:133364724C>G	ENST00000372394.1	+	13	1324	c.843C>G	c.(841-843)atC>atG	p.I281M	ASS1_ENST00000372393.3_Missense_Mutation_p.I281M|ASS1_ENST00000352480.5_Missense_Mutation_p.I281M|ASS1_ENST00000493984.2_3'UTR			P00966	ASSY_HUMAN	argininosuccinate synthase 1	281					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	p.I281M(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GGCTAGGTATCTACGAGACCC	0.448000													43	87					0	0	0.048971	0	0
ASMTL	8623	broad.mit.edu	37	X	1561078	1561078	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:1561078C>A	ENST00000534940.1	-	2	277		c.e2+1		ASMTL_ENST00000381333.4_Splice_Site|ASMTL_ENST00000381317.3_Splice_Site|ASMTL_ENST00000416733.2_Splice_Site	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like						melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	p.?(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGCCCCTTGCCTGGTACAGC	0.527000													47	158					2.01807e-28	3.55383e-28	0.048971	1	0
FLNC	2318	broad.mit.edu	37	7	128486498	128486498	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:128486498C>A	ENST00000325888.8	+	23	4369	c.4108C>A	c.(4108-4110)Cga>Aga	p.R1370R	FLNC_ENST00000346177.6_Silent_p.R1370R	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1370					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.R1370R(2)		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						CAAGGCCAACCGATTCACTGT	0.642000													53	63					9.40535e-28	1.63065e-27	0.048971	1	0
CYFIP2	26999	broad.mit.edu	37	5	156731349	156731349	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:156731349C>G	ENST00000347377.6	+	8	1201	c.770C>G	c.(769-771)cCc>cGc	p.P257R	CYFIP2_ENST00000377576.3_Missense_Mutation_p.P257R|CYFIP2_ENST00000318218.6_Missense_Mutation_p.P257R|CYFIP2_ENST00000541131.1_Missense_Mutation_p.P182R|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000521420.1_Missense_Mutation_p.P231R|CYFIP2_ENST00000442283.2_5'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	257					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	p.P257R(6)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TACCTGACTCCCAGTGAGAAA	0.488000													16	153					0	0	0.033300	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938031	116938031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:116938031C>A	ENST00000229554.5	+	1	382	c.245C>A	c.(244-246)cCt>cAt	p.P82H	RSPH4A_ENST00000368580.4_Missense_Mutation_p.P82H|RSPH4A_ENST00000368581.4_Missense_Mutation_p.P82H	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	82					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.P82H(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACATCATCACCTGCTCCTGTC	0.652000									Kartagener syndrome				16	42					3.52763e-06	4.03158e-06	0.033300	1	0
GMFG	9535	broad.mit.edu	37	19	39819649	39819649	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:39819649C>A	ENST00000598034.1	-	6	377	c.348G>T	c.(346-348)gaG>gaT	p.E116D	GMFG_ENST00000597595.1_Missense_Mutation_p.E116D|GMFG_ENST00000602185.1_Missense_Mutation_p.E67D|GMFG_ENST00000600322.1_Missense_Mutation_p.E83D|GMFG_ENST00000595636.1_3'UTR|GMFG_ENST00000253054.8_Missense_Mutation_p.E83D|GMFG_ENST00000594700.1_Intron|GMFG_ENST00000601387.1_Missense_Mutation_p.E75D			O60234	GMFG_HUMAN	glia maturation factor, gamma	116	ADF-H.				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity	p.E116D(2)		breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCTTTGTGAGCTCTGCTGTCT	0.552000													18	73					9.7654e-05	0.000106393	0.043863	1	0
RASAL2	9462	broad.mit.edu	37	1	178252788	178252788	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:178252788A>T	ENST00000448150.3	+	2	1056	c.238A>T	c.(238-240)Aca>Tca	p.T80S	RASAL2_ENST00000465723.1_3'UTR|RASAL2_ENST00000367649.3_Missense_Mutation_p.T98S	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.T80L(2)|p.T98L(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTGCATCCTCACAGACAGCCA	0.463000													22	200					0	0	0.024334	0	0
SMG1	23049	broad.mit.edu	37	16	18844354	18844354	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:18844354C>A	ENST00000446231.2	-	51	9112	c.8700G>T	c.(8698-8700)ctG>ctT	p.L2900L	SMG1_ENST00000389467.3_Silent_p.L2900L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2900					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.L2896L(2)|p.L2900L(2)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTAGAGTCTGCAGGGGAACGC	0.468000													166	154					1.03592e-72	2.15657e-72	0.048971	1	0
IGKV4-1	28908	broad.mit.edu	37	2	89185128	89185128	+	RNA	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:89185128G>C	ENST00000390243.2	+	0	216																											CTGTTGCTCTGGATCTCTGGT	0.398000													31	194					0	0	0.015359	0	0
TAF1L	138474	broad.mit.edu	37	9	32632739	32632739	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:32632739G>A	ENST00000242310.4	-	1	2928	c.2839C>T	c.(2839-2841)Cac>Tac	p.H947Y		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	947					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.H947Y(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAGCAGCGTGAACTTCATCA	0.493000													33	168					0	0	0.050027	0	0
STXBP5L	9515	broad.mit.edu	37	3	120952514	120952514	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:120952514T>C	ENST00000273666.6	+	12	1434	c.1163T>C	c.(1162-1164)gTa>gCa	p.V388A	STXBP5L_ENST00000471454.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000492541.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000497029.1_Missense_Mutation_p.V388A|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V388A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	388					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.V388A(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GATCTCATTGTAGTTGATCTG	0.284000													11	42					0	0	0.024245	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460697	1460697	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr20:1460697C>A	ENST00000359801.3	-	2	135	c.99G>T	c.(97-99)caG>caT	p.Q33H	SIRPB2_ENST00000537284.1_5'UTR|SIRPB2_ENST00000444444.1_Missense_Mutation_p.Q33H|SIRPB2_ENST00000381630.1_Missense_Mutation_p.Q33H	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	33	Ig-like V-type 1.					integral to membrane		p.Q33H(2)|p.Q132H(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCTGCTGCTCTGCCCAGAGG	0.527000													27	44					2.80507e-11	3.74902e-11	0.050027	1	0
PHF14	9678	broad.mit.edu	37	7	11068363	11068363	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:11068363G>T	ENST00000403050.3	+	7	1825	c.1373G>T	c.(1372-1374)tGt>tTt	p.C458F	PHF14_ENST00000445996.2_Missense_Mutation_p.C173F	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	458							zinc ion binding	p.C458F(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGCATTAGCTGTGATGCAGGG	0.448000													71	153					1.1794e-34	2.20892e-34	0.048971	1	0
DDX42	11325	broad.mit.edu	37	17	61886919	61886919	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:61886919G>T	ENST00000578681.1	+	12	1753		c.e12-1		DDX42_ENST00000457800.2_Splice_Site|DDX42_ENST00000389924.2_Splice_Site|DDX42_ENST00000359353.5_Splice_Site|DDX42_ENST00000583590.1_Splice_Site	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.?(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TGATCTTATAGGGTCGACTGA	0.378000													11	86					3.86212e-05	4.24909e-05	0.008291	1	0
PADI1	29943	broad.mit.edu	37	1	17548865	17548865	+	Missense_Mutation	SNP	G	G	A	rs141255010	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:17548865G>A	ENST00000375471.4	+	2	265	c.173G>A	c.(172-174)cGt>cAt	p.R58H		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	58					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AACCGCACACGTGTGAAAGAG	0.552000													6	216					0	0	0.021553	0	0
OR10R2	343406	broad.mit.edu	37	1	158450337	158450337	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:158450337G>T	ENST00000368152.1	+	1	670	c.670G>T	c.(670-672)Gtt>Ttt	p.V224F	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V224F(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CATTTGTGGAGTTCTTGTACT	0.423000													85	141					3.3814e-41	6.5522e-41	0.048971	1	0
MCTP1	79772	broad.mit.edu	37	5	94224666	94224666	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:94224666C>A	ENST00000515393.1	-	12	1850	c.1851G>T	c.(1849-1851)agG>agT	p.R617S	MCTP1_ENST00000312216.8_Missense_Mutation_p.R396S|MCTP1_ENST00000505208.1_Missense_Mutation_p.R396S|MCTP1_ENST00000429576.2_Missense_Mutation_p.R350S|MCTP1_ENST00000505078.1_Missense_Mutation_p.R133S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	617	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.R617S(2)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGTGAAATATCCTCAATGGGC	0.423000													39	53					2.40579e-17	3.62162e-17	0.025465	1	0
SEC16A	9919	broad.mit.edu	37	9	139371251	139371251	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:139371251C>A	ENST00000313050.7	-	1	890	c.817G>T	c.(817-819)Gca>Tca	p.A273S	SEC16A_ENST00000371706.3_Missense_Mutation_p.A95S|SEC16A_ENST00000431893.2_Missense_Mutation_p.A95S|SEC16A_ENST00000290037.6_Missense_Mutation_p.A95S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	95					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.A273S(4)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCAAGGCTGCTGGGGGAGCC	0.587000													9	26					2.17888e-05	2.43547e-05	0.006214	1	0
IRGC	56269	broad.mit.edu	37	19	44223909	44223909	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:44223909G>T	ENST00000244314.5	+	2	1398	c.1199G>T	c.(1198-1200)cGc>cTc	p.R400L		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	400						membrane	GTP binding|hydrolase activity, acting on acid anhydrides	p.R400L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CAGCGTGTCCGCATCAAGGCC	0.652000													6	23					0.00198382	0.00207652	0.029380	1	0
CCDC19	25790	broad.mit.edu	37	1	159857673	159857673	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:159857673C>A	ENST00000426543.2	-	5	746	c.291G>T	c.(289-291)aaG>aaT	p.K97N	CCDC19_ENST00000368099.4_Missense_Mutation_p.K182N|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	182						mitochondrion|soluble fraction		p.K182N(2)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CCATCCGCAGCTTGTTGGCTC	0.582000													56	351					2.12129e-23	3.53548e-23	0.048971	1	0
LAMA2	3908	broad.mit.edu	37	6	129635943	129635943	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:129635943G>T	ENST00000421865.2	+	24	3604	c.3555_splice	c.e24+1	p.W1185_splice		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1185	Laminin IV type A 2.				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	p.W1185F(2)		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)		TCCGGACGTGGGTGAGTAGGG	0.483000													25	82					9.39395e-14	1.34199e-13	0.030593	1	0
GPR128	84873	broad.mit.edu	37	3	100373932	100373932	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:100373932G>A	ENST00000273352.3	+	12	1901	c.1633G>A	c.(1633-1635)Gca>Aca	p.A545T	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.A250T	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	545					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A545T(2)		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						TACCTGGAACGCACTCAGCGC	0.458000													38	199					0	0	0.039052	0	0
NBAS	51594	broad.mit.edu	37	2	15492159	15492159	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:15492159T>A	ENST00000281513.5	-	35	4161	c.4136A>T	c.(4135-4137)gAa>gTa	p.E1379V	NBAS_ENST00000441750.1_Missense_Mutation_p.E1259V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1379								p.E1379V(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTGATATTTTCCCCTCCTTC	0.368000													7	62					0	0	0.029380	0	0
BRE	9577	broad.mit.edu	37	2	28521252	28521252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:28521252C>T	ENST00000344773.2	+	11	1120	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	BRE_ENST00000361704.2_Nonsense_Mutation_p.Q328*|BRE_ENST00000379632.2_Nonsense_Mutation_p.Q328*|BRE_ENST00000342045.2_Nonsense_Mutation_p.Q328*|BRE_ENST00000379624.1_Nonsense_Mutation_p.Q328*	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	328	UEV-like 2.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.Q328*(9)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TCTCACATTTCAGTCCGTTTA	0.428000													92	227					0	0	0.048971	0	0
IFNA7	3444	broad.mit.edu	37	9	21202067	21202067	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:21202067C>A	ENST00000239347.3	-	1	137	c.98G>T	c.(97-99)cGt>cTt	p.R33L		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	33					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.R33L(2)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCTCCTATTACGCAGGCTGTG	0.507000													24	150					3.83957e-06	4.37914e-06	0.016522	1	0
LRRC66	339977	broad.mit.edu	37	4	52861722	52861722	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:52861722C>T	ENST00000343457.3	-	4	1472	c.1466G>A	c.(1465-1467)gGa>gAa	p.G489E		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	489						integral to membrane		p.G489E(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCCGCACTGTCCTGGGCTCTG	0.547000													52	115					0	0	0.048971	0	0
SERPINA3	12	broad.mit.edu	37	14	95088804	95088804	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:95088804G>T	ENST00000553947.1	+	7	2007	c.1119G>T	c.(1117-1119)ggG>ggT	p.G373G	SERPINA3_ENST00000482740.1_Silent_p.G130G|SERPINA3_ENST00000556388.1_3'UTR|SERPINA3_ENST00000393080.4_Silent_p.G348G|SERPINA3_ENST00000393078.3_Silent_p.G348G|SERPINA3_ENST00000467132.1_Silent_p.G348G			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	348	RCL.				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.G348G(2)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GGATCACAGGGGCCAGGAACC	0.502000													23	48					1.28384e-07	1.52968e-07	0.012319	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3677979	3677979	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr20:3677979C>A	ENST00000344754.4	-	9	2132	c.2133G>T	c.(2131-2133)ctG>ctT	p.L711L	SIGLEC1_ENST00000202578.4_Silent_p.L711L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	711	Ig-like C2-type 7.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.L711L(1)		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						GTGCAATGGCCAGGACAGTGG	0.637000													13	40					0.000219431	0.00023406	0.020292	1	0
FUBP1	8880	broad.mit.edu	37	1	78422351	78422351	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:78422351C>A	ENST00000370767.1	-	17	1698	c.1611G>T	c.(1609-1611)tgG>tgT	p.W537C	FUBP1_ENST00000436586.2_Missense_Mutation_p.W558C|FUBP1_ENST00000370768.2_Missense_Mutation_p.W537C			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	537	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.W537C(2)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATAAGCAGCCCAAGCTGCTG	0.453000			"""F, N"""		oligodendroglioma								19	110					6.94344e-10	8.81707e-10	0.038395	1	0
ZNF99	7652	broad.mit.edu	37	19	22941575	22941575	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:22941575C>G	ENST00000397104.3	-	5	862	c.863G>C	c.(862-864)aGc>aCc	p.S288T	ZNF99_ENST00000596209.1_Missense_Mutation_p.S379T					zinc finger protein 99									p.S288T(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGACAAATTGCTAAAAGCTTT	0.373000													14	105					0	0	0.016723	0	0
PBX4	80714	broad.mit.edu	37	19	19681554	19681554	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:19681554G>A	ENST00000251203.8	-	3	568	c.282C>T	c.(280-282)tgC>tgT	p.C94C		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	94							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.C94C(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						TCTCGGGCCTGCACACGCCCT	0.572000													13	68					0	0	0.020292	0	0
KIF17	57576	broad.mit.edu	37	1	21014281	21014281	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:21014281G>A	ENST00000247986.2	-	8	1848	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	KIF17_ENST00000400463.3_Missense_Mutation_p.S513F|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.S413F			Q9P2E2	KIF17_HUMAN	kinesin family member 17	513					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.S513F(2)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTGAGTCTTGGAGACATCGTC	0.542000													25	190					0	0	0.021523	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482152	37482152	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:37482152C>A	ENST00000374660.1	+	33	2868	c.2769C>A	c.(2767-2769)gcC>gcA	p.A923A	ANKRD30A_ENST00000361713.1_Silent_p.A804A|ANKRD30A_ENST00000602533.1_Silent_p.A804A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	974						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A804A(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAACTAAAGCCTTAGAATTGA	0.279000													16	77					1.02788e-11	1.39374e-11	0.033300	1	0
DHX37	57647	broad.mit.edu	37	12	125437014	125437014	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:125437014A>C	ENST00000308736.2	-	21	2896	c.2798T>G	c.(2797-2799)cTg>cGg	p.L933R	DHX37_ENST00000544745.1_Missense_Mutation_p.L720R	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	933							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GTGGTCCCCCAGGCCTGCCGT	0.672000													6	69					0	0	0.038147	0	0
ATPIF1	93974	broad.mit.edu	37	1	28564414	28564414	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:28564414G>T	ENST00000335514.5	+	3	297	c.246G>T	c.(244-246)aaG>aaT	p.K82N	ATPIF1_ENST00000497986.1_3'UTR|ATPIF1_ENST00000465645.1_3'UTR|ATPIF1_ENST00000468425.2_Intron	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	82					angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity	p.K82N(2)		lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TTCATCATAAGAAGGAGATTG	0.418000													26	49					1.64293e-13	2.32922e-13	0.018920	1	0
IQGAP1	8826	broad.mit.edu	37	15	90996394	90996394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr15:90996394G>T	ENST00000268182.5	+	13	1481	c.1357G>T	c.(1357-1359)Gca>Tca	p.A453S	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	453					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	p.A453S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCTCTCTGTCGCAGTGGAGAT	0.478000													12	152					0.000219431	0.00023406	0.020292	1	0
GRM4	2914	broad.mit.edu	37	6	34008522	34008522	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:34008522C>T	ENST00000374181.3	-	6	1341	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	GRM4_ENST00000374177.3_Missense_Mutation_p.R275H|GRM4_ENST00000455714.2_Missense_Mutation_p.R251H|GRM4_ENST00000538487.1_Missense_Mutation_p.R391H|GRM4_ENST00000544773.1_Missense_Mutation_p.R222H|GRM4_ENST00000545715.1_Missense_Mutation_p.R83H|GRM4_ENST00000535756.1_Missense_Mutation_p.R258H	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	391					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AATTCGCTCACGGTCTGCAAT	0.597000													4	103					0	0	0.009096	0	0
OR6K2	81448	broad.mit.edu	37	1	158669653	158669653	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:158669653A>G	ENST00000359610.2	-	1	833	c.790T>C	c.(790-792)Tct>Cct	p.S264P		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S264P(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TAGGTGGCAGAGAAGCGTAGG	0.478000													33	43					0	0	0.045705	0	0
SETBP1	26040	broad.mit.edu	37	18	42531706	42531706	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:42531706G>T	ENST00000282030.5	+	4	2697	c.2401G>T	c.(2401-2403)Gag>Tag	p.E801*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	801						nucleus	DNA binding	p.E801*(2)|p.E747*(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAATTTTTCAGAGTTGAAAAC	0.498000									Schinzel-Giedion syndrome				52	57					2.01872e-29	3.60026e-29	0.048971	1	0
JPH4	84502	broad.mit.edu	37	14	24040419	24040419	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:24040419C>T	ENST00000397118.3	-	6	2423	c.1521G>A	c.(1519-1521)gaG>gaA	p.E507E	JPH4_ENST00000356300.4_Silent_p.E507E|JPH4_ENST00000544177.1_Silent_p.E172E	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	507					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CAGCTAGTTCCTCTGCCTGTG	0.667000													7	506					0	0	0.038147	0	0
OR4A5	81318	broad.mit.edu	37	11	51412283	51412283	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:51412283A>T	ENST00000319760.6	-	1	165	c.113T>A	c.(112-114)gTg>gAg	p.V38E		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V38E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAGGTTCCCCACCACTGTCAC	0.428000													39	54					0	0	0.021022	0	0
GOT1L1	137362	broad.mit.edu	37	8	37794885	37794885	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:37794885G>T	ENST00000307599.4	-	4	528	c.429C>A	c.(427-429)ttC>ttA	p.F143L		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	143					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	p.F143L(4)		central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CCATGTCCTGGAAGACGAGTC	0.542000													11	15					1.58986e-06	1.83572e-06	0.008291	1	0
COL7A1	1294	broad.mit.edu	37	3	48618353	48618353	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:48618353G>T	ENST00000328333.8	-	53	5049	c.4942C>A	c.(4942-4944)Ccg>Acg	p.P1648T	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1648T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1648	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.P1648T(2)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCAAACCCGGGTCACCCTGG	0.557000													16	40					5.3912e-06	6.11149e-06	0.038395	1	0
OR4C13	283092	broad.mit.edu	37	11	49974443	49974443	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:49974443C>A	ENST00000555099.1	+	1	501	c.469C>A	c.(469-471)Cag>Aag	p.Q157K		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q157K(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGCAACCATACAGATCCTCTT	0.443000													100	122					1.19196e-48	2.37545e-48	0.048971	1	0
TECTA	7007	broad.mit.edu	37	11	120983847	120983847	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:120983847G>C	ENST00000392793.1	+	5	824	c.553G>C	c.(553-555)Gaa>Caa	p.E185Q	TECTA_ENST00000264037.2_Missense_Mutation_p.E185Q			O75443	TECTA_HUMAN	tectorin alpha	185	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.E185Q(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAATTATTACGAAATCAACTG	0.572000											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	65					0	0	0.048971	0	0
TPO	7173	broad.mit.edu	37	2	1491645	1491645	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:1491645G>T	ENST00000345913.4	+	10	1741	c.1650G>T	c.(1648-1650)caG>caT	p.Q550H	TPO_ENST00000329066.4_Missense_Mutation_p.Q550H|TPO_ENST00000382198.1_Missense_Mutation_p.Q377H|TPO_ENST00000382201.3_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.Q377H|TPO_ENST00000346956.3_Missense_Mutation_p.Q550H|TPO_ENST00000337415.3_Missense_Mutation_p.Q550H|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	550					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.Q550H(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCAAACTGCAGGTGCAGGATC	0.537000													10	94					5.16669e-11	6.88892e-11	0.010729	1	0
TKTL2	84076	broad.mit.edu	37	4	164394546	164394546	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:164394546G>T	ENST00000280605.3	-	1	501	c.341C>A	c.(340-342)cCc>cAc	p.P114H		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	114						cytoplasm	metal ion binding|transketolase activity	p.P114H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CGGCAATCGGGGGGTAGGGTG	0.532000													33	81					2.49534e-26	4.2474e-26	0.045705	1	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													3	22					0	0	0.004672	0	0
PPIG	9360	broad.mit.edu	37	2	170493474	170493474	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:170493474G>C	ENST00000260970.3	+	14	1926	c.1706G>C	c.(1705-1707)aGg>aCg	p.R569T	PPIG_ENST00000448752.2_Missense_Mutation_p.R569T|PPIG_ENST00000409714.3_Missense_Mutation_p.R554T	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	569	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R569T(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AGCAGAAGTAGGGACAGAAGC	0.433000													8	55					0	0	0.047766	0	0
A4GALT	53947	broad.mit.edu	37	22	43089605	43089605	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr22:43089605G>A	ENST00000401850.1	-	2	842	c.353C>T	c.(352-354)cCg>cTg	p.P118L	A4GALT_ENST00000249005.2_Missense_Mutation_p.P118L|A4GALT_ENST00000381278.3_Missense_Mutation_p.P118L			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	118					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GTTGCCACCCGGAAGCCCTTT	0.632000													5	223					0	0	0.038147	0	0
SLC28A3	64078	broad.mit.edu	37	9	86905119	86905119	+	Missense_Mutation	SNP	C	C	A	rs11568388		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:86905119C>A	ENST00000376238.4	-	11	1148	c.1099G>T	c.(1099-1101)Ggg>Tgg	p.G367W	SLC28A3_ENST00000537648.1_Missense_Mutation_p.G298W	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	367			G -> R (reduced transport of inosine and thymidine).		nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	p.G367W(2)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GTAGAGAACCCGGCGGTCATG	0.458000													15	70					2.31682e-05	2.57936e-05	0.024245	1	0
WIPI1	55062	broad.mit.edu	37	17	66417950	66417950	+	Silent	SNP	G	G	A	rs146678987		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:66417950G>A	ENST00000262139.5	-	13	1304	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C	RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000589459.1_5'UTR|ARSG_ENST00000448504.2_3'UTR|WIPI1_ENST00000546360.1_Silent_p.C353C	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	435					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GATTTCCACGGCACAAGATTA	0.468000													5	185					0	0	0.014758	0	0
SPON1	10418	broad.mit.edu	37	11	14284462	14284462	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:14284462C>A	ENST00000310358.7	+	0	2736				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	p.A733D(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TGGAGGGAGGCCCGAGAGAGC	0.582000													21	34					1.2644e-06	1.46598e-06	0.055883	1	0
FAT4	79633	broad.mit.edu	37	4	126242381	126242381	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:126242381C>A	ENST00000394329.3	+	1	4828	c.4815C>A	c.(4813-4815)gaC>gaA	p.D1605E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1605	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D1605E(4)		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						CAGCAACAGACCTTGGGCCTG	0.433000													59	170					3.76997e-23	6.2461e-23	0.048971	1	0
HAVCR2	84868	broad.mit.edu	37	5	156533775	156533775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:156533775C>A	ENST00000307851.4	-	2	987	c.257G>T	c.(256-258)gGg>gTg	p.G86V	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Missense_Mutation_p.G86V|HAVCR2_ENST00000517358.1_5'UTR	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	86	Ig-like V-type.					integral to membrane		p.G86V(2)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGGAAATCCCCATTTAGCCA	0.488000													55	212					1.07234e-20	1.706e-20	0.048971	1	0
CARD16	114769	broad.mit.edu	37	11	104912157	104912157	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:104912157C>A	ENST00000375706.2	-	3	581	c.564G>T	c.(562-564)gaG>gaT	p.E188D	CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16									p.E188D(2)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						CAGTTTGCAACTCTTTACCTA	0.383000													33	86					1.36239e-07	1.61983e-07	0.015359	1	0
XKR6	286046	broad.mit.edu	37	8	10755798	10755798	+	Silent	SNP	C	C	A	rs61745501	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:10755798C>A	ENST00000416569.2	-	3	1616	c.1590G>T	c.(1588-1590)gcG>gcT	p.A530A	XKR6_ENST00000304437.2_Silent_p.A251A	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	530						integral to membrane		p.A530A(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGATCTCAGGCGCCATGGGCT	0.612000													23	46					7.88262e-20	1.23304e-19	0.018920	1	0
AP1G1	164	broad.mit.edu	37	16	71768563	71768563	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:71768563T>C	ENST00000299980.4	-	22	2757	c.2316A>G	c.(2314-2316)gcA>gcG	p.A772A	AP1G1_ENST00000569748.1_Silent_p.A772A|AP1G1_ENST00000423132.2_Silent_p.A775A|AP1G1_ENST00000564155.1_Silent_p.A197A|AP1G1_ENST00000393512.3_Silent_p.A775A|AP1G1_ENST00000433195.2_Silent_p.A795A	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	772	GAE.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CCGTGTTAAATGCTGGGACAA	0.463000													8	423					0	0	0.047766	0	0
CFAP54	144535	broad.mit.edu	37	12	97052115	97052115	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:97052115T>C	ENST00000524981.3	+	5	804	c.804T>C	c.(802-804)taT>taC	p.Y268Y				Q6ZTY8	CL063_HUMAN		242								p.Y242Y(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGGCTGAATATGGAGAGAAGG	0.378000													13	125					0	0	0.020292	0	0
SLC45A2	51151	broad.mit.edu	37	5	33954552	33954552	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:33954552G>A	ENST00000382102.3	-	4	1003	c.946C>T	c.(946-948)Cac>Tac	p.H316Y	SLC45A2_ENST00000345083.5_Missense_Mutation_p.H208Y|SLC45A2_ENST00000342059.3_Missense_Mutation_p.H257Y|SLC45A2_ENST00000296589.4_Missense_Mutation_p.H316Y|SLC45A2_ENST00000509381.1_Missense_Mutation_p.S207L	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	316					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.H316Y(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TAGCGGTAGTGAGGAGGCATG	0.478000													33	61					0	0	0.054565	0	0
GCN1L1	10985	broad.mit.edu	37	12	120614022	120614022	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:120614022T>A	ENST00000300648.6	-	10	851		c.e10-2			NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)						regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.?(2)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGAAATAGCTAAGGGGGACA	0.502000													44	79					0	0	0.042209	0	0
GPR12	2835	broad.mit.edu	37	13	27333071	27333071	+	Silent	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:27333071A>G	ENST00000405846.3	-	2	1115	c.894T>C	c.(892-894)ccT>ccC	p.P298P	GPR12_ENST00000381436.2_Silent_p.P298P	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	298						integral to plasma membrane		p.P298P(2)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CATATATGACAGGGTTGATGA	0.542000													25	85					0	0	0.018920	0	0
RPL17-C18orf32	100526842	broad.mit.edu	37	18	47015750	47015750	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:47015750C>A	ENST00000584895.1	-	5	500	c.486G>T	c.(484-486)gaG>gaT	p.E162D	RPL17_ENST00000580261.1_Missense_Mutation_p.E162D|RPL17_ENST00000579248.1_Missense_Mutation_p.E162D|RPL17_ENST00000418495.1_Missense_Mutation_p.E162D|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.E124D|RPL17_ENST00000580210.1_Missense_Mutation_p.E152D|RPL17_ENST00000581091.1_5'UTR|RPL17_ENST00000581373.1_Missense_Mutation_p.E124D|RPL17_ENST00000579408.1_Missense_Mutation_p.E162D|MIR1539_ENST00000581232.1_RNA	NM_001199355.1|NM_001199356.1	NP_001186284.1|NP_001186285.1												p.E162D(8)									GGGCAACCTCCTCTTCTGGTT	0.428000													30	77					2.08457e-15	3.07199e-15	0.045705	1	0
TSLP	85480	broad.mit.edu	37	5	110407688	110407688	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:110407688T>A	ENST00000420978.2	+	2	1522	c.100T>A	c.(100-102)Tgt>Agt	p.C34S	TSLP_ENST00000344895.3_Missense_Mutation_p.C34S			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	34						extracellular space	cytokine activity	p.C34S(2)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTTCACTAACTGTGACTTTGA	0.348000													49	66					0	0	0.048971	0	0
LTF	4057	broad.mit.edu	37	3	46496817	46496817	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:46496817C>A	ENST00000231751.4	-	5	910	c.615G>T	c.(613-615)caG>caT	p.Q205H	LTF_ENST00000417439.1_Missense_Mutation_p.Q205H|LTF_ENST00000426532.2_Missense_Mutation_p.Q161H	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	205	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.Q205_E206>H*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AGTACGGTTCCTGGGAGGAGA	0.582000													16	88					6.31663e-08	7.5908e-08	0.024245	1	0
HAUS7	55559	broad.mit.edu	37	X	152721086	152721086	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:152721086C>G	ENST00000370219.3	-	8	1431	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.E292Q|HAUS7_ENST00000421080.2_Silent_p.A113A|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370211.4_Missense_Mutation_p.E282Q	NM_017518.6	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	292					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	p.E292Q(2)|p.E292*(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						TGGCAGCACTCGCCCAGCTCG	0.602000													48	43					0	0	0.048971	0	0
ARHGAP6	395	broad.mit.edu	37	X	11196361	11196361	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:11196361C>T	ENST00000337414.4	-	8	2360	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E	ARHGAP6_ENST00000303025.6_Silent_p.E293E|ARHGAP6_ENST00000413512.3_Silent_p.E305E|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380718.1_Silent_p.E496E|ARHGAP6_ENST00000380732.3_Silent_p.E528E|ARHGAP6_ENST00000534860.1_Silent_p.E321E|ARHGAP6_ENST00000380736.1_Silent_p.E293E	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	496	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.E496E(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTTCCTCCGGCTCCAACACTA	0.522000													5	8					0	0	0.021553	0	0
LRP1B	53353	broad.mit.edu	37	2	141267498	141267498	+	Splice_Site	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:141267498G>A	ENST00000389484.3	-	52	9368	c.8398_splice	c.e52+1	p.C2799_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2799	LDL-receptor class A 17.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C2799C(2)		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)		TGTTCATACCGCAGCCTGCTG	0.507000										TSP Lung(27;0.18)			27	121					0	0	0.030593	0	0
TTN	7273	broad.mit.edu	37	2	179396279	179396279	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:179396279G>A	ENST00000589042.1	-	358	105287	c.105063C>T	c.(105061-105063)ggC>ggT	p.G35021G	TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Silent_p.G25956G|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342992.6_Silent_p.G32453G|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.G26148G|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000359218.5_Silent_p.G26081G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000591111.1_Silent_p.G33380G|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587568.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33380							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G26081G(1)|p.G26148G(1)|p.G32451G(1)|p.G25956G(1)|p.G32453G(1)		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)			CAGAAGCTTCGCCCTTGTAGT	0.507000													7	93					0	0	0.029380	0	0
ARF5	381	broad.mit.edu	37	7	127231266	127231266	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:127231266G>T	ENST00000000233.5	+	6	610		c.e6-1		GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5						protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	p.?(2)		cervix(2)|kidney(1)|lung(10)|ovary(1)	14						TTTCCCCACAGTGGTATGTCC	0.552000													38	48					8.73648e-17	1.30118e-16	0.019004	1	0
TMEM81	388730	broad.mit.edu	37	1	205053311	205053311	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:205053311G>A	ENST00000367167.3	-	1	334	c.138C>T	c.(136-138)gcC>gcT	p.A46A		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	46						integral to membrane		p.A46A(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TACAGGTTGTGGCATTGATGA	0.532000													20	104					0	0	0.049695	0	0
GABRG2	2566	broad.mit.edu	37	5	161576140	161576140	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:161576140A>G	ENST00000356592.3	+	8	1409	c.949A>G	c.(949-951)Acc>Gcc	p.T317A	GABRG2_ENST00000393933.4_Missense_Mutation_p.T222A|GABRG2_ENST00000414552.2_Missense_Mutation_p.T357A|GABRG2_ENST00000361925.4_Missense_Mutation_p.T317A	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	317					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.T317A(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GACAATGACCACCCTCAGCAC	0.463000													14	211					0	0	0.020292	0	0
ZNF607	84775	broad.mit.edu	37	19	38198822	38198822	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:38198822C>A	ENST00000355202.4	-	4	823	c.228G>T	c.(226-228)gaG>gaT	p.E76D	ZNF607_ENST00000395835.3_Missense_Mutation_p.E75D|CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.E76D	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E76D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TACCTGTACACTCTCCTCTTG	0.443000													26	60					4.59853e-10	5.8794e-10	0.027356	1	0
GAS2L2	246176	broad.mit.edu	37	17	34073054	34073054	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:34073054G>C	ENST00000254466.6	-	6	1489	c.1462C>G	c.(1462-1464)Cca>Gca	p.P488A	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P472A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	488					cell cycle arrest	cytoplasm|cytoskeleton		p.P488A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAGACTCTGGCTCCCTGAAC	0.642000													102	98					0	0	0.048971	0	0
RNF175	285533	broad.mit.edu	37	4	154631639	154631639	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:154631639C>G	ENST00000347063.4	-	9	1241	c.869G>C	c.(868-870)tGg>tCg	p.W290S		NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN	ring finger protein 175	290						integral to membrane	zinc ion binding	p.W290S(1)|p.W291S(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				TGTGCGCTCCCAGCTAAATCT	0.378000													3	16					0	0	0.004672	0	0
ANKRD24	170961	broad.mit.edu	37	19	4219712	4219712	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:4219712G>T	ENST00000600132.1	+	19	3404	c.3128G>T	c.(3127-3129)cGg>cTg	p.R1043L	ANKRD24_ENST00000262970.5_Missense_Mutation_p.R1133L|ANKRD24_ENST00000318934.4_Missense_Mutation_p.R1043L	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1043								p.R1133L(2)|p.R608L(2)|p.R1043L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GCCCAGAGCCGGGCCCAGGAG	0.657000													31	51					3.69857e-22	6.00347e-22	0.037714	1	0
PCDHGA5	56110	broad.mit.edu	37	5	140744233	140744233	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:140744233C>G	ENST00000518069.1	+	1	336	c.336C>G	c.(334-336)aaC>aaG	p.N112K	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.N112K(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTTGAGAACAAAATGAAAA	0.443000													26	39					0	0	0.018920	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													3	23					0	0	0.009096	0	0
USP21	27005	broad.mit.edu	37	1	161130698	161130698	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:161130698C>T	ENST00000368002.3	+	3	645	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	USP21_ENST00000289865.8_Silent_p.L90L|USP21_ENST00000368001.1_Silent_p.L90L	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	90					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L90L(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGGGGTTCCCCTGCCTGGCTC	0.622000													13	89					0	0	0.013537	0	0
AZI2	64343	broad.mit.edu	37	3	28381959	28381959	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:28381959T>C	ENST00000479665.1	-	2	681	c.150A>G	c.(148-150)aaA>aaG	p.K50K	AZI2_ENST00000334100.6_Silent_p.K50K|AZI2_ENST00000420543.2_Silent_p.K50K|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000457172.1_Silent_p.K50K	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	50						mitochondrion|plasma membrane		p.K50K(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTTAAGTCGTTTTTTGATGT	0.343000													29	59					0	0	0.027356	0	0
IFRD2	7866	broad.mit.edu	37	3	50326124	50326124	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:50326124C>A	ENST00000436390.1	-	13	1539	c.1042G>T	c.(1042-1044)Gag>Tag	p.E348*	IFRD2_ENST00000336089.4_Nonsense_Mutation_p.E514*|IFRD2_ENST00000429673.2_Nonsense_Mutation_p.E412*|IFRD2_ENST00000417626.2_Nonsense_Mutation_p.E348*			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	412							binding	p.E514*(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CGCACTATCTCTTCTTCGCAT	0.582000													22	28					1.22574e-08	1.502e-08	0.014323	1	0
PIANP	196500	broad.mit.edu	37	12	6804697	6804697	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:6804697G>A	ENST00000534837.1	-	5	955	c.726C>T	c.(724-726)ttC>ttT	p.F242F	PIANP_ENST00000320591.5_Silent_p.F242F|PIANP_ENST00000540656.1_Silent_p.F242F	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein									p.F242F(2)									GTGAGTCCCCGAAGGCCCCCA	0.692000													15	84					0	0	0.028581	0	0
MYOC	4653	broad.mit.edu	37	1	171605172	171605172	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:171605172G>A	ENST00000037502.5	-	3	1467	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	470	Olfactomedin-like.		R -> C (in GLC1A).|R -> H.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.R470C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TACTTATAGCGGTTCTTGAAT	0.488000													26	167					0	0	0.027356	0	0
CEP290	80184	broad.mit.edu	37	12	88496844	88496844	+	Translation_Start_Site	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:88496844C>T	ENST00000547691.2	-	0	1121				CEP290_ENST00000309041.7_Intron|CEP290_ENST00000397838.3_Intron|CEP290_ENST00000552810.1_Intron			O15078	CE290_HUMAN	centrosomal protein 290kDa						cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TGGTCAAGCACTAGCCACTTT	0.299000													4	6					0	0	0.029380	0	0
TPO	7173	broad.mit.edu	37	2	1459915	1459915	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:1459915C>A	ENST00000345913.4	+	7	771	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	TPO_ENST00000329066.4_Missense_Mutation_p.S227Y|TPO_ENST00000382198.1_Missense_Mutation_p.S227Y|TPO_ENST00000382201.3_Missense_Mutation_p.S227Y|TPO_ENST00000349624.3_Missense_Mutation_p.S227Y|TPO_ENST00000346956.3_Missense_Mutation_p.S227Y|TPO_ENST00000337415.3_Missense_Mutation_p.S227Y|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	227					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.S227Y(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACCGCTATTCTGACCTCCTG	0.537000													10	71					3.07112e-06	3.51703e-06	0.010729	1	0
PCDH17	27253	broad.mit.edu	37	13	58207122	58207122	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:58207122G>T	ENST00000377918.3	+	1	468	c.442G>T	c.(442-444)Ggc>Tgc	p.G148C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	148	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.G148C(2)		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)		CGCTGCTCCGGGCACCCGCTT	0.617000													12	50					1.61879e-10	2.11805e-10	0.013537	1	0
EPHA8	2046	broad.mit.edu	37	1	22903323	22903323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:22903323G>T	ENST00000166244.3	+	3	845	c.773G>T	c.(772-774)gGc>gTc	p.G258V	EPHA8_ENST00000538803.1_Missense_Mutation_p.G258V|EPHA8_ENST00000374644.4_Missense_Mutation_p.G258V	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	258	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G258V(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTGCCCATCGGCAAATGCGTG	0.682000													9	47					3.86212e-05	4.24909e-05	0.008291	1	0
OR5M1	390168	broad.mit.edu	37	11	56380768	56380768	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:56380768T>A	ENST00000526538.1	-	1	210	c.211A>T	c.(211-213)Att>Ttt	p.I71F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I71F(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GAATAGCAAATGTCTACAAAG	0.468000													67	90					0	0	0.048971	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886197	88886197	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:88886197C>A	ENST00000319675.3	-	1	99	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	1								p.M1I(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTTTGCTCTCCATTTCGTTCG	0.522000													23	38					3.28513e-13	4.62229e-13	0.021523	1	0
PRDM9	56979	broad.mit.edu	37	5	23527675	23527675	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:23527675C>A	ENST00000296682.3	+	11	2660	c.2478C>A	c.(2476-2478)caC>caA	p.H826Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	826					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.H826Q(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAGGACACACACAGGGGAGA	0.582000										HNSCC(3;0.000094)			71	286					5.88917e-42	1.14911e-41	0.048971	1	0
HSPA1L	3305	broad.mit.edu	37	6	31779674	31779674	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:31779674C>G	ENST00000375654.4	-	2	265	c.76G>C	c.(76-78)Ggc>Cgc	p.G26R	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G26R	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	26					response to unfolded protein		ATP binding	p.G26R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TCCACCTTGCCGTGCTGGAAC	0.607000													35	134					0	0	0.015359	0	0
LAX1	54900	broad.mit.edu	37	1	203743435	203743435	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:203743435G>T	ENST00000442561.2	+	5	1213	c.823G>T	c.(823-825)Gat>Tat	p.D275Y	LAX1_ENST00000367217.5_Missense_Mutation_p.D259Y|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	275					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.D275Y(2)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GACAGGGTTGGATCTCAGTGC	0.493000													20	100					6.33239e-15	9.18688e-15	0.055883	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28296390	28296390	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr21:28296390G>T	ENST00000284987.5	-	8	2896	c.2775C>A	c.(2773-2775)tgC>tgA	p.C925*	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	925	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.C925*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCTTCAACAAGCATTGCTTAA	0.478000													24	60					6.44725e-10	8.20559e-10	0.014323	1	0
LZTS1	11178	broad.mit.edu	37	8	20112440	20112440	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:20112440G>T	ENST00000381569.1	-	2	610	c.253C>A	c.(253-255)Ctg>Atg	p.L85M	LZTS1_ENST00000522290.1_Missense_Mutation_p.L85M|LZTS1_ENST00000265801.6_Missense_Mutation_p.L85M			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	85					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L85M(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCGCTGGACAGTGCCGTGTAA	0.577000													35	71					3.62531e-18	5.54692e-18	0.019004	1	0
FAM170A	340069	broad.mit.edu	37	5	118968566	118968566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:118968566G>T	ENST00000515256.1	+	2	366	c.194G>T	c.(193-195)cGc>cTc	p.R65L				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	65						intracellular	zinc ion binding	p.R65L(4)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TCTTCTTCACGCAAGCTCATC	0.557000													47	90					1.51926e-22	2.48042e-22	0.048971	1	0
KRTAP3-1	83896	broad.mit.edu	37	17	39165133	39165133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:39165133C>G	ENST00000391588.1	-	1	233	c.194G>C	c.(193-195)tGc>tCc	p.C65S	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	65						keratin filament	structural molecule activity	p.C65S(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				GAGCAGCCAGCAAGTTGGCAC	0.597000													36	44					0	0	0.021022	0	0
FAM135B	51059	broad.mit.edu	37	8	139151256	139151256	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:139151256A>T	ENST00000395297.1	-	18	4044	c.3874T>A	c.(3874-3876)Ttc>Atc	p.F1292I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1292								p.F1292I(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGTAGAGGAAACATTTGCGC	0.448000										HNSCC(54;0.14)			25	100					0	0	0.034045	0	0
ACTA2	59	broad.mit.edu	37	10	90699439	90699439	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:90699439G>T	ENST00000458208.1	-	7	1107	c.633C>A	c.(631-633)gtC>gtA	p.V211V	ACTA2-AS1_ENST00000437930.3_RNA|STAMBPL1_ENST00000371927.3_Intron|ACTA2-AS1_ENST00000596007.1_RNA|ACTA2_ENST00000224784.6_Silent_p.V211V	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	211					response to virus	cytosol	ATP binding	p.V211V(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TGATGTCCCGGACAATCTCAC	0.498000													13	53					1.36491e-13	1.94491e-13	0.016723	1	0
PKNOX2	63876	broad.mit.edu	37	11	125300031	125300031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:125300031C>A	ENST00000298282.9	+	12	1457	c.1186C>A	c.(1186-1188)Ccc>Acc	p.P396T	PKNOX2_ENST00000542175.1_Missense_Mutation_p.P332T|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	396						nucleus	sequence-specific DNA binding transcription factor activity	p.P396T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AGGGACAAACCCCGATGGTAA	0.602000													13	77					0.0167234	0.0174072	0.016723	1	0
OXGR1	27199	broad.mit.edu	37	13	97639260	97639260	+	Missense_Mutation	SNP	C	C	A	rs144457939		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:97639260C>A	ENST00000298440.1	-	4	997	c.754G>T	c.(754-756)Gta>Tta	p.V252L	OXGR1_ENST00000543457.1_Missense_Mutation_p.V252L	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	252						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.V252L(2)|p.V252I(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AAAAAACATACGTAAAATGCA	0.438000													30	74					6.38683e-12	8.76624e-12	0.037714	1	0
CDHR4	389118	broad.mit.edu	37	3	49836271	49836271	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:49836271G>T	ENST00000343366.4	-	3	581	c.559C>A	c.(559-561)Cca>Aca	p.P187T	CDHR4_ENST00000412678.2_Silent_p.L161L|CDHR4_ENST00000487256.1_Silent_p.L161L			A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L161L(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GCGCTCCGTGGAGTTCTAGGC	0.612000													9	31					0.00621372	0.00649194	0.006214	1	0
TBCD	6904	broad.mit.edu	37	17	80726316	80726316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:80726316G>T	ENST00000355528.4	+	5	586	c.456G>T	c.(454-456)atG>atT	p.M152I	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.M152I	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	152					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	p.M152I(2)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCCGCTACATGCTTTTGCTCT	0.498000													184	212					7.48252e-65	1.5462e-64	0.048971	1	0
ZNF326	284695	broad.mit.edu	37	1	90470716	90470716	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:90470716G>T	ENST00000340281.4	+	4	265	c.122G>T	c.(121-123)gGa>gTa	p.G41V	ZNF326_ENST00000370447.2_Missense_Mutation_p.G41V|ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000361911.5_Missense_Mutation_p.G41V	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	41	Gly-rich.|Mediates transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	p.G41V(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TATGGCCATGGATCCTATGGG	0.408000													57	97					7.89702e-26	1.3401e-25	0.048971	1	0
OR13G1	441933	broad.mit.edu	37	1	247835561	247835561	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:247835561G>C	ENST00000359688.2	-	1	804	c.783C>G	c.(781-783)tcC>tcG	p.S261S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S261S(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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)			ATGTATAGCTGGAAGCAGGGC	0.463000													60	96					0	0	0.048971	0	0
CEP89	84902	broad.mit.edu	37	19	33457284	33457284	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:33457284G>A	ENST00000305768.4	-	2	216	c.128C>T	c.(127-129)cCa>cTa	p.P43L	CEP89_ENST00000590597.1_Missense_Mutation_p.P43L	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	43						centrosome|spindle pole		p.P43L(2)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTCTGGAGATGGGTTGGGGCT	0.572000													8	42					0	0	0.038147	0	0
ATRNL1	26033	broad.mit.edu	37	10	117486760	117486760	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:117486760A>T	ENST00000355044.3	+	27	3924	c.3798A>T	c.(3796-3798)caA>caT	p.Q1266H	ATRNL1_ENST00000423111.2_Missense_Mutation_p.Q317H|ATRNL1_ENST00000303745.7_Missense_Mutation_p.Q59H	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1266						integral to membrane	sugar binding	p.Q1266H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCCTCCAGCAACTGCTTCGAG	0.428000													17	46					0	0	0.033300	0	0
FLT1	2321	broad.mit.edu	37	13	28893606	28893606	+	Missense_Mutation	SNP	G	G	T	rs116034414	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:28893606G>T	ENST00000282397.4	-	24	3491	c.3240C>A	c.(3238-3240)agC>agA	p.S1080R	FLT1_ENST00000540678.1_Missense_Mutation_p.S298R|FLT1_ENST00000543394.1_Missense_Mutation_p.S103R	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1080	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.S1080R(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ACCACACGTCGCTCTTGGTGC	0.463000													5	31					5.9392e-07	6.95806e-07	0.021553	1	0
TIMMDC1	51300	broad.mit.edu	37	3	119222382	119222382	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:119222382T>G	ENST00000494664.1	+	3	566	c.364T>G	c.(364-366)Tct>Gct	p.S122A	TIMMDC1_ENST00000493694.1_Intron	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	122						integral to membrane|mitochondrial inner membrane	protein transporter activity	p.S122A(2)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ACTTTAGCAATCTGCACATCG	0.418000													5	28					0	0	0.029380	0	0
LCP2	3937	broad.mit.edu	37	5	169697832	169697832	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:169697832G>T	ENST00000046794.5	-	7	1029	c.414C>A	c.(412-414)ccC>ccA	p.P138P		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	138					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	p.P138P(6)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CATCTTCCACGGGTGCCTCTT	0.547000													26	107					8.58068e-18	1.30931e-17	0.034045	1	0
AKAP6	9472	broad.mit.edu	37	14	33242894	33242894	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:33242894G>A	ENST00000280979.4	+	12	3553	c.3383G>A	c.(3382-3384)cGt>cAt	p.R1128H	AKAP6_ENST00000557272.1_Missense_Mutation_p.R1128H	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1128					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.R1128H(2)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCCCTCTGTCGTGAAATCAAG	0.448000													32	323					0	0	0.045705	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705328	41705328	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:41705328C>A	ENST00000379485.1	-	1	1554	c.1320G>T	c.(1318-1320)ttG>ttT	p.L440F	KBTBD6_ENST00000499385.2_Missense_Mutation_p.L374F	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	440							protein binding	p.L440F(2)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTCGCCCCCCCAAAATGTAGA	0.473000													16	133					1.3612e-06	1.57495e-06	0.024245	1	0
LRRTM4	80059	broad.mit.edu	37	2	76975867	76975867	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:76975867G>T	ENST00000409911.1	-	3	1953	c.1730C>A	c.(1729-1731)gCc>gAc	p.A577D	LRRTM4_ENST00000409093.1_Missense_Mutation_p.A576D|LRRTM4_ENST00000409884.1_Missense_Mutation_p.A576D	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	576						integral to membrane		p.A576E(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGCCGACCTGGCGATGGTGGC	0.612000													39	139					4.44401e-20	6.99058e-20	0.039052	1	0
ZNF680	340252	broad.mit.edu	37	7	64004155	64004155	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:64004155C>G	ENST00000309683.6	-	3	334	c.183G>C	c.(181-183)ctG>ctC	p.L61L	ZNF680_ENST00000447137.2_Silent_p.L61L|ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L61L(2)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				AACAGGTTATCAGGTGAGGCT	0.398000													77	169					0	0	0.048971	0	0
DZIP1L	199221	broad.mit.edu	37	3	137816623	137816623	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:137816623C>T	ENST00000327532.2	-	3	930	c.568G>A	c.(568-570)Gca>Aca	p.A190T	DZIP1L_ENST00000469243.1_Missense_Mutation_p.A190T	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	190						intracellular	zinc ion binding	p.A190T(2)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						gccacgcctgcatgcctgcgc	0.577000											OREG0015831	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	16					0	0	0.021553	0	0
FAT3	120114	broad.mit.edu	37	11	92534270	92534270	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:92534270C>G	ENST00000298047.6	+	9	8108	c.8091C>G	c.(8089-8091)caC>caG	p.H2697Q	FAT3_ENST00000525166.1_Missense_Mutation_p.H2547Q|FAT3_ENST00000409404.2_Missense_Mutation_p.H2697Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2697	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.H2697Q(4)		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)				TCTATATCCACGTCTTGCCCC	0.458000										TCGA Ovarian(4;0.039)			16	35					0	0	0.038395	0	0
F13B	2165	broad.mit.edu	37	1	197024971	197024971	+	Missense_Mutation	SNP	C	C	A	rs144134146	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:197024971C>A	ENST00000367412.1	-	8	1271	c.1228G>T	c.(1228-1230)Ggg>Tgg	p.G410W		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	410	Sushi 7.				blood coagulation	extracellular region		p.G410W(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GCCAATATCCCGTCTGCAACA	0.363000													44	61					4.01344e-20	6.33106e-20	0.048971	1	0
PXDNL	137902	broad.mit.edu	37	8	52320977	52320977	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:52320977G>T	ENST00000356297.4	-	17	3307	c.3207C>A	c.(3205-3207)gcC>gcA	p.A1069A	PXDNL_ENST00000543296.1_Silent_p.A1069A	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1069					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.A1069A(2)|p.A268A(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACCTAAGGTGGCATTCAGTC	0.468000													23	39					2.98393e-07	3.5179e-07	0.016522	1	0
TGM5	9333	broad.mit.edu	37	15	43552761	43552761	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr15:43552761G>A	ENST00000220420.5	-	2	34	c.27C>T	c.(25-27)ctC>ctT	p.L9L	TGM5_ENST00000349114.4_Silent_p.L9L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	9					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.L9L(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGAGGTCTGTGAGGGCCACTT	0.562000													16	76					0	0	0.024245	0	0
USP33	23032	broad.mit.edu	37	1	78195558	78195558	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:78195558C>A	ENST00000370793.1	-	10	1143	c.797G>T	c.(796-798)gGg>gTg	p.G266V	USP33_ENST00000370792.3_Missense_Mutation_p.G266V|USP33_ENST00000357428.1_Missense_Mutation_p.G266V|USP33_ENST00000370794.3_Missense_Mutation_p.G235V	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	266					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.G266V(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CTGAGAATACCCCCGAAATGT	0.318000													10	132					4.36969e-10	5.62535e-10	0.016723	1	0
FLG2	388698	broad.mit.edu	37	1	152325411	152325411	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:152325411G>A	ENST00000388718.5	-	3	4923	c.4851C>T	c.(4849-4851)caC>caT	p.H1617H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1617							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTAGTTCCGTGTCTCTCAT	0.517000													7	492					0	0	0.047766	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22969320	22969320	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:22969320G>A	ENST00000356864.3	+	2	680	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	TNFRSF10C_ENST00000540813.1_Intron|TNFRSF10C_ENST00000520607.1_3'UTR	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	50					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity	p.G50R(1)		endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CAGCTTCAAGGGGGAGGAGTG	0.463000													6	59					0	0	0.038147	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975866	76975866	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:76975866G>T	ENST00000409911.1	-	3	1954	c.1731C>A	c.(1729-1731)gcC>gcA	p.A577A	LRRTM4_ENST00000409093.1_Silent_p.A576A|LRRTM4_ENST00000409884.1_Silent_p.A576A	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	576						integral to membrane		p.A576E(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTGCCGACCTGGCGATGGTGG	0.607000													38	139					5.44703e-19	8.44968e-19	0.036044	1	0
SEC31B	25956	broad.mit.edu	37	10	102249075	102249075	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:102249075G>C	ENST00000370345.3	-	23	3202	c.3105C>G	c.(3103-3105)ccC>ccG	p.P1035P		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1035	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		p.P1035P(2)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GGGGCTGTGAGGGAAGAATCC	0.537000													9	27					0	0	0.047766	0	0
FCRL2	79368	broad.mit.edu	37	1	157737060	157737060	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:157737060C>A	ENST00000361516.3	-	6	1171	c.1123G>T	c.(1123-1125)Ggg>Tgg	p.G375W	FCRL2_ENST00000469986.1_Missense_Mutation_p.G122W|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.G375W	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	375	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	p.G375W(2)|p.G122W(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACTGGGCCCCCAGGCCGTTG	0.577000													82	97					4.78148e-37	9.13867e-37	0.048971	1	0
DYM	54808	broad.mit.edu	37	18	46858254	46858254	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:46858254C>A	ENST00000269445.6	-	8	1200	c.743G>T	c.(742-744)gGa>gTa	p.G248V	DYM_ENST00000442713.2_Intron|DYM_ENST00000578396.1_Missense_Mutation_p.G93V	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	248						Golgi apparatus		p.G248V(2)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TGATGCAAGTCCATAAAGCAG	0.398000													22	124					2.98393e-07	3.5179e-07	0.016522	1	0
TRIM69	140691	broad.mit.edu	37	15	45052015	45052015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr15:45052015C>A	ENST00000558173.1	+	4	5039	c.294C>A	c.(292-294)taC>taA	p.Y98*	TRIM69_ENST00000329464.4_Nonsense_Mutation_p.Y302*|TRIM69_ENST00000338264.4_Nonsense_Mutation_p.Y143*|TRIM69_ENST00000560442.1_Nonsense_Mutation_p.Y98*|TRIM69_ENST00000561043.1_Nonsense_Mutation_p.Y65*|TRIM69_ENST00000558329.1_Nonsense_Mutation_p.Y81*|TRIM69_ENST00000559390.1_Nonsense_Mutation_p.Y302*			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	302	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding	p.Y302*(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TGGGCCAGTACAAAGGTCCTA	0.473000													10	108					1.33987e-11	1.81239e-11	0.008291	1	0
PRDM2	7799	broad.mit.edu	37	1	14106677	14106677	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:14106677G>T	ENST00000235372.7	+	8	3243	c.2387G>T	c.(2386-2388)aGc>aTc	p.S796I	PRDM2_ENST00000413440.1_Missense_Mutation_p.S595I|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.S595I|PRDM2_ENST00000311066.5_Missense_Mutation_p.S796I	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	796						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S796I(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAAACTGTGAGCCCTCCATGC	0.468000													54	66					9.72345e-25	1.63517e-24	0.048971	1	0
LILRA1	11024	broad.mit.edu	37	19	55106135	55106135	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:55106135C>T	ENST00000453777.1	+	4	246	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.L26F|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	26					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.L26F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCCAGGGACCCTCCCCAAGCC	0.587000													33	82					0	0	0.015359	0	0
CFH	3075	broad.mit.edu	37	1	196683021	196683021	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:196683021G>A	ENST00000367429.4	+	10	1733	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	498	Sushi 8.				complement activation, alternative pathway	extracellular space		p.G498E(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGGAAAGATGGATGGTCAGCT	0.333000													12	83					0	0	0.013537	0	0
TBC1D7	51256	broad.mit.edu	37	6	13321220	13321220	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:13321220C>A	ENST00000607658.1	-	3	370	c.220G>T	c.(220-222)Gcc>Tcc	p.A74S	TBC1D7_ENST00000356436.4_Missense_Mutation_p.A101S|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Missense_Mutation_p.A101S|TBC1D7_ENST00000379307.2_Missense_Mutation_p.A74S|TBC1D7_ENST00000379300.3_Missense_Mutation_p.A101S			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	101	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	p.A101S(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			TGAGGTGTGGCATCACTAACA	0.502000													127	243					1.04718e-44	2.06487e-44	0.048971	1	0
PCDHGB6	56100	broad.mit.edu	37	5	140789266	140789266	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:140789266G>T	ENST00000520790.1	+	1	1497	c.1497G>T	c.(1495-1497)ctG>ctT	p.L499L	PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1												p.L499L(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAGCCCCTGGCGGTGTCGT	0.642000													14	32					4.3838e-07	5.15741e-07	0.016723	1	0
OTUD6A	139562	broad.mit.edu	37	X	69282458	69282458	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:69282458C>G	ENST00000338352.2	+	1	118	c.84C>G	c.(82-84)agC>agG	p.S28R		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	28								p.S28R(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGATCCGGAGCTTAAAAAACT	0.582000													14	14					0	0	0.016723	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442329	89442329	+	RNA	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:89442329G>T	ENST00000492167.1	-	0	127																											CCTGGAGACTGCGTCAACACA	0.498000													24	124					4.7796e-09	5.88259e-09	0.024334	1	0
GPR151	134391	broad.mit.edu	37	5	145895383	145895383	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:145895383C>T	ENST00000311104.2	-	1	370	c.294G>A	c.(292-294)gcG>gcA	p.A98A		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	98						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A98A(3)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTGGAGTACGCCGTAGCTC	0.512000													18	100					0	0	0.049695	0	0
DNAH8	1769	broad.mit.edu	37	6	38791356	38791356	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:38791356C>A	ENST00000359357.3	+	26	3342	c.3088C>A	c.(3088-3090)Ccc>Acc	p.P1030T	DNAH8_ENST00000449981.2_Missense_Mutation_p.P1247T|DNAH8_ENST00000441566.1_Missense_Mutation_p.P1030T					dynein, axonemal, heavy chain 8									p.P1030T(4)		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						GGCTAACAACCCCTCTCTGAC	0.318000													41	82					7.63091e-17	1.13955e-16	0.030466	1	0
MUC16	94025	broad.mit.edu	37	19	9089844	9089844	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:9089844C>A	ENST00000397910.4	-	1	2174	c.1971G>T	c.(1969-1971)aaG>aaT	p.K657N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	657	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.K657N(4)		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						CAGCAGCCGTCTTGCTCACTG	0.532000													17	179					3.01185e-09	3.74808e-09	0.021523	1	0
SNTG1	54212	broad.mit.edu	37	8	51351136	51351136	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:51351136G>A	ENST00000522124.1	+	5	857	c.196G>A	c.(196-198)Gga>Aga	p.G66R	SNTG1_ENST00000518864.1_Missense_Mutation_p.G66R|SNTG1_ENST00000517473.1_Missense_Mutation_p.G66R|SNTG1_ENST00000276467.5_Missense_Mutation_p.G66R	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	66	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.G66R(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ACAAACAGTAGGAGGATTTGG	0.383000													9	33					0	0	0.047766	0	0
TMEM106B	54664	broad.mit.edu	37	7	12270059	12270059	+	Silent	SNP	T	T	C	rs142177964		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:12270059T>C	ENST00000396667.2	+	7	949	c.627T>C	c.(625-627)taT>taC	p.Y209Y	TMEM106B_ENST00000396668.3_Silent_p.Y209Y	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	209						integral to membrane		p.Y209Y(2)		NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		AAATGAGTTATATGTAGTAAG	0.269000													69	107					0	0	0.048971	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975892	76975892	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:76975892C>A	ENST00000409911.1	-	3	1928	c.1705G>T	c.(1705-1707)Gac>Tac	p.D569Y	LRRTM4_ENST00000409093.1_Missense_Mutation_p.D568Y|LRRTM4_ENST00000409884.1_Missense_Mutation_p.D568Y	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	568						integral to membrane		p.D568Y(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGCTGTGGTCTCGGCCCAGC	0.607000													17	142					4.96729e-08	5.99501e-08	0.049695	1	0
SEMA3D	223117	broad.mit.edu	37	7	84669987	84669987	+	Splice_Site	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:84669987A>T	ENST00000284136.6	-	9	1090		c.e9+1		SEMA3D_ENST00000484038.1_Splice_Site	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D						cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.?(2)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGTTGAACATACCTGGTTGTA	0.318000													24	25					0	0	0.018920	0	0
ZC3H6	376940	broad.mit.edu	37	2	113082754	113082754	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:113082754G>T	ENST00000409871.1	+	11	2467	c.2066G>T	c.(2065-2067)aGg>aTg	p.R689M	ZC3H6_ENST00000343936.4_Missense_Mutation_p.R689M	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	689							nucleic acid binding|zinc ion binding	p.R689M(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAACCTCATAGGGCACCAAGC	0.443000													12	38					1.61879e-10	2.11805e-10	0.013537	1	0
C1QTNF1	114897	broad.mit.edu	37	17	77044101	77044101	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:77044101C>A	ENST00000339142.2	+	5	1332	c.777C>A	c.(775-777)atC>atA	p.I259I	C1QTNF1_ENST00000583904.1_Silent_p.I259I|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000581774.1_Silent_p.I259I|C1QTNF1_ENST00000580454.1_Silent_p.I259I|C1QTNF1_ENST00000580474.1_Silent_p.I259I|C1QTNF1_ENST00000578229.1_Silent_p.I177I|C1QTNF1_ENST00000392445.2_Silent_p.I259I|C1QTNF1_ENST00000579760.1_Silent_p.I259I|C1QTNF1_ENST00000354124.3_Silent_p.I269I|C1QTNF1_ENST00000311661.4_Silent_p.I177I	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	259	C1q.					collagen		p.I177I(2)|p.I259I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AGAACGCCATCTTCAGCGAGG	0.622000													34	51					9.65963e-10	1.22108e-09	0.015359	1	0
CDH7	1005	broad.mit.edu	37	18	63527052	63527052	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:63527052G>T	ENST00000536984.2	+	10	2297	c.1603G>T	c.(1603-1605)Gat>Tat	p.D535Y	CDH7_ENST00000323011.3_Missense_Mutation_p.D535Y|CDH7_ENST00000397968.2_Missense_Mutation_p.D535Y			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	535	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D535Y(4)|p.L533_D535del(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTCATTGAAAGATAACAAAGG	0.368000													14	51					9.31168e-06	1.0492e-05	0.016723	1	0
OR13C3	138803	broad.mit.edu	37	9	107298376	107298376	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:107298376G>C	ENST00000374781.2	-	1	761	c.719C>G	c.(718-720)cCa>cGa	p.P240R		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P240R(2)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GACCATCAGTGGAAGAACCAG	0.428000													17	102					0	0	0.033300	0	0
SAGE1	55511	broad.mit.edu	37	X	134992580	134992580	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:134992580C>A	ENST00000535938.1	+	16	2038	c.1871C>A	c.(1870-1872)gCa>gAa	p.A624E	SAGE1_ENST00000537770.1_Missense_Mutation_p.A248E|SAGE1_ENST00000370709.3_Missense_Mutation_p.A624E|SAGE1_ENST00000324447.3_Missense_Mutation_p.A624E	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	624								p.A624E(2)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCAGATGCTGCAGTCACTCAC	0.468000													71	77					1.79293e-35	3.38062e-35	0.048971	1	0
SKP2	6502	broad.mit.edu	37	5	36152975	36152975	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:36152975G>T	ENST00000274255.6	+	2	307	c.111G>T	c.(109-111)ggG>ggT	p.G37G	SKP2_ENST00000508514.1_Silent_p.G37G|SKP2_ENST00000274254.5_Silent_p.G37G|SKP2_ENST00000546211.1_5'UTR	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	37					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.G37G(4)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGGCATGGGGGTCTCCGCCC	0.602000													58	104					1.46156e-29	2.61493e-29	0.048971	1	0
TP53	7157	broad.mit.edu	37	17	7578556	7578556	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:7578556T>A	ENST00000420246.2	-	5	508		c.e5-2		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		AGGGGAGTACTGTAGGAAGAG	0.552000		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)			17	24					0	0	0.033300	0	0
EVI2A	2123	broad.mit.edu	37	17	29645450	29645450	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:29645450G>T	ENST00000247270.3	-	3	987	c.651C>A	c.(649-651)gaC>gaA	p.D217E	NF1_ENST00000581113.2_3'UTR|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.H134N|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000462804.2_Missense_Mutation_p.D194E|EVI2A_ENST00000461237.1_Missense_Mutation_p.D194E	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	194						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)|p.D217E(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTTTCCAAGTGTCTGATTCAG	0.468000													33	41					5.60225e-13	7.82359e-13	0.041601	1	0
CEP89	84902	broad.mit.edu	37	19	33444562	33444562	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:33444562C>A	ENST00000305768.4	-	4	539	c.451G>T	c.(451-453)Ggc>Tgc	p.G151C	CEP89_ENST00000590597.1_Missense_Mutation_p.G151C	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	151						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TCACTGTGGCCTCCTCTGTCC	0.488000													9	607					1.47197e-15	2.17494e-15	0.030466	1	0
FAM98A	25940	broad.mit.edu	37	2	33810355	33810355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:33810355C>A	ENST00000238823.8	-	8	1185	c.1045G>T	c.(1045-1047)Gga>Tga	p.G349*	FAM98A_ENST00000441530.2_Nonsense_Mutation_p.G154*|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	350	Gly-rich.							p.G349*(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCTCGTCCTCCGTATGAGGAA	0.597000													47	105					8.48111e-28	1.47498e-27	0.048971	1	0
AMER3	205147	broad.mit.edu	37	2	131521360	131521360	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:131521360C>T	ENST00000423981.1	+	2	1825	c.1715C>T	c.(1714-1716)cCg>cTg	p.P572L	AMER3_ENST00000321420.4_Missense_Mutation_p.P572L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.P572L(1)									TGGGCACACCCGGGCACCACA	0.677000													11	56					0	0	0.010729	0	0
P2RX2	22953	broad.mit.edu	37	12	133198443	133198443	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:133198443C>A	ENST00000389110.3	+	11	1338	c.1301C>A	c.(1300-1302)cCg>cAg	p.P434Q	P2RX2_ENST00000352418.4_Missense_Mutation_p.P362Q|P2RX2_ENST00000351222.4_Missense_Mutation_p.P342Q|P2RX2_ENST00000350048.5_Missense_Mutation_p.P410Q|P2RX2_ENST00000348800.5_Intron|P2RX2_ENST00000343948.4_Missense_Mutation_p.P460Q|P2RX2_ENST00000449132.2_Intron	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	434					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	p.P460Q(2)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CCAGCCTTCCCGCCCCTGCGG	0.692000													32	80					1.13719e-10	1.5055e-10	0.037714	1	0
KCNK18	338567	broad.mit.edu	37	10	118969187	118969187	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:118969187T>C	ENST00000334549.1	+	3	532	c.532T>C	c.(532-534)Tcc>Ccc	p.S178P		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	178						integral to membrane|plasma membrane		p.S178P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCCCTCCTCTCCAAGTGGTG	0.512000													27	128					0	0	0.021523	0	0
MTPAP	55149	broad.mit.edu	37	10	30629219	30629219	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:30629219C>A	ENST00000358107.4	-	4	880	c.881G>T	c.(880-882)cGg>cTg	p.R294L	MTPAP_ENST00000263063.3_Missense_Mutation_p.R164L|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	164					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	p.R294L(2)|p.R164L(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ATTACTTGACCGTACGCGTGA	0.403000													26	98					4.59853e-10	5.8794e-10	0.027356	1	0
ZNF827	152485	broad.mit.edu	37	4	146823920	146823920	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:146823920T>A	ENST00000508784.1	-	2	718	c.491A>T	c.(490-492)cAg>cTg	p.Q164L	ZNF827_ENST00000379448.4_Missense_Mutation_p.Q164L|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	164				Q -> R (in Ref. 2; BAC03591).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q164L(4)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACTGAGCTGCTGGGCGTGGTG	0.537000													39	109					0	0	0.042209	0	0
RASA3	22821	broad.mit.edu	37	13	114778667	114778667	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:114778667G>T	ENST00000334062.7	-	15	1584	c.1463C>A	c.(1462-1464)gCg>gAg	p.A488E	RASA3_ENST00000389544.4_Missense_Mutation_p.A456E	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	488	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	p.A488E(2)|p.A488V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AATGGCGGGCGCAAAGAACCT	0.617000													13	15					4.7546e-09	5.87766e-09	0.028581	1	0
FAM155A	728215	broad.mit.edu	37	13	108518829	108518829	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:108518829C>A	ENST00000375915.2	-	1	254	c.116G>T	c.(115-117)cGa>cTa	p.R39L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	39						integral to membrane	binding	p.R39L(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CAGAGACAGTCGCCATTTCTG	0.557000													93	249					3.01496e-42	5.90341e-42	0.048971	1	0
PLXNB2	23654	broad.mit.edu	37	22	50719028	50719028	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr22:50719028C>A	ENST00000449103.1	-	25	4205	c.4065G>T	c.(4063-4065)acG>acT	p.T1355T	PLXNB2_ENST00000359337.4_Silent_p.T1355T			O15031	PLXB2_HUMAN	plexin B2	1355					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.T1398T(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGCGCCACCGTCAGCAGGG	0.627000													11	91					4.68919e-08	5.67159e-08	0.008291	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72520242	72520242	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:72520242C>T	ENST00000373208.1	+	22	3314	c.3314C>T	c.(3313-3315)cCt>cTt	p.P1105L	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P1102L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1102	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1105L(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGCcccaaccctggcccagac	0.637000													33	69					0	0	0.045705	0	0
ABCA13	154664	broad.mit.edu	37	7	48416095	48416095	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:48416095G>T	ENST00000435803.1	+	35	11285	c.11261G>T	c.(11260-11262)tGg>tTg	p.W3754L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3754					transport	integral to membrane	ATP binding|ATPase activity	p.W3699L(2)|p.W3754L(2)		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						ACATTTGGCTGGGTTTGCTGG	0.403000													62	235					4.09171e-25	6.92253e-25	0.048971	1	0
CHCHD4	131474	broad.mit.edu	37	3	14154566	14154566	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:14154566C>T	ENST00000295767.5	-	4	613	c.289G>A	c.(289-291)Ggg>Agg	p.G97R	CHCHD4_ENST00000396914.3_Missense_Mutation_p.G84R	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	84	CHCH.				protein transport|transmembrane transport	mitochondrial intermembrane space		p.G97R(2)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CAGTCTGACCCCTTGATCTCC	0.537000													14	82					0	0	0.020292	0	0
GUCY2F	2986	broad.mit.edu	37	X	108638599	108638599	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:108638599G>T	ENST00000218006.2	-	12	2686	c.2395C>A	c.(2395-2397)Cga>Aga	p.R799R		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	799	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.R799R(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAAGTTGGTCGTTGTTCTGCA	0.502000													134	129					1.08021e-59	2.22395e-59	0.048971	1	0
OR5L1	219437	broad.mit.edu	37	11	55579661	55579661	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:55579661C>A	ENST00000333973.2	+	1	808	c.719C>A	c.(718-720)aCc>aAc	p.T240N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T240N(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCCTTCTCCACCTGTGCTTCC	0.507000													58	109					8.28887e-21	1.32622e-20	0.048971	1	0
TDRD1	56165	broad.mit.edu	37	10	115973156	115973156	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:115973156A>G	ENST00000251864.2	+	15	2036	c.1883A>G	c.(1882-1884)aAa>aGa	p.K628R	TDRD1_ENST00000369280.1_Missense_Mutation_p.K628R|TDRD1_ENST00000369282.1_Missense_Mutation_p.K628R|TDRD1_ENST00000369281.2_Missense_Mutation_p.K571R|TDRD1_ENST00000422662.1_Missense_Mutation_p.K232R	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	628					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.K628R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGTCTCATGAAAAAACTTGTA	0.363000													5	114					0	0	0.021553	0	0
RSAD2	91543	broad.mit.edu	37	2	7036027	7036027	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:7036027G>A	ENST00000382040.3	+	6	1176	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	RSAD2_ENST00000541728.1_Missense_Mutation_p.G240E	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	347					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	p.G347E(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CTGAAGCGAGGAGGAAAATAC	0.443000													14	52					0	0	0.016723	0	0
MIR517B	574483	broad.mit.edu	37	19	54224383	54224383	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:54224383C>A	ENST00000385102.1	+	0	54					NR_030205.1																						TCGTGCATCCCTTTAGAGTGT	0.423000													21	132					1.96292e-10	2.55636e-10	0.055883	1	0
RLN2	6019	broad.mit.edu	37	9	5300244	5300244	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:5300244T>A	ENST00000381627.3	-	2	800	c.412A>T	c.(412-414)Agt>Tgt	p.S138C	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	138					female pregnancy	extracellular region	hormone activity	p.S138C(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		GCGGCTTCACTTTGTCTATTG	0.378000													41	139					0	0	0.027894	0	0
KIF21A	55605	broad.mit.edu	37	12	39734030	39734030	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:39734030C>A	ENST00000395670.3	-	16	2666	c.2247G>T	c.(2245-2247)caG>caT	p.Q749H	KIF21A_ENST00000541463.2_Missense_Mutation_p.Q736H|KIF21A_ENST00000361961.3_Missense_Mutation_p.Q736H|KIF21A_ENST00000361418.5_Missense_Mutation_p.Q749H|KIF21A_ENST00000544797.2_Missense_Mutation_p.Q736H			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	749					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.Q736H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CATACTGAGACTGATTTTTAA	0.338000													15	33					4.7546e-09	5.87766e-09	0.028581	1	0
HGF	3082	broad.mit.edu	37	7	81335640	81335640	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:81335640G>T	ENST00000222390.5	-	15	1946	c.1720C>A	c.(1720-1722)Cct>Act	p.P574T	HGF_ENST00000457544.2_Missense_Mutation_p.P569T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	574	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.P574T(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GATCCTTCAGGGCCATATACC	0.398000													97	49					1.07466e-44	2.11161e-44	0.048971	1	0
CD40LG	959	broad.mit.edu	37	X	135741330	135741330	+	Missense_Mutation	SNP	G	G	T	rs11575982	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:135741330G>T	ENST00000370629.2	+	5	598	c.542G>T	c.(541-543)cGg>cTg	p.R181L	CD40LG_ENST00000370628.2_Missense_Mutation_p.R160L	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	181					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	p.R181L(2)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	TGTTCCAATCGGGAAGCTTCG	0.463000									Immune Deficiency with Hyper-IgM				273	301					1.09378e-136	2.32896e-136	0.048971	1	0
POLG	5428	broad.mit.edu	37	15	89862224	89862224	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr15:89862224G>A	ENST00000268124.5	-	20	3544	c.3211C>T	c.(3211-3213)Cgt>Tgt	p.R1071C	POLG_ENST00000442287.2_Missense_Mutation_p.R1071C	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1071					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	p.R1071C(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ACCGGGGTACGTGGTATGTCA	0.587000								DNA polymerases (catalytic subunits)					20	68					0	0	0.016522	0	0
BIRC6	57448	broad.mit.edu	37	2	32667152	32667152	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:32667152T>A	ENST00000421745.2	+	18	4098	c.3964T>A	c.(3964-3966)Tta>Ata	p.L1322I		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1322					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.L1322I(2)|p.L1294I(2)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGTGCCATGTTACAGTTTTC	0.383000													15	75					0	0	0.028581	0	0
TENM1	10178	broad.mit.edu	37	X	123870955	123870955	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:123870955G>T	ENST00000422452.2	-	4	691	c.628C>A	c.(628-630)Ccc>Acc	p.P210T	TENM1_ENST00000371130.3_Missense_Mutation_p.P210T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.P212T(2)									GCTGCAGGGGGTGGCTTCCTG	0.622000													87	103					1.3466e-33	2.49701e-33	0.048971	1	0
SLC28A3	64078	broad.mit.edu	37	9	86912912	86912912	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:86912912C>A	ENST00000376238.4	-	7	741	c.692G>T	c.(691-693)tGg>tTg	p.W231L	SLC28A3_ENST00000537648.1_Missense_Mutation_p.W162L	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	231					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	p.W231L(2)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CCCGATTCCCCATAAGACAGG	0.418000													21	140					0.012319	0.0128467	0.012319	1	0
SPATA18	132671	broad.mit.edu	37	4	52944926	52944926	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:52944926C>A	ENST00000295213.4	+	8	1420	c.1046C>A	c.(1045-1047)gCa>gAa	p.A349E	SPATA18_ENST00000419395.2_Missense_Mutation_p.A317E	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	349					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.A349E(4)		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)			GCAAAAATGGCATTCAGACAC	0.383000													21	105					1.2644e-06	1.46598e-06	0.055883	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5239326	5239326	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:5239326C>T	ENST00000274181.7	+	15	2355	c.2217C>T	c.(2215-2217)aaC>aaT	p.N739N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	739	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N739N(4)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGGTGTGTAACGGGAATAACT	0.512000													64	418					0	0	0.048971	0	0
TSGA13	114960	broad.mit.edu	37	7	130353924	130353924	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:130353924G>T	ENST00000456951.1	-	9	1609	c.758C>A	c.(757-759)cCc>cAc	p.P253H	TSGA13_ENST00000356588.3_Missense_Mutation_p.P253H			Q96PP4	TSG13_HUMAN	testis specific, 13	253								p.P253H(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GCTCTCCCCGGGCGCGGTTCT	0.597000													166	117					1.96943e-83	4.13063e-83	0.048971	1	0
ZNF611	81856	broad.mit.edu	37	19	53208882	53208882	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:53208882C>T	ENST00000543227.1	-	6	1700	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	ZNF611_ENST00000319783.1_Missense_Mutation_p.D476N|ZNF611_ENST00000595798.1_Missense_Mutation_p.D407N|ZNF611_ENST00000540744.1_Missense_Mutation_p.D476N|ZNF611_ENST00000602162.1_Missense_Mutation_p.D407N|ZNF611_ENST00000453741.2_Missense_Mutation_p.D407N	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D476N(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCTCCACAGTCAATTCTAGTA	0.378000													25	155					0	0	0.021523	0	0
GPR141	353345	broad.mit.edu	37	7	37780909	37780909	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:37780909G>T	ENST00000447769.1	+	4	1203	c.914G>T	c.(913-915)cGt>cTt	p.R305L	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.R305L|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	305						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R305L(2)|p.R305H(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTTTGTGCCGTTAGCCACAA	0.363000													7	84					3.90053e-15	5.70312e-15	0.050027	1	0
OR56A1	120796	broad.mit.edu	37	11	6048891	6048891	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:6048891G>T	ENST00000316650.5	-	1	80	c.44C>A	c.(43-45)cCa>cAa	p.P15Q		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P15Q(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCAGAGACTGGGACAGTGGA	0.522000													49	94					2.01807e-28	3.55383e-28	0.048971	1	0
NLRC3	197358	broad.mit.edu	37	16	3615000	3615000	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:3615000C>A	ENST00000301749.7	-	0	443				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	p.G60V(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGGCCCTGGCCGGCCTCCCT	0.687000													20	13					2.32416e-17	3.50816e-17	0.014323	1	0
PLXDC1	57125	broad.mit.edu	37	17	37264449	37264449	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:37264449C>A	ENST00000315392.4	-	5	730	c.519G>T	c.(517-519)caG>caT	p.Q173H	PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.Q133H|PLXDC1_ENST00000394316.2_Missense_Mutation_p.Q173H|PLXDC1_ENST00000539608.1_Missense_Mutation_p.Q100H	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	173					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		p.Q173H(2)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCGCCACATACTGAGTAGCTG	0.537000													84	126					6.71967e-41	1.29759e-40	0.048971	1	0
CDH20	28316	broad.mit.edu	37	18	59217422	59217422	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:59217422C>A	ENST00000262717.4	+	11	2258	c.1860C>A	c.(1858-1860)ggC>ggA	p.G620G	CDH20_ENST00000538374.1_Silent_p.G620G|CDH20_ENST00000536675.2_Silent_p.G620G			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	620					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G620G(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGAGCCGGGGCGCCCTCATTG	0.582000													8	91					1.06961e-07	1.27988e-07	0.038147	1	0
MED23	9439	broad.mit.edu	37	6	131912668	131912668	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:131912668C>A	ENST00000403834.3	-	26	3663		c.e26-1		MED23_ENST00000368068.3_Splice_Site|MED23_ENST00000368058.1_Splice_Site|MED23_ENST00000368060.3_Splice_Site|MED23_ENST00000354577.4_Splice_Site|MED23_ENST00000479213.1_Splice_Site|MED23_ENST00000545957.1_Splice_Site			Q9ULK4	MED23_HUMAN	mediator complex subunit 23						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.?(4)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AATATGGCTCCTTTAAAATCG	0.403000													23	36					1.28384e-07	1.52968e-07	0.012319	1	0
NRCAM	4897	broad.mit.edu	37	7	107830179	107830179	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:107830179G>T	ENST00000379028.3	-	20	2415	c.1945C>A	c.(1945-1947)Cct>Act	p.P649T	NRCAM_ENST00000379022.4_Missense_Mutation_p.P649T|NRCAM_ENST00000425651.2_Missense_Mutation_p.P649T|NRCAM_ENST00000351718.4_Missense_Mutation_p.P633T|NRCAM_ENST00000379024.4_Missense_Mutation_p.P630T|NRCAM_ENST00000413765.2_Missense_Mutation_p.P630T			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	649	Fibronectin type-III 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.P649T(2)|p.P633T(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCAAAGGGAGGATTTGGGACA	0.448000													35	21					2.42023e-17	3.63359e-17	0.015359	1	0
RSPH4A	345895	broad.mit.edu	37	6	116938033	116938033	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:116938033G>T	ENST00000229554.5	+	1	384	c.247G>T	c.(247-249)Gct>Tct	p.A83S	RSPH4A_ENST00000368580.4_Missense_Mutation_p.A83S|RSPH4A_ENST00000368581.4_Missense_Mutation_p.A83S	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	83					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.A83S(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATCATCACCTGCTCCTGTCTC	0.647000									Kartagener syndrome				16	41					1.02788e-11	1.39374e-11	0.033300	1	0
ATRNL1	26033	broad.mit.edu	37	10	117061553	117061553	+	Splice_Site	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:117061553C>G	ENST00000355044.3	+	17	2944	c.2818_splice	c.e17+1	p.P940_splice	ATRNL1_ENST00000423111.2_Splice_Site_p.P37_splice|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	940						integral to membrane	sugar binding	p.P940A(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CACCTGCTCCCGTAAGTATTT	0.358000													17	106					0	0	0.028581	0	0
MUC3A	4584	broad.mit.edu	37	7	100606797	100606797	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:100606797C>A	ENST00000319509.7	+	4	1887	c.1887C>A	c.(1885-1887)tcC>tcA	p.S629S						mucin 3A, cell surface associated									p.S629S(4)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AGATCCTGTCCCTGAGGTAGG	0.507000													11	10					3.86212e-05	4.24909e-05	0.008291	1	0
LYZL2	119180	broad.mit.edu	37	10	30918543	30918543	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:30918543C>A	ENST00000375318.2	-	1	148	c.92G>T	c.(91-93)gGc>gTc	p.G31V		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.G31V(2)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				ATTCCTGGTGCCTGCCGCAGA	0.522000													19	55					1.96292e-10	2.55636e-10	0.055883	1	0
SLC14A2	8170	broad.mit.edu	37	18	43249375	43249375	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:43249375G>C	ENST00000255226.6	+	16	2957	c.2141G>C	c.(2140-2142)gGc>gCc	p.G714A	SLC14A2_ENST00000589658.1_Missense_Mutation_p.G191A|SLC14A2_ENST00000586448.1_Missense_Mutation_p.G714A|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	714						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.G714A(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGCCACGGGCCACTACAAC	0.557000													39	221					0	0	0.023175	0	0
SBF1	6305	broad.mit.edu	37	22	50900255	50900255	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr22:50900255C>A	ENST00000380817.2	-	21	2796	c.2613G>T	c.(2611-2613)cgG>cgT	p.R871R	SBF1_ENST00000390679.3_Silent_p.R871R|SBF1_ENST00000348911.6_Silent_p.R872R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	871					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	p.R871R(4)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGGCTCTCCCGCTGCACGG	0.647000													27	69					1.74807e-11	2.34191e-11	0.045705	1	0
TYRP1	7306	broad.mit.edu	37	9	12708116	12708116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:12708116G>T	ENST00000388918.5	+	7	1510	c.1381G>T	c.(1381-1383)Gga>Tga	p.G461*	TYRP1_ENST00000381136.2_Nonsense_Mutation_p.G171*|TYRP1_ENST00000381137.2_Nonsense_Mutation_p.G170*|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000473504.1_3'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	461					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.G461*(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AGACAACCTGGGATACACTTA	0.388000									Oculocutaneous Albinism				21	33					1.50039e-11	2.01491e-11	0.012319	1	0
BAI1	575	broad.mit.edu	37	8	143623594	143623594	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:143623594G>T	ENST00000517894.1	+	28	4893	c.3999G>T	c.(3997-3999)ctG>ctT	p.L1333L	BAI1_ENST00000323289.5_Silent_p.L1333L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1333					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.L1333L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACTCGGAGCTGAGCCGGGCCC	0.642000													46	71					4.18559e-23	6.89391e-23	0.048971	1	0
DAOA-AS1	282706	broad.mit.edu	37	13	106118506	106118506	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:106118506C>A	ENST00000448407.1	-	0	739					NR_040247.1																						gagctacaccccaaattagtg	0.428000													3	12					0.00024832	0.000264371	0.009096	1	0
SLC5A9	200010	broad.mit.edu	37	1	48694626	48694626	+	Splice_Site	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:48694626C>T	ENST00000236495.5	+	3	389	c.339_splice	c.e3+1	p.N113_splice	RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000533824.1_Splice_Site_p.N113_splice|SLC5A9_ENST00000438567.2_Splice_Site_p.N113_splice|SLC5A9_ENST00000420136.2_Splice_Site_p.N106_splice	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	113						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	p.N106N(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TCGAGTGGAACGTAAGGAAGC	0.582000													10	145					0	0	0.006214	0	0
ISYNA1	51477	broad.mit.edu	37	19	18546722	18546722	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:18546722T>C	ENST00000545187.1	-	5	821	c.535A>G	c.(535-537)Atc>Gtc	p.I179V	ISYNA1_ENST00000338128.7_Missense_Mutation_p.I329V|ISYNA1_ENST00000578963.1_Missense_Mutation_p.I201V|ISYNA1_ENST00000317018.6_Missense_Mutation_p.I127V|ISYNA1_ENST00000457269.3_Missense_Mutation_p.I275V			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	329					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	p.I329V(2)		breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TAACTCACGATGGACATGGTC	0.627000													73	161					0	0	0.048971	0	0
ABCA13	154664	broad.mit.edu	37	7	48654949	48654949	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:48654949G>A	ENST00000435803.1	+	59	14837	c.14813G>A	c.(14812-14814)gGt>gAt	p.G4938D	ABCA13_ENST00000544596.1_Missense_Mutation_p.G668D	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4938	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.G4883D(1)|p.G4938D(1)		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						AAATGTCTTGGTTCTCCTCAG	0.418000													4	18					0	0	0.021553	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418193	38418193	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:38418193G>T	ENST00000322350.5	+	12	1866	c.1520G>T	c.(1519-1521)cGg>cTg	p.R507L	EGFLAM_ENST00000354891.3_Missense_Mutation_p.R507L|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R273L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	507	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.R507L(4)		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)					ATTACTTTCCGGACACCTCTC	0.453000													39	150					1.22674e-20	1.94611e-20	0.033182	1	0
TMEM143	55260	broad.mit.edu	37	19	48845850	48845850	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:48845850G>A	ENST00000293261.3	-	6	1228	c.912C>T	c.(910-912)ctC>ctT	p.L304L	TMEM143_ENST00000435956.3_Silent_p.L269L|TMEM143_ENST00000377431.2_Silent_p.L204L|TMEM143_ENST00000436660.2_Silent_p.L239L|TMEM143_ENST00000541566.1_Silent_p.L194L	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	304						integral to membrane|mitochondrion		p.L304L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TGGCCACCTTGAGGTCGGTTA	0.672000													5	46					0	0	0.014758	0	0
ASXL3	80816	broad.mit.edu	37	18	31319419	31319419	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:31319419C>A	ENST00000269197.5	+	11	2051	c.2051C>A	c.(2050-2052)tCc>tAc	p.S684Y		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	684	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.S391Y(2)|p.S684Y(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTCCAATATCCACTTCACCT	0.363000													56	101					2.31418e-15	3.40142e-15	0.048971	1	0
PGLYRP4	57115	broad.mit.edu	37	1	153312856	153312856	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:153312856C>A	ENST00000368739.3	-	7	1171		c.e7+1		PGLYRP4_ENST00000359650.5_Splice_Site			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4						defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.?(3)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACCCACTCACTTATAACCAA	0.512000													56	80					1.53716e-24	2.57727e-24	0.048971	1	0
DMP1	1758	broad.mit.edu	37	4	88584230	88584230	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:88584230C>A	ENST00000339673.6	+	6	1399	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K	RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.Q418K	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	434					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.Q434K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GGAGGGCCTCCAGTCTCACAG	0.547000													43	78					6.1244e-12	8.4267e-12	0.030466	1	0
FBLN2	2199	broad.mit.edu	37	3	13679148	13679148	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:13679148C>T	ENST00000404922.3	+	18	3544	c.3425C>T	c.(3424-3426)aCg>aTg	p.T1142M	FBLN2_ENST00000295760.7_Missense_Mutation_p.T1095M|FBLN2_ENST00000492059.1_Missense_Mutation_p.T1142M|FBLN2_ENST00000535798.1_Missense_Mutation_p.T1121M	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1095	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.T561M(2)|p.T1142M(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AACTTCCAGACGGGCCTCCTG	0.627000													13	41					0	0	0.013537	0	0
ATP2B2	491	broad.mit.edu	37	3	10420009	10420009	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:10420009G>A	ENST00000397077.1	-	9	1568	c.993C>T	c.(991-993)gcC>gcT	p.A331A	ATP2B2_ENST00000343816.4_Silent_p.A362A|ATP2B2_ENST00000352432.4_Silent_p.A376A|ATP2B2_ENST00000383800.4_Silent_p.A331A|ATP2B2_ENST00000360273.2_Silent_p.A376A			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	376					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.A376A(2)|p.A331A(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGTGCATGCTGGCCTTCTTCC	0.647000													27	146					0	0	0.024334	0	0
VGLL3	389136	broad.mit.edu	37	3	87018101	87018101	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:87018101C>A	ENST00000398399.2	-	3	939	c.576G>T	c.(574-576)ctG>ctT	p.L192L	VGLL3_ENST00000383698.3_Silent_p.L192L	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.L192L(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGTCTGATGCAGGTTGTGTC	0.582000													24	130					7.88262e-20	1.23304e-19	0.018920	1	0
RRN3P2	653390	broad.mit.edu	37	16	29107532	29107532	+	RNA	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:29107532T>A	ENST00000564580.1	+	0	924																		p.A285A(2)									GGCAGGCTGCTGGAAATTATA	0.373000													38	88					0	0	0.045515	0	0
CXADRP3	440224	broad.mit.edu	37	18	14479211	14479211	+	RNA	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:14479211C>G	ENST00000581457.1	-	0	697					NR_024076.1																						GATACTCAAACTTCTGGTGAA	0.567000													3	21					0	0	0.004672	0	0
DDIT3	1649	broad.mit.edu	37	12	57910683	57910683	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:57910683C>A	ENST00000551116.1	-	4	755	c.488G>T	c.(487-489)cGg>cTg	p.R163L	DDIT3_ENST00000346473.3_Missense_Mutation_p.R140L|DDIT3_ENST00000547303.1_Missense_Mutation_p.R140L|DDIT3_ENST00000552740.1_Missense_Mutation_p.R163L	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	140					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	p.R140L(2)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						CTGCTTGAGCCGTTCATTCTC	0.537000			T	FUS	liposarcoma								43	139					5.44703e-19	8.44968e-19	0.036044	1	0
ELMO1	9844	broad.mit.edu	37	7	37298872	37298872	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:37298872G>C	ENST00000310758.4	-	6	974	c.327C>G	c.(325-327)agC>agG	p.S109R	ELMO1_ENST00000448602.1_Missense_Mutation_p.S109R|ELMO1_ENST00000442504.1_Missense_Mutation_p.S109R	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	109					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.S109_L110>RI(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCCGGGAGAGGCTGGCCAAGT	0.547000													68	64					0	0	0.048971	0	0
NBPF9	400818	broad.mit.edu	37	1	144823868	144823868	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:144823868T>G	ENST00000440491.2	+	9	1135	c.1135T>G	c.(1135-1137)Tat>Gat	p.Y379D	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.Y379D|NBPF9_ENST00000281815.8_Missense_Mutation_p.Y64D	NM_001037675.2	NP_001032764.1			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						GGACTCACTGTATAGATGTTA	0.478000													4	77					0	0	0.013537	0	0
AHSG	197	broad.mit.edu	37	3	186335082	186335082	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:186335082C>A	ENST00000411641.2	+	4	735	c.516C>A	c.(514-516)aaC>aaA	p.N172K	AHSG_ENST00000273784.5_Missense_Mutation_p.N173K			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	172	Cystatin fetuin-A-type 2.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).	acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	p.N172K(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCGCCTTCAACGCTCAGAACA	0.602000											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	133					7.41877e-09	9.11077e-09	0.012319	1	0
OR2M2	391194	broad.mit.edu	37	1	248343333	248343333	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:248343333G>T	ENST00000359682.2	+	1	46	c.46G>T	c.(46-48)Gga>Tga	p.G16*		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATCCTCCTTGGAATCTTCAA	0.438000													58	309					6.83704e-37	1.30229e-36	0.048971	1	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													6	115					0	0	0.029380	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													3	20					0	0	0.021553	0	0
FAM124A	220108	broad.mit.edu	37	13	51855350	51855350	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:51855350G>A	ENST00000322475.8	+	4	1734	c.1599G>A	c.(1597-1599)tcG>tcA	p.S533S	FAM124A_ENST00000280057.6_Silent_p.S569S	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	533								p.S569S(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCCCAGGGTCGGCTGGCCCCG	0.577000													43	89					0	0	0.036044	0	0
AKR1E2	83592	broad.mit.edu	37	10	4875556	4875556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:4875556C>A	ENST00000298375.7	+	3	293	c.222C>A	c.(220-222)tgC>tgA	p.C74*	AKR1E2_ENST00000334019.4_Nonsense_Mutation_p.C74*|AKR1E2_ENST00000532248.1_Nonsense_Mutation_p.C74*|AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000345253.5_Nonsense_Mutation_p.C74*	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	74						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.C74*(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						GGTGCACCTGCCATAAGAAGT	0.532000													32	140					1.7881e-09	2.2502e-09	0.037714	1	0
TAF1L	138474	broad.mit.edu	37	9	32633201	32633201	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:32633201G>T	ENST00000242310.4	-	1	2466	c.2377C>A	c.(2377-2379)Cgg>Agg	p.R793R		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	793					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R793R(2)|p.R793W(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACTAATTCCCGAATATAGTAA	0.438000													23	155					1.10513e-12	1.53187e-12	0.014323	1	0
UGT1A10	54575	broad.mit.edu	37	2	234545808	234545808	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:234545808T>A	ENST00000344644.5	+	1	709	c.640T>A	c.(640-642)Ttg>Atg	p.L214M	UGT1A10_ENST00000373445.1_Missense_Mutation_p.L214M|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1												p.L214M(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		CATCGTGCACTTGGAGGACCA	0.453000													68	311					0	0	0.048971	0	0
LIMA1	51474	broad.mit.edu	37	12	50586248	50586248	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:50586248G>A	ENST00000547825.1	-	3	1490	c.221C>T	c.(220-222)cCc>cTc	p.P74L	LIMA1_ENST00000341247.4_Missense_Mutation_p.P376L|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552909.1_Missense_Mutation_p.P216L|LIMA1_ENST00000552823.1_Missense_Mutation_p.P216L|LIMA1_ENST00000552783.1_Missense_Mutation_p.P217L|LIMA1_ENST00000394943.3_Missense_Mutation_p.P377L|LIMA1_ENST00000552491.1_Missense_Mutation_p.P74L	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	376					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.P376I(2)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CATTGCTTTGGGAGGAGAACT	0.448000													31	95					0	0	0.054565	0	0
KIT	3815	broad.mit.edu	37	4	55593452	55593452	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:55593452T>A	ENST00000288135.5	+	10	1706	c.1609T>A	c.(1609-1611)Tgc>Agc	p.C537S		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	537					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	p.C537S(2)		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)	TGGCATGATGTGCATTATTGT	0.383000		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				44	182					0	0	0.045515	0	0
GFAP	2670	broad.mit.edu	37	17	42988648	42988648	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:42988648G>T	ENST00000253408.5	-	6	1148	c.1083C>A	c.(1081-1083)atC>atA	p.I361I	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.I361I|GFAP_ENST00000435360.2_Silent_p.I361I	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	361	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.I361I(4)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGCGATCTCGATGTCCAGGG	0.632000													54	80					1.0442e-30	1.89854e-30	0.048971	1	0
IL3RA	3563	broad.mit.edu	37	X	1460672	1460672	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:1460672G>T	ENST00000331035.4	+	2	363	c.14G>T	c.(13-15)tGg>tTg	p.W5L	IL3RA_ENST00000381469.2_Missense_Mutation_p.W5L	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	5						integral to membrane|plasma membrane	interleukin-3 receptor activity	p.W5L(2)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTCCTCCTTTGGCTCACGCTG	0.607000													28	102					1.5548e-18	2.392e-18	0.027356	1	0
TET1	80312	broad.mit.edu	37	10	70405010	70405010	+	Missense_Mutation	SNP	A	A	G	rs77500190		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:70405010A>G	ENST00000373644.4	+	4	2733	c.2524A>G	c.(2524-2526)Atc>Gtc	p.I842V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	842					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.I842V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTCACACTCCATCATAAATCA	0.398000													40	170					0	0	0.023175	0	0
CCDC136	64753	broad.mit.edu	37	7	128452070	128452070	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:128452070G>T	ENST00000297788.4	+	13	2612	c.2245G>T	c.(2245-2247)Ggt>Tgt	p.G749C	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	749						integral to membrane	protein binding	p.G749F(4)|p.G749S(2)|p.G865F(2)|p.G865S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAAGAGCTATGGTAGCATGGT	0.498000													84	64					6.85908e-49	1.37182e-48	0.048971	1	0
PZP	5858	broad.mit.edu	37	12	9301592	9301592	+	Splice_Site	SNP	T	T	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:9301592T>G	ENST00000261336.2	-	36	4455		c.e36-2		PZP_ENST00000381997.2_Splice_Site	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.?(4)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GCTCTGTATCTATGGAGAAAA	0.413000													23	49					0	0	0.016522	0	0
FRG1	2483	broad.mit.edu	37	4	190876250	190876250	+	Missense_Mutation	SNP	G	G	T	rs146824996	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:190876250G>T	ENST00000226798.4	+	5	598	c.376G>T	c.(376-378)Gtt>Ttt	p.V126F	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	126					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.V126F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGGACTTGTTGTTGGGCGTTC	0.353000													11	168					0.00010058	0.000108945	0.013537	1	0
FGD6	55785	broad.mit.edu	37	12	95602937	95602937	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:95602937C>A	ENST00000343958.4	-	2	2346	c.2123G>T	c.(2122-2124)cGg>cTg	p.R708L	FGD6_ENST00000549499.1_Missense_Mutation_p.R708L|FGD6_ENST00000546711.1_Missense_Mutation_p.R708L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	708					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.R708L(2)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGTCTGGCCCCGAGACTTCTT	0.478000													54	118					1.72184e-34	3.21409e-34	0.048971	1	0
AHNAK2	113146	broad.mit.edu	37	14	105407380	105407380	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:105407380G>C	ENST00000333244.5	-	7	14527	c.14408C>G	c.(14407-14409)gCc>gGc	p.A4803G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4803						nucleus		p.A4803G(2)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGGGCCAAGGCAGCTCTGGG	0.517000													20	55					0	0	0.049695	0	0
NLRP14	338323	broad.mit.edu	37	11	7064372	7064372	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:7064372G>T	ENST00000299481.4	+	4	1461	c.1115G>T	c.(1114-1116)tGc>tTc	p.C372F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	372	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.C372F(2)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCCCTAGTGTGCTGGGCCGCT	0.443000													30	189					1.13719e-10	1.5055e-10	0.037714	1	0
ZNF135	7694	broad.mit.edu	37	19	58579730	58579730	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:58579730G>A	ENST00000506786.1	+	5	2306	c.1752G>A	c.(1750-1752)agG>agA	p.R584R	ZNF135_ENST00000439855.2_Silent_p.R626R|ZNF135_ENST00000511556.1_Silent_p.R638R|ZNF135_ENST00000401053.4_Silent_p.R650R|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Silent_p.R626R			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	638					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R650K(2)|p.R626K(2)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGCACCGGAGGATCCACACAG	0.542000													17	84					0	0	0.038395	0	0
DST	667	broad.mit.edu	37	6	56516040	56516040	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:56516040G>A	ENST00000370754.5	-	10	1117	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L	DST_ENST00000312431.6_Missense_Mutation_p.P195L|DST_ENST00000361203.3_Missense_Mutation_p.P195L|DST_ENST00000370788.2_Missense_Mutation_p.P195L|DST_ENST00000370769.4_Missense_Mutation_p.P195L|DST_ENST00000421834.2_Missense_Mutation_p.P195L			Q03001	DYST_HUMAN	dystonin	195					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.P195M(2)|p.P373M(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATCAGGTCCGGCCTAGGAAA	0.328000													6	14					0	0	0.038147	0	0
USH2A	7399	broad.mit.edu	37	1	216369952	216369952	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:216369952G>T	ENST00000366943.2	-	19	4580	c.4194C>A	c.(4192-4194)gaC>gaA	p.D1398E	USH2A_ENST00000366942.3_Missense_Mutation_p.D1398E|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.D1398E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1398	Fibronectin type-III 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D1398E(2)		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)		GCATATTGATGTCATACCCCA	0.413000										HNSCC(13;0.011)			52	93					2.01807e-28	3.55383e-28	0.048971	1	0
WDR7	23335	broad.mit.edu	37	18	54694337	54694337	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:54694337G>T	ENST00000254442.3	+	28	4583	c.4372G>T	c.(4372-4374)Ggc>Tgc	p.G1458C	WDR7_ENST00000589935.1_Missense_Mutation_p.G35C|WDR7_ENST00000357574.3_Missense_Mutation_p.G1425C	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1458								p.G1458C(2)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CGCGTCCCCCGGCTCCCACAA	0.617000													17	90					3.57192e-18	5.48021e-18	0.038395	1	0
C2orf71	388939	broad.mit.edu	37	2	29295827	29295827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:29295827C>A	ENST00000331664.5	-	1	1300	c.1301G>T	c.(1300-1302)tGc>tTc	p.C434F		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	434					response to stimulus|visual perception	photoreceptor outer segment		p.C434F(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACTGGAGAGGCATGGGCTCCT	0.567000													61	97					2.93687e-30	5.30532e-30	0.048971	1	0
PRKCB	5579	broad.mit.edu	37	16	24166178	24166178	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:24166178G>T	ENST00000303531.7	+	10	1391	c.1239_splice	c.e10+1	p.M413_splice	PRKCB_ENST00000321728.7_Splice_Site_p.M413_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	413	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.M413N(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCCAGACCATGGTAACTTGTC	0.582000													23	21					6.44725e-10	8.20559e-10	0.014323	1	0
SPATA5	166378	broad.mit.edu	37	4	123868550	123868550	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:123868550C>T	ENST00000274008.3	+	9	1690	c.1621C>T	c.(1621-1623)Ccc>Tcc	p.P541S	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	541					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	p.P541S(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCGAAGGGTACCCCATTTGCT	0.493000													33	122					0	0	0.045705	0	0
OPRM1	4988	broad.mit.edu	37	6	154411267	154411267	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:154411267C>A	ENST00000414028.2	+	2	647	c.597C>A	c.(595-597)gcC>gcA	p.A199A	OPRM1_ENST00000522236.1_Silent_p.A99A|OPRM1_ENST00000337049.4_Silent_p.A199A|OPRM1_ENST00000435918.2_Silent_p.A199A|OPRM1_ENST00000520708.1_Silent_p.A99A|OPRM1_ENST00000360422.4_Silent_p.A199A|OPRM1_ENST00000434900.2_Silent_p.A292A|OPRM1_ENST00000524163.1_Silent_p.A199A|OPRM1_ENST00000452687.2_Silent_p.A199A|OPRM1_ENST00000428397.2_Silent_p.A199A|OPRM1_ENST00000229768.5_Silent_p.A199A|OPRM1_ENST00000522555.1_Silent_p.A99A|OPRM1_ENST00000419506.2_Silent_p.A199A|OPRM1_ENST00000518759.1_Silent_p.A118A|OPRM1_ENST00000330432.7_Silent_p.A199A	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	199					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.A199A(4)|p.A292A(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCTCTTCAGCCATTGGTCTTC	0.468000													46	71					1.02687e-29	1.84309e-29	0.045515	1	0
NCLN	56926	broad.mit.edu	37	19	3204605	3204605	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:3204605C>T	ENST00000246117.4	+	9	1495	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	NCLN_ENST00000590671.1_Missense_Mutation_p.S281F	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	355					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding	p.S355F(1)		kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GTACGGTTCTCCATGGTGCAC	0.687000													10	62					0	0	0.013537	0	0
KRT82	3888	broad.mit.edu	37	12	52788890	52788890	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:52788890C>A	ENST00000257974.2	-	9	1488	c.1411G>T	c.(1411-1413)Ggc>Tgc	p.G471C	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	471	Tail.					keratin filament	protein binding|structural constituent of epidermis	p.G471C(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		ATGCTGCAGCCCCCATTGCTC	0.632000													9	75					0.000673444	0.000707558	0.008291	1	0
SNPH	9751	broad.mit.edu	37	20	1286120	1286120	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr20:1286120G>T	ENST00000381867.1	+	7	1681	c.1039G>T	c.(1039-1041)Ggt>Tgt	p.G347C	SNPH_ENST00000381873.3_Missense_Mutation_p.G303C			O15079	SNPH_HUMAN	syntaphilin	303					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	p.G303C(2)|p.G347C(2)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CATGGAGGCTGGTGTGCAGGC	0.627000													39	97					4.29476e-34	7.99025e-34	0.048971	1	0
KCNK3	3777	broad.mit.edu	37	2	26950707	26950707	+	Silent	SNP	C	C	T	rs112956865		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:26950707C>T	ENST00000302909.3	+	2	581	c.456C>T	c.(454-456)gcC>gcT	p.A152A		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	152					synaptic transmission	integral to plasma membrane		p.A152A(1)		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGGCGCGCCGACGTGTCCA	0.647000													11	99					0	0	0.013537	0	0
NLRP1	22861	broad.mit.edu	37	17	5462598	5462598	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:5462598G>A	ENST00000345221.3	-	4	1972	c.1418C>T	c.(1417-1419)gCa>gTa	p.A473V	NLRP1_ENST00000572272.1_Missense_Mutation_p.A473V|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.A473V|NLRP1_ENST00000354411.3_Missense_Mutation_p.A473V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A473V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A473V	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	473	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.A473V(6)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TACCCAACGTGCCTGCTCCAA	0.502000													8	31					0	0	0.047766	0	0
TIMD4	91937	broad.mit.edu	37	5	156376676	156376676	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:156376676A>C	ENST00000274532.2	-	4	802	c.746T>G	c.(745-747)cTg>cGg	p.L249R	TIMD4_ENST00000407087.3_Missense_Mutation_p.L249R	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	249	Ser-rich.					integral to membrane		p.L249R(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGATGTCAGCAGGACAGTGTC	0.458000													12	79					0	0	0.016723	0	0
PRDM14	63978	broad.mit.edu	37	8	70981463	70981463	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:70981463G>T	ENST00000276594.2	-	2	834	c.633C>A	c.(631-633)ccC>ccA	p.P211P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P211P(2)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCTCCAGGCTGGGAGTGACCC	0.592000													47	110					1.47857e-17	2.24391e-17	0.048971	1	0
ACSL6	23305	broad.mit.edu	37	5	131323839	131323839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:131323839C>A	ENST00000379264.2	-	7	841	c.733G>T	c.(733-735)Ggc>Tgc	p.G245C	ACSL6_ENST00000379272.2_Missense_Mutation_p.G235C|ACSL6_ENST00000379240.1_Missense_Mutation_p.G220C|ACSL6_ENST00000431707.1_Missense_Mutation_p.G200C|ACSL6_ENST00000379249.3_Missense_Mutation_p.G220C|ACSL6_ENST00000379244.1_Missense_Mutation_p.G220C|ACSL6_ENST00000296869.4_Missense_Mutation_p.G245C|ACSL6_ENST00000543479.1_Missense_Mutation_p.G220C|ACSL6_ENST00000357096.1_Missense_Mutation_p.G185C|ACSL6_ENST00000379246.1_Missense_Mutation_p.G231C|ACSL6_ENST00000544770.1_Missense_Mutation_p.G129C|ACSL6_ENST00000379255.1_Missense_Mutation_p.G185C	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	220					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G245F(4)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCTTGAGGCCTGGAGTCTCC	0.562000													156	245					2.37545e-86	5.01981e-86	0.048971	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103229014	103229014	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:103229014G>T	ENST00000375735.2	+	83	12227	c.12083G>T	c.(12082-12084)gGt>gTt	p.G4028V	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G4035V|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4028					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.G1468V(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATAACAGCTGGTTCCAAATTT	0.353000													9	8					6.40141e-05	7.01524e-05	0.010729	1	0
MDGA2	161357	broad.mit.edu	37	14	47530541	47530541	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:47530541G>T	ENST00000426342.1	-	7	1288	c.542C>A	c.(541-543)aCg>aAg	p.T181K	MDGA2_ENST00000399232.2_Missense_Mutation_p.T479K|MDGA2_ENST00000357362.3_Missense_Mutation_p.T181K|MDGA2_ENST00000439988.2_Missense_Mutation_p.T410K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	410	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.T181K(4)|p.T479K(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCAAAATCCGTGAATTTTAA	0.428000													68	90					7.59065e-32	1.40289e-31	0.048971	1	0
PARVG	64098	broad.mit.edu	37	22	44581730	44581730	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr22:44581730C>A	ENST00000422871.1	+	4	546	c.122C>A	c.(121-123)cCc>cAc	p.P41H	PARVG_ENST00000444313.2_Missense_Mutation_p.P41H|PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000415224.1_Missense_Mutation_p.P41H	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	41					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P41H(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CGGAAGGACCCCAAATTTGAA	0.612000													8	31					0.000157383	0.000169164	0.038147	1	0
HTR1A	3350	broad.mit.edu	37	5	63257347	63257347	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:63257347A>T	ENST00000323865.3	-	1	433	c.200T>A	c.(199-201)cTg>cAg	p.L67Q	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	67					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.L67Q(2)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CACGTTCTGCAGGGAGCGCTC	0.602000													20	31					0	0	0.055883	0	0
OR4D2	124538	broad.mit.edu	37	17	56247058	56247058	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:56247058C>A	ENST00000545221.1	+	1	42	c.42C>A	c.(40-42)ttC>ttA	p.F14L		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F14L(2)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACTTTGTCTTCCTGGGGCTCT	0.458000													22	154					1.87028e-06	2.15063e-06	0.012319	1	0
PILRB	29990	broad.mit.edu	37	7	99956501	99956501	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:99956501A>T	ENST00000310771.4	+	16	2749	c.253A>T	c.(253-255)Agg>Tgg	p.R85W	PILRB_ENST00000444874.1_Intron|PILRB_ENST00000452089.1_Missense_Mutation_p.R85W|PILRB_ENST00000444073.1_Missense_Mutation_p.R85W|PILRB_ENST00000448382.1_Intron			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	85	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	p.R85W(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTACAGCACAAGGCCGCCTTC	0.547000													5	169					0	0	0.038147	0	0
GNRHR	2798	broad.mit.edu	37	4	68619638	68619638	+	Missense_Mutation	SNP	C	C	T	rs104893842		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:68619638C>T	ENST00000226413.4	-	1	440	c.416G>A	c.(415-417)cGc>cAc	p.R139H	GNRHR_ENST00000420975.2_Missense_Mutation_p.R139H|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000502758.1_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	139			R -> H (in IHH; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro).		multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	p.R139H(2)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	AGCCAGGGAGCGGTCCAGGCT	0.512000													14	79					0	0	0.024245	0	0
CLEC1A	51267	broad.mit.edu	37	12	10226002	10226002	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:10226002G>T	ENST00000315330.4	-	5	614	c.552C>A	c.(550-552)gcC>gcA	p.A184A	CLEC1A_ENST00000457018.2_Silent_p.A151A|CLEC1A_ENST00000420265.2_Silent_p.A92A	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	184	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	p.A184A(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TCTGAGACGCGGCAAATTCCT	0.483000													16	90					0.0285812	0.0295304	0.028581	1	0
SPAG16	79582	broad.mit.edu	37	2	214162030	214162030	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:214162030G>T	ENST00000374309.3	+	2	65	c.65G>T	c.(64-66)tGg>tTg	p.W22L	SPAG16_ENST00000331683.5_Silent_p.L76L|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000272898.7_Silent_p.L76L|SPAG16_ENST00000447990.1_Silent_p.L76L|SPAG16_ENST00000413312.1_Silent_p.L45L|SPAG16_ENST00000432529.2_Silent_p.L76L			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	0					cilium assembly	cilium axoneme|flagellar axoneme		p.L76L(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AAGAAGATCTGGCAAAAGCAA	0.373000													8	67					1.12685e-05	1.26714e-05	0.047766	1	0
EP400	57634	broad.mit.edu	37	12	132446343	132446343	+	Missense_Mutation	SNP	G	G	C	rs141437491		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:132446343G>C	ENST00000333577.4	+	2	1288	c.1179G>C	c.(1177-1179)ttG>ttC	p.L393F	EP400_ENST00000389562.2_Missense_Mutation_p.L393F|EP400_ENST00000330386.6_Missense_Mutation_p.L393F|EP400_ENST00000389561.2_Missense_Mutation_p.L393F|EP400_ENST00000332482.4_Missense_Mutation_p.L393F			Q96L91	EP400_HUMAN	E1A binding protein p400	393					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.L393F(2)		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)		TGTTTTTCTTGCAACACTTTC	0.413000													24	115					0	0	0.018920	0	0
PPM1H	57460	broad.mit.edu	37	12	63083523	63083523	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:63083523C>A	ENST00000228705.6	-	8	1501	c.1201G>T	c.(1201-1203)Gac>Tac	p.D401Y	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	401	PP2C-like.						phosphoprotein phosphatase activity	p.D401Y(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		ATGTTGGAGTCATGCACCTTC	0.458000													9	30					0.000978159	0.00102578	0.010729	1	0
RYR2	6262	broad.mit.edu	37	1	237540714	237540714	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:237540714C>G	ENST00000366574.2	+	8	872	c.555C>G	c.(553-555)agC>agG	p.S185R	RYR2_ENST00000360064.6_Missense_Mutation_p.S183R|RYR2_ENST00000542537.1_Missense_Mutation_p.S169R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	185	MIR 2.				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	p.S183R(2)		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)			TCTTAGTTAGCGTGTCCTCTG	0.423000													21	46					0	0	0.012319	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs148273194	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274								p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458000													6	354					0.0215528	0.0223097	0.021553	1	0
LOC440040	440040	broad.mit.edu	37	11	49597720	49597720	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:49597720C>A	ENST00000527477.1	+	0	324																											CGCAGGACATCGCTTGTTCGT	0.438000													11	19					2.80697e-09	3.5009e-09	0.010729	1	0
MUC17	140453	broad.mit.edu	37	7	100663463	100663463	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:100663463T>A	ENST00000306151.4	+	1	111	c.47T>A	c.(46-48)cTc>cAc	p.L16H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	16						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.L16H(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTTGGTCCTCTCGCTCTTG	0.652000													56	37					0	0	0.048971	0	0
OR5F1	338674	broad.mit.edu	37	11	55761855	55761855	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:55761855C>G	ENST00000278409.1	-	1	246	c.247G>C	c.(247-249)Gca>Cca	p.A83P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A83P(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AATAAATCTGCCAGCATCTTT	0.458000													9	98					0	0	0.008291	0	0
SPTA1	6708	broad.mit.edu	37	1	158617395	158617395	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:158617395C>A	ENST00000368148.3	-	27	4010	c.3830G>T	c.(3829-3831)cGt>cTt	p.R1277L	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1277L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1277					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1277L(2)|p.R1277H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCTTTGTACGCCCCTGCAG	0.557000													34	176					1.45844e-13	2.0729e-13	0.054565	1	0
KCNA2	3737	broad.mit.edu	37	1	111146880	111146880	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:111146880G>T	ENST00000485317.1	-	3	1198	c.525C>A	c.(523-525)atC>atA	p.I175I	KCNA2_ENST00000440270.1_Silent_p.I175I|KCNA2_ENST00000316361.4_Silent_p.I175I|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000369770.3_Silent_p.I175I			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	175						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.I175I(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TGACAATTGAGATCAGAATCA	0.463000													58	74					4.96213e-28	8.65668e-28	0.048971	1	0
KIF21B	23046	broad.mit.edu	37	1	200978567	200978567	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:200978567T>A	ENST00000332129.2	-	2	407	c.91A>T	c.(91-93)Acc>Tcc	p.T31S	KIF21B_ENST00000422435.2_Missense_Mutation_p.T31S|KIF21B_ENST00000360529.5_Missense_Mutation_p.T31S|KIF21B_ENST00000461742.2_Missense_Mutation_p.T31S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	31	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.T31S(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTAACAGAGGTACAGATGTGA	0.592000													50	115					0	0	0.048971	0	0
ANK3	288	broad.mit.edu	37	10	61894041	61894041	+	Silent	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:61894041T>A	ENST00000280772.1	-	25	3020	c.2829A>T	c.(2827-2829)ccA>ccT	p.P943P	ANK3_ENST00000503366.1_Silent_p.P944P|ANK3_ENST00000355288.2_Silent_p.P77P|ANK3_ENST00000373827.2_Silent_p.P937P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	943					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.P578P(2)|p.P77P(2)|p.P943P(2)		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						GCTCTTTGGATGGCACAAGGA	0.398000													18	35					0	0	0.043863	0	0
NRXN1	9378	broad.mit.edu	37	2	50765580	50765580	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:50765580G>T	ENST00000404971.1	-	11	3413	c.2074C>A	c.(2074-2076)Caa>Aaa	p.Q692K	NRXN1_ENST00000405472.3_Missense_Mutation_p.Q644K|NRXN1_ENST00000406316.2_Missense_Mutation_p.Q652K|NRXN1_ENST00000401669.2_Missense_Mutation_p.Q652K|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.Q652K|NRXN1_ENST00000402717.3_Missense_Mutation_p.Q644K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	652	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.Q693K(2)|p.Q652K(2)|p.Q692K(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTTGCTTTGGCCATCGATG	0.507000													128	261					1.31875e-47	2.6188e-47	0.048971	1	0
NPAP1	23742	broad.mit.edu	37	15	24922175	24922175	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr15:24922175G>T	ENST00000329468.2	+	1	1635	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.E387D(2)									ATAAAACAGAGACCATGACAA	0.527000													13	39					0.00010058	0.000108945	0.013537	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142481342	142481342	+	RNA	SNP	G	G	C	rs146962136	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:142481342G>C	ENST00000603901.1	+	0	416					NR_001296.3																						GGCACCGAGTGCCTTATCTCC	0.557000													4	44					0	0	0.038147	0	0
MOCOS	55034	broad.mit.edu	37	18	33793329	33793329	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:33793329G>T	ENST00000261326.5	+	7	1240	c.1218_splice	c.e7-1	p.V407_splice		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	407					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	p.V407L(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AAATCCGCAGGTGGACAAAAT	0.463000													10	51					9.70103e-10	1.22355e-09	0.008291	1	0
LAMC3	10319	broad.mit.edu	37	9	133932444	133932444	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:133932444G>T	ENST00000361069.4	+	12	2201	c.2068G>T	c.(2068-2070)Gga>Tga	p.G690*	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	690	Laminin EGF-like 5; second part.				cell adhesion	basement membrane|membrane	structural molecule activity	p.G690*(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTGTGCTCCGGGATACAAGAG	0.617000													68	158					2.32817e-41	4.527e-41	0.048971	1	0
GRID2	2895	broad.mit.edu	37	4	94693324	94693324	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:94693324T>C	ENST00000282020.4	+	16	2957	c.2699T>C	c.(2698-2700)aTt>aCt	p.I900T	GRID2_ENST00000510992.1_Missense_Mutation_p.I805T	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	900					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.I900T(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACCTCGTCAATTGATTTGACC	0.453000													59	108					0	0	0.048971	0	0
KDR	3791	broad.mit.edu	37	4	55979649	55979649	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:55979649C>A	ENST00000263923.4	-	7	1094		c.e7-1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.?(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TATGCTGATGCTGAAAAAAAG	0.373000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			22	63					1.87028e-06	2.15063e-06	0.012319	1	0
TLR4	7099	broad.mit.edu	37	9	120476354	120476354	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:120476354C>T	ENST00000355622.6	+	3	2049	c.1948C>T	c.(1948-1950)Ctg>Ttg	p.L650L	TLR4_ENST00000394487.4_Silent_p.L610L|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	650					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.L650L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGTAGCAGTTCTGGTCTATAA	0.428000													20	37					0	0	0.043863	0	0
TTN	7273	broad.mit.edu	37	2	179542347	179542347	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:179542347C>A	ENST00000589042.1	-	146	34516		c.e146+1		TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(2)		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)			AGCTGCTATACCTGGTGCAGG	0.418000													18	36					3.41278e-10	4.41376e-10	0.033300	1	0
CAMSAP3	57662	broad.mit.edu	37	19	7670197	7670197	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:7670197G>T	ENST00000446248.2	+	2	335	c.234G>T	c.(232-234)ctG>ctT	p.L78L	CAMSAP3_ENST00000160298.4_Silent_p.L78L	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	78					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	p.L78L(4)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CACGGCTGCTGCTCTCAGCCG	0.667000													8	119					0.0477658	0.0491706	0.047766	1	0
EPPK1	83481	broad.mit.edu	37	8	144942384	144942384	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:144942384G>A	ENST00000525985.1	-	2	5109	c.5038C>T	c.(5038-5040)Ctg>Ttg	p.L1680L				P58107	EPIPL_HUMAN	epiplakin 1	1680						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.L1680L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTCCAGCAGGCGGATGCCG	0.687000													24	110					0	0	0.016522	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999276	112999276	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:112999276G>T	ENST00000271277.6	+	6	1387	c.1162G>T	c.(1162-1164)Gag>Tag	p.E388*		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	388						actin cytoskeleton	protein binding	p.E388*(2)|p.E388K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAACCAGTGGAGAATGGTGG	0.552000													116	182					3.69185e-53	7.51796e-53	0.048971	1	0
TTC14	151613	broad.mit.edu	37	3	180327803	180327803	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:180327803G>T	ENST00000296015.4	+	12	1918	c.1786G>T	c.(1786-1788)Gat>Tat	p.D596Y	TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	596							RNA binding	p.D596Y(2)|p.D596N(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TAGGTCTGAAGATCCAAGAGA	0.353000													62	363					2.81305e-35	5.28627e-35	0.048971	1	0
CTNNA3	29119	broad.mit.edu	37	10	67726505	67726505	+	Splice_Site	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:67726505C>A	ENST00000433211.1	-	17	2440		c.e17-1		CTNNA3_ENST00000373744.4_Splice_Site|CTNNA3_ENST00000373735.1_Splice_Site	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.?(4)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GATCTGGGCACTAAATATGAA	0.363000													18	66					1.99824e-07	2.36578e-07	0.033300	1	0
ZNF135	7694	broad.mit.edu	37	19	58579729	58579729	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:58579729G>A	ENST00000506786.1	+	5	2305	c.1751G>A	c.(1750-1752)aGg>aAg	p.R584K	ZNF135_ENST00000439855.2_Missense_Mutation_p.R626K|ZNF135_ENST00000511556.1_Missense_Mutation_p.R638K|ZNF135_ENST00000401053.4_Missense_Mutation_p.R650K|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Missense_Mutation_p.R626K			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	638					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R650K(2)|p.R626K(2)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAGCACCGGAGGATCCACACA	0.547000													20	87					0	0	0.049695	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418194	38418194	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:38418194G>C	ENST00000322350.5	+	12	1867	c.1521G>C	c.(1519-1521)cgG>cgC	p.R507R	EGFLAM_ENST00000354891.3_Silent_p.R507R|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Silent_p.R273R	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	507	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.R507L(4)		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)					TTACTTTCCGGACACCTCTCT	0.453000													40	148					0	0	0.033182	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813237	176813237	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:176813237C>A	ENST00000324417.5	+	4	366	c.275C>A	c.(274-276)cCc>cAc	p.P92H	SLC34A1_ENST00000512593.1_Missense_Mutation_p.P92H	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	92					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.P92H(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			AGGCTGGTCCCCAAGCTGCGC	0.662000													63	102					3.13296e-38	6.02907e-38	0.048971	1	0
GSN	2934	broad.mit.edu	37	9	124088797	124088797	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:124088797T>C	ENST00000373823.3	+	20	2329	c.1424T>C	c.(1423-1425)gTg>gCg	p.V475A	GSN_ENST00000449733.1_Missense_Mutation_p.V475A|GSN_ENST00000373808.2_Missense_Mutation_p.V475A|GSN_ENST00000436847.1_Missense_Mutation_p.V486A|GSN_ENST00000394353.2_Missense_Mutation_p.V486A|GSN_ENST00000545652.1_Missense_Mutation_p.V483A|GSN_ENST00000341272.2_Missense_Mutation_p.V475A|GSN_ENST00000373818.4_Missense_Mutation_p.V526A|GSN_ENST00000373807.1_Missense_Mutation_p.V257A|GSN_ENST00000412819.1_Missense_Mutation_p.V475A			P06396	GELS_HUMAN	gelsolin	526	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	p.V526A(2)|p.V475A(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CAGAGCCGTGTGGTCCAAGGC	0.637000													8	62					0	0	0.047766	0	0
OR10T2	128360	broad.mit.edu	37	1	158368914	158368914	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:158368914G>T	ENST00000334438.1	-	1	342	c.343C>A	c.(343-345)Ctc>Atc	p.L115I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L115I(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ACAGCAATGAGGAGGCAGTTG	0.498000													16	139					0.000566183	0.000598231	0.033300	1	0
OLFM2	93145	broad.mit.edu	37	19	9967991	9967991	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:9967991C>T	ENST00000264833.4	-	4	713	c.528G>A	c.(526-528)caG>caA	p.Q176Q	OLFM2_ENST00000590841.1_Silent_p.Q98Q	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	176						extracellular region		p.Q176Q(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCACCCGTTGCTGCAGGTCCT	0.647000													37	100					0	0	0.027894	0	0
SLC12A8	84561	broad.mit.edu	37	3	124802813	124802813	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:124802813T>A	ENST00000423114.2	-	14	2152	c.2153A>T	c.(2152-2154)gAg>gTg	p.E718V	SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000393469.4_Missense_Mutation_p.E689V|SLC12A8_ENST00000469902.1_Missense_Mutation_p.E689V|SLC12A8_ENST00000430155.2_Missense_Mutation_p.E490V|SLC12A8_ENST00000314584.7_Missense_Mutation_p.E350V			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	689					potassium ion transport	integral to membrane	symporter activity	p.E727V(2)|p.E689V(2)		endometrium(2)|kidney(2)|lung(12)	16						GTCTGCATTCTCCTGGGTGAG	0.587000													15	33					0	0	0.024245	0	0
ZNF621	285268	broad.mit.edu	37	3	40573808	40573808	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:40573808G>C	ENST00000339296.5	+	5	999	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	ZNF621_ENST00000403205.2_Missense_Mutation_p.E183Q|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.E72Q|ZNF621_ENST00000310898.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E183Q(2)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TAAGTGTAAGGAGTGTGGCAA	0.403000													35	64					0	0	0.017118	0	0
OR52N5	390075	broad.mit.edu	37	11	5799229	5799229	+	Silent	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:5799229A>T	ENST00000317093.2	-	1	668	c.636T>A	c.(634-636)gcT>gcA	p.A212A	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A212A(2)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CAATCAGGAGAGCAACCATTA	0.428000													13	125					0	0	0.013537	0	0
FGF10	2255	broad.mit.edu	37	5	44305247	44305247	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:44305247A>T	ENST00000264664.4	-	3	591	c.477T>A	c.(475-477)aaT>aaA	p.N159K		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	159					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	p.N159K(2)		haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TATTGTATCCATTTTCCTCTA	0.378000													56	146					0	0	0.048971	0	0
DHRS11	79154	broad.mit.edu	37	17	34951468	34951468	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:34951468C>T	ENST00000251312.5	+	2	427	c.215C>T	c.(214-216)tCa>tTa	p.S72L	DHRS11_ENST00000590554.1_5'UTR|DHRS11_ENST00000394445.1_3'UTR	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	72						extracellular region	binding|oxidoreductase activity	p.S72L(2)		endometrium(1)|lung(4)	5						TGTGACCTATCAAATGAAGAG	0.537000													21	128					0	0	0.055883	0	0
NFIC	4782	broad.mit.edu	37	19	3452610	3452610	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:3452610G>T	ENST00000589123.1	+	8	1308	c.1188G>T	c.(1186-1188)ccG>ccT	p.P396P	NFIC_ENST00000346156.5_Silent_p.P372P|NFIC_ENST00000590282.1_Silent_p.P405P|NFIC_ENST00000443272.2_Silent_p.P405P|NFIC_ENST00000395111.3_Silent_p.P396P|NFIC_ENST00000341919.3_Silent_p.P405P|NFIC_ENST00000586919.1_Silent_p.P372P	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	405					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P396P(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CCCAGGACCCGCTCAAAGATC	0.652000													34	206					1.30091e-30	2.35764e-30	0.027894	1	0
IFNL3	282617	broad.mit.edu	37	19	39734774	39734774	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:39734774C>G	ENST00000413851.2	-	3	320	c.282G>C	c.(280-282)ttG>ttC	p.L94F		NM_172139.2	NP_742151.2			interferon, lambda 3									p.L94F(2)									GCTCAGCCTCCAAAGCCACGG	0.637000													16	49					0	0	0.024245	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650791	121650791	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:121650791C>G	ENST00000393386.2	+	12	2102	c.1691C>G	c.(1690-1692)tCt>tGt	p.S564C	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S564C	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	564					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.S564C(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATACAGTTTCTATAACAGAA	0.423000													59	36					0	0	0.048971	0	0
GRM5	2915	broad.mit.edu	37	11	88337916	88337916	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:88337916A>G	ENST00000418177.2	-	5	1731	c.1364T>C	c.(1363-1365)cTa>cCa	p.L455P	GRM5_ENST00000305432.5_Missense_Mutation_p.L455P|GRM5_ENST00000393297.1_Missense_Mutation_p.L455P|GRM5_ENST00000305447.4_Missense_Mutation_p.L455P|GRM5_ENST00000455756.2_Missense_Mutation_p.L455P			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	455					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.L455P(4)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTCATCGAATAGGATCGTATC	0.433000													33	51					0	0	0.050027	0	0
FAT2	2196	broad.mit.edu	37	5	150923125	150923125	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:150923125G>A	ENST00000261800.5	-	9	7575	c.7563C>T	c.(7561-7563)atC>atT	p.I2521I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2521	Cadherin 22.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.I2521I(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTAGTTTATTGATGATAGTAT	0.413000													48	172					0	0	0.048971	0	0
GATA4	2626	broad.mit.edu	37	8	11607724	11607724	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:11607724C>G	ENST00000335135.4	+	4	1446	c.888C>G	c.(886-888)ggC>ggG	p.G296G	GATA4_ENST00000532059.1_Silent_p.G297G|GATA4_ENST00000528712.1_Silent_p.G90G	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	296			G -> S (in ASD2).		atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.G296G(2)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		ATGCCTGCGGCCTCTACATGA	0.637000													34	58					0	0	0.017118	0	0
AKR1C3	8644	broad.mit.edu	37	10	5141584	5141584	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:5141584G>T	ENST00000380554.3	+	5	1165	c.513G>T	c.(511-513)agG>agT	p.R171S	AKR1C3_ENST00000605149.1_Missense_Mutation_p.R148S|AKR1C3_ENST00000439082.2_Missense_Mutation_p.R52S	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	171					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.R171S(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TCAACCGCAGGCAGCTGGAGA	0.527000													29	74					7.38237e-10	9.35323e-10	0.030593	1	0
CSMD1	64478	broad.mit.edu	37	8	2876097	2876097	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:2876097G>C	ENST00000520002.1	-	53	8489	c.7934C>G	c.(7933-7935)gCt>gGt	p.A2645G	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.A2645G|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.A2644G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2645	Sushi 17.					integral to membrane		p.A2644G(2)|p.A2373G(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGTAAATATAGCTGTGGCCCC	0.483000													42	239					0	0	0.048971	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432903	104432903	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:104432903G>T	ENST00000361820.3	-	3	2391	c.1791C>A	c.(1789-1791)ctC>ctA	p.L597L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	597					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.L597L(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTACAATATAGAGGTCGAAGT	0.453000													14	85					9.05144e-12	1.23329e-11	0.016723	1	0
SCN3A	6328	broad.mit.edu	37	2	165984466	165984466	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:165984466C>A	ENST00000360093.3	-	18	3559	c.3068G>T	c.(3067-3069)cGg>cTg	p.R1023L	SCN3A_ENST00000283254.7_Missense_Mutation_p.R1023L|SCN3A_ENST00000409101.3_Missense_Mutation_p.R974L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1023						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1023L(2)|p.R974L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GAAACACTCCCGCATCTTATT	0.358000													29	79					1.32181e-22	2.16437e-22	0.034045	1	0
DIAPH3	81624	broad.mit.edu	37	13	60490351	60490351	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:60490351C>A	ENST00000400324.4	-	19	2423	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*	DIAPH3_ENST00000400319.1_Nonsense_Mutation_p.E665*|DIAPH3_ENST00000267215.4_Nonsense_Mutation_p.E735*|DIAPH3_ENST00000377908.2_Nonsense_Mutation_p.E724*|DIAPH3_ENST00000400330.1_Nonsense_Mutation_p.E735*|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Nonsense_Mutation_p.E689*	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	735	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.E735*(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTGATTTCCTCATATGGCACC	0.348000													25	70					4.26978e-12	5.88935e-12	0.018920	1	0
USP16	10600	broad.mit.edu	37	21	30415863	30415863	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr21:30415863T>C	ENST00000334352.4	+	14	1530	c.1299T>C	c.(1297-1299)tcT>tcC	p.S433S	USP16_ENST00000399975.3_Silent_p.S432S|USP16_ENST00000535828.1_Silent_p.S62S|USP16_ENST00000399976.2_Silent_p.S433S	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	433					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.S433S(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						ATATTCCTTCTGGAACAAGTA	0.333000													11	46					0	0	0.010729	0	0
LAMA2	3908	broad.mit.edu	37	6	129674483	129674483	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:129674483C>T	ENST00000421865.2	+	32	4747	c.4698C>T	c.(4696-4698)cgC>cgT	p.R1566R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1566	Laminin EGF-like 17.				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	p.R1566R(2)		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)		GGCATGCACGCGAGGGCTGGG	0.537000													24	64					0	0	0.024334	0	0
OLFM2	93145	broad.mit.edu	37	19	9968420	9968420	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:9968420C>T	ENST00000264833.4	-	3	516	c.331G>A	c.(331-333)Gat>Aat	p.D111N	OLFM2_ENST00000590841.1_Missense_Mutation_p.D33N	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	111						extracellular region		p.D111N(3)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						AGGGACCCATCAGCTGCCCGG	0.577000													36	61					0	0	0.017118	0	0
COL22A1	169044	broad.mit.edu	37	8	139688869	139688869	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:139688869C>T	ENST00000303045.6	-	41	3528	c.3082G>A	c.(3082-3084)Gga>Aga	p.G1028R	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1008R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1028	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G1028R(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGAGCTCCTCGATCCCCC	0.507000										HNSCC(7;0.00092)			4	3					0	0	0.009096	0	0
MPEG1	219972	broad.mit.edu	37	11	58979381	58979381	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:58979381G>T	ENST00000361050.3	-	1	1043	c.958C>A	c.(958-960)Cct>Act	p.P320T		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	320	MACPF.					integral to membrane		p.P320T(2)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGCAAGTCAGGTAGCATGTTG	0.557000													46	76					6.08268e-21	9.76017e-21	0.048971	1	0
ZNF845	91664	broad.mit.edu	37	19	53854476	53854476	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:53854476G>C	ENST00000458035.1	+	4	665	c.548G>C	c.(547-549)aGg>aCg	p.R183T	ZNF845_ENST00000595091.1_Missense_Mutation_p.R183T	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R183T(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATTTCTTGTAGGCCTAAAACC	0.373000													33	73					0	0	0.045705	0	0
CRB1	23418	broad.mit.edu	37	1	197396952	197396952	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:197396952G>T	ENST00000367397.1	+	3	1498	c.640G>T	c.(640-642)Ggt>Tgt	p.G214C	CRB1_ENST00000544212.1_Missense_Mutation_p.G314C|CRB1_ENST00000367400.3_Missense_Mutation_p.G833C|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.G764C|CRB1_ENST00000367399.2_Missense_Mutation_p.G721C			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	833	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.G833C(2)		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						CATCTACATTGGTGGCCTACC	0.378000													27	40					2.50493e-22	4.07779e-22	0.024334	1	0
NF1	4763	broad.mit.edu	37	17	29657518	29657518	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:29657518T>A	ENST00000358273.4	+	39	6195		c.e39+2		NF1_ENST00000581113.2_Splice_Site|NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(7)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCAAATCTAGTAAGTAATGAT	0.323000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			41	37					0	0	0.027894	0	0
LOC100420587	100420587	broad.mit.edu	37	19	29215153	29215153	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:29215153C>A	ENST00000592347.1	-	0	388																											GACTGTCCGCCATCCAGATGG	0.443000													4	35					0.0215528	0.0223097	0.021553	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058156	152058156	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:152058156G>A	ENST00000368806.1	-	3	2066	c.2002C>T	c.(2002-2004)Ctg>Ttg	p.L668L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	668							calcium ion binding	p.L668L(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCTATTTCCAGGGACTTTCTA	0.507000													53	293					0	0	0.048971	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282950	52282950	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:52282950G>T	ENST00000301190.6	+	3	723	c.496G>T	c.(496-498)Gac>Tac	p.D166Y	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000340970.4_Missense_Mutation_p.D31Y	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	31								p.D166Y(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CAAAGGAGGGGACACGGCCCT	0.612000													13	127					0.000219431	0.00023406	0.020292	1	0
FAM98A	25940	broad.mit.edu	37	2	33810265	33810265	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:33810265G>A	ENST00000238823.8	-	8	1275	c.1135C>T	c.(1135-1137)Cat>Tat	p.H379Y	FAM98A_ENST00000441530.2_Missense_Mutation_p.H184Y|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	380	Gly-rich.							p.H379Y(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCTCCTTGATGCTTATTTCCT	0.567000													67	125					0	0	0.048971	0	0
CCNJL	79616	broad.mit.edu	37	5	159680488	159680488	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:159680488T>C	ENST00000393977.3	-	7	1490	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.H354R	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	402						nucleus		p.H402R(2)		endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATGGCCATATGCATGCTAAG	0.607000													99	88					0	0	0.048971	0	0
ENG	2022	broad.mit.edu	37	9	130588868	130588868	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:130588868C>A	ENST00000344849.3	-	4	724	c.444G>T	c.(442-444)gaG>gaT	p.E148D	ENG_ENST00000373203.4_Missense_Mutation_p.E148D			P17813	EGLN_HUMAN	endoglin	148					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	p.E148D(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CAGCTGCCCACTCAAGGATCT	0.612000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				15	98					1.45105e-14	2.08892e-14	0.038395	1	0
CHIT1	1118	broad.mit.edu	37	1	203192633	203192633	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:203192633G>T	ENST00000367229.1	-	5	504	c.470C>A	c.(469-471)aCc>aAc	p.T157N	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.T138N|CHIT1_ENST00000535569.1_Missense_Mutation_p.T148N	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	157					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	p.T157N(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTGTACCAGGGTTGTGAAGCG	0.627000													18	93					9.86323e-18	1.50093e-17	0.021523	1	0
FLG2	388698	broad.mit.edu	37	1	152323916	152323916	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:152323916C>A	ENST00000388718.5	-	3	6418	c.6346G>T	c.(6346-6348)Ggg>Tgg	p.G2116W	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2116							calcium ion binding|structural molecule activity	p.G2116W(2)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGAGACCCCTGAGTGCACT	0.532000													123	664					1.62317e-47	3.21192e-47	0.048971	1	0
ADAM7	8756	broad.mit.edu	37	8	24350690	24350690	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:24350690A>T	ENST00000175238.6	+	16	1873	c.1790A>T	c.(1789-1791)gAt>gTt	p.D597V	RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.D369V|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.D597V	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	597	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.D597V(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTATACCATGATTCTACAGAC	0.403000													24	49					0	0	0.018920	0	0
NF1	4763	broad.mit.edu	37	17	29667614	29667614	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:29667614T>A	ENST00000358273.4	+	47	7396	c.7013T>A	c.(7012-7014)cTt>cAt	p.L2338H	NF1_ENST00000356175.3_Missense_Mutation_p.L2317H|NF1_ENST00000444181.2_Missense_Mutation_p.L131H|NF1_ENST00000417592.2_Missense_Mutation_p.L51H	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2338					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.L2338H(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCGCACTTCTTGAACAAAAC	0.443000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			8	84					0	0	0.038147	0	0
ARSF	416	broad.mit.edu	37	X	2990067	2990067	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:2990067G>T	ENST00000381127.1	+	3	233	c.11_splice	c.e3-1	p.R4_splice	ARSF_ENST00000359361.2_Splice_Site_p.R4_splice|ARSF_ENST00000537104.1_Splice_Site_p.R4_splice	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	4						extracellular region	arylsulfatase activity|metal ion binding	p.R4S(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCTTTCCAGGAGACCCTTGG	0.493000													21	41					7.45023e-12	1.01759e-11	0.055883	1	0
PCDH17	27253	broad.mit.edu	37	13	58207470	58207470	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:58207470G>T	ENST00000377918.3	+	1	816	c.790G>T	c.(790-792)Gat>Tat	p.D264Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	264	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.D264Y(2)		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)		AGTGGTCATCGATCTGAACGC	0.587000													52	128					6.81593e-30	1.22731e-29	0.048971	1	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078030	90078030	+	RNA	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:90078030G>T	ENST00000390270.2	+	0	164																											CGGAGAAATTGTGTTGACGCA	0.488000													48	92					1.07234e-20	1.706e-20	0.048971	1	0
TG	7038	broad.mit.edu	37	8	134042065	134042065	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:134042065G>T	ENST00000220616.4	+	41	7076		c.e41-1		TG_ENST00000377869.1_Splice_Site|TG_ENST00000519543.1_Splice_Site|TG_ENST00000542445.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.?(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTTTCTGAAGGGTCCGGAGA	0.572000													19	47					3.62473e-10	4.67707e-10	0.012319	1	0
HSPA6	3310	broad.mit.edu	37	1	161496061	161496061	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:161496061T>A	ENST00000309758.4	+	1	2026	c.1613T>A	c.(1612-1614)gTg>gAg	p.V538E		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	538					response to unfolded protein		ATP binding	p.V538E(2)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGGGACAGAGTGGCTGCCAAA	0.547000													9	30					0	0	0.008291	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126597	37126597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:37126597G>T	ENST00000336755.5	+	2	374	c.268G>T	c.(268-270)Gag>Tag	p.E90*	ZCCHC7_ENST00000322831.6_Nonsense_Mutation_p.E89*|ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	90							nucleic acid binding|zinc ion binding	p.E90*(2)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		AGATGGGTCAGAGGTCATCAC	0.398000													30	229					3.90053e-15	5.70312e-15	0.050027	1	0
PHLDA3	23612	broad.mit.edu	37	1	201437745	201437745	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:201437745C>T	ENST00000367311.3	-	1	567	c.170G>A	c.(169-171)cGc>cAc	p.R57H	PHLDA3_ENST00000367309.1_Missense_Mutation_p.R57H	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	57	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding			lung(1)|prostate(1)	2						GGCCTTGATGCGGGCGAAGCT	0.687000													4	132					0	0	0.009096	0	0
ZNF208	7757	broad.mit.edu	37	19	22155180	22155180	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:22155180C>T	ENST00000397126.4	-	4	2804	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.E786K(4)|p.E886K(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGGGTTTCTCTCCAGTATGA	0.378000													38	66					0	0	0.019004	0	0
SCN5A	6331	broad.mit.edu	37	3	38622447	38622447	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:38622447C>A	ENST00000413689.1	-	17	3396	c.3203G>T	c.(3202-3204)gGc>gTc	p.G1068V	SCN5A_ENST00000451551.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1068V|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1068V|SCN5A_ENST00000414099.2_Missense_Mutation_p.G1068V|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1068V|SCN5A_ENST00000455624.2_Missense_Mutation_p.G1068V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1068					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.G1068V(4)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCCTCCGTGCCCAGGCTGTT	0.632000													10	35					3.86212e-05	4.24909e-05	0.008291	1	0
KHNYN	23351	broad.mit.edu	37	14	24901180	24901180	+	Missense_Mutation	SNP	G	G	T	rs142344659		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:24901180G>T	ENST00000251343.5	+	3	852	c.713G>T	c.(712-714)gGa>gTa	p.G238V	KHNYN_ENST00000553935.1_Missense_Mutation_p.G238V|KHNYN_ENST00000556842.1_Missense_Mutation_p.G238V			O15037	KHNYN_HUMAN	KH and NYN domain containing	238								p.G238V(2)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTGGACACTGGATCTATGGGA	0.627000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	123					2.5401e-28	4.4591e-28	0.048971	1	0
ANKRD36C	400986	broad.mit.edu	37	2	96579878	96579878	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:96579878C>T	ENST00000456556.1	-	40	2613	c.2529G>A	c.(2527-2529)gaG>gaA	p.E843E	ANKRD36C_ENST00000420871.2_5'UTR|ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000295246.5_5'UTR					ankyrin repeat domain 36C									p.E843E(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTTCTCCATCCTCTTTTCCTC	0.343000													6	3					0	0	0.029380	0	0
THSD7A	221981	broad.mit.edu	37	7	11486977	11486977	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:11486977C>A	ENST00000423059.3	-	12	2931	c.2680G>T	c.(2680-2682)Gcc>Tcc	p.A894S	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	894						integral to membrane		p.A894S(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGGGTAAGGGCTGGCACAGGG	0.507000										HNSCC(18;0.044)			18	60					1.99824e-07	2.36578e-07	0.033300	1	0
NAALAD2	10003	broad.mit.edu	37	11	89896515	89896515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:89896515G>T	ENST00000534061.1	+	10	1343	c.1113G>T	c.(1111-1113)tgG>tgT	p.W371C	NAALAD2_ENST00000321955.4_Missense_Mutation_p.W338C|NAALAD2_ENST00000525171.1_Missense_Mutation_p.W278C|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	371	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.W371C(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGGACTCCTGGGTATTTGGAG	0.383000													42	258					9.85913e-13	1.37341e-12	0.036044	1	0
MAP2	4133	broad.mit.edu	37	2	210574656	210574656	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:210574656G>T	ENST00000360351.4	+	12	5257	c.4751G>T	c.(4750-4752)aGa>aTa	p.R1584I	MAP2_ENST00000199940.6_Missense_Mutation_p.R285I|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Missense_Mutation_p.R1580I|MAP2_ENST00000361559.4_Missense_Mutation_p.R228I|MAP2_ENST00000392194.1_Missense_Mutation_p.R228I	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1584					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.R285I(2)|p.R1584I(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CCAATTCGCAGAGCAGGGAAG	0.498000													40	98					7.62715e-32	1.405e-31	0.030466	1	0
SPG11	80208	broad.mit.edu	37	15	44914493	44914493	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr15:44914493A>G	ENST00000261866.7	-	13	2385	c.2369T>C	c.(2368-2370)aTa>aCa	p.I790T	SPG11_ENST00000427534.2_Missense_Mutation_p.I790T|SPG11_ENST00000558319.1_Missense_Mutation_p.I790T|SPG11_ENST00000535302.2_Missense_Mutation_p.I790T	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	790					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CACGAAGTCTATAGTTCTTTT	0.299000													3	48					0	0	0.004672	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698533	111698533	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:111698533C>A	ENST00000340433.2	+	1	807	c.577C>A	c.(577-579)Cag>Aag	p.Q193K		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	193							nucleic acid binding|zinc ion binding	p.Q193K(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGATCCCAACCAGGATGAAGA	0.473000													91	97					4.78148e-37	9.13867e-37	0.048971	1	0
LTF	4057	broad.mit.edu	37	3	46496816	46496816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:46496816C>A	ENST00000231751.4	-	5	911	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	LTF_ENST00000417439.1_Nonsense_Mutation_p.E206*|LTF_ENST00000426532.2_Nonsense_Mutation_p.E162*	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	206	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.Q205_E206>H*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AAGTACGGTTCCTGGGAGGAG	0.582000													15	88					3.27435e-08	3.96891e-08	0.020292	1	0
PLXNA4	91584	broad.mit.edu	37	7	131830026	131830026	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:131830026C>A	ENST00000359827.3	-	29	6039	c.5077G>T	c.(5077-5079)Gat>Tat	p.D1693Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1693Y			Q9HCM2	PLXA4_HUMAN	plexin A4	1693						integral to membrane|intracellular|plasma membrane		p.D1693Y(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAGAGGTCATCCACAAACTTC	0.537000													26	24					4.59853e-10	5.8794e-10	0.027356	1	0
NMD3	51068	broad.mit.edu	37	3	160945076	160945076	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:160945076A>T	ENST00000460469.1	+	3	676	c.221A>T	c.(220-222)gAa>gTa	p.E74V	NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Missense_Mutation_p.E74V|NMD3_ENST00000351193.2_Missense_Mutation_p.E74V			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	74					protein transport	cytoplasm|nucleolus|nucleoplasm		p.E74V(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TGTGCTTTAGAATCCAGGGAA	0.358000													10	80					0	0	0.013537	0	0
ABHD16A	7920	broad.mit.edu	37	6	31671050	31671050	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:31671050C>A	ENST00000395952.3	-	1	171	c.9G>T	c.(7-9)aaG>aaT	p.K3N	XXbac-BPG32J3.20_ENST00000461287.1_Intron|ABHD16A_ENST00000538874.1_5'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	3						integral to membrane	hydrolase activity|protein binding	p.K3N(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						AGCTCAGCAGCTTCGCCATGG	0.682000													16	30					1.5739e-10	2.07384e-10	0.028581	1	0
MDM1	56890	broad.mit.edu	37	12	68708818	68708818	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:68708818C>A	ENST00000303145.7	-	9	1495	c.1409G>T	c.(1408-1410)gGg>gTg	p.G470V	MDM1_ENST00000540418.1_Missense_Mutation_p.G190V|MDM1_ENST00000411698.2_Missense_Mutation_p.G435V	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	470						nucleus		p.G470L(2)|p.G470V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTTCCTGTCCCCTTCCTCTTC	0.498000													46	332					2.13384e-23	3.54584e-23	0.048971	1	0
IGSF11	152404	broad.mit.edu	37	3	118624531	118624531	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:118624531G>T	ENST00000354673.2	-	7	992	c.612C>A	c.(610-612)atC>atA	p.I204I	IGSF11_ENST00000489689.1_Silent_p.I205I|IGSF11_ENST00000393775.2_Silent_p.I205I|IGSF11_ENST00000425327.2_Silent_p.I204I|IGSF11_ENST00000441144.2_Silent_p.I204I|IGSF11_ENST00000491903.1_Silent_p.I205I	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	205	Ig-like C2-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	p.I204I(2)|p.I205I(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACAGGGCACTGATGTTCCGGA	0.473000													13	87					1.61879e-10	2.11805e-10	0.013537	1	0
MYH6	4624	broad.mit.edu	37	14	23871768	23871768	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:23871768C>A	ENST00000405093.3	-	12	1116	c.1046G>T	c.(1045-1047)gGc>gTc	p.G349V	MYH6_ENST00000356287.3_Missense_Mutation_p.G349V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	349	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.G349V(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTGTAGACGCCAGCTTTCTC	0.612000													70	331					1.34568e-36	2.5545e-36	0.048971	1	0
OR6S1	341799	broad.mit.edu	37	14	21109284	21109284	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:21109284G>T	ENST00000320704.3	-	1	566	c.567C>A	c.(565-567)cgC>cgA	p.R189R		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R189R(2)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGCAAGCCAGGCGGAGCAGTG	0.572000													62	80					1.19403e-26	2.0511e-26	0.048971	1	0
GDF2	2658	broad.mit.edu	37	10	48413769	48413769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:48413769C>A	ENST00000249598.1	-	2	1258	c.1099G>T	c.(1099-1101)Gat>Tat	p.D367Y		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	367					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.D367Y(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGCGTCACATCGTCAGCCAAG	0.577000													19	91					4.35082e-09	5.40234e-09	0.055883	1	0
KIAA2018	205717	broad.mit.edu	37	3	113388977	113388977	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:113388977G>A	ENST00000316407.4	-	5	560	c.150C>T	c.(148-150)gcC>gcT	p.A50A	KIAA2018_ENST00000491165.1_Silent_p.A50A|KIAA2018_ENST00000478658.1_Silent_p.A50A	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	50	Helix-loop-helix motif.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.A50A(2)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CCTGCTTCAGGGCAGGAGAAC	0.368000													11	104					0	0	0.010729	0	0
PTPRC	5788	broad.mit.edu	37	1	198703339	198703339	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:198703339C>G	ENST00000367376.2	+	21	2322	c.2151C>G	c.(2149-2151)ccC>ccG	p.P717P	PTPRC_ENST00000352140.3_Silent_p.P669P|PTPRC_ENST00000594404.1_Silent_p.P556P|PTPRC_ENST00000348564.6_Silent_p.P558P|PTPRC_ENST00000442510.2_Silent_p.P719P	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	717	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.P717P(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCAAAGAACCCAGGAAATACA	0.294000													53	84					0	0	0.048971	0	0
BCHE	590	broad.mit.edu	37	3	165548021	165548021	+	Silent	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:165548021A>T	ENST00000264381.3	-	2	967	c.801T>A	c.(799-801)gcT>gcA	p.A267A	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	267					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.A267A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTCTGTTCCTAGCTTCATAAA	0.403000													33	101					0	0	0.050027	0	0
NUP205	23165	broad.mit.edu	37	7	135304240	135304240	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:135304240C>T	ENST00000285968.6	+	29	4059	c.4033C>T	c.(4033-4035)Cac>Tac	p.H1345Y		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1345					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.H1345Y(2)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ACTGACTGCTCACCTAAGCCA	0.502000													19	101					0	0	0.043863	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31104473	31104473	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:31104473C>A	ENST00000304166.4	+	3	367	c.78C>A	c.(76-78)atC>atA	p.I26I	ADCYAP1R1_ENST00000409489.1_Silent_p.I26I|ADCYAP1R1_ENST00000409363.1_Silent_p.I26I|ADCYAP1R1_ENST00000396211.2_Silent_p.I26I	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	26					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.I26I(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CTGACTGCATCTTCAAGAAGG	0.582000													10	94					2.17888e-05	2.43547e-05	0.006214	1	0
USH1C	10083	broad.mit.edu	37	11	17554815	17554815	+	Silent	SNP	G	G	T	rs121908370		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:17554815G>T	ENST00000005226.7	-	2	90	c.91C>A	c.(91-93)Cga>Aga	p.R31R	USH1C_ENST00000527020.1_Silent_p.R31R|USH1C_ENST00000318024.4_Silent_p.R31R|USH1C_ENST00000527720.1_5'UTR	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	31					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.R31R(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TGGTACATTCGCAGCACATCA	0.507000													18	105					2.94398e-08	3.58398e-08	0.043863	1	0
LIMA1	51474	broad.mit.edu	37	12	50586249	50586249	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:50586249G>T	ENST00000547825.1	-	3	1489	c.220C>A	c.(220-222)Ccc>Acc	p.P74T	LIMA1_ENST00000341247.4_Missense_Mutation_p.P376T|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552909.1_Missense_Mutation_p.P216T|LIMA1_ENST00000552823.1_Missense_Mutation_p.P216T|LIMA1_ENST00000552783.1_Missense_Mutation_p.P217T|LIMA1_ENST00000394943.3_Missense_Mutation_p.P377T|LIMA1_ENST00000552491.1_Missense_Mutation_p.P74T	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	376					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.P376I(2)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ATTGCTTTGGGAGGAGAACTT	0.448000													32	95					9.17885e-22	1.47706e-21	0.015359	1	0
LAMC1	3915	broad.mit.edu	37	1	183091312	183091312	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:183091312C>A	ENST00000258341.4	+	13	2584	c.2327C>A	c.(2326-2328)cCt>cAt	p.P776H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	776	Laminin EGF-like 7.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.P776H(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTCCGTGTCCTGGAGGTTCA	0.537000													27	151					1.42536e-11	1.91875e-11	0.024334	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072820	17072820	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr22:17072820C>G	ENST00000359963.3	-	1	880	c.621G>C	c.(619-621)gcG>gcC	p.A207A		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	207					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.A207A(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCCCGGGCAGCGCGCACACCC	0.617000													20	116					0	0	0.012319	0	0
NBEA	26960	broad.mit.edu	37	13	35770394	35770394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:35770394G>T	ENST00000540320.1	+	31	5855	c.5321G>T	c.(5320-5322)aGa>aTa	p.R1774I	NBEA_ENST00000379939.2_Missense_Mutation_p.R1771I|NBEA_ENST00000400445.3_Missense_Mutation_p.R1774I|NBEA_ENST00000310336.4_Missense_Mutation_p.R1774I			Q8NFP9	NBEA_HUMAN	neurobeachin	1774						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.R1774I(2)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCATTGAAGAGAGAAACACAA	0.393000													18	47					1.67942e-08	2.04896e-08	0.038395	1	0
LAMA2	3908	broad.mit.edu	37	6	129635942	129635942	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:129635942G>T	ENST00000421865.2	+	24	3603	c.3555_splice	c.e24+1	p.W1185_splice		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1185	Laminin IV type A 2.				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	p.W1185F(2)		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)		ATCCGGACGTGGGTGAGTAGG	0.483000													25	81					9.39395e-14	1.34199e-13	0.030593	1	0
PRR23A	729627	broad.mit.edu	37	3	138724401	138724401	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:138724401G>T	ENST00000383163.2	-	1	709	c.710C>A	c.(709-711)tCt>tAt	p.S237Y		NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	237	Pro-rich.							p.S237Y(1)		endometrium(3)|kidney(1)|lung(7)	11						CACGCGCGGAGAGGGAGGTAG	0.652000													5	16					0.000602214	0.00063391	0.014758	1	0
TSGA10IP	254187	broad.mit.edu	37	11	65715521	65715521	+	RNA	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:65715521C>T	ENST00000532620.1	+	0	1284							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.S321S(1)		endometrium(2)|kidney(3)|lung(9)	14						TCCAGGCCTCCAAGCGGAATG	0.597000													4	9					0	0	0.009096	0	0
VILL	50853	broad.mit.edu	37	3	38040837	38040837	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:38040837G>T	ENST00000283713.6	+	11	1355	c.1089G>T	c.(1087-1089)tcG>tcT	p.S363S	VILL_ENST00000383759.2_Silent_p.S363S|VILL_ENST00000465644.1_Silent_p.S81S			O15195	VILL_HUMAN	villin-like	363					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	p.S363S(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CAGATAAATCGATTCATGTAA	0.617000													12	60					0.000151284	0.000163551	0.016723	1	0
LOC440040	440040	broad.mit.edu	37	11	49831408	49831408	+	RNA	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:49831408C>A	ENST00000527477.1	+	0	1633																											ACTGCAACACCTACAAGTTTT	0.453000													21	49					7.45023e-12	1.01759e-11	0.055883	1	0
SPTA1	6708	broad.mit.edu	37	1	158607828	158607828	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:158607828C>A	ENST00000368148.3	-	36	5364	c.5184G>T	c.(5182-5184)tgG>tgT	p.W1728C	SPTA1_ENST00000368147.3_Missense_Mutation_p.W1728C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1728					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.W1728C(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATACTCTATCCAGGATTCCT	0.408000													80	163					8.40228e-50	1.69866e-49	0.048971	1	0
SLC8A1	6546	broad.mit.edu	37	2	40655830	40655830	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:40655830T>A	ENST00000406785.1	-	2	1780	c.1591A>T	c.(1591-1593)Att>Ttt	p.I531F	SLC8A1_ENST00000403092.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000402441.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000542756.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.I531F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.I531F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.I531F|SLC8A1_ENST00000332839.4_Missense_Mutation_p.I531F|SLC8A1_ENST00000405901.3_Missense_Mutation_p.I531F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	531	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.I531F(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCATCAAAAATAGTTACAGTG	0.438000													43	97					0	0	0.039052	0	0
SLIT3	6586	broad.mit.edu	37	5	168201305	168201305	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:168201305C>A	ENST00000519560.1	-	13	1649	c.1230G>T	c.(1228-1230)ctG>ctT	p.L410L	SLIT3_ENST00000332966.8_Silent_p.L410L|SLIT3_ENST00000404867.3_Silent_p.L410L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	410					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.L410L(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTTGTCATACAGGGAGAGCA	0.567000													244	355					1.40248e-98	2.97497e-98	0.048971	1	0
DST	667	broad.mit.edu	37	6	56516041	56516041	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:56516041G>T	ENST00000370754.5	-	10	1116	c.1115_splice	c.e10-1	p.P373_splice	DST_ENST00000312431.6_Splice_Site_p.P195_splice|DST_ENST00000361203.3_Splice_Site_p.P195_splice|DST_ENST00000370788.2_Splice_Site_p.P195_splice|DST_ENST00000370769.4_Splice_Site_p.P195_splice|DST_ENST00000421834.2_Splice_Site_p.P195_splice			Q03001	DYST_HUMAN	dystonin	195					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.P195M(2)|p.P373M(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCAGGTCCGGCCTAGGAAAA	0.323000													6	13					0.000157383	0.000169164	0.038147	1	0
CCDC136	64753	broad.mit.edu	37	7	128452071	128452071	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:128452071G>T	ENST00000297788.4	+	13	2613	c.2246G>T	c.(2245-2247)gGt>gTt	p.G749V	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	749						integral to membrane	protein binding	p.G749F(4)|p.G865F(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AAGAGCTATGGTAGCATGGTC	0.498000													84	63					6.85908e-49	1.37182e-48	0.048971	1	0
GPR112	139378	broad.mit.edu	37	X	135431732	135431732	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:135431732C>T	ENST00000394143.1	+	6	6158	c.5867C>T	c.(5866-5868)tCa>tTa	p.S1956L	GPR112_ENST00000287534.4_Missense_Mutation_p.S1893L|GPR112_ENST00000412101.1_Missense_Mutation_p.S1751L|GPR112_ENST00000394141.1_Missense_Mutation_p.S1751L|GPR112_ENST00000370652.1_Missense_Mutation_p.S1956L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1956					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1956L(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAGAACCCTTCATTATCAACA	0.428000													72	94					0	0	0.048971	0	0
TMEM40	55287	broad.mit.edu	37	3	12777053	12777053	+	Splice_Site	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:12777053C>T	ENST00000314124.7	-	11	1039		c.e11+1		TMEM40_ENST00000435575.1_Splice_Site|TMEM40_ENST00000431022.2_Splice_Site|TMEM40_ENST00000476331.1_Splice_Site|TMEM40_ENST00000264728.8_Splice_Site|TMEM40_ENST00000435218.2_Splice_Site	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40							integral to membrane		p.?(2)		breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TTAAAAGTTACCTGTCAGCCT	0.448000													21	109					0	0	0.016522	0	0
GFAP	2670	broad.mit.edu	37	17	42989121	42989121	+	Silent	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:42989121G>C	ENST00000253408.5	-	5	890	c.825C>G	c.(823-825)ctC>ctG	p.L275L	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.L275L|GFAP_ENST00000435360.2_Silent_p.L275L	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	275	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.L275L(4)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGCCTGGCGGAGCAGCTCCG	0.677000													38	52					0	0	0.033182	0	0
DHFRL1	200895	broad.mit.edu	37	3	93780055	93780055	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:93780055T>A	ENST00000394221.2	-	2	750	c.301A>T	c.(301-303)Act>Tct	p.T101S	DHFRL1_ENST00000314636.2_Missense_Mutation_p.T101S|DHFRL1_ENST00000481631.1_Intron	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	101	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding	p.T101S(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						GGTCGTTCAGTAAGTTTTAAG	0.378000													15	179					0	0	0.020292	0	0
IL2RB	3560	broad.mit.edu	37	22	37533689	37533689	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr22:37533689G>T	ENST00000216223.5	-	6	673	c.475C>A	c.(475-477)Cac>Aac	p.H159N		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	159	Fibronectin type-III.				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	p.H159N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCAAAGTAGTGGGAGGCTTGG	0.587000													27	115					1.42536e-11	1.91875e-11	0.024334	1	0
MDM1	56890	broad.mit.edu	37	12	68708819	68708819	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:68708819C>A	ENST00000303145.7	-	9	1494	c.1408G>T	c.(1408-1410)Ggg>Tgg	p.G470W	MDM1_ENST00000540418.1_Missense_Mutation_p.G190W|MDM1_ENST00000411698.2_Missense_Mutation_p.G435W	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	470						nucleus		p.G470L(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTCCTGTCCCCTTCCTCTTCA	0.498000													47	335					4.18559e-23	6.89391e-23	0.048971	1	0
ROBO2	6092	broad.mit.edu	37	3	77684057	77684057	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:77684057C>A	ENST00000461745.1	+	24	4697	c.3797C>A	c.(3796-3798)aCc>aAc	p.T1266N	ROBO2_ENST00000487694.3_Missense_Mutation_p.T1282N|ROBO2_ENST00000332191.8_Missense_Mutation_p.T1327N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1266					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.T1282N(2)|p.T1266N(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCTCGACCTACCAGCCCATTT	0.463000													37	94					1.07121e-22	1.75917e-22	0.027894	1	0
FAM86HP	729375	broad.mit.edu	37	3	129821661	129821661	+	RNA	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:129821661T>C	ENST00000500074.2	-	0	484																											GTAAAGGCCATGTAGACCTCA	0.667000													8	123					0	0	0.016723	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519512	113519512	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:113519512C>G	ENST00000284601.3	-	4	1703	c.1635G>C	c.(1633-1635)atG>atC	p.M545I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	545					glycogen metabolic process	integral to membrane		p.M545I(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TAGGGTTACCCATCTTCCTTT	0.413000													73	59					0	0	0.048971	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117289	46117289	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr21:46117289T>A	ENST00000400365.3	+	1	203	c.173T>A	c.(172-174)gTa>gAa	p.V58E	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	58	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.V58E(2)		large_intestine(1)|lung(8)	9						GTGAGCCGTGTATCCAGCCCC	0.692000													26	152					0	0	0.021523	0	0
MGAM	8972	broad.mit.edu	37	7	141759688	141759688	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:141759688T>C	ENST00000475668.2	+	33	4035	c.3981T>C	c.(3979-3981)ccT>ccC	p.P1327P	MGAM_ENST00000549489.2_Silent_p.P1327P			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1327	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1327P(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACACAGCCTTATCCTGCCT	0.463000													3	35					0	0	0.004672	0	0
NAT10	55226	broad.mit.edu	37	11	34139979	34139979	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:34139979G>T	ENST00000257829.3	+	8	915	c.709G>T	c.(709-711)Gag>Tag	p.E237*	NAT10_ENST00000527971.1_Nonsense_Mutation_p.E237*|NAT10_ENST00000531159.2_Nonsense_Mutation_p.E165*	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	237						nucleolus	ATP binding|N-acetyltransferase activity|protein binding	p.E237*(2)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGAGCTGAGGGAGTTGAAGGA	0.532000													23	36					4.4004e-07	5.16609e-07	0.018920	1	0
ATP8B1	5205	broad.mit.edu	37	18	55359150	55359150	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:55359150G>A	ENST00000536015.1	-	12	1228	c.1109C>T	c.(1108-1110)tCt>tTt	p.S370F	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.S370F	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	370					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S370F(2)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GAGGTACCAAGAGGAATTGCC	0.448000													10	36					0	0	0.006214	0	0
PRDM9	56979	broad.mit.edu	37	5	23517995	23517995	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:23517995C>A	ENST00000296682.3	+	5	489	c.307C>A	c.(307-309)Cct>Act	p.P103T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	103					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.P103T(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TTTAGTCAAACCTCCTTGGAT	0.358000										HNSCC(3;0.000094)			54	213					6.3091e-27	1.08711e-26	0.048971	1	0
COX6B1	1340	broad.mit.edu	37	19	36145541	36145541	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:36145541C>T	ENST00000246554.3	+	3	367	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	COX6B1_ENST00000592141.1_Missense_Mutation_p.R59C|COX6B1_ENST00000392201.1_Missense_Mutation_p.R59C	NM_001863.4	NP_001854.1	P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	59					respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity	p.R76C(2)|p.R59C(2)		lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGGTACCAGCGTGTGTACCA	0.582000													16	107					0	0	0.024245	0	0
OR5B21	219968	broad.mit.edu	37	11	58275002	58275002	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:58275002T>A	ENST00000360374.2	-	1	576	c.577A>T	c.(577-579)Agc>Tgc	p.S193C		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S193C(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACCAACTTGCTGATGCGTGTG	0.463000													12	46					0	0	0.016723	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60015426	60015426	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:60015426G>A	ENST00000586569.1	+	2	139	c.101G>A	c.(100-102)tGt>tAt	p.C34Y	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.C34Y	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	34					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	p.C34Y(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GCTCCTCCATGTACCAGTGAG	0.483000													44	67					0	0	0.042209	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													6	76					0	0	0.029380	0	0
PXDNL	137902	broad.mit.edu	37	8	52287227	52287227	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:52287227C>A	ENST00000356297.4	-	18	3722	c.3622G>T	c.(3622-3624)Ggt>Tgt	p.G1208C	PXDNL_ENST00000543296.1_Missense_Mutation_p.G1208C	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1208					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.G407C(2)|p.G1208C(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACTCTTGTACCAGGAATCAGG	0.478000													11	69					3.86212e-05	4.24909e-05	0.008291	1	0
ALPI	248	broad.mit.edu	37	2	233321921	233321921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:233321921C>A	ENST00000295463.3	+	5	614	c.537C>A	c.(535-537)taC>taA	p.Y179*		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	179					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.Y179*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGGCACCTACGCACACACAG	0.607000													10	105					3.86212e-05	4.24909e-05	0.008291	1	0
DPYSL5	56896	broad.mit.edu	37	2	27150120	27150120	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:27150120G>T	ENST00000288699.6	+	4	578		c.e4-1		DPYSL5_ENST00000401478.1_Splice_Site	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5						axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.?(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTTCTCCAGGTGAAAGCAG	0.577000													16	13					6.72482e-11	8.94513e-11	0.024245	1	0
ZNF667	63934	broad.mit.edu	37	19	56954088	56954088	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:56954088G>T	ENST00000504904.3	-	7	995	c.276C>A	c.(274-276)acC>acA	p.T92T	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Silent_p.T220T|ZNF667_ENST00000292069.6_Silent_p.T92T			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T92T(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTAACTTCTTGGTCTCACATT	0.373000													53	87					5.82388e-19	9.00932e-19	0.048971	1	0
ACSL6	23305	broad.mit.edu	37	5	131323838	131323838	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:131323838C>A	ENST00000379264.2	-	7	842	c.734G>T	c.(733-735)gGc>gTc	p.G245V	ACSL6_ENST00000379272.2_Missense_Mutation_p.G235V|ACSL6_ENST00000379240.1_Missense_Mutation_p.G220V|ACSL6_ENST00000431707.1_Missense_Mutation_p.G200V|ACSL6_ENST00000379249.3_Missense_Mutation_p.G220V|ACSL6_ENST00000379244.1_Missense_Mutation_p.G220V|ACSL6_ENST00000296869.4_Missense_Mutation_p.G245V|ACSL6_ENST00000543479.1_Missense_Mutation_p.G220V|ACSL6_ENST00000357096.1_Missense_Mutation_p.G185V|ACSL6_ENST00000379246.1_Missense_Mutation_p.G231V|ACSL6_ENST00000544770.1_Missense_Mutation_p.G129V|ACSL6_ENST00000379255.1_Missense_Mutation_p.G185V	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	220					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G245F(4)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCTTGAGGCCTGGAGTCTC	0.567000													154	240					7.183e-86	1.51221e-85	0.048971	1	0
DCHS1	8642	broad.mit.edu	37	11	6661905	6661905	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:6661905G>A	ENST00000299441.3	-	2	1351	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	314	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L314L(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTAACTGCAGCAGCCCCGTG	0.617000													16	96					0	0	0.021523	0	0
HOXB8	3218	broad.mit.edu	37	17	46690585	46690585	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:46690585C>A	ENST00000239144.4	-	2	945	c.711G>T	c.(709-711)gcG>gcT	p.A237A	HOXB7_ENST00000567101.1_Intron|HOXB8_ENST00000576562.1_Silent_p.A236A	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	237						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A237A(2)		large_intestine(1)|lung(8)|urinary_tract(2)	11						CGCCCTTCTGCGCGTCGCCCT	0.706000													60	86					2.22609e-26	3.81226e-26	0.048971	1	0
PTK2B	2185	broad.mit.edu	37	8	27312084	27312084	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:27312084G>T	ENST00000397501.1	+	35	3578	c.2770G>T	c.(2770-2772)Gtg>Ttg	p.V924L	PTK2B_ENST00000346049.5_Missense_Mutation_p.V924L|PTK2B_ENST00000544172.1_Missense_Mutation_p.V924L|PTK2B_ENST00000338238.4_Missense_Mutation_p.V882L|PTK2B_ENST00000420218.2_Missense_Mutation_p.V882L|PTK2B_ENST00000517339.1_Missense_Mutation_p.V882L	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	924	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.V924L(4)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CATCGGGAGCGTGGATGATCT	0.587000													11	75					2.80697e-09	3.5009e-09	0.010729	1	0
FLNC	2318	broad.mit.edu	37	7	128487758	128487758	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:128487758G>A	ENST00000325888.8	+	25	4557	c.4296G>A	c.(4294-4296)ccG>ccA	p.P1432P	FLNC_ENST00000346177.6_Silent_p.P1432P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1432					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.P1432P(3)		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						CAGGGAGCCCGTTCCGCGTGC	0.647000													21	125					0	0	0.012319	0	0
EXOC2	55770	broad.mit.edu	37	6	549257	549257	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:549257C>G	ENST00000230449.4	-	22	2291	c.2156G>C	c.(2155-2157)tGc>tCc	p.C719S	EXOC2_ENST00000448181.3_Missense_Mutation_p.C314S	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	719					exocytosis|protein transport			p.C719S(2)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTCTAGATAGCAGCAATTACT	0.373000													52	148					0	0	0.048971	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432400	104432400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:104432400G>A	ENST00000361820.3	-	3	2894	c.2294C>T	c.(2293-2295)gCt>gTt	p.A765V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	765					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CATGACAGCAGCCAAGTTTGC	0.408000													4	68					0	0	0.028581	0	0
ITGAL	3683	broad.mit.edu	37	16	30492758	30492758	+	Splice_Site	SNP	A	A	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:30492758A>G	ENST00000356798.6	+	7	756		c.e7-1		RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_Splice_Site|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Splice_Site	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)						blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.?(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTCCTTTTCTAGTTTGCTGCT	0.338000													19	27					0	0	0.049695	0	0
EPHA1	2041	broad.mit.edu	37	7	143096426	143096426	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:143096426C>A	ENST00000275815.3	-	5	1002	c.916G>T	c.(916-918)Gag>Tag	p.E306*		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	306	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E306*(4)|p.E306K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GTGGCCCCCTCAGACTCAGCA	0.657000													62	37					5.0973e-17	7.63233e-17	0.048971	1	0
DHX29	54505	broad.mit.edu	37	5	54572988	54572988	+	Silent	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:54572988T>C	ENST00000251636.5	-	13	2380	c.2232A>G	c.(2230-2232)acA>acG	p.T744T	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	744	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	p.T744T(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GTGTGAAATATGTAGAAAATT	0.363000													35	107					0	0	0.023175	0	0
OR6K3	391114	broad.mit.edu	37	1	158687606	158687606	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:158687606C>A	ENST00000368146.1	-	1	347	c.348G>T	c.(346-348)caG>caT	p.Q116H	OR6K3_ENST00000368145.1_Missense_Mutation_p.Q100H			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q116H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGAAATACATCTGCAAGATGC	0.483000													39	260					1.69901e-12	2.34925e-12	0.023175	1	0
COL22A1	169044	broad.mit.edu	37	8	139749775	139749775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:139749775C>A	ENST00000303045.6	-	23	2577	c.2131G>T	c.(2131-2133)Ggg>Tgg	p.G711W	COL22A1_ENST00000435777.1_Missense_Mutation_p.G711W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	711	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G711W(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCTGCAGCCCCAGCAATCCA	0.473000										HNSCC(7;0.00092)			6	84					0.0381472	0.0393415	0.038147	1	0
COX6B2	125965	broad.mit.edu	37	19	55865866	55865866	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:55865866C>A	ENST00000593184.1	-	2	103	c.24G>T	c.(22-24)gaG>gaT	p.E8D	CTD-2105E13.6_ENST00000591954.3_3'UTR|COX6B2_ENST00000326529.4_Missense_Mutation_p.E8D|COX6B2_ENST00000590900.1_Missense_Mutation_p.E8D|COX6B2_ENST00000588572.1_Missense_Mutation_p.E8D			Q6YFQ2	CX6B2_HUMAN	cytochrome c oxidase subunit VIb polypeptide 2 (testis)	8						mitochondrial crista|mitochondrial intermembrane space	cytochrome-c oxidase activity	p.E8D(2)		endometrium(1)|kidney(1)|lung(2)|pancreas(1)	5	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCTTGGGGGGCTCCTGGGCTT	0.667000													24	170					4.7796e-09	5.88259e-09	0.024334	1	0
SAA4	6291	broad.mit.edu	37	11	18253967	18253967	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:18253967C>A	ENST00000278222.4	-	3	385	c.205G>T	c.(205-207)Ggt>Tgt	p.G69C	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2			serum amyloid A4, constitutive									p.G69C(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GCCCAGACACCCCCAGGTCCT	0.507000													36	293					5.71845e-15	8.31775e-15	0.023175	1	0
OR2T27	403239	broad.mit.edu	37	1	248813304	248813304	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:248813304G>T	ENST00000344889.3	-	1	881	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N294K(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGACATCCTTGTTCCTAAGGC	0.478000													27	66					5.60225e-13	7.82359e-13	0.041601	1	0
RORB	6096	broad.mit.edu	37	9	77257566	77257566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:77257566G>T	ENST00000376896.2	+	4	1084	c.472G>T	c.(472-474)Gtc>Ttc	p.V158F	RORB_ENST00000396204.2_Missense_Mutation_p.V169F	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	169	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.V158F(2)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TTATTACAACGTCGATTCCGG	0.512000													22	64					1.40151e-16	2.08182e-16	0.055883	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745809	77745809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:77745809G>T	ENST00000409088.3	-	3	1600	c.1186C>A	c.(1186-1188)Caa>Aaa	p.Q396K	LRRTM4_ENST00000409093.1_Missense_Mutation_p.Q396K|LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q396K|LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q397K|LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q397K	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	396						integral to membrane		p.Q396K(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGGTGGATTGGGTGACGTCA	0.493000													5	97					0.000602214	0.00063391	0.014758	1	0
RNASE2	6036	broad.mit.edu	37	14	21424301	21424301	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:21424301G>C	ENST00000304625.2	+	2	461	c.371G>C	c.(370-372)aGg>aCg	p.R124T		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	124					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	p.R124T(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TCAAACTGCAGGTATGCGCAG	0.458000													52	165					0	0	0.048971	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995244	140995244	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:140995244G>A	ENST00000285879.4	+	4	2340	c.2054G>A	c.(2053-2055)gGg>gAg	p.G685E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	685							protein binding	p.G685E(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCTGAGGGGGAGGATTCC	0.577000										HNSCC(15;0.026)			160	130					0	0	0.048971	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077218	19077218	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:19077218G>C	ENST00000329773.2	-	2	819	c.732C>G	c.(730-732)ttC>ttG	p.F244L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	244					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.F244L(2)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ATAATATTAGGAACCACTGAA	0.502000													13	86					0	0	0.016723	0	0
FAT3	120114	broad.mit.edu	37	11	92531657	92531657	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:92531657G>T	ENST00000298047.6	+	9	5495	c.5478G>T	c.(5476-5478)gtG>gtT	p.V1826V	FAT3_ENST00000525166.1_Silent_p.V1676V|FAT3_ENST00000409404.2_Silent_p.V1826V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1826	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1826V(4)		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)				TTTTCACGGTGGACTCCAGTA	0.488000										TCGA Ovarian(4;0.039)			16	31					2.32078e-09	2.90747e-09	0.024245	1	0
SMC3	9126	broad.mit.edu	37	10	112356170	112356170	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:112356170C>T	ENST00000361804.4	+	19	2104	c.1978C>T	c.(1978-1980)Cat>Tat	p.H660Y		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	660	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	p.H660Y(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CCAAGTCAGCCATCGGGGTGC	0.358000													32	112					0	0	0.045705	0	0
PIAS3	10401	broad.mit.edu	37	1	145578690	145578690	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:145578690C>T	ENST00000393045.2	+	3	586	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	PIAS3_ENST00000369299.3_Missense_Mutation_p.P157S|PIAS3_ENST00000369298.1_Missense_Mutation_p.P131S	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	166	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	p.P157S(2)|p.P166S(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCCCTCACACCCCAGCAAGT	0.527000													23	187					0	0	0.016522	0	0
PILRA	29992	broad.mit.edu	37	7	99971855	99971855	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:99971855A>T	ENST00000198536.2	+	2	465	c.253A>T	c.(253-255)Agg>Tgg	p.R85W	PILRA_ENST00000453419.1_Missense_Mutation_p.R85W|PILRA_ENST00000350573.2_Missense_Mutation_p.R85W|PILRA_ENST00000394000.2_Missense_Mutation_p.R85W|PILRA_ENST00000474013.1_3'UTR	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	85	Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	p.R85W(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTACAGCACAAGGCCGCCTTC	0.552000													81	101					0	0	0.048971	0	0
C2CD3	26005	broad.mit.edu	37	11	73768561	73768561	+	Silent	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:73768561C>T	ENST00000334126.7	-	25	5206	c.4980G>A	c.(4978-4980)tcG>tcA	p.S1660S	C2CD3_ENST00000313663.7_Silent_p.S1660S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1660	C2 2.					centrosome		p.S1660S(4)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AACTGGGTATCGATACTTTCC	0.448000													12	96					0	0	0.010729	0	0
RASAL2	9462	broad.mit.edu	37	1	178252789	178252789	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:178252789C>T	ENST00000448150.3	+	2	1057	c.239C>T	c.(238-240)aCa>aTa	p.T80I	RASAL2_ENST00000465723.1_3'UTR|RASAL2_ENST00000367649.3_Missense_Mutation_p.T98I	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.T80L(2)|p.T98L(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGCATCCTCACAGACAGCCAG	0.463000													22	202					0	0	0.024334	0	0
OLFM4	10562	broad.mit.edu	37	13	53624298	53624298	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:53624298C>A	ENST00000219022.2	+	5	1003	c.925C>A	c.(925-927)Ctg>Atg	p.L309M		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	309	Olfactomedin-like.				cell adhesion	extracellular space		p.L309M(2)		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)		GTACAACACACTGGATGATTT	0.433000													42	112					1.59361e-14	2.28826e-14	0.027894	1	0
SH3BP1	23616	broad.mit.edu	37	22	38040934	38040934	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr22:38040934C>A	ENST00000599616.1	+	7	553	c.553C>A	c.(553-555)Ctg>Atg	p.L185M	SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000357436.4_Missense_Mutation_p.L249M|SH3BP1_ENST00000442465.2_Missense_Mutation_p.L249M|SH3BP1_ENST00000336738.5_Missense_Mutation_p.L249M|Z83844.1_ENST00000456099.1_RNA			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	249	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GGACACAGCCCTGGCTGAGCT	0.627000													6	52					0.000274275	0.000290898	0.047766	1	0
ATPAF1	64756	broad.mit.edu	37	1	47131032	47131032	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:47131032C>A	ENST00000576409.1	-	2	402	c.340G>T	c.(340-342)Gac>Tac	p.D114Y	ATPAF1_ENST00000574428.1_Missense_Mutation_p.D91Y|ATPAF1_ENST00000329231.4_Missense_Mutation_p.D114Y|ATPAF1_ENST00000532925.1_Missense_Mutation_p.D3Y|ATPAF1_ENST00000371937.4_Missense_Mutation_p.D91Y|EFCAB14_ENST00000544071.1_Missense_Mutation_p.Q375H|ATPAF1_ENST00000525633.1_5'UTR|ATPAF1_ENST00000542495.1_5'UTR			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	91					protein complex assembly	mitochondrion	protein binding	p.D91Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GCAGCTGGGTCTGACCTGATC	0.463000													7	67					8.12818e-05	8.87287e-05	0.029380	1	0
MUC16	94025	broad.mit.edu	37	19	9069492	9069492	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:9069492C>A	ENST00000397910.4	-	3	18157	c.17954G>T	c.(17953-17955)aGt>aTt	p.S5985I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5987	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S5985I(4)|p.S1618I(2)		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						GCTACTTGCACTTGGTAAGGA	0.478000													26	176					1.38267e-23	2.31133e-23	0.027356	1	0
CECR5	27440	broad.mit.edu	37	22	17630516	17630516	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr22:17630516C>G	ENST00000336737.4	-	2	271	c.246G>C	c.(244-246)cgG>cgC	p.R82R	CECR5_ENST00000480451.1_5'UTR|CECR5_ENST00000155674.5_Silent_p.R52R|CECR5_ENST00000399852.3_Intron	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	82							hydrolase activity	p.R82R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CCACGGGCACCCGCAGCTGCC	0.587000													91	184					0	0	0.048971	0	0
OR8A1	390275	broad.mit.edu	37	11	124440930	124440930	+	Missense_Mutation	SNP	G	G	T	rs145520583		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:124440930G>T	ENST00000284287.3	+	1	1038	c.966G>T	c.(964-966)agG>agT	p.R322S		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R322S(2)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AAACGCTGAGGGGTAAACTGT	0.443000													21	66					5.26018e-13	7.38271e-13	0.012319	1	0
PRKCB	5579	broad.mit.edu	37	16	24166177	24166177	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:24166177T>A	ENST00000303531.7	+	10	1390	c.1239_splice	c.e10+1	p.M413_splice	PRKCB_ENST00000321728.7_Splice_Site_p.M413_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	413	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.M413N(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTCCAGACCATGGTAACTTGT	0.587000													23	21					0	0	0.014323	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33400564	33400564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:33400564C>T	ENST00000418600.2	+	5	591	c.490C>T	c.(490-492)Cga>Tga	p.R164*	SYNGAP1_ENST00000428982.2_Nonsense_Mutation_p.R105*|SYNGAP1_ENST00000293748.5_Nonsense_Mutation_p.R164*|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	164	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	p.R149*(1)|p.R164*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GCCTCGCTTCCGAAGTGCTGA	0.547000													5	77					0	0	0.014758	0	0
IQUB	154865	broad.mit.edu	37	7	123105065	123105065	+	Splice_Site	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:123105065T>A	ENST00000466202.1	-	10	2158		c.e10-2		IQUB_ENST00000434450.1_Splice_Site|IQUB_ENST00000324698.6_Splice_Site			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing									p.?(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTCATGTTCCTATATAAAACA	0.308000													102	74					0	0	0.048971	0	0
FAT2	2196	broad.mit.edu	37	5	150948412	150948412	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:150948412G>T	ENST00000261800.5	-	1	93	c.81C>A	c.(79-81)tcC>tcA	p.S27S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	27					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.S27S(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGAGGAGGAGAGAATCC	0.483000													55	91					9.57592e-29	1.70239e-28	0.048971	1	0
FBXO21	23014	broad.mit.edu	37	12	117604777	117604777	+	Silent	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:117604777T>A	ENST00000427718.2	-	8	1193	c.1119A>T	c.(1117-1119)gcA>gcT	p.A373A	FBXO21_ENST00000330622.5_Silent_p.A373A	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	373					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.A373A(2)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CATACAGTGCTGCAGTCACGT	0.478000													28	120					0	0	0.041601	0	0
S100A7	6278	broad.mit.edu	37	1	153430349	153430349	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:153430349C>A	ENST00000368723.3	-	3	349	c.239G>T	c.(238-240)gGa>gTa	p.G80V	S100A7_ENST00000368722.1_Missense_Mutation_p.G80V	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	80	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	p.G80V(2)		breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTATGTCTCCCAGCAAGGA	0.527000													25	136					1.1804e-14	1.70366e-14	0.021523	1	0
RASAL1	8437	broad.mit.edu	37	12	113553049	113553049	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:113553049G>C	ENST00000546530.1	-	12	1309	c.1024C>G	c.(1024-1026)Cgt>Ggt	p.R342G	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.R342G|RASAL1_ENST00000446861.3_Missense_Mutation_p.R342G|RASAL1_ENST00000261729.5_Missense_Mutation_p.R342G	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	342	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	p.R342G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GAGTTAGAACGGAAGAGGGTG	0.577000													65	148					0	0	0.048971	0	0
XKR7	343702	broad.mit.edu	37	20	30585000	30585000	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr20:30585000G>T	ENST00000217299.3	+	3	1654	c.1480G>T	c.(1480-1482)Ggg>Tgg	p.G494W		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	494						integral to membrane		p.G494W(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAGCGTGCAGGGACCCCCAC	0.692000													9	72					7.48243e-07	8.74772e-07	0.006214	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378427	31378427	+	Silent	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:31378427G>A	ENST00000297142.3	-	2	778	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	152					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.I152I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GTCTCTTGCCGATTCTCAGAA	0.458000													11	215					0	0	0.010729	0	0
LRRC6	23639	broad.mit.edu	37	8	133673737	133673737	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr8:133673737G>T	ENST00000519595.1	-	2	245	c.147C>A	c.(145-147)ctC>ctA	p.L49L	LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Silent_p.L49L|LRRC6_ENST00000250173.1_Silent_p.L49L			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	49						cytoplasm		p.L49L(2)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTTGAAGATAGAGAATTTTTA	0.358000													10	60					2.17888e-05	2.43547e-05	0.006214	1	0
NAALAD2	10003	broad.mit.edu	37	11	89891342	89891342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:89891342G>T	ENST00000534061.1	+	7	1056	c.826G>T	c.(826-828)Gga>Tga	p.G276*	NAALAD2_ENST00000321955.4_Nonsense_Mutation_p.G276*|NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	276	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.G276*(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGTTGAAGAAGGAGTGGGAAT	0.313000													85	185					9.29269e-31	1.69508e-30	0.048971	1	0
OR8B3	390271	broad.mit.edu	37	11	124266919	124266919	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:124266919G>T	ENST00000354597.3	-	1	345	c.329C>A	c.(328-330)tCt>tAt	p.S110Y		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S110Y(2)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GTAACATTCAGAGATGACAAA	0.383000													31	48					2.49534e-26	4.2474e-26	0.045705	1	0
ADCY4	196883	broad.mit.edu	37	14	24802138	24802138	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:24802138G>C	ENST00000310677.4	-	3	329	c.216C>G	c.(214-216)ttC>ttG	p.F72L	ADCY4_ENST00000418030.2_Missense_Mutation_p.F72L|ADCY4_ENST00000554068.2_Missense_Mutation_p.F72L|ADCY4_ENST00000558563.1_5'UTR|RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.L139V|ADCY4_ENST00000396747.3_5'UTR	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	72					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|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	p.F72L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCAGCAGCGAGAAGCCGCCCA	0.672000											OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	44					0	0	0.024245	0	0
IL12RB2	3595	broad.mit.edu	37	1	67833708	67833708	+	Splice_Site	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:67833708G>T	ENST00000262345.1	+	10	2099	c.1459_splice	c.e10+1	p.E487_splice	IL12RB2_ENST00000371000.1_Splice_Site_p.E487_splice|IL12RB2_ENST00000544434.1_Splice_Site_p.E487_splice|IL12RB2_ENST00000541374.1_Splice_Site_p.E487_splice	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	487	Fibronectin type-III 4.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.E487*(2)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TCTGATTTCAGGTACCTAATT	0.502000													20	99					8.34094e-07	9.71086e-07	0.049695	1	0
SLC44A1	23446	broad.mit.edu	37	9	108127811	108127811	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:108127811G>T	ENST00000374720.3	+	11	1548	c.1301G>T	c.(1300-1302)cGc>cTc	p.R434L	SLC44A1_ENST00000343170.7_Missense_Mutation_p.R226L|SLC44A1_ENST00000374723.1_Missense_Mutation_p.R434L|SLC44A1_ENST00000374724.1_Missense_Mutation_p.R434L	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	434						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.R434L(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TCAGTAAATCGCCTTATTCGT	0.363000													16	88					6.31663e-08	7.5908e-08	0.024245	1	0
MOXD1	26002	broad.mit.edu	37	6	132649636	132649636	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:132649636C>T	ENST00000367963.3	-	5	879	c.761G>A	c.(760-762)gGc>gAc	p.G254D	MOXD1_ENST00000336749.3_Missense_Mutation_p.G186D	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	254					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.G186D(2)|p.G254D(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GCACTCGTGGCCGGACTCCAG	0.517000													27	65					0	0	0.024334	0	0
MROH8	140699	broad.mit.edu	37	20	35737029	35737029	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr20:35737029T>C	ENST00000400441.3	-	23	2952	c.2953A>G	c.(2953-2955)Agg>Ggg	p.R985G	MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000217333.8_Missense_Mutation_p.R814G|MROH8_ENST00000466091.1_5'UTR					maestro heat-like repeat family member 8									p.R985G(2)									GTACCCATCCTCCTGAGCTCA	0.453000													3	10					0	0	0.009096	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883304	19883304	+	Silent	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:19883304G>T	ENST00000300571.2	-	2	1055	c.864C>A	c.(862-864)gcC>gcA	p.A288A	GPRC5B_ENST00000535671.1_Silent_p.A288A|GPRC5B_ENST00000537135.1_Silent_p.A314A|GPRC5B_ENST00000569479.1_Silent_p.A288A|GPRC5B_ENST00000569847.1_Silent_p.A288A	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	288								p.A288A(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCTCAGGGATGGCGTGGAAGA	0.637000													39	40					6.19805e-25	1.04545e-24	0.023175	1	0
OR51B5	282763	broad.mit.edu	37	11	5364170	5364170	+	Silent	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:5364170C>G	ENST00000300773.2	-	1	639	c.585G>C	c.(583-585)ctG>ctC	p.L195L	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L195L(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCTGGGTACAGTCGGTTGA	0.423000													71	121					0	0	0.048971	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338093	151338093	+	Silent	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:151338093C>A	ENST00000426705.2	-	9	1260	c.1116G>T	c.(1114-1116)ggG>ggT	p.G372G	SELENBP1_ENST00000368868.5_Silent_p.G330G|SELENBP1_ENST00000447402.3_Silent_p.G268G|SELENBP1_ENST00000435071.1_Silent_p.G266G	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	330					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	p.G330G(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCAGGTCCCCATGCAGCC	0.592000													158	210					8.174e-68	1.69535e-67	0.048971	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47422455	47422455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:47422455G>T	ENST00000404338.3	+	1	523	c.523G>T	c.(523-525)Gat>Tat	p.D175Y		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	175					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.D175Y(4)									TAGGAACTTTGATGACCAGCT	0.453000													10	74					0.000442599	0.000468536	0.006214	1	0
CCDC89	220388	broad.mit.edu	37	11	85396473	85396473	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:85396473T>A	ENST00000316398.3	-	1	847	c.701A>T	c.(700-702)cAg>cTg	p.Q234L		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	234						cytoplasm|nucleus		p.Q234L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTTGAGGGTCTGCAGCTGGCT	0.647000													19	101					0	0	0.021523	0	0
INHBB	3625	broad.mit.edu	37	2	121107308	121107308	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:121107308G>T	ENST00000295228.3	+	2	1128	c.1082G>T	c.(1081-1083)cGg>cTg	p.R361L		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	361					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	p.R361L(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TACCGCATGCGGGGTCTGAAC	0.607000													35	75					3.86903e-22	6.26201e-22	0.054565	1	0
TRIML1	339976	broad.mit.edu	37	4	189068316	189068316	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:189068316C>A	ENST00000332517.3	+	6	1337	c.1197C>A	c.(1195-1197)caC>caA	p.H399Q	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	399	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.H399Q(3)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGGTCAGCACGTCAGAGAGC	0.488000													74	161					2.51111e-31	4.61055e-31	0.048971	1	0
TLCD1	116238	broad.mit.edu	37	17	27051724	27051724	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:27051724C>A	ENST00000292090.3	-	4	658	c.548G>T	c.(547-549)cGc>cTc	p.R183L	TLCD1_ENST00000394933.3_Missense_Mutation_p.R136L	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	183	TLC.					integral to membrane		p.R183L(2)		breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					AGGGGCCAGGCGGAAGAGAAA	0.517000													35	181					4.3181e-19	6.73575e-19	0.054565	1	0
CASC3	22794	broad.mit.edu	37	17	38318060	38318060	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:38318060G>A	ENST00000264645.7	+	4	578	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	118					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	p.E118K(2)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCTGAAATCAGAAGCTAATGA	0.438000													44	84					0	0	0.036044	0	0
HDAC9	9734	broad.mit.edu	37	7	18688221	18688221	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:18688221C>G	ENST00000406451.3	+	11	1523	c.1373C>G	c.(1372-1374)aCg>aGg	p.T458R	HDAC9_ENST00000428307.2_Missense_Mutation_p.T414R|HDAC9_ENST00000417496.2_Missense_Mutation_p.T456R|HDAC9_ENST00000406072.1_Missense_Mutation_p.T445R|HDAC9_ENST00000401921.1_Missense_Mutation_p.T417R|HDAC9_ENST00000441542.2_Missense_Mutation_p.T461R|HDAC9_ENST00000405010.3_Missense_Mutation_p.T458R|HDAC9_ENST00000432645.2_Missense_Mutation_p.T458R|HDAC9_ENST00000524023.1_Missense_Mutation_p.T381R|HDAC9_ENST00000456174.2_Missense_Mutation_p.T430R	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	458					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.T461R(4)|p.T456R(2)|p.T458R(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTCAGAGCACGTTGGCTCAG	0.507000													58	139					0	0	0.048971	0	0
SUN1	23353	broad.mit.edu	37	7	912908	912908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:912908G>A	ENST00000456758.2	+	25	2865	c.2865G>A	c.(2863-2865)tgG>tgA	p.W955*	SUN1_ENST00000452783.2_Nonsense_Mutation_p.W663*|SUN1_ENST00000401592.1_Nonsense_Mutation_p.W766*|SUN1_ENST00000425407.2_Nonsense_Mutation_p.W683*|SUN1_ENST00000405266.1_Nonsense_Mutation_p.W803*|SUN1_ENST00000413514.2_Nonsense_Mutation_p.W564*|SUN1_ENST00000389574.3_Nonsense_Mutation_p.W683*			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	793					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	p.W766*(2)|p.W683*(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCTAACTGGGGCCATCCTG	0.388000											OREG0017816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	143	438					0	0	0.048971	0	0
FBN3	84467	broad.mit.edu	37	19	8183790	8183790	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:8183790C>G	ENST00000600128.1	-	26	3742	c.3328G>C	c.(3328-3330)Gcc>Ccc	p.A1110P	FBN3_ENST00000601739.1_Missense_Mutation_p.A1110P|FBN3_ENST00000270509.2_Missense_Mutation_p.A1110P			Q75N90	FBN3_HUMAN	fibrillin 3	1110	EGF-like 14; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.A1110P(2)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCTCACAGGCAGTGCCCTTG	0.587000													16	112					0	0	0.038395	0	0
SF3B1	23451	broad.mit.edu	37	2	198266709	198266709	+	Splice_Site	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:198266709C>G	ENST00000335508.5	-	15	2314	c.2223_splice	c.e15+1	p.K741_splice		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	741					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.K741N(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTGGATTTACCTTTCCTCTGT	0.343000			Mis		myelodysplastic syndrome								25	41					0	0	0.024334	0	0
MYH8	4626	broad.mit.edu	37	17	10322326	10322326	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:10322326G>T	ENST00000403437.2	-	4	326	c.232C>A	c.(232-234)Caa>Aaa	p.Q78K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	78	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.Q78K(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGGAAGACTTGGTCTTCCCTG	0.448000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				20	58					8.34094e-07	9.71086e-07	0.049695	1	0
AKR7L	246181	broad.mit.edu	37	1	19595787	19595787	+	RNA	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:19595787C>G	ENST00000420396.2	-	0	507				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GATCTCTGCCCACTGAGTCCC	0.587000													6	63					0	0	0.021553	0	0
GPR116	221395	broad.mit.edu	37	6	46826786	46826786	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:46826786T>C	ENST00000283296.7	-	17	3142	c.2854A>G	c.(2854-2856)Acg>Gcg	p.T952A	GPR116_ENST00000545669.1_Missense_Mutation_p.T381A|GPR116_ENST00000456426.2_Missense_Mutation_p.T810A|GPR116_ENST00000362015.4_Missense_Mutation_p.T952A|GPR116_ENST00000265417.7_Missense_Mutation_p.T952A	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	952	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T952A(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ACACACTTCGTTTCGCCGCCT	0.488000													36	130					0	0	0.019004	0	0
NEK10	152110	broad.mit.edu	37	3	27329206	27329206	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:27329206T>A	ENST00000429845.2	-	21	2134	c.1772A>T	c.(1771-1773)tAc>tTc	p.Y591F	NEK10_ENST00000341435.5_Missense_Mutation_p.Y591F|NEK10_ENST00000357467.2_5'UTR			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	591	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Y591F(3)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAATGTTTTGTAATAACGTAC	0.264000													4	40					0	0	0.021553	0	0
MGAM	8972	broad.mit.edu	37	7	141755521	141755521	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:141755521C>A	ENST00000475668.2	+	28	3532	c.3478C>A	c.(3478-3480)Cca>Aca	p.P1160T	MGAM_ENST00000549489.2_Missense_Mutation_p.P1160T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1160	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1160T(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACCAGCCCCCAGGGGTAAG	0.547000													51	57					5.13769e-22	8.29137e-22	0.048971	1	0
PPIG	9360	broad.mit.edu	37	2	170493475	170493475	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr2:170493475G>T	ENST00000260970.3	+	14	1927	c.1707G>T	c.(1705-1707)agG>agT	p.R569S	PPIG_ENST00000448752.2_Missense_Mutation_p.R569S|PPIG_ENST00000409714.3_Missense_Mutation_p.R554S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	569	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R569T(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GCAGAAGTAGGGACAGAAGCA	0.438000													8	55					0.000274275	0.000290898	0.047766	1	0
KRT28	162605	broad.mit.edu	37	17	38950232	38950232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:38950232G>A	ENST00000306658.7	-	6	1110	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	349	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.Q349*(2)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				ATCTGAGCCTGGATCTGCGCC	0.582000													149	167					0	0	0.048971	0	0
FBN2	2201	broad.mit.edu	37	5	127686687	127686687	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:127686687C>A	ENST00000508053.1	-	27	3659	c.2685G>T	c.(2683-2685)aaG>aaT	p.K895N	FBN2_ENST00000262464.4_Missense_Mutation_p.K895N|FBN2_ENST00000508989.1_Missense_Mutation_p.K862N			P35556	FBN2_HUMAN	fibrillin 2	895					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.K895N(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AACAGGTCCCCTTCAGGCTGT	0.493000													50	62					4.01344e-20	6.33106e-20	0.048971	1	0
HUS1B	135458	broad.mit.edu	37	6	656317	656317	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:656317G>A	ENST00000380907.2	-	1	646	c.628C>T	c.(628-630)Cct>Tct	p.P210S	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	210								p.P210S(2)		endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GACTGGGGAGGGTTTCCAAGA	0.517000													73	251					0	0	0.048971	0	0
CYP2A6	1548	broad.mit.edu	37	19	41351932	41351932	+	Missense_Mutation	SNP	C	C	G	rs60823196		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:41351932C>G	ENST00000301141.5	-	6	922	c.902G>C	c.(901-903)gGg>gCg	p.G301A	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	301					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CTCGGTGCCCCCAATGAAGAG	0.582000													4	108					0	0	0.014758	0	0
MYH6	4624	broad.mit.edu	37	14	23863047	23863047	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:23863047G>A	ENST00000405093.3	-	22	2826	c.2756C>T	c.(2755-2757)gCc>gTc	p.A919V	MYH6_ENST00000356287.3_Missense_Mutation_p.A919V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	919					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.A919V(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTTACTTTGGCCTCCAGCTG	0.527000													40	118					0	0	0.027894	0	0
ATPIF1	93974	broad.mit.edu	37	1	28564412	28564412	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:28564412A>C	ENST00000335514.5	+	3	295	c.244A>C	c.(244-246)Aag>Cag	p.K82Q	ATPIF1_ENST00000497986.1_3'UTR|ATPIF1_ENST00000465645.1_3'UTR|ATPIF1_ENST00000468425.2_Intron	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	82					angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity	p.K82Q(2)		lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CGTTCATCATAAGAAGGAGAT	0.408000													28	49					0	0	0.024334	0	0
ACE2	59272	broad.mit.edu	37	X	15607507	15607507	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:15607507C>G	ENST00000427411.1	-	6	872	c.656G>C	c.(655-657)cGc>cCc	p.R219P	ACE2_ENST00000252519.3_Missense_Mutation_p.R219P	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	219					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	p.R219P(2)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CAACTGGCCGCGGCTGTAGTC	0.423000													47	183					0	0	0.048971	0	0
ZNF702P	79986	broad.mit.edu	37	19	53472546	53472546	+	RNA	SNP	C	C	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:53472546C>T	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							CTTCATTATGCATTCTCCAAT	0.358000													7	6					0	0	0.038147	0	0
ADH7	131	broad.mit.edu	37	4	100340162	100340162	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:100340162C>A	ENST00000437033.2	-	7	1445	c.942G>T	c.(940-942)tgG>tgT	p.W314C	ADH7_ENST00000482593.1_Missense_Mutation_p.W257C|ADH7_ENST00000476959.1_Missense_Mutation_p.W334C|ADH7_ENST00000209665.4_Missense_Mutation_p.W326C			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	326					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	p.W326C(2)|p.W334C(2)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CACATCCCTTCCATGTGCGTC	0.537000													38	122					5.71845e-15	8.31775e-15	0.023175	1	0
VPS13D	55187	broad.mit.edu	37	1	12343652	12343653	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:12343652_12343653insT	ENST00000358136.3	+	21	5623_5624	c.5493_5494insT	c.(5491-5496)gattttfs	p.DF1831fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.DF1831fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1831					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGATATTAGACTTTTTTGGAAT	0.470													8	1217	---	---	---	---					
NBPF1	55672	broad.mit.edu	37	1	16901653	16901654	+	Splice_Site	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:16901653_16901654insG	ENST00000430580.2	-	20	3077_3078	c.2192_splice	c.e20+1	p.PG730_splice	NBPF1_ENST00000432949.1_Splice_Site_p.PG188_splice|NBPF1_ENST00000287968.8_Splice_Site_p.PG95_splice	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	730	NBPF 3.					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)		CAGTGTTACCTGGGGGCAGACG	0.431													7	1850	---	---	---	---					
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)cacfs	p.H937fs	LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTATTCGAGTTGGGGGGTCTTC	0.495													14	913	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1847					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	p.G1848fs*6(3)	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)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								9	330	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													19	707	---	---	---	---					
KHDRBS1	10657	broad.mit.edu	37	1	32503458	32503459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:32503458_32503459insG	ENST00000327300.7	+	6	1095_1096	c.928_929insG	c.(928-930)gggfs	p.G310fs	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	310	Arg/Gly-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGACCACCTCGGGGGGCTTTG	0.500													11	336	---	---	---	---					
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:32673442_32673443insG	ENST00000537469.1	+	5	1447_1448	c.1400_1401insG	c.(1399-1401)tggfs	p.W467fs	IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.550													7	115	---	---	---	---					
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)aaafs	p.K304fs	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411													7	473	---	---	---	---					
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:44878032_44878033insC	ENST00000355387.2	+	2	713_714	c.263_264insC	c.(262-264)tccfs	p.S88fs	RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	88					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AATCGTGATTTCCCCCCTTCTC	0.515													12	928	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													21	339	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000371212.1_Intron	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													26	387	---	---	---	---					
CACHD1	57685	broad.mit.edu	37	1	65157116	65157117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:65157116_65157117insC	ENST00000371073.2	+	27	3697_3698	c.3697_3698insC	c.(3697-3699)cccfs	p.P1233fs	CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1182fs|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1233					calcium ion transport	integral to membrane		p.Q1185fs*23(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACCTGGATACCCCCCCTCAG	0.554													10	314	---	---	---	---					
C1orf173	127254	broad.mit.edu	37	1	75039097	75039098	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:75039097_75039098insT	ENST00000326665.5	-	14	2514_2515	c.2296_2297insA	c.(2296-2298)gtafs	p.V766fs	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	766	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAGTGTATACGTTTTTTGCACC	0.441													9	629	---	---	---	---					
ASB17	127247	broad.mit.edu	37	1	76384701	76384701	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:76384701delG	ENST00000284142.6	-	3	963	c.824delC	c.(823-825)cafs	p.P275fs		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	275	SOCS box.				intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TATTCCATCTGGGAGCATATT	0.338													36	382	---	---	---	---					
GBP1	2633	broad.mit.edu	37	1	89520516	89520517	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:89520516_89520517insT	ENST00000370473.4	-	10	1732_1733	c.1513_1514insA	c.(1513-1515)gttfs	p.V505fs	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	505					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TTCCTGCAACATTTTTGCTGAA	0.436													7	1999	---	---	---	---					
LRRC8C	84230	broad.mit.edu	37	1	90179646	90179647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:90179646_90179647insC	ENST00000370454.4	+	3	1772_1773	c.1517_1518insC	c.(1516-1518)cccfs	p.P506fs	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	506						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATGAGGGAACTCCCCCCCTGGA	0.500													9	168	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													37	544	---	---	---	---					
ABCA4	24	broad.mit.edu	37	1	94466663	94466664	+	Splice_Site	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:94466663_94466664insG	ENST00000370225.3	-	46	6369		c.e46-2		ABCA4_ENST00000536513.1_Splice_Site|ABCA4_ENST00000535881.1_Splice_Site	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4						phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGCTCATCCTGGGGGGTGGAG	0.629													8	259	---	---	---	---					
COL11A1	1301	broad.mit.edu	37	1	103404607	103404607	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:103404607delC	ENST00000358392.2	-	44	3775	c.3458delG	c.(3457-3459)gtfs	p.G1153fs	COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G1102fs|COL11A1_ENST00000370096.3_Frame_Shift_Del_p.G1141fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G1025fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1141	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)		TCCCTTGTCACCCTTGCTGCC	0.338													45	464	---	---	---	---					
CLCC1	23155	broad.mit.edu	37	1	109479967	109479968	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:109479967_109479968insG	ENST00000369971.2	-	10	1243_1244	c.1114_1115insC	c.(1114-1116)ggcfs	p.G372fs	CLCC1_ENST00000369970.3_Frame_Shift_Ins_p.G322fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000415331.1_Frame_Shift_Ins_p.G322fs|CLCC1_ENST00000356970.2_Frame_Shift_Ins_p.G372fs|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000348264.2_Frame_Shift_Ins_p.G187fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000302500.4_Frame_Shift_Ins_p.G251fs|CLCC1_ENST00000369969.2_Frame_Shift_Ins_p.G251fs|CLCC1_ENST00000369968.2_Frame_Shift_Ins_p.G187fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	372						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CCGAAGTGCCTGGGGAGGTTCG	0.490													7	603	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													52	835	---	---	---	---					
PHTF1	10745	broad.mit.edu	37	1	114248545	114248546	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:114248545_114248546insA	ENST00000369604.1	-	13	2120_2121	c.1637_1638insT	c.(1636-1638)tatfs	p.Y546fs	PHTF1_ENST00000393357.2_Frame_Shift_Ins_p.Y546fs|PHTF1_ENST00000357783.2_Frame_Shift_Ins_p.Y546fs|PHTF1_ENST00000369596.2_Frame_Shift_Ins_p.Y493fs|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Frame_Shift_Ins_p.Y493fs|PHTF1_ENST00000369598.1_Frame_Shift_Ins_p.Y501fs			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	546						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACACATCATGAAAAAAAACAT	0.327													7	317	---	---	---	---					
HIPK1	204851	broad.mit.edu	37	1	114515697	114515698	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:114515697_114515698insC	ENST00000369558.1	+	16	3428_3429	c.3196_3197insC	c.(3196-3198)cccfs	p.P1066fs	HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.P1032fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.P1066fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.P692fs|HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.P672fs|HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.P672fs|HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.P1021fs|HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.P1021fs			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1066	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCAACCCAGCCCCCCGCAGG	0.614													7	274	---	---	---	---					
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:114523958_114523959insC	ENST00000369551.1	+	4	1016_1017	c.728_729insC	c.(727-729)accfs	p.T243fs	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559													8	339	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													14	515	---	---	---	---					
C1orf51	148523	broad.mit.edu	37	1	150259011	150259012	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:150259011_150259012insC	ENST00000290363.5	+	5	1252_1253	c.803_804insC	c.(802-804)accfs	p.T268fs	C1orf51_ENST00000369095.1_Frame_Shift_Ins_p.T268fs|C1orf51_ENST00000369094.1_Frame_Shift_Ins_p.T180fs	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	268										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAATTTGCAACCCCCCTCTCA	0.520													7	700	---	---	---	---					
RPRD2	23248	broad.mit.edu	37	1	150445611	150445612	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:150445611_150445612insC	ENST00000401000.4	+	10	4174_4175	c.4109_4110insC	c.(4108-4110)gccfs	p.A1370fs	RPRD2_ENST00000369068.4_Frame_Shift_Ins_p.A1396fs|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1396	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGCAGCAGTGGCCCCCCCTTGG	0.614													9	125	---	---	---	---					
TARS2	80222	broad.mit.edu	37	1	150477198	150477199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:150477198_150477199insG	ENST00000369064.3	+	15	1843_1844	c.1809_1810insG	c.(1807-1812)tgggggfs	p.WG603fs	TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	603					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.C603C(2)|p.G604W(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAAGCTGCGGGGGGAAATG	0.569													10	378	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554													12	287	---	---	---	---					
KPRP	448834	broad.mit.edu	37	1	152732677	152732678	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:152732677_152732678insC	ENST00000368773.1	+	2	671_672	c.613_614insC	c.(613-615)cccfs	p.P205fs	KPRP_ENST00000606109.1_Frame_Shift_Ins_p.P205fs	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	205	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAACAACTACACCCCCCAGTTC	0.574													12	562	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(421-426)ttggggfs	p.LG141fs	HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	141	Involved in HCLS1 binding.		F -> L (in SCN3; mild form).			actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome				8	244	---	---	---	---					
PRCC	5546	broad.mit.edu	37	1	156761535	156761536	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:156761535_156761536insC	ENST00000271526.4	+	4	1402_1403	c.1130_1131insC	c.(1129-1131)gccfs	p.A377fs	PRCC_ENST00000353233.3_Intron|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	377					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	p.Q380fs*12(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGGCCCTGGTCCCCCCCCAGG	0.530			T	TFE3	papillary renal								11	236	---	---	---	---					
KIRREL	55243	broad.mit.edu	37	1	158058202	158058203	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:158058202_158058203insC	ENST00000368172.1	+	4	408_409	c.396_397insC	c.(394-399)aaccccfs	p.NP132fs	KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.NP234fs|KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000359209.6_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.NP170fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.NP231fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	334	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGTTGGGAATCCCCCCCTCAC	0.455													7	295	---	---	---	---					
KCNJ10	3766	broad.mit.edu	37	1	160012017	160012018	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:160012017_160012018insG	ENST00000368089.3	-	2	531_532	c.305_306insC	c.(304-306)cgcfs	p.R102fs	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	102						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTGGTTGGCCGGGGGGTCCAG	0.584													9	522	---	---	---	---					
RCSD1	92241	broad.mit.edu	37	1	167654710	167654711	+	Frame_Shift_Ins	INS	-	-	C	rs144007158	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:167654710_167654711insC	ENST00000367854.3	+	3	492_493	c.161_162insC	c.(160-162)tccfs	p.S54fs	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	54										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTCCCCCTGTTCCCCCCCAAGG	0.554													10	171	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1224)cggfs	p.R408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L408fs*49(2)|p.L408L(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTTGCTCCTGGGGGGAGACA	0.574													8	610	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5049)accfs	p.T1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.470													31	780	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181549749	181549750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:181549749_181549750insC	ENST00000526775.1	+	6	953_954	c.788_789insC	c.(787-789)gccfs	p.A263fs	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000367573.2_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A263fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	263					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGATTTGACCCCCCTCACC	0.505													17	1138	---	---	---	---					
ARPC5	10092	broad.mit.edu	37	1	183602244	183602245	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:183602244_183602245insG	ENST00000359856.6	-	2	254_255	c.188_189insC	c.(187-189)catfs	p.H63fs	ARPC5_ENST00000294742.6_Frame_Shift_Ins_p.H66fs|ARPC5_ENST00000462965.1_5'UTR|ARPC5_ENST00000367534.1_Frame_Shift_Ins_p.H63fs	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	63					actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton			cervix(1)|large_intestine(1)|lung(2)	4						TGGTGTTGATAGGGGGGTTCTT	0.465													7	295	---	---	---	---					
COLGALT2	23127	broad.mit.edu	37	1	183938467	183938468	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:183938467_183938468insG	ENST00000361927.4	-	5	1138_1139	c.767_768insC	c.(766-768)ccafs	p.P256fs	COLGALT2_ENST00000546159.1_Frame_Shift_Ins_p.P256fs	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		AGTCCTGGTGTGGGGGGTAGAA	0.535													7	500	---	---	---	---					
HMCN1	83872	broad.mit.edu	37	1	185956655	185956656	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:185956655_185956656insC	ENST00000271588.4	+	20	3256_3257	c.3027_3028insC	c.(3025-3030)aacgtcfs	p.V1010fs	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.V1010fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1010	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAATCCCAAACCGTCTGTCAT	0.436													198	366	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4501-4506)gaccccfs	p.DP1501fs	NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1501					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						TGGATGCAGAGCCCCCCGAGAT	0.525													8	410	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													23	475	---	---	---	---					
PLXNA2	5362	broad.mit.edu	37	1	208315786	208315787	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:208315786_208315787insG	ENST00000367033.3	-	4	2150_2151	c.1393_1394insC	c.(1393-1395)tggfs	p.W465fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	465	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.H465fs*57(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCCCACCATGGGGGGGACCG	0.594													13	617	---	---	---	---					
PROX1	5629	broad.mit.edu	37	1	214170285	214170286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:214170285_214170286insC	ENST00000366958.4	+	2	1015_1016	c.407_408insC	c.(406-408)accfs	p.T136fs	PROX1_ENST00000498508.2_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000261454.4_Frame_Shift_Ins_p.T136fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	136					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCAAGAGACAGCCCCCCAGAGT	0.530													7	448	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)aagfs	p.K150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.490													9	881	---	---	---	---					
TARBP1	6894	broad.mit.edu	37	1	234556531	234556532	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:234556531_234556532insT	ENST00000040877.1	-	21	3470_3471	c.3471_3472insA	c.(3469-3474)aagctafs	p.L1158fs		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1158					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACATAGTAGCGTTTTTTGGACT	0.366													8	721	---	---	---	---					
ASAP2	8853	broad.mit.edu	37	2	9463277	9463278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:9463277_9463278insC	ENST00000281419.3	+	6	838_839	c.498_499insC	c.(496-501)gaacgcfs	p.ER166fs	ASAP2_ENST00000315273.4_Frame_Shift_Ins_p.ER166fs	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	166					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AGAAAAAGGAACACGCCAAGCT	0.495													15	281	---	---	---	---					
RASGRP3	25780	broad.mit.edu	37	2	33749069	33749070	+	Frame_Shift_Ins	INS	-	-	C	rs35406835		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:33749069_33749070insC	ENST00000403687.3	+	8	1380_1381	c.640_641insC	c.(640-642)cccfs	p.P214fs	RASGRP3_ENST00000402538.3_Frame_Shift_Ins_p.P214fs|RASGRP3_ENST00000407811.1_Frame_Shift_Ins_p.P214fs	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	214	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TAGCAAACCAACCCCCCAGCAA	0.431													11	955	---	---	---	---					
SLC8A1	6546	broad.mit.edu	37	2	40366704	40366705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:40366704_40366705insG	ENST00000406785.1	-	7	2462_2463	c.2273_2274insC	c.(2272-2274)cacfs	p.H758fs	SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	794					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTATTCAGTAGGGGGGACGAA	0.515													8	496	---	---	---	---					
MSH6	2956	broad.mit.edu	37	2	48030796	48030797	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:48030796_48030797insG	ENST00000234420.4	+	5	3562_3563	c.3410_3411insG	c.(3409-3411)aggfs	p.R1137fs	MSH6_ENST00000540021.1_Frame_Shift_Ins_p.R1007fs|MSH6_ENST00000538136.1_Frame_Shift_Ins_p.R835fs|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1137					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGACCAAATATGGGGGGCAAGT	0.376			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	695	---	---	---	---					
LHCGR	3973	broad.mit.edu	37	2	48915172	48915172	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:48915172delA	ENST00000294954.7	-	11	1785	c.1764delT	c.(1762-1764)ttfs	p.F588fs	LHCGR_ENST00000405626.1_Frame_Shift_Del_p.F561fs|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Frame_Shift_Del_p.F526fs|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	588					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CTGAGATGGCAAAAAAAGAGA	0.383													7	543	---	---	---	---					
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)cccfs	p.P442fs		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma				9	426	---	---	---	---					
USP39	10713	broad.mit.edu	37	2	85866422	85866423	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:85866422_85866423insC	ENST00000323701.6	+	9	1202_1203	c.1192_1193insC	c.(1192-1194)cccfs	p.P398fs	USP39_ENST00000409470.1_Frame_Shift_Ins_p.P398fs|USP39_ENST00000409766.3_Frame_Shift_Ins_p.P398fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.P398fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Frame_Shift_Ins_p.P295fs	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	398					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCTTCCTACTGCCCCCCTCTAC	0.505													8	325	---	---	---	---					
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	RNA	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1																						AAAATAAATTTCCCCCCAGAAC	0.455													12	536	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89083951	89083951	+	RNA	DEL	A	A	-	rs111608027		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:89083951delA	ENST00000393525.3	+	0	576																											CTTTTTTTTCAGTGTATTTCT	0.348													2	4	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128707524	128707525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:128707524_128707525insG	ENST00000357702.5	-	18	2924_2925	c.2793_2794insC	c.(2791-2796)ccttacfs	p.Y932fs	SAP130_ENST00000259234.6_Frame_Shift_Ins_p.Y905fs|SAP130_ENST00000259235.3_Frame_Shift_Ins_p.Y897fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	897	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGCAAAGTAATGGGGGGTCTTG	0.460													8	1160	---	---	---	---					
CSRNP3	80034	broad.mit.edu	37	2	166532949	166532950	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:166532949_166532950insA	ENST00000314499.7	+	6	912_913	c.536_537insA	c.(535-537)aaafs	p.K179fs	CSRNP3_ENST00000342316.4_Frame_Shift_Ins_p.K179fs|CSRNP3_ENST00000409420.1_Frame_Shift_Ins_p.K211fs	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	179					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CCTTTGCCAACAAAAAAACGAA	0.480													8	823	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421													18	369	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													9	111	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													15	817	---	---	---	---					
ALS2	57679	broad.mit.edu	37	2	202588159	202588160	+	Frame_Shift_Ins	INS	-	-	C	rs41309046		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:202588159_202588160insC	ENST00000264276.6	-	22	3889_3890	c.3517_3518insG	c.(3517-3519)aaafs	p.K1173fs	ALS2_ENST00000457679.2_Frame_Shift_Ins_p.K485fs	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1173					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CATATACTTTTCCCCCCTGCAC	0.406													9	460	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2334)cccfs	p.P778fs	ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455													8	168	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													14	314	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													17	250	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	55	---	---	---	---					
KCNH8	131096	broad.mit.edu	37	3	19479713	19479714	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:19479713_19479714insG	ENST00000328405.2	+	8	1501_1502	c.1235_1236insG	c.(1234-1236)tggfs	p.W412fs	KCNH8_ENST00000537696.1_Frame_Shift_Ins_p.W53fs	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	412						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AACAATACCTTGGGGGGCCCGT	0.480													7	650	---	---	---	---					
KCNH8	131096	broad.mit.edu	37	3	19554727	19554728	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:19554727_19554728insC	ENST00000328405.2	+	13	2611_2612	c.2345_2346insC	c.(2344-2346)gccfs	p.A782fs		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	782						integral to membrane	two-component sensor activity	p.N785fs*3(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGGAAATTGACCCCCCCAACC	0.470													9	122	---	---	---	---					
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)cccfs	p.P495fs	MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.470		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				13	860	---	---	---	---					
SFMBT1	51460	broad.mit.edu	37	3	52962211	52962212	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:52962211_52962212insG	ENST00000394752.3	-	9	1425_1426	c.1043_1044insC	c.(1042-1044)cccfs	p.P348fs	SFMBT1_ENST00000394750.1_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000358080.2_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000296295.6_Frame_Shift_Ins_p.P348fs	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	348					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GTGCACCTGGAGGGGGGCTGAT	0.530													11	709	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													9	350	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:87018182_87018183insC	ENST00000398399.2	-	3	857_858	c.494_495insG	c.(493-495)ggtfs	p.G165fs	VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGGATGAACTCCCCCCAAACA	0.579													8	351	---	---	---	---					
OR5H1	26341	broad.mit.edu	37	3	97851841	97851842	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:97851841_97851842insT	ENST00000354565.2	+	1	300_301	c.300_301insT	c.(298-303)cattttfs	p.HF100fs	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GCAAGATACAGTTTTTTTCGTT	0.396													10	1271	---	---	---	---					
MORC1	27136	broad.mit.edu	37	3	108819313	108819314	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:108819313_108819314insT	ENST00000232603.5	-	5	346_347	c.264_265insA	c.(262-267)aaggctfs	p.A89fs	MORC1_ENST00000483760.1_Frame_Shift_Ins_p.A89fs	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	89					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.R89W(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTTGACAGCCGTTTTTTGGATC	0.406													9	1146	---	---	---	---					
IGSF11	152404	broad.mit.edu	37	3	118647520	118647521	+	Frame_Shift_Ins	INS	-	-	G	rs145433873	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:118647520_118647521insG	ENST00000354673.2	-	5	636_637	c.256_257insC	c.(256-258)gttfs	p.V86fs	IGSF11_ENST00000393775.2_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000491903.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000459718.1_5'UTR	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	87	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCGTGGAACCGGGGGGCACCA	0.465													7	616	---	---	---	---					
PDIA5	10954	broad.mit.edu	37	3	122869088	122869089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:122869088_122869089insC	ENST00000316218.7	+	14	1245_1246	c.1150_1151insC	c.(1150-1152)cccfs	p.P384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2.|Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGCCCTGAGGCCCCCCCGCCC	0.604													10	262	---	---	---	---					
PIK3CB	5291	broad.mit.edu	37	3	138413709	138413710	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:138413709_138413710insG	ENST00000477593.1	-	13	1883_1884	c.1810_1811insC	c.(1810-1812)ggafs	p.G604fs	PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.G50fs|PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.G604fs			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	604	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAGGGCCTCCCGGGGGGGCAGT	0.465													7	106	---	---	---	---					
LOC100507291	100507291	broad.mit.edu	37	3	139212981	139212982	+	RNA	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:139212981_139212982insC	ENST00000515247.1	+	0	317																											GATGACCAAGGCCCCCCCTTGT	0.530													9	104	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(940-945)atggggfs	p.MG314fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	314										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381													8	526	---	---	---	---					
FNDC3B	64778	broad.mit.edu	37	3	172096209	172096210	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:172096209_172096210insC	ENST00000336824.4	+	24	3257_3258	c.3158_3159insC	c.(3157-3159)gccfs	p.A1053fs	FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.A1053fs|FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.A1053fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1053						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACCAAAAGTGTCCCCCCCACCA	0.470													7	185	---	---	---	---					
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-684)gccfs	p.A228fs	FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525													16	642	---	---	---	---					
STIM2	57620	broad.mit.edu	37	4	27019446	27019447	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:27019446_27019447insC	ENST00000382009.3	+	12	2155_2156	c.1888_1889insC	c.(1888-1890)cccfs	p.P630fs	STIM2_ENST00000465503.1_Frame_Shift_Ins_p.P543fs|STIM2_ENST00000467087.1_Frame_Shift_Ins_p.P535fs|STIM2_ENST00000467011.1_Frame_Shift_Ins_p.P535fs|STIM2_ENST00000412829.2_Frame_Shift_Ins_p.P622fs|STIM2_ENST00000237364.5_Frame_Shift_Ins_p.P622fs	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	535					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TGCTCCACACGCCCCCCACCCG	0.619													12	419	---	---	---	---					
NAAA	27163	broad.mit.edu	37	4	76842176	76842177	+	Frame_Shift_Ins	INS	-	-	G	rs34351680		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:76842176_76842177insG	ENST00000286733.4	-	6	867_868	c.766_767insC	c.(766-768)ggafs	p.G256fs	NAAA_ENST00000399497.3_Frame_Shift_Ins_p.G256fs|NAAA_ENST00000511606.1_5'UTR|NAAA_ENST00000507956.1_Frame_Shift_Ins_p.G256fs|NAAA_ENST00000505594.1_Frame_Shift_Ins_p.G155fs	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	256					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						CACCCCCTCCCGGGGGGACGTG	0.510													7	219	---	---	---	---					
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:79238582_79238583insC	ENST00000264895.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1881)accfs	p.T627fs	FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	627					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAGCCTGCAGCCCCCCCAAGG	0.574													10	167	---	---	---	---					
SLC10A6	345274	broad.mit.edu	37	4	87769942	87769943	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:87769942_87769943insC	ENST00000273905.6	-	1	473_474	c.326_327insG	c.(325-327)gacfs	p.D109fs	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	109						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TAGAGATGGTGCCCCCCGGGCA	0.505													10	209	---	---	---	---					
ABCG2	9429	broad.mit.edu	37	4	89052270	89052271	+	Frame_Shift_Ins	INS	-	-	T	rs150450599	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:89052270_89052271insT	ENST00000237612.3	-	5	1018_1019	c.473_474insA	c.(472-474)agafs	p.R158fs	ABCG2_ENST00000515655.1_Frame_Shift_Ins_p.R158fs	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	158	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAATCCGTTCGTTTTTTTCATG	0.426													13	1327	---	---	---	---					
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351													7	1190	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													17	628	---	---	---	---					
CFI	3426	broad.mit.edu	37	4	110662158	110662159	+	Frame_Shift_Ins	INS	-	-	C	rs7437875	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:110662158_110662159insC	ENST00000394634.2	-	13	1849_1850	c.1642_1643insG	c.(1642-1644)aaafs	p.K548fs	CFI_ENST00000512148.1_Frame_Shift_Ins_p.K541fs|CFI_ENST00000394635.3_Frame_Shift_Ins_p.K556fs	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	548	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TCCACAGTTTTCCCCCCAACTC	0.465													10	521	---	---	---	---					
RRH	10692	broad.mit.edu	37	4	110763720	110763721	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:110763720_110763721insC	ENST00000317735.4	+	6	850_851	c.816_817insC	c.(814-819)ccccccfs	p.PP272fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	272					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		AGAAGATTCCTCCCCCCATGGC	0.416													7	653	---	---	---	---					
GAB1	2549	broad.mit.edu	37	4	144381536	144381537	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:144381536_144381537insC	ENST00000262995.4	+	9	2216_2217	c.1789_1790insC	c.(1789-1791)cccfs	p.P597fs	GAB1_ENST00000505913.1_Frame_Shift_Ins_p.P464fs|GAB1_ENST00000262994.4_Frame_Shift_Ins_p.P567fs	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	567					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTTTCCCATGTCCCCCCGACCA	0.406													9	682	---	---	---	---					
LRBA	987	broad.mit.edu	37	4	151749478	151749479	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:151749478_151749479insT	ENST00000535741.1	-	30	5497_5498	c.5024_5025insA	c.(5023-5025)agtfs	p.S1675fs	LRBA_ENST00000357115.3_Frame_Shift_Ins_p.S1675fs|LRBA_ENST00000510413.1_Frame_Shift_Ins_p.S1675fs|LRBA_ENST00000507224.1_Frame_Shift_Ins_p.S1675fs			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1675						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCACATTGACGTTTTTTGAAAC	0.450													7	950	---	---	---	---					
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:155526058_155526059insC	ENST00000404648.3	-	9	1528_1529	c.1289_1290insG	c.(1288-1290)ggcfs	p.G430fs	FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.450													8	619	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)ccaatcfs	p.I1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)			12	1466	---	---	---	---					
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr4:189012770_189012771insG	ENST00000512729.1	-	7	1294_1295	c.920_921insC	c.(919-921)cctfs	p.P307fs	TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	307	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCTTTTCAGAGGGGGGAAGAC	0.559													7	449	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13766238	13766239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:13766238_13766239insG	ENST00000265104.4	-	59	10051_10052	c.9947_9948insC	c.(9946-9948)ccafs	p.P3316fs	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3316	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATGAGGTGAGGGGGGCGGCC	0.530									Kartagener syndrome				10	801	---	---	---	---					
DROSHA	29102	broad.mit.edu	37	5	31526791	31526792	+	Frame_Shift_Ins	INS	-	-	G	rs149389256	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:31526791_31526792insG	ENST00000511367.2	-	4	492_493	c.248_249insC	c.(247-249)cccfs	p.P83fs	DROSHA_ENST00000442743.1_Frame_Shift_Ins_p.P83fs|DROSHA_ENST00000344624.3_Frame_Shift_Ins_p.P83fs|DROSHA_ENST00000513349.1_Frame_Shift_Ins_p.P83fs	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	83	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GAGGCATGGGTGGGGGGAAGGG	0.574													7	177	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													7	1029	---	---	---	---					
EGFLAM	133584	broad.mit.edu	37	5	38407191	38407192	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:38407191_38407192insG	ENST00000322350.5	+	8	1436_1437	c.1090_1091insG	c.(1090-1092)gggfs	p.G364fs	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs|EGFLAM_ENST00000354891.3_Frame_Shift_Ins_p.G364fs	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	364	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.S367fs*12(1)		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)					TGACTACACCTGGGGGGGCTCG	0.545													18	231	---	---	---	---					
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)ggcatgfs	p.M325fs	FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.540													23	321	---	---	---	---					
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)acgfs	p.T595fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCTCCTCGTTGGGGGGCAGGA	0.500													13	653	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggctcfs	p.L277fs	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376													15	406	---	---	---	---					
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:52402939_52402940insG	ENST00000361377.4	-	3	293_294	c.252_253insC	c.(250-255)ccttagfs	p.*85fs	MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	85					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426													7	193	---	---	---	---					
CDC20B	166979	broad.mit.edu	37	5	54410148	54410149	+	Splice_Site	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:54410148_54410149insG	ENST00000334206.5	-	13	1722		c.e13-2		CDC20B_ENST00000322374.6_Splice_Site|CDC20B_ENST00000296733.1_Splice_Site|CDC20B_ENST00000381375.2_Splice_Site			Q86Y33	CD20B_HUMAN	cell division cycle 20B											kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CCCTGTGGCCTGGGGGAAGAAG	0.554													10	1818	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													9	291	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													8	149	---	---	---	---					
EPB41L4A	64097	broad.mit.edu	37	5	111519753	111519754	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:111519753_111519754insT	ENST00000261486.5	-	18	1857_1858	c.1581_1582insA	c.(1579-1584)caccgafs	p.HR527fs	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	527						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTGGGGTCGGCTTGGTTTTTTT	0.431													7	379	---	---	---	---					
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)ccaagtfs	p.S880fs	SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604													8	266	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													16	482	---	---	---	---					
ARHGAP26	23092	broad.mit.edu	37	5	142586762	142586763	+	Splice_Site	INS	-	-	C	rs144777273		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:142586762_142586763insC	ENST00000378004.3	+	21	2343_2344		c.e21-1		ARHGAP26_ENST00000486650.1_Intron|ARHGAP26_ENST00000274498.4_Splice_Site	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26						actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTCTTGCAGCCCCCCGAATC	0.579													7	415	---	---	---	---					
GALNT10	55568	broad.mit.edu	37	5	153756009	153756010	+	Frame_Shift_Ins	INS	-	-	C	rs139479065		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:153756009_153756010insC	ENST00000297107.6	+	5	878_879	c.741_742insC	c.(739-744)ctccccfs	p.LP247fs	GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Frame_Shift_Ins_p.LP247fs	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	247	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCAACTGGCTTCCCCCCTTGCT	0.584													8	293	---	---	---	---					
GABRA6	2559	broad.mit.edu	37	5	161116011	161116012	+	Frame_Shift_Ins	INS	-	-	G	rs143274925		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:161116011_161116012insG	ENST00000523217.1	+	4	494_495	c.252_253insG	c.(250-255)ttggggfs	p.LG84fs	GABRA6_ENST00000274545.5_Frame_Shift_Ins_p.LG94fs|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	94					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTTGAAGTTTGGGGGGCCAAC	0.406										TCGA Ovarian(5;0.080)			12	772	---	---	---	---					
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)ccagatfs	p.D274fs	KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	274							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579													9	519	---	---	---	---					
F13A1	2162	broad.mit.edu	37	6	6197470	6197471	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:6197470_6197471insG	ENST00000264870.3	-	9	1466_1467	c.1201_1202insC	c.(1201-1203)ggafs	p.G401fs		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	401					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.Q401fs*4(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GCTATTTTCCTGGGGGGTGCTG	0.480													7	333	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													20	511	---	---	---	---					
KIF13A	63971	broad.mit.edu	37	6	17837307	17837308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:17837307_17837308insC	ENST00000378814.5	-	11	955_956	c.956_957insG	c.(955-957)gaafs	p.E319fs	KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.E319fs	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	319					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTGGCTGTTGCCCCCCAAGTT	0.450													16	399	---	---	---	---					
NRSN1	140767	broad.mit.edu	37	6	24145844	24145845	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:24145844_24145845insC	ENST00000378491.4	+	4	559_560	c.258_259insC	c.(256-261)gtccccfs	p.VP86fs		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	86					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTTCTTGTGCCCCCCAAAAT	0.485													7	348	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31608570	31608571	+	Splice_Site	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:31608570_31608571insG	ENST00000404765.2	-	21	3221_3222	c.2934_splice	c.e21+1	p.A978_splice	BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000211379.5_Splice_Site_p.A942_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice|BAG6_ENST00000362049.6_Splice_Site_p.A942_splice			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	948					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTCCCTTACCTGGGGGGGATCA	0.535													13	227	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													16	329	---	---	---	---					
NOTCH4	4855	broad.mit.edu	37	6	32188923	32188924	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:32188923_32188924insG	ENST00000375023.3	-	4	768_769	c.630_631insC	c.(628-633)tcgccafs	p.P211fs		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	211	EGF-like 5; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGTTATGGCAGGAGGTGCCTT	0.649													7	286	---	---	---	---					
BRD2	6046	broad.mit.edu	37	6	32948228	32948229	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:32948228_32948229insC	ENST00000395289.2	+	13	3962_3963	c.2361_2362insC	c.(2359-2364)aaccccfs	p.NP787fs	BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs|BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs			P25440	BRD2_HUMAN	bromodomain containing 2	752	ET.|Poly-Ser.|Ser-rich.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTACTAAAAAGCCCCCCAAGAA	0.426													7	295	---	---	---	---					
RXRB	6257	broad.mit.edu	37	6	33164224	33164224	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:33164224delC	ENST00000374680.3	-	5	1191	c.980delG	c.(979-981)gtfs	p.G327fs	RXRB_ENST00000544186.1_Frame_Shift_Del_p.G137fs|RXRB_ENST00000374685.4_Frame_Shift_Del_p.G327fs|RXRB_ENST00000413614.2_Frame_Shift_Del_p.G231fs	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	327	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GCTGCCGCTACCCCCGGTTCC	0.622													32	189	---	---	---	---					
VPS52	6293	broad.mit.edu	37	6	33219719	33219720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:33219719_33219720insG	ENST00000445902.2	-	18	2041_2042	c.1823_1824insC	c.(1822-1824)cttfs	p.L608fs	HCG25_ENST00000450514.1_RNA|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Frame_Shift_Ins_p.L483fs|HCG25_ENST00000427196.1_RNA	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	608					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AACCCCCAAAAGGGGGAGACAG	0.480													50	166	---	---	---	---					
MAPK14	1432	broad.mit.edu	37	6	36068005	36068006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:36068005_36068006insC	ENST00000229795.3	+	9	1170_1171	c.723_724insC	c.(721-726)acccccfs	p.TP241fs	MAPK14_ENST00000229794.4_Intron|MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000468133.1_Intron	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	241	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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 activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGACAGGAACACCCCCCGCTTA	0.426													8	710	---	---	---	---					
PKHD1	5314	broad.mit.edu	37	6	51484320	51484321	+	Splice_Site	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:51484320_51484321insG	ENST00000371117.3	-	67	12061		c.e67-2		RP3-335N17.2_ENST00000589278.1_RNA|RP3-335N17.2_ENST00000454361.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTCTCATATCTGGGGGGAAAAG	0.426													9	418	---	---	---	---					
EFHC1	114327	broad.mit.edu	37	6	52334207	52334208	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:52334207_52334208insA	ENST00000371068.5	+	7	1317_1318	c.1214_1215insA	c.(1213-1215)caafs	p.Q405fs	EFHC1_ENST00000433625.2_Frame_Shift_Ins_p.Q314fs|EFHC1_ENST00000538167.1_Frame_Shift_Ins_p.Q386fs	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	405						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CCAAAAGCTCCAAAAAAAGACG	0.371													8	366	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564													11	451	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55113573	55113574	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:55113573_55113574insT	ENST00000370862.3	+	2	696_697	c.360_361insT	c.(358-363)tgttttfs	p.CF120fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	120					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAGACCTGGTTTTTTGGACA	0.431													8	1972	---	---	---	---					
EEF1A1	1915	broad.mit.edu	37	6	74229134	74229136	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:74229134_74229136delTGC	ENST00000316292.9	-	2	1239_1241	c.248_250delGCA	c.(247-252)aag>a	p.SK83del	EEF1A1_ENST00000331523.2_In_Frame_Del_p.SK83del|EEF1A1_ENST00000309268.6_In_Frame_Del_p.SK83del|EEF1A1_ENST00000491404.1_5'UTR	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	83				S -> A (in Ref. 6; CAA27325).		cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACATAGTACTTGCTGGTCTCAAA	0.429											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	30	---	---	---	---					
RFX6	222546	broad.mit.edu	37	6	117250016	117250017	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:117250016_117250017insC	ENST00000332958.2	+	18	2509_2510	c.2493_2494insC	c.(2491-2496)ctccccfs	p.LP831fs		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	831					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCGTTCACTGCCCCCCTACAG	0.455													7	296	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													31	471	---	---	---	---					
UST	10090	broad.mit.edu	37	6	149395141	149395142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:149395141_149395142insC	ENST00000367463.4	+	8	1213_1214	c.1110_1111insC	c.(1108-1113)aaccccfs	p.NP370fs	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	370					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACGTCAGCAAGCCCCCCCTGAG	0.490													13	238	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)gggfs	p.G360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	360	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475													17	369	---	---	---	---					
ETV1	2115	broad.mit.edu	37	7	13975472	13975473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:13975472_13975473insG	ENST00000343495.5	-	7	1098_1099	c.360_361insC	c.(358-363)cccaccfs	p.T121fs	ETV1_ENST00000430479.1_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs			P50549	ETV1_HUMAN	ets variant 1	139					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGGATGGTGTGGGGGGGTTGG	0.530			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								16	417	---	---	---	---					
NUPL2	11097	broad.mit.edu	37	7	23224772	23224773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:23224772_23224773insG	ENST00000258742.5	+	2	464_465	c.205_206insG	c.(205-207)gggfs	p.G69fs	NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.G69fs|NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	69					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAGC	0.406													8	204	---	---	---	---					
OSBPL3	26031	broad.mit.edu	37	7	24881942	24881943	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:24881942_24881943insA	ENST00000313367.2	-	13	1807_1808	c.1356_1357insT	c.(1354-1359)ttatgcfs	p.LC452fs	OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.LC416fs|OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.LC385fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.LC421fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.LC421fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.LC385fs|OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.LC416fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	452					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCTGAGCATCAAAAAACTCAG	0.401													14	1428	---	---	---	---					
GARS	2617	broad.mit.edu	37	7	30671997	30671998	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:30671997_30671998insC	ENST00000389266.3	+	16	2279_2280	c.2038_2039insC	c.(2038-2040)cccfs	p.P680fs		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	680					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	AGTGAACAAGACCCCCCACACT	0.500													8	1303	---	---	---	---					
BBS9	27241	broad.mit.edu	37	7	33312723	33312723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:33312723delT	ENST00000242067.6	+	8	1323	c.802delT	c.(802-804)ttfs	p.F269fs	BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	269					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGAGAGAAACTTTTTTTGCCT	0.393									Bardet-Biedl syndrome				8	998	---	---	---	---					
EPDR1	54749	broad.mit.edu	37	7	37988587	37988588	+	Frame_Shift_Ins	INS	-	-	T	rs145911941	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:37988587_37988588insT	ENST00000199448.4	+	2	794_795	c.415_416insT	c.(415-417)cggfs	p.R139fs	EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000425345.1_Frame_Shift_Ins_p.R78fs|EPDR1_ENST00000559325.1_Frame_Shift_Ins_p.R259fs|EPDR1_ENST00000476620.1_Frame_Shift_Ins_p.R37fs	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	139					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCAGTACTCCATCGGGGGGCCT	0.510													16	1201	---	---	---	---					
POU6F2	11281	broad.mit.edu	37	7	39472763	39472764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:39472763_39472764insC	ENST00000518318.2	+	7	1156_1157	c.1114_1115insC	c.(1114-1116)cccfs	p.P372fs	POU6F2_ENST00000403058.1_Frame_Shift_Ins_p.P372fs|POU6F2_ENST00000559001.1_Frame_Shift_Ins_p.P317fs			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	372	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCAGCCAATCACCCCCCAGCTC	0.594													10	430	---	---	---	---					
C7orf10	79783	broad.mit.edu	37	7	40899961	40899962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:40899961_40899962insC	ENST00000309930.5	+	15	1323_1324	c.1299_1300insC	c.(1297-1302)ccccccfs	p.PP433fs	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Frame_Shift_Ins_p.PP407fs|C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.PP359fs	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	407							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGCCAGGCCGCCCCCGCTGCT	0.569													26	2063	---	---	---	---					
POLR2J4	84820	broad.mit.edu	37	7	44012373	44012374	+	RNA	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:44012373_44012374insG	ENST00000427076.1	-	0	1008					NR_003655.2																						AGGGCCCCCCCGGGGGGAGCAG	0.629													4	8	---	---	---	---					
PILRA	29992	broad.mit.edu	37	7	99997490	99997491	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:99997490_99997491insC	ENST00000198536.2	+	7	1084_1085	c.872_873insC	c.(871-873)accfs	p.T291fs	PILRA_ENST00000453419.1_Frame_Shift_Ins_p.DP205fs|PILRA_ENST00000350573.2_Frame_Shift_Ins_p.T218fs|PILRA_ENST00000394000.2_3'UTR	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	291					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCTCAAGAGCCCCCAGAACG	0.589													10	1071	---	---	---	---					
LAMB1	3912	broad.mit.edu	37	7	107594140	107594141	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:107594140_107594141insC	ENST00000393561.1	-	20	3169_3170	c.2985_2986insG	c.(2983-2988)ggcgtgfs	p.V996fs	LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.V972fs			P07942	LAMB1_HUMAN	laminin, beta 1	972	Laminin EGF-like 10.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTGACACGACCCCCCAACTT	0.505													9	547	---	---	---	---					
CPED1	79974	broad.mit.edu	37	7	120740133	120740134	+	Frame_Shift_Ins	INS	-	-	C	rs145131821		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:120740133_120740134insC	ENST00000310396.5	+	7	1370_1371	c.903_904insC	c.(901-906)aagcttfs	p.KL301fs	CPED1_ENST00000450913.2_Frame_Shift_Ins_p.KL301fs|CPED1_ENST00000423795.1_Frame_Shift_Ins_p.KL81fs	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.R302C(1)									CAAAGAAAAAACGCTTCACTGT	0.426													15	154	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													7	755	---	---	---	---					
KEL	3792	broad.mit.edu	37	7	142639979	142639980	+	Frame_Shift_Ins	INS	-	-	C	rs140258059		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr7:142639979_142639980insC	ENST00000355265.2	-	17	2397_2398	c.1923_1924insG	c.(1921-1926)ggtagcfs	p.S642fs		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	642					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCGATGGCTAGCCCCCCAACGT	0.500													10	1217	---	---	---	---					
MYOM2	9172	broad.mit.edu	37	8	2088682	2088683	+	Frame_Shift_Ins	INS	-	-	G	rs34620424	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:2088682_2088683insG	ENST00000262113.4	+	33	3978_3979	c.3837_3838insG	c.(3835-3840)atggggfs	p.MG1279fs	MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1279					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTGA	0.446													12	410	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:18413784_18413785insG	ENST00000440756.2	-	15	2970_2971	c.2868_2869insC	c.(2866-2871)ccacaafs	p.Q957fs	PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.480													11	1139	---	---	---	---					
SLC18A1	6570	broad.mit.edu	37	8	20004787	20004788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:20004787_20004788insG	ENST00000440926.1	-	16	1915_1916	c.1445_1446insC	c.(1444-1446)cgcfs	p.R482fs	SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000276373.5_Frame_Shift_Ins_p.R482fs	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	482					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CTTCCTTTGCCGGGGGGCTCCG	0.500													7	345	---	---	---	---					
NUGGC	389643	broad.mit.edu	37	8	27880848	27880849	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:27880848_27880849insG	ENST00000413272.2	-	19	2518_2519	c.2376_2377insC	c.(2374-2379)ccggacfs	p.D793fs	NUGGC_ENST00000341513.6_Frame_Shift_Ins_p.D793fs	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.P792P(2)									AGTGATGTCCCGGGGGGGCCAG	0.525													10	90	---	---	---	---					
KAT6A	7994	broad.mit.edu	37	8	41834603	41834604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:41834603_41834604insC	ENST00000396930.3	-	8	1828_1829	c.1285_1286insG	c.(1285-1287)agtfs	p.S429fs	KAT6A_ENST00000485568.1_Frame_Shift_Ins_p.S429fs|KAT6A_ENST00000406337.1_Frame_Shift_Ins_p.S429fs|KAT6A_ENST00000265713.2_Frame_Shift_Ins_p.S429fs	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	429	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GTCCACCACTTCCCCCCGAGCT	0.465													9	253	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													24	289	---	---	---	---					
SULF1	23213	broad.mit.edu	37	8	70488248	70488249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:70488248_70488249insG	ENST00000260128.4	+	6	933_934	c.216_217insG	c.(214-219)caggggfs	p.QG72fs	SULF1_ENST00000402687.4_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000458141.2_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000419716.3_Frame_Shift_Ins_p.QG72fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	72					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATGGAACATGGGGGGGCCAC	0.495													7	119	---	---	---	---					
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:70514026delT	ENST00000260128.4	+	10	1740	c.1023delT	c.(1021-1023)ccfs	p.P341fs	SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	341					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408													9	1679	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73480091	73480092	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:73480091_73480092insG	ENST00000523207.1	+	2	710_711	c.122_123insG	c.(121-123)gggfs	p.G41fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	41					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAGATCAATGTGGGGGGCCTCA	0.564													10	440	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386													8	77	---	---	---	---					
KCNQ3	3786	broad.mit.edu	37	8	133142049	133142050	+	Frame_Shift_Ins	INS	-	-	G	rs145204452		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr8:133142049_133142050insG	ENST00000388996.4	-	15	2498_2499	c.2078_2079insC	c.(2077-2079)cgafs	p.R693fs	KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.R573fs|KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.R681fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	693					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E694fs*12(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGGGTGGTTCCGGGGGGCCTGT	0.545													7	196	---	---	---	---					
RLN2	6019	broad.mit.edu	37	9	5304560	5304561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:5304560_5304561insA	ENST00000381627.3	-	1	408_409	c.20_21insT	c.(19-21)tcafs	p.S7fs	RLN2_ENST00000308420.3_Frame_Shift_Ins_p.S7fs	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	7					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGCAGGTGGAAAAAAAACAG	0.535													8	375	---	---	---	---					
TEK	7010	broad.mit.edu	37	9	27204925	27204926	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:27204925_27204926insG	ENST00000380036.4	+	14	2668_2669	c.2226_2227insG	c.(2224-2229)ggggggfs	p.GG742fs	TEK_ENST00000519097.1_Frame_Shift_Ins_p.GG595fs|TEK_ENST00000406359.4_Frame_Shift_Ins_p.GG699fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	742					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CGGACCTCGGAGGGGGGAAGAT	0.510													7	462	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)ccatttfs	p.F151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion|ribosome		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401													10	465	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)gttfs	p.V592fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.540													7	298	---	---	---	---					
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5409)tggfs	p.W1803fs	ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					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						GCCAGCAAGTTGGGGGGCTACT	0.550													8	283	---	---	---	---					
NUP214	8021	broad.mit.edu	37	9	134073007	134073008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr9:134073007_134073008insC	ENST00000359428.5	+	29	4270_4271	c.4126_4127insC	c.(4126-4128)cccfs	p.P1376fs	NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P1366fs|NUP214_ENST00000483497.2_Frame_Shift_Ins_p.P202fs|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P1377fs			P35658	NU214_HUMAN	nucleoporin 214kDa	1376	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAATTTTACTGCCCCCCCGGTG	0.545			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								12	159	---	---	---	---					
PALD1	27143	broad.mit.edu	37	10	72292440	72292441	+	Frame_Shift_Ins	INS	-	-	G	rs145337663	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:72292440_72292441insG	ENST00000263563.6	+	6	965_966	c.697_698insG	c.(697-699)gggfs	p.G233fs		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CGAGGACCTGTGGGGGGAGCCC	0.604													13	485	---	---	---	---					
GRID1	2894	broad.mit.edu	37	10	87407105	87407105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:87407105delG	ENST00000327946.7	-	13	2132	c.2047delC	c.(2047-2049)ggfs	p.R683fs	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Frame_Shift_Del_p.R254fs	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	683						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCAGAATCCCGGACAGTGCCA	0.532										Multiple Myeloma(13;0.14)			234	1523	---	---	---	---					
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:93272060_93272061insC	ENST00000446394.1	+	22	2362_2363	c.2262_2263insC	c.(2260-2265)ctccccfs	p.LP754fs	HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs|HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs|HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	750	HECT.				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						AACTTTGCCTTCCCCCCTACAA	0.356													10	716	---	---	---	---					
CYP2C18	1562	broad.mit.edu	37	10	96480183	96480184	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:96480183_96480184insT	ENST00000285979.6	+	6	1049_1050	c.850_851insT	c.(850-852)tgafs	p.*284fs	CYP2C18_ENST00000339022.5_Frame_Shift_Ins_p.*225fs|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TGAATTTACTGTTGAAAGCTTG	0.361													61	157	---	---	---	---					
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1771-1776)gaccccfs	p.DP591fs	BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	591					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431													10	330	---	---	---	---					
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(586-591)gtccccfs	p.VP196fs		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	196					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317													14	305	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)cccfs	p.P147fs	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.510													23	1159	---	---	---	---					
OR52E4	390081	broad.mit.edu	37	11	5905552	5905553	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:5905552_5905553insC	ENST00000316987.2	+	1	52_53	c.30_31insC	c.(28-33)taccccfs	p.YP10fs		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACTTCTATCCCCCCTTCTT	0.441													8	775	---	---	---	---					
EIF4G2	1982	broad.mit.edu	37	11	10820934	10820935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:10820934_10820935insG	ENST00000526148.1	-	20	2871_2872	c.2361_2362insC	c.(2359-2364)ccgcgafs	p.R788fs	EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs|EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	788	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.S788R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTTCATCGCTGGGGGGGTTTA	0.406													9	117	---	---	---	---					
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)aacfs	p.N202fs	APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs|APIP_ENST00000527830.1_5'UTR	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	202					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.450													8	687	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(748-753)atccccfs	p.IP250fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.480													12	1215	---	---	---	---					
OR4P4	81300	broad.mit.edu	37	11	55406728	55406728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:55406728delG	ENST00000314612.2	+	1	895	c.895delG	c.(895-897)tgfs	p.V299fs		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CATGAGGAAAGTGTGGTGTTG	0.393													116	158	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:61183884_61183885insG	ENST00000340437.4	-	6	866_867	c.786_787insC	c.(784-789)ccgtgtfs	p.C263fs	CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594													9	604	---	---	---	---					
LRRC32	2615	broad.mit.edu	37	11	76371428	76371429	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:76371428_76371429insG	ENST00000407242.2	-	3	1450_1451	c.1208_1209insC	c.(1207-1209)ctafs	p.L403fs	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Frame_Shift_Ins_p.L403fs|LRRC32_ENST00000404995.1_Frame_Shift_Ins_p.L403fs	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	403						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAAAGGTGTATGGGGGCAGGTC	0.663													11	19	---	---	---	---					
SYTL2	54843	broad.mit.edu	37	11	85435355	85435356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:85435355_85435356insG	ENST00000359152.5	-	1	3715_3716	c.3716_3717insC	c.(3715-3717)cgafs	p.R1239fs	SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	400					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCCTGTCCTCTGGGGGGGTTAC	0.480													9	210	---	---	---	---					
PIWIL4	143689	broad.mit.edu	37	11	94353003	94353004	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:94353003_94353004insC	ENST00000299001.6	+	18	2457_2458	c.2246_2247insC	c.(2245-2247)accfs	p.T749fs	RP11-867G2.8_ENST00000536540.1_RNA|PIWIL4_ENST00000537419.1_Frame_Shift_Ins_p.T100fs|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	749	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACTGTACAGAACCCCCCACTTG	0.436													7	543	---	---	---	---					
AMOTL1	154810	broad.mit.edu	37	11	94533454	94533455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:94533454_94533455insC	ENST00000433060.2	+	3	1239_1240	c.1098_1099insC	c.(1096-1101)ccccccfs	p.PP366fs	AMOTL1_ENST00000317837.9_Frame_Shift_Ins_p.PP366fs|AMOTL1_ENST00000317829.8_Frame_Shift_Ins_p.PP316fs	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	366						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GGTACCAGCCACCCCCTGAGTA	0.500													10	1238	---	---	---	---					
MMP13	4322	broad.mit.edu	37	11	102820917	102820918	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:102820917_102820918insT	ENST00000260302.3	-	6	866_867	c.838_839insA	c.(838-840)gccfs	p.A280fs	MMP13_ENST00000340273.4_Frame_Shift_Ins_p.A280fs	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	280					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TTTGTCTGGCGTTTTTGGATGT	0.431													7	1931	---	---	---	---					
LOC643733	643733	broad.mit.edu	37	11	104778247	104778248	+	RNA	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:104778247_104778248insC	ENST00000532510.1	-	0	1184_1185																											TTCCACACATTCCCCCCAGGAT	0.505													7	432	---	---	---	---					
HTR3A	3359	broad.mit.edu	37	11	113857332	113857333	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:113857332_113857333insC	ENST00000504030.2	+	7	1243_1244	c.798_799insC	c.(796-801)ctccccfs	p.LP266fs	HTR3A_ENST00000506841.2_Frame_Shift_Ins_p.LP266fs|HTR3A_ENST00000375498.2_Frame_Shift_Ins_p.LP272fs|HTR3A_ENST00000535865.1_Frame_Shift_Ins_p.LP10fs|HTR3A_ENST00000299961.5_Frame_Shift_Ins_p.LP251fs|HTR3A_ENST00000355556.2_Frame_Shift_Ins_p.LP272fs			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	266					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GCTTCTACCTGCCCCCCAACAG	0.594													7	192	---	---	---	---					
AKAP3	10566	broad.mit.edu	37	12	4736153	4736154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:4736153_4736154insG	ENST00000545990.2	-	5	2438_2439	c.1914_1915insC	c.(1912-1917)ccggctfs	p.A639fs	AKAP3_ENST00000228850.1_Frame_Shift_Ins_p.A639fs	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	639					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCATATAGCCTGGGGGGAGAAG	0.540													7	250	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													8	194	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-474)tccfs	p.S158fs	C1S_ENST00000402681.3_5'UTR|C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCTGCTCCTGCCCCCCGGAAT	0.455													9	377	---	---	---	---					
A2ML1	144568	broad.mit.edu	37	12	9001442	9001443	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:9001442_9001443insC	ENST00000299698.7	+	16	2140_2141	c.1960_1961insC	c.(1960-1962)gagfs	p.E654fs	A2ML1_ENST00000539547.1_Frame_Shift_Ins_p.E163fs	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	498						extracellular space	endopeptidase inhibitor activity	p.S654L(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCAAGGGCATTCGAGCCAGCGT	0.525													13	2417	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													23	942	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													9	395	---	---	---	---					
ITPR2	3709	broad.mit.edu	37	12	26750053	26750054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:26750053_26750054insC	ENST00000381340.3	-	31	4432_4433	c.4016_4017insG	c.(4015-4017)ggafs	p.G1339fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1339					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GCACGTCTTCACCCCCATTTAT	0.416													9	1611	---	---	---	---					
KLHL42	57542	broad.mit.edu	37	12	27950768	27950769	+	Frame_Shift_Ins	INS	-	-	G	rs145908611	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:27950768_27950769insG	ENST00000381271.2	+	3	1498_1499	c.1187_1188insG	c.(1186-1188)gggfs	p.G396fs		NM_020782.1	NP_065833.1			kelch-like family member 42																		ATCTACATCGTGGGGGGGTGTC	0.594													14	267	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)cccfs	p.P647fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATACCTCAGGTGGGGGGGACAT	0.634													9	102	---	---	---	---					
KRT79	338785	broad.mit.edu	37	12	53215777	53215778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:53215777_53215778insC	ENST00000330553.5	-	9	1520_1521	c.1486_1487insG	c.(1486-1488)cacfs	p.H496fs		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	496	Tail.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCCTTGGTGGCCCCCCCACTC	0.619													7	65	---	---	---	---					
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)ccaggcfs	p.G490fs	STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594													11	187	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)gggfs	p.G272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599													14	470	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								16	434	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)ccgggcfs	p.PG444fs	BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594													11	281	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													12	360	---	---	---	---					
UTP20	27340	broad.mit.edu	37	12	101680156	101680157	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:101680156_101680157insT	ENST00000261637.4	+	5	558_559	c.384_385insT	c.(382-387)gattttfs	p.DF128fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	128					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACTTTCCAGAGTTTTTTTTGAC	0.396													16	1348	---	---	---	---					
UTP20	27340	broad.mit.edu	37	12	101727153	101727153	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:101727153delG	ENST00000261637.4	+	28	3666	c.3492delG	c.(3490-3492)ttfs	p.L1164fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1164					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATATCTTTTTGGACTGGGAAT	0.348													125	229	---	---	---	---					
MYBPC1	4604	broad.mit.edu	37	12	102057273	102057274	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:102057273_102057274insC	ENST00000549145.1	+	21	2355_2356	c.2255_2256insC	c.(2254-2256)cccfs	p.P752fs	MYBPC1_ENST00000547509.1_Frame_Shift_Ins_p.P725fs|MYBPC1_ENST00000547405.1_Frame_Shift_Ins_p.P713fs|MYBPC1_ENST00000545503.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000541119.1_Frame_Shift_Ins_p.P727fs|MYBPC1_ENST00000536007.1_Frame_Shift_Ins_p.P720fs|MYBPC1_ENST00000553190.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000452455.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000441232.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000392934.3_Frame_Shift_Ins_p.P726fs|MYBPC1_ENST00000551300.1_Frame_Shift_Ins_p.P640fs|MYBPC1_ENST00000361685.2_Frame_Shift_Ins_p.P764fs|MYBPC1_ENST00000361466.2_Frame_Shift_Ins_p.P764fs|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000360610.2_Frame_Shift_Ins_p.P739fs			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	739	Fibronectin type-III 2.			Y -> H (in Ref. 3; CAD38925).	cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATGAGGTGGCGCCCCCCAGACC	0.436													7	418	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132466645	132466646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:132466645_132466646insC	ENST00000333577.4	+	6	1768_1769	c.1659_1660insC	c.(1657-1662)atccccfs	p.IP553fs	EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs			Q96L91	EP400_HUMAN	E1A binding protein p400	553					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)		CAGGAGGAATGCCCCCCACGCC	0.589													7	266	---	---	---	---					
ATP12A	479	broad.mit.edu	37	13	25262563	25262564	+	Frame_Shift_Ins	INS	-	-	G	rs35191129		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr13:25262563_25262564insG	ENST00000218548.6	+	4	668_669	c.335_336insG	c.(334-336)gggfs	p.G112fs	ATP12A_ENST00000381946.3_Frame_Shift_Ins_p.G112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAGCAGATGGTGGGGGGGTTCT	0.584													28	710	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)ccagaafs	p.E1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.480													21	854	---	---	---	---					
OR10G2	26534	broad.mit.edu	37	14	22102924	22102925	+	Frame_Shift_Ins	INS	-	-	G	rs150140072		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:22102924_22102925insG	ENST00000542433.1	-	1	171_172	c.74_75insC	c.(73-75)caafs	p.Q25fs		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCTTAGATTTGGGGGGTGAGA	0.480													9	507	---	---	---	---					
CTSG	1511	broad.mit.edu	37	14	25042847	25042848	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:25042847_25042848insG	ENST00000216336.2	-	5	799_800	c.763_764insC	c.(763-765)gtgfs	p.V255fs		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	255					immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		AGTCAGTCACAGGGGGGTCTCC	0.490													10	2045	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)cccfs	p.P9fs	AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505													7	1088	---	---	---	---					
BAZ1A	11177	broad.mit.edu	37	14	35331422	35331423	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:35331422_35331423insT	ENST00000360310.1	-	3	786_787	c.219_220insA	c.(217-222)aacaagfs	p.NK73fs	BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000382422.2_Frame_Shift_Ins_p.NK73fs|BAZ1A_ENST00000358716.4_Frame_Shift_Ins_p.NK73fs	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	73	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTCTGTCTTGCTTTTTTTTCTG	0.426													9	735	---	---	---	---					
RALGAPA1	253959	broad.mit.edu	37	14	36207803	36207804	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:36207803_36207804insT	ENST00000258840.6	-	12	1892_1893	c.1502_1503insA	c.(1501-1503)aggfs	p.R501fs	RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.R501fs|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Frame_Shift_Ins_p.R501fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Ins_p.R501fs			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	501					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTAGGAGCCGTTTTTTGCCCA	0.421													16	1946	---	---	---	---					
RALGAPA1	253959	broad.mit.edu	37	14	36226074	36226075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:36226074_36226075insG	ENST00000258840.6	-	7	977_978	c.587_588insC	c.(586-588)ccafs	p.P196fs	RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.P196fs|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Frame_Shift_Ins_p.P196fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Ins_p.P196fs			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	196					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCCTGATTGTGGGGGGACAAG	0.317													7	1125	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72054754	72054755	+	Frame_Shift_Ins	INS	-	-	C	rs12884638	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:72054754_72054755insC	ENST00000555818.1	+	2	513_514	c.165_166insC	c.(163-168)ggccccfs	p.GP55fs	SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.GP55fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.GP55fs	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	55					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCCTGTAGGACCCCCCCGAAG	0.535													11	240	---	---	---	---					
YLPM1	56252	broad.mit.edu	37	14	75248518	75248519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr14:75248518_75248519insC	ENST00000325680.7	+	4	1896_1897	c.1772_1773insC	c.(1771-1773)cccfs	p.P591fs	YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P591fs|YLPM1_ENST00000238571.3_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCACCAGTTCTCCCCCCACCTT	0.599													7	299	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													13	552	---	---	---	---					
WDR72	256764	broad.mit.edu	37	15	53908071	53908071	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:53908071delT	ENST00000396328.1	-	15	2571	c.2332delA	c.(2332-2334)tgfs	p.M778fs	WDR72_ENST00000360509.5_Frame_Shift_Del_p.M778fs|WDR72_ENST00000557913.1_Frame_Shift_Del_p.M775fs|WDR72_ENST00000559418.1_Frame_Shift_Del_p.M788fs	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	778										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTAGGCTGCATTTTTTTGGAG	0.393													7	912	---	---	---	---					
ALDH1A2	8854	broad.mit.edu	37	15	58256170	58256177	+	Frame_Shift_Del	DEL	ATAGATGG	ATAGATGG	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:58256170_58256177delATAGATGG	ENST00000249750.4	-	9	1759_1766	c.992_999delCCATCTAT	c.(991-999)tfs	p.SIY331fs	ALDH1A2_ENST00000558231.1_Frame_Shift_Del_p.SIY302fs|ALDH1A2_ENST00000559517.1_Frame_Shift_Del_p.SIY235fs|ALDH1A2_ENST00000537372.1_Frame_Shift_Del_p.SIY310fs|ALDH1A2_ENST00000347587.3_Frame_Shift_Del_p.SIY293fs	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	331					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CAAACTCCTCATAGATGGACTCCTCCAC	0.562													12	100	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64967993	64967994	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:64967993_64967994insC	ENST00000326648.3	+	4	3068_3069	c.2940_2941insC	c.(2938-2943)gtccccfs	p.VP980fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	980						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGCCTATGTACCCCCCTATGG	0.550													10	1025	---	---	---	---					
ZG16B	124220	broad.mit.edu	37	16	2882139	2882139	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:2882139delA	ENST00000382280.3	+	4	685	c.606delA	c.(604-606)gcfs	p.A202fs	ZG16B_ENST00000572863.1_Frame_Shift_Del_p.A172fs	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	202						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CATACTCAGCAAACTCACCCG	0.552													35	24	---	---	---	---					
MEFV	4210	broad.mit.edu	37	16	3293233	3293233	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:3293233delG	ENST00000219596.1	-	10	2293	c.2254delC	c.(2254-2256)ttfs	p.L752fs	MEFV_ENST00000339854.4_Frame_Shift_Del_p.L572fs|MEFV_ENST00000536379.1_Frame_Shift_Del_p.L541fs|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	752	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	ATAGGTTGAAGGGGCCCAGAG	0.532													24	24	---	---	---	---					
EMP2	2013	broad.mit.edu	37	16	10637490	10637491	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:10637490_10637491insA	ENST00000359543.3	-	3	314_315	c.105_106insT	c.(103-108)ttcagafs	p.R36fs	EMP2_ENST00000536829.1_Frame_Shift_Ins_p.R36fs	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	36					cell proliferation	integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						CAGACATCTGCAAAAAACTCAT	0.441													8	915	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505													10	341	---	---	---	---					
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs146499503		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)ccgcacfs	p.H405fs	ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000567288.1_5'UTR	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515													12	351	---	---	---	---					
TNRC6A	27327	broad.mit.edu	37	16	24804889	24804890	+	Frame_Shift_Ins	INS	-	-	G	rs139796934		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:24804889_24804890insG	ENST00000395799.3	+	7	3400_3401	c.3271_3272insG	c.(3271-3273)gggfs	p.G1091fs	TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.G1091fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1091	Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGTCCCAGCTGGGGGGAACCC	0.550													7	555	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30733909	30733910	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:30733909_30733910insG	ENST00000262518.4	+	23	4117_4118	c.3732_3733insG	c.(3730-3735)gcggggfs	p.AG1244fs	SRCAP_ENST00000395059.2_Intron|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1244	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGTGTCAGCAGGGGGGCAGCA	0.614													12	530	---	---	---	---					
C16orf87	388272	broad.mit.edu	37	16	46843530	46843531	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:46843530_46843531insT	ENST00000285697.4	-	3	591_592	c.330_331insA	c.(328-333)aaatgafs	p.*111fs	C16orf87_ENST00000394806.2_Intron|C16orf87_ENST00000564250.1_5'UTR	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	111										large_intestine(4)|urinary_tract(1)	5						TCTTCCTCATGTTTTTTGGCAG	0.351													8	980	---	---	---	---					
RBL2	5934	broad.mit.edu	37	16	53504347	53504348	+	Frame_Shift_Ins	INS	-	-	G	rs67487800		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:53504347_53504348insG	ENST00000262133.6	+	16	2435_2436	c.2298_2299insG	c.(2296-2301)gtggggfs	p.VG766fs	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	766	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAGTCAATGTTGGGGGGCAGGC	0.480													15	459	---	---	---	---					
RP11-439I14.2	0	broad.mit.edu	37	16	64770704	64770705	+	RNA	INS	-	-	CCAGTGATGGTCACCT	rs140029302	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:64770704_64770705insCCAGTGATGGTCACCT	ENST00000564293.1	+	0	453_454																											TGTCACCACTGCCACCTTGTTC	0.371													7	15	---	---	---	---					
CDH11	1009	broad.mit.edu	37	16	65022076	65022077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:65022076_65022077insC	ENST00000394156.3	-	7	1435_1436	c.982_983insG	c.(982-984)gatfs	p.D328fs	CDH11_ENST00000268603.4_Frame_Shift_Ins_p.D328fs|CDH11_ENST00000566827.1_Frame_Shift_Ins_p.D202fs			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	328	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CAGCTTTATCACCCCCTCCTGT	0.460			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			10	1925	---	---	---	---					
WDR59	79726	broad.mit.edu	37	16	74943495	74943496	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:74943495_74943496insG	ENST00000262144.6	-	16	1675_1676	c.1545_1546insC	c.(1543-1548)cctaccfs	p.T516fs		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	516										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AACGTCGGTAAGGGGGGAGTGA	0.554													7	583	---	---	---	---					
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1042-1047)tcggggfs	p.SG348fs	PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	348	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401													7	422	---	---	---	---					
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)gggfs	p.G76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579													10	177	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:35600370_35600371insG	ENST00000353139.5	-	22	3328_3329	c.2847_2848insC	c.(2845-2850)ccatgtfs	p.C950fs	ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.470													9	969	---	---	---	---					
KRT26	353288	broad.mit.edu	37	17	38926341	38926342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:38926341_38926342insC	ENST00000335552.4	-	4	762_763	c.714_715insG	c.(712-717)ggacgtfs	p.R239fs		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	239	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				ACGTTCACGTTCCCCCCAGCTG	0.480													7	478	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:50008356_50008357insC	ENST00000451037.2	-	3	1212_1213	c.272_273insG	c.(271-273)gagfs	p.E91fs	CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TTACCTTCCTGCCCCCCGTGTT	0.490													20	1238	---	---	---	---					
SMARCD2	6603	broad.mit.edu	37	17	61914346	61914346	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:61914346delT	ENST00000448276.2	-	4	768	c.503delA	c.(502-504)agfs	p.K168fs	SMARCD2_ENST00000323347.10_Frame_Shift_Del_p.K120fs|SMARCD2_ENST00000225742.9_Frame_Shift_Del_p.K93fs	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	168					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CTGGTCCAGCTTCCGCTCAAA	0.547													10	64	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													27	1275	---	---	---	---					
MYOM1	8736	broad.mit.edu	37	18	3142039	3142040	+	Frame_Shift_Ins	INS	-	-	G	rs138431527	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:3142039_3142040insG	ENST00000400569.3	-	14	2255_2256	c.1922_1923insC	c.(1921-1923)cacfs	p.H641fs	MYOM1_ENST00000356443.4_Frame_Shift_Ins_p.H641fs|MYOM1_ENST00000261606.7_Frame_Shift_Ins_p.H641fs			P52179	MYOM1_HUMAN	myomesin 1	641	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle	p.P641Q(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAGGTCTGTCGGGGGGCCAGG	0.545													7	272	---	---	---	---					
DSC3	1825	broad.mit.edu	37	18	28576866	28576867	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:28576866_28576867insC	ENST00000434452.1	-	15	2537_2538	c.2383_2384insG	c.(2383-2385)tggfs	p.W795fs	DSC3_ENST00000360428.4_Frame_Shift_Ins_p.W795fs	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	795					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATGATGCCCAGCCCCCCGGCAG	0.515													8	156	---	---	---	---					
MYO5B	4645	broad.mit.edu	37	18	47463659	47463659	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:47463659delT	ENST00000285039.7	-	15	2160	c.1861delA	c.(1861-1863)tgfs	p.M621fs		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	621	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGACTTTCATGGGGGGTCTG	0.572													101	757	---	---	---	---					
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)ccagtcfs	p.V891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AACGAGGACTTGGGGGGGATGG	0.574													10	178	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)ccaaccfs	p.T130fs	DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495													8	96	---	---	---	---					
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:11488680_11488681insG	ENST00000222139.6	-	8	1610_1611	c.1506_1507insC	c.(1504-1509)ccgctafs	p.L503fs	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	503						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCCACATAGCTGGGGGGCAGAG	0.569											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	456	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:17039883_17039884insC	ENST00000443236.1	-	24	3184_3185	c.3153_3154insG	c.(3151-3156)ggatcafs	p.S1052fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1005						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.H1052fs*30(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584													8	90	---	---	---	---					
ZNF91	7644	broad.mit.edu	37	19	23543836	23543837	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:23543836_23543837delTA	ENST00000300619.7	-	4	2149_2150	c.1944_1945delTA	c.(1942-1947)caagfs	p.HK648fs	ZNF91_ENST00000397082.2_Frame_Shift_Del_p.HK616fs|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	648						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGAATTCTCTTATGTTTAGCAA	0.386													10	92	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)gtafs	p.V546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559													20	270	---	---	---	---					
KIRREL2	84063	broad.mit.edu	37	19	36349458	36349458	+	Splice_Site	DEL	G	G	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:36349458delG	ENST00000360202.5	+	3	558	c.361_splice	c.e3+1	p.L120_splice	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Splice_Site_p.L120_splice|KIRREL2_ENST00000586102.2_Splice_Site_p.L120_splice|KIRREL2_ENST00000347900.6_Splice_Site_p.L70_splice|KIRREL2_ENST00000262625.7_Splice_Site_p.L120_splice	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	120					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCACGTGCTGGGTAAGGACC	0.602													24	58	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:43439519_43439520insC	ENST00000446844.3	-	0	520				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													13	822	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													10	361	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)ggctggfs	p.W15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCACCAGTCCCCCCCAGGG	0.653													12	110	---	---	---	---					
HSPA12B	116835	broad.mit.edu	37	20	3722946	3722947	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:3722946_3722947insC	ENST00000254963.2	+	4	302_303	c.157_158insC	c.(157-159)cccfs	p.P53fs	HSPA12B_ENST00000542646.1_Intron	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	53							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CGAGGTCCGAGCCCCCCAGCAG	0.594													7	814	---	---	---	---					
FERMT1	55612	broad.mit.edu	37	20	6091014	6091015	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:6091014_6091015insG	ENST00000217289.4	-	5	1464_1465	c.676_677insC	c.(676-678)gtcfs	p.V226fs	FERMT1_ENST00000536936.1_Intron	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	226	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTCTGGGGACTGGGGGGGTTGG	0.530													8	153	---	---	---	---					
PAK7	57144	broad.mit.edu	37	20	9546606	9546606	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:9546606delC	ENST00000378429.3	-	6	1962	c.1416delG	c.(1414-1416)ggfs	p.G472fs	PAK7_ENST00000378423.1_Frame_Shift_Del_p.G472fs|PAK7_ENST00000353224.5_Frame_Shift_Del_p.G472fs	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	472	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAACTTGTTTCCCTGTGTGTT	0.498													215	362	---	---	---	---					
KIF16B	55614	broad.mit.edu	37	20	16407830	16407831	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:16407830_16407831insC	ENST00000354981.2	-	15	1687_1688	c.1530_1531insG	c.(1528-1533)ggcagtfs	p.S511fs	KIF16B_ENST00000355755.3_Frame_Shift_Ins_p.S511fs|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Frame_Shift_Ins_p.S511fs	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	511	FHA.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGAGTCACTGTCCCCCCGATAT	0.431													7	1006	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													16	434	---	---	---	---					
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:30737490_30737491insC	ENST00000217315.5	+	10	1297_1298	c.957_958insC	c.(955-960)agccccfs	p.SP319fs	TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	336						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604													7	73	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													35	451	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)ccaaagfs	p.PK775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGGCTTTTGGGGGGGCTGG	0.545													41	668	---	---	---	---					
TSHZ2	128553	broad.mit.edu	37	20	51872444	51872445	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:51872444_51872445insC	ENST00000371497.5	+	2	3334_3335	c.2447_2448insC	c.(2446-2448)gccfs	p.A816fs	TSHZ2_ENST00000603338.2_Frame_Shift_Ins_p.A813fs|TSHZ2_ENST00000329613.6_Frame_Shift_Ins_p.A813fs	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	816					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCCTCCAGGGTCCCCCCCATGA	0.550													9	183	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(463-468)gtccccfs	p.VP155fs	ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	155					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525													9	274	---	---	---	---					
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381													7	180	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:40681766_40681767insC	ENST00000454349.2	+	12	3911_3912	c.3700_3701insC	c.(3700-3702)cccfs	p.P1234fs	TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1234					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCAGTTTATTTCCCCCCAGGTA	0.450													10	483	---	---	---	---					
CYP2D6	1565	broad.mit.edu	37	22	42524213	42524214	+	Frame_Shift_Ins	INS	-	-	G	rs72549352		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:42524213_42524214insG	ENST00000360608.5	-	5	919_920	c.805_806insC	c.(805-807)agafs	p.R269fs	CYP2D6_ENST00000389970.3_Frame_Shift_Ins_p.R269fs|CYP2D6_ENST00000359033.4_Frame_Shift_Ins_p.R218fs|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	269							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTCAGGTCTCGGGGGGGCTGG	0.629													4	8	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	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						GCTGCTCCCCTGGGGGGGTCCA	0.564													34	625	---	---	---	---					
MAGEB1	4112	broad.mit.edu	37	X	30269510	30269510	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:30269510delC	ENST00000378981.3	+	4	1221	c.900delC	c.(898-900)ttfs	p.F300fs	MAGEB1_ENST00000397550.1_Frame_Shift_Del_p.F300fs|MAGEB1_ENST00000397548.2_Frame_Shift_Del_p.F300fs	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	300	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCCGTGACTTCCCATCCCATT	0.512													77	217	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:48159107_48159108insG	ENST00000376909.1	-	6	487_488	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.490													10	461	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)acafs	p.T161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.480													11	891	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495													9	491	---	---	---	---					
OPHN1	4983	broad.mit.edu	37	X	67283963	67283964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:67283963_67283964insG	ENST00000355520.5	-	21	2531_2532	c.1890_1891insC	c.(1888-1893)ccagccfs	p.A631fs	OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	631	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGTGGTGGCTTGGGGGGTTCTA	0.475													9	746	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:73963268_73963269insC	ENST00000373468.1	-	3	1774_1775	c.1123_1124insG	c.(1123-1125)ggafs	p.G375fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs			Q5QGS0	K2022_HUMAN	KIAA2022	375					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						TTTATCTTCCTCCCCCCAGATG	0.475													16	1053	---	---	---	---					
KLHL4	56062	broad.mit.edu	37	X	86890716	86890717	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:86890716_86890717insG	ENST00000373119.4	+	9	2011_2012	c.1866_1867insG	c.(1864-1869)gtggggfs	p.VG622fs	KLHL4_ENST00000373114.4_Frame_Shift_Ins_p.VG622fs	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	622						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.H625fs*2(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TATATGTTGTAGGGGGGCATGA	0.441													9	388	---	---	---	---					
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)cccfs	p.P310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564													7	333	---	---	---	---					
KIAA1210	57481	broad.mit.edu	37	X	118222495	118222496	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:118222495_118222496insA	ENST00000402510.2	-	11	2696_2697	c.2697_2698insT	c.(2695-2700)ccaagafs	p.R900fs		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	900										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTCTGCTCTTCAGGAGTATTAT	0.505													25	25	---	---	---	---					
BCORL1	63035	broad.mit.edu	37	X	129146962	129146963	+	Frame_Shift_Ins	INS	-	-	G	rs141901231	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:129146962_129146963insG	ENST00000540052.1	+	3	258_259	c.214_215insG	c.(214-216)gggfs	p.G72fs	BCORL1_ENST00000218147.7_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.G72fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	72					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGCAATGCCCGGGGGGCAGAC	0.569													7	511	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)ggtfs	p.G308fs	MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535													31	586	---	---	---	---					
GPR112	139378	broad.mit.edu	37	X	135426885	135426886	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:135426885_135426886insA	ENST00000394143.1	+	6	1311_1312	c.1020_1021insA	c.(1018-1023)ataaaafs	p.IK340fs	GPR112_ENST00000412101.1_Frame_Shift_Ins_p.IK135fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.IK135fs|GPR112_ENST00000370652.1_Frame_Shift_Ins_p.IK340fs|GPR112_ENST00000287534.4_Frame_Shift_Ins_p.IK277fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	340					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCAATTCCATGAAAAAAACGAA	0.386													8	1184	---	---	---	---					
AFF2	2334	broad.mit.edu	37	X	147733547	147733548	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:147733547_147733548insA	ENST00000370460.2	+	2	554_555	c.75_76insA	c.(73-78)ctaaaafs	p.LK25fs	AFF2_ENST00000342251.3_Frame_Shift_Ins_p.LK25fs|AFF2_ENST00000370457.5_Frame_Shift_Ins_p.LK25fs|AFF2_ENST00000370458.1_Frame_Shift_Ins_p.LK25fs	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	25					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTAGTGCACTTAAAAAAAGGGA	0.376													8	773	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													8	673	---	---	---	---					
GAB3	139716	broad.mit.edu	37	X	153940634	153940635	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:153940634_153940635insG	ENST00000369575.3	-	4	966_967	c.935_936insC	c.(934-936)caafs	p.Q312fs	GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Frame_Shift_Ins_p.Q313fs	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	312										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGCTTGGCTTAGGGGGGCGGGG	0.495													7	427	---	---	---	---					
ASB17	127247	broad.mit.edu	37	1	76384701	76384701	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:76384701delG	ENST00000284142.6	-	3	963	c.824delC	c.(823-825)cafs	p.P275fs		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	275	SOCS box.				intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TATTCCATCTGGGAGCATATT	0.338													17	144	---	---	---	---					
COL11A1	1301	broad.mit.edu	37	1	103404607	103404607	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:103404607delC	ENST00000358392.2	-	44	3775	c.3458delG	c.(3457-3459)gtfs	p.G1153fs	COL11A1_ENST00000370096.3_Frame_Shift_Del_p.G1141fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G1025fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G1102fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1141	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)		TCCCTTGTCACCCTTGCTGCC	0.338													20	204	---	---	---	---					
ATP1A2	477	broad.mit.edu	37	1	160085661	160085662	+	Splice_Site	DEL	GG	GG	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:160085661_160085662delGG	ENST00000361216.3	+	1	99_100	c.12_splice	c.e1+1	p.G4_splice	ATP1A2_ENST00000392233.3_Splice_Site_p.G4_splice|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	4					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GATGGGCCGTGGGGTGAGTATC	0.624													8	17	---	---	---	---					
HMCN1	83872	broad.mit.edu	37	1	185956655	185956656	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr1:185956655_185956656insC	ENST00000271588.4	+	20	3256_3257	c.3027_3028insC	c.(3025-3030)aacgtcfs	p.V1010fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.V1010fs|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1010	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAATCCCAAACCGTCTGTCAT	0.436													127	172	---	---	---	---					
GRIP2	80852	broad.mit.edu	37	3	14555758	14555759	+	RNA	INS	-	-	AGTT	rs10656368	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:14555758_14555759insAGTT	ENST00000273083.3	-	0	1558							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CAGTTTCTCTCAGAGAGTGGCA	0.579													4	4	---	---	---	---					
SMARCC1	6599	broad.mit.edu	37	3	47632266	47632266	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr3:47632266delG	ENST00000254480.5	-	27	3224	c.3105delC	c.(3103-3105)ccfs	p.P1035fs	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	1035	Pro-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTGCAACAGTGGGAATCATGC	0.567													18	110	---	---	---	---					
PCDHGA5	56110	broad.mit.edu	37	5	140745002	140745002	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:140745002delT	ENST00000518069.1	+	1	1105	c.1105delT	c.(1105-1107)ttfs	p.F369fs	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCGCGCTGTTTAGCGTACA	0.443													21	68	---	---	---	---					
ERGIC1	57222	broad.mit.edu	37	5	172342029	172342030	+	Frame_Shift_Ins	INS	-	-	T	rs66707194	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr5:172342029_172342030insT	ENST00000326654.2	+	3	643_644	c.428_429insT	c.(427-429)gttfs	p.V143fs	ERGIC1_ENST00000523291.1_Intron|ERGIC1_ENST00000393784.3_Intron			Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	0					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTCCCTGGGGTTTTAAGCCCC	0.609													3	5	---	---	---	---					
RXRB	6257	broad.mit.edu	37	6	33164224	33164224	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:33164224delC	ENST00000374680.3	-	5	1191	c.980delG	c.(979-981)gtfs	p.G327fs	RXRB_ENST00000544186.1_Frame_Shift_Del_p.G137fs|RXRB_ENST00000374685.4_Frame_Shift_Del_p.G327fs|RXRB_ENST00000413614.2_Frame_Shift_Del_p.G231fs	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	327	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GCTGCCGCTACCCCCGGTTCC	0.622													75	352	---	---	---	---					
EEF1A1	1915	broad.mit.edu	37	6	74229134	74229136	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr6:74229134_74229136delTGC	ENST00000316292.9	-	2	1239_1241	c.248_250delGCA	c.(247-252)aag>a	p.SK83del	EEF1A1_ENST00000309268.6_In_Frame_Del_p.SK83del|EEF1A1_ENST00000331523.2_In_Frame_Del_p.SK83del|EEF1A1_ENST00000491404.1_5'UTR	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	83				S -> A (in Ref. 6; CAA27325).		cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACATAGTACTTGCTGGTCTCAAA	0.429											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	24	119	---	---	---	---					
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:70509285_70509286delGA	ENST00000265872.6	+	10	1080_1081	c.961_962delGA	c.(961-963)gfs	p.E321fs	CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	321	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTCAGTCGTGAGAGAGAGAGA	0.391													7	77	---	---	---	---					
GRID1	2894	broad.mit.edu	37	10	87407105	87407105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:87407105delG	ENST00000327946.7	-	13	2132	c.2047delC	c.(2047-2049)ggfs	p.R683fs	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Frame_Shift_Del_p.R254fs	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	683						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCAGAATCCCGGACAGTGCCA	0.532										Multiple Myeloma(13;0.14)			73	515	---	---	---	---					
CYP2C18	1562	broad.mit.edu	37	10	96480183	96480184	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr10:96480183_96480184insT	ENST00000285979.6	+	6	1049_1050	c.850_851insT	c.(850-852)tgafs	p.*284fs	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Frame_Shift_Ins_p.*225fs	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TGAATTTACTGTTGAAAGCTTG	0.361													20	52	---	---	---	---					
OR4P4	81300	broad.mit.edu	37	11	55406728	55406728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:55406728delG	ENST00000314612.2	+	1	895	c.895delG	c.(895-897)tgfs	p.V299fs		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CATGAGGAAAGTGTGGTGTTG	0.393													47	71	---	---	---	---					
LRRC32	2615	broad.mit.edu	37	11	76371428	76371429	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr11:76371428_76371429insG	ENST00000407242.2	-	3	1450_1451	c.1208_1209insC	c.(1207-1209)ctafs	p.L403fs	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Frame_Shift_Ins_p.L403fs|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Frame_Shift_Ins_p.L403fs	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	403						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAAAGGTGTATGGGGGCAGGTC	0.663													9	24	---	---	---	---					
UTP20	27340	broad.mit.edu	37	12	101727153	101727153	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr12:101727153delG	ENST00000261637.4	+	28	3666	c.3492delG	c.(3490-3492)ttfs	p.L1164fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1164					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATATCTTTTTGGACTGGGAAT	0.348													54	130	---	---	---	---					
ALDH1A2	8854	broad.mit.edu	37	15	58256170	58256177	+	Frame_Shift_Del	DEL	ATAGATGG	ATAGATGG	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr15:58256170_58256177delATAGATGG	ENST00000249750.4	-	9	1759_1766	c.992_999delCCATCTAT	c.(991-999)tfs	p.SIY331fs	ALDH1A2_ENST00000559517.1_Frame_Shift_Del_p.SIY235fs|ALDH1A2_ENST00000537372.1_Frame_Shift_Del_p.SIY310fs|ALDH1A2_ENST00000347587.3_Frame_Shift_Del_p.SIY293fs|ALDH1A2_ENST00000558231.1_Frame_Shift_Del_p.SIY302fs	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	331					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CAAACTCCTCATAGATGGACTCCTCCAC	0.562													20	95	---	---	---	---					
ZG16B	124220	broad.mit.edu	37	16	2882139	2882139	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:2882139delA	ENST00000382280.3	+	4	685	c.606delA	c.(604-606)gcfs	p.A202fs	ZG16B_ENST00000572863.1_Frame_Shift_Del_p.A172fs	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	202						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CATACTCAGCAAACTCACCCG	0.552													122	114	---	---	---	---					
MEFV	4210	broad.mit.edu	37	16	3293233	3293233	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:3293233delG	ENST00000219596.1	-	10	2293	c.2254delC	c.(2254-2256)ttfs	p.L752fs	MEFV_ENST00000339854.4_Frame_Shift_Del_p.L572fs|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Frame_Shift_Del_p.L541fs	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	752	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	ATAGGTTGAAGGGGCCCAGAG	0.532													95	85	---	---	---	---					
ZNF423	23090	broad.mit.edu	37	16	49669923	49669923	+	Frame_Shift_Del	DEL	G	G	-	rs111229124	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr16:49669923delG	ENST00000561648.1	-	4	3193	c.3140delC	c.(3139-3141)ggfs	p.A1047fs	ZNF423_ENST00000262383.2_Frame_Shift_Del_p.A1047fs|ZNF423_ENST00000535559.1_Frame_Shift_Del_p.A930fs|ZNF423_ENST00000562871.1_Frame_Shift_Del_p.A987fs|ZNF423_ENST00000562520.1_Frame_Shift_Del_p.A987fs|ZNF423_ENST00000563137.2_Frame_Shift_Del_p.A987fs|ZNF423_ENST00000567169.1_Frame_Shift_Del_p.A930fs	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1047					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)				TGAGCTGCCCGCCAGCTTCTG	0.617													8	60	---	---	---	---					
SMARCD2	6603	broad.mit.edu	37	17	61914346	61914346	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr17:61914346delT	ENST00000448276.2	-	4	768	c.503delA	c.(502-504)agfs	p.K168fs	SMARCD2_ENST00000225742.9_Frame_Shift_Del_p.K93fs|SMARCD2_ENST00000323347.10_Frame_Shift_Del_p.K120fs	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	168					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CTGGTCCAGCTTCCGCTCAAA	0.547													10	165	---	---	---	---					
MYO5B	4645	broad.mit.edu	37	18	47463659	47463659	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr18:47463659delT	ENST00000285039.7	-	15	2160	c.1861delA	c.(1861-1863)tgfs	p.M621fs		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	621	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGACTTTCATGGGGGGTCTG	0.572													23	237	---	---	---	---					
ZNF91	7644	broad.mit.edu	37	19	23543836	23543837	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:23543836_23543837delTA	ENST00000300619.7	-	4	2149_2150	c.1944_1945delTA	c.(1942-1947)caagfs	p.HK648fs	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Frame_Shift_Del_p.HK616fs	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	648						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGAATTCTCTTATGTTTAGCAA	0.386													11	139	---	---	---	---					
KIRREL2	84063	broad.mit.edu	37	19	36349458	36349458	+	Splice_Site	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr19:36349458delG	ENST00000360202.5	+	3	558	c.361_splice	c.e3+1	p.L120_splice	KIRREL2_ENST00000262625.7_Splice_Site_p.L120_splice|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Splice_Site_p.L120_splice|KIRREL2_ENST00000592409.1_Splice_Site_p.L120_splice|KIRREL2_ENST00000347900.6_Splice_Site_p.L70_splice	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	120					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCACGTGCTGGGTAAGGACC	0.602													42	85	---	---	---	---					
PAK7	57144	broad.mit.edu	37	20	9546606	9546606	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chr20:9546606delC	ENST00000378429.3	-	6	1962	c.1416delG	c.(1414-1416)ggfs	p.G472fs	PAK7_ENST00000378423.1_Frame_Shift_Del_p.G472fs|PAK7_ENST00000353224.5_Frame_Shift_Del_p.G472fs	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	472	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAACTTGTTTCCCTGTGTGTT	0.498													112	238	---	---	---	---					
MAGEB1	4112	broad.mit.edu	37	X	30269510	30269510	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:30269510delC	ENST00000378981.3	+	4	1221	c.900delC	c.(898-900)ttfs	p.F300fs	MAGEB1_ENST00000397548.2_Frame_Shift_Del_p.F300fs|MAGEB1_ENST00000397550.1_Frame_Shift_Del_p.F300fs	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	300	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCCGTGACTTCCCATCCCATT	0.512													17	99	---	---	---	---					
KIAA1210	57481	broad.mit.edu	37	X	118222495	118222496	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	c5442deb-cf98-478d-9c0b-d117b1e8094e	g.chrX:118222495_118222496insA	ENST00000402510.2	-	11	2696_2697	c.2697_2698insT	c.(2695-2700)ccaagafs	p.R900fs		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	900										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTCTGCTCTTCAGGAGTATTAT	0.505													30	36	---	---	---	---					
VPS13D	55187	broad.mit.edu	37	1	12343652	12343653	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:12343652_12343653insT	ENST00000358136.3	+	21	5623_5624	c.5493_5494insT	c.(5491-5496)gattttfs	p.DF1831fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.DF1831fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1831					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGATATTAGACTTTTTTGGAAT	0.470													8	1217	---	---	---	---					
HNRNPCL1	343069	broad.mit.edu	37	1	12907414	12907415	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:12907414_12907415insC	ENST00000317869.6	-	2	953_954	c.728_729insG	c.(727-729)ggcfs	p.G243fs		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AGTCTTCTGCACCCCCCTCAGA	0.480													7	296	---	---	---	---					
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)cacfs	p.H937fs	LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTATTCGAGTTGGGGGGTCTTC	0.495													14	913	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													19	707	---	---	---	---					
KHDRBS1	10657	broad.mit.edu	37	1	32503458	32503459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:32503458_32503459insG	ENST00000327300.7	+	6	1095_1096	c.928_929insG	c.(928-930)gggfs	p.G310fs	KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	310	Arg/Gly-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGACCACCTCGGGGGGCTTTG	0.500													11	336	---	---	---	---					
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:32673442_32673443insG	ENST00000537469.1	+	5	1447_1448	c.1400_1401insG	c.(1399-1401)tggfs	p.W467fs	IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.550													7	115	---	---	---	---					
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)aaafs	p.K304fs	ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs|ZMYND12_ENST00000475426.1_5'UTR	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411													7	473	---	---	---	---					
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:44878032_44878033insC	ENST00000355387.2	+	2	713_714	c.263_264insC	c.(262-264)tccfs	p.S88fs	RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	88					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AATCGTGATTTCCCCCCTTCTC	0.515													12	928	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													21	339	---	---	---	---					
CACHD1	57685	broad.mit.edu	37	1	65157116	65157117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:65157116_65157117insC	ENST00000371073.2	+	27	3697_3698	c.3697_3698insC	c.(3697-3699)cccfs	p.P1233fs	CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1182fs|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1233					calcium ion transport	integral to membrane		p.Q1185fs*23(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACCTGGATACCCCCCCTCAG	0.554													10	314	---	---	---	---					
C1orf173	127254	broad.mit.edu	37	1	75039097	75039098	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:75039097_75039098insT	ENST00000326665.5	-	14	2514_2515	c.2296_2297insA	c.(2296-2298)gtafs	p.V766fs	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	766	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAGTGTATACGTTTTTTGCACC	0.441													9	629	---	---	---	---					
LRRC8C	84230	broad.mit.edu	37	1	90179646	90179647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:90179646_90179647insC	ENST00000370454.4	+	3	1772_1773	c.1517_1518insC	c.(1516-1518)cccfs	p.P506fs	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	506						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATGAGGGAACTCCCCCCCTGGA	0.500													9	168	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													37	544	---	---	---	---					
ABCA4	24	broad.mit.edu	37	1	94466663	94466664	+	Splice_Site	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:94466663_94466664insG	ENST00000370225.3	-	46	6369		c.e46-2		ABCA4_ENST00000535881.1_Splice_Site|ABCA4_ENST00000536513.1_Splice_Site	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4						phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGCTCATCCTGGGGGGTGGAG	0.629													8	259	---	---	---	---					
COL11A1	1301	broad.mit.edu	37	1	103404607	103404607	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:103404607delC	ENST00000358392.2	-	44	3775	c.3458delG	c.(3457-3459)gtfs	p.G1153fs	COL11A1_ENST00000370096.3_Frame_Shift_Del_p.G1141fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G1102fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G1025fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1141	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)		TCCCTTGTCACCCTTGCTGCC	0.338													45	464	---	---	---	---					
COL11A1	1301	broad.mit.edu	37	1	103491427	103491428	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:103491427_103491428insG	ENST00000358392.2	-	6	1178_1179	c.861_862insC	c.(859-864)ccaatcfs	p.I288fs	COL11A1_ENST00000370096.3_Intron|COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000512756.1_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	290	Nonhelical 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	p.P287P(1)		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)		TTTTCAGATTTGGGGGGTGTAA	0.342													7	157	---	---	---	---					
CLCC1	23155	broad.mit.edu	37	1	109479967	109479968	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:109479967_109479968insG	ENST00000369971.2	-	10	1243_1244	c.1114_1115insC	c.(1114-1116)ggcfs	p.G372fs	CLCC1_ENST00000415331.1_Frame_Shift_Ins_p.G322fs|CLCC1_ENST00000369968.2_Frame_Shift_Ins_p.G187fs|CLCC1_ENST00000369969.2_Frame_Shift_Ins_p.G251fs|CLCC1_ENST00000369970.3_Frame_Shift_Ins_p.G322fs|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Frame_Shift_Ins_p.G372fs|CLCC1_ENST00000348264.2_Frame_Shift_Ins_p.G187fs|CLCC1_ENST00000302500.4_Frame_Shift_Ins_p.G251fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	372						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CCGAAGTGCCTGGGGAGGTTCG	0.490													7	603	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													52	835	---	---	---	---					
FAM212B	55924	broad.mit.edu	37	1	112269924	112269925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:112269924_112269925insC	ENST00000357260.5	-	2	740_741	c.559_560insG	c.(559-561)acgfs	p.T187fs	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.T172fs	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	187										cervix(1)|endometrium(1)	2						GGGTTCACGTGCCCCCCCAGTC	0.579													13	208	---	---	---	---					
AP4B1	10717	broad.mit.edu	37	1	114442681	114442682	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:114442681_114442682insA	ENST00000369569.1	-	5	1238_1239	c.958_959insT	c.(958-960)ctcfs	p.L320fs	AP4B1_ENST00000369566.3_Frame_Shift_Ins_p.L227fs|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Frame_Shift_Ins_p.L152fs|AP4B1_ENST00000256658.4_Frame_Shift_Ins_p.L320fs	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	320					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAGTAGGAGCAAAAAAACTTT	0.470													8	683	---	---	---	---					
HIPK1	204851	broad.mit.edu	37	1	114515697	114515698	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:114515697_114515698insC	ENST00000369558.1	+	16	3428_3429	c.3196_3197insC	c.(3196-3198)cccfs	p.P1066fs	HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.P672fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.P692fs|HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.P672fs|HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.P1021fs|HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.P1021fs|HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.P1032fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.P1066fs			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1066	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCAACCCAGCCCCCCGCAGG	0.614													7	274	---	---	---	---					
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:114523958_114523959insC	ENST00000369551.1	+	4	1016_1017	c.728_729insC	c.(727-729)accfs	p.T243fs	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559													8	339	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													14	515	---	---	---	---					
TARS2	80222	broad.mit.edu	37	1	150477198	150477199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:150477198_150477199insG	ENST00000369064.3	+	15	1843_1844	c.1809_1810insG	c.(1807-1812)tgggggfs	p.WG603fs	TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs|TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	603					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.C603C(2)|p.G604W(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAAGCTGCGGGGGGAAATG	0.569													10	378	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(421-426)ttggggfs	p.LG141fs	HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	141	Involved in HCLS1 binding.		F -> L (in SCN3; mild form).			actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome				8	244	---	---	---	---					
ISG20L2	81875	broad.mit.edu	37	1	156694022	156694023	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:156694022_156694023insG	ENST00000313146.6	-	2	1647_1648	c.865_866insC	c.(865-867)caafs	p.Q289fs	ISG20L2_ENST00000472824.1_5'UTR|ISG20L2_ENST00000368219.1_Frame_Shift_Ins_p.Q289fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCGGTTGAGGGGGGGGATA	0.559													11	111	---	---	---	---					
KIRREL	55243	broad.mit.edu	37	1	158058202	158058203	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:158058202_158058203insC	ENST00000368172.1	+	4	408_409	c.396_397insC	c.(394-399)aaccccfs	p.NP132fs	KIRREL_ENST00000359209.6_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.NP170fs|KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.NP234fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.NP231fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	334	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGTTGGGAATCCCCCCCTCAC	0.455													7	295	---	---	---	---					
RCSD1	92241	broad.mit.edu	37	1	167654710	167654711	+	Frame_Shift_Ins	INS	-	-	C	rs144007158	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:167654710_167654711insC	ENST00000367854.3	+	3	492_493	c.161_162insC	c.(160-162)tccfs	p.S54fs	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	54										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTCCCCCTGTTCCCCCCCAAGG	0.554													10	171	---	---	---	---					
MRPS14	63931	broad.mit.edu	37	1	174983953	174983954	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:174983953_174983954insG	ENST00000476371.1	-	3	254_255	c.238_239insC	c.(238-240)ggafs	p.G80fs	MRPS14_ENST00000498253.1_5'UTR	NM_022100.2	NP_071383.1	O60783	RT14_HUMAN	mitochondrial ribosomal protein S14	80					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						ACAGCTATCCCGGGGGAGGGCA	0.485													8	754	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1224)cggfs	p.R408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L408fs*49(2)|p.L408L(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTTGCTCCTGGGGGGAGACA	0.574													8	610	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181549749	181549750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:181549749_181549750insC	ENST00000526775.1	+	6	953_954	c.788_789insC	c.(787-789)gccfs	p.A263fs	CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367573.2_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A263fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	263					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGATTTGACCCCCCTCACC	0.505													17	1138	---	---	---	---					
COLGALT2	23127	broad.mit.edu	37	1	183938467	183938468	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:183938467_183938468insG	ENST00000361927.4	-	5	1138_1139	c.767_768insC	c.(766-768)ccafs	p.P256fs	COLGALT2_ENST00000546159.1_Frame_Shift_Ins_p.P256fs	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		AGTCCTGGTGTGGGGGGTAGAA	0.535													7	500	---	---	---	---					
HMCN1	83872	broad.mit.edu	37	1	185956655	185956656	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:185956655_185956656insC	ENST00000271588.4	+	20	3256_3257	c.3027_3028insC	c.(3025-3030)aacgtcfs	p.V1010fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.V1010fs|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1010	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAATCCCAAACCGTCTGTCAT	0.436													198	366	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4501-4506)gaccccfs	p.DP1501fs	NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1501					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						TGGATGCAGAGCCCCCCGAGAT	0.525													8	410	---	---	---	---					
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cacfs	p.H287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624													11	201	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													23	475	---	---	---	---					
TARBP1	6894	broad.mit.edu	37	1	234556531	234556532	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:234556531_234556532insT	ENST00000040877.1	-	21	3470_3471	c.3471_3472insA	c.(3469-3474)aagctafs	p.L1158fs		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1158					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACATAGTAGCGTTTTTTGGACT	0.366													8	721	---	---	---	---					
ASAP2	8853	broad.mit.edu	37	2	9463277	9463278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:9463277_9463278insC	ENST00000281419.3	+	6	838_839	c.498_499insC	c.(496-501)gaacgcfs	p.ER166fs	ASAP2_ENST00000315273.4_Frame_Shift_Ins_p.ER166fs	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	166					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AGAAAAAGGAACACGCCAAGCT	0.495													15	281	---	---	---	---					
RASGRP3	25780	broad.mit.edu	37	2	33749069	33749070	+	Frame_Shift_Ins	INS	-	-	C	rs35406835		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:33749069_33749070insC	ENST00000403687.3	+	8	1380_1381	c.640_641insC	c.(640-642)cccfs	p.P214fs	RASGRP3_ENST00000407811.1_Frame_Shift_Ins_p.P214fs|RASGRP3_ENST00000402538.3_Frame_Shift_Ins_p.P214fs	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	214	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TAGCAAACCAACCCCCCAGCAA	0.431													11	955	---	---	---	---					
SLC8A1	6546	broad.mit.edu	37	2	40366704	40366705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:40366704_40366705insG	ENST00000406785.1	-	7	2462_2463	c.2273_2274insC	c.(2272-2274)cacfs	p.H758fs	SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	794					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTATTCAGTAGGGGGGACGAA	0.515													8	496	---	---	---	---					
MSH6	2956	broad.mit.edu	37	2	48030796	48030797	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:48030796_48030797insG	ENST00000234420.4	+	5	3562_3563	c.3410_3411insG	c.(3409-3411)aggfs	p.R1137fs	MSH6_ENST00000538136.1_Frame_Shift_Ins_p.R835fs|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Frame_Shift_Ins_p.R1007fs	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1137					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGACCAAATATGGGGGGCAAGT	0.376			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	695	---	---	---	---					
LHCGR	3973	broad.mit.edu	37	2	48915172	48915172	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:48915172delA	ENST00000294954.7	-	11	1785	c.1764delT	c.(1762-1764)ttfs	p.F588fs	LHCGR_ENST00000405626.1_Frame_Shift_Del_p.F561fs|LHCGR_ENST00000403273.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Frame_Shift_Del_p.F526fs	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	588					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CTGAGATGGCAAAAAAAGAGA	0.383													7	543	---	---	---	---					
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)cccfs	p.P442fs		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma				9	426	---	---	---	---					
LOXL3	84695	broad.mit.edu	37	2	74763923	74763924	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:74763923_74763924insC	ENST00000264094.3	-	5	895_896	c.824_825insG	c.(823-825)gccfs	p.A275fs	LOXL3_ENST00000409549.1_Frame_Shift_Ins_p.A275fs|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409249.1_Frame_Shift_Ins_p.A275fs|LOXL3_ENST00000409986.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	275	SRCR 2.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	p.A277fs*57(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCACTGCAGGGCCCCCCCCAGG	0.649													15	103	---	---	---	---					
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	RNA	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1																						AAAATAAATTTCCCCCCAGAAC	0.455													12	536	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89083951	89083951	+	RNA	DEL	A	A	-	rs111608027		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:89083951delA	ENST00000393525.3	+	0	576																											CTTTTTTTTCAGTGTATTTCT	0.348													2	4	---	---	---	---					
EDAR	10913	broad.mit.edu	37	2	109539836	109539837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:109539836_109539837insG	ENST00000409271.1	-	6	872_873	c.429_430insC	c.(427-432)ccacacfs	p.H144fs	EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	144					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCCTTGGTGTTGGGGGGTGCCA	0.535													8	354	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													9	111	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2334)cccfs	p.P778fs	ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455													8	168	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													17	250	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	55	---	---	---	---					
KCNH8	131096	broad.mit.edu	37	3	19554727	19554728	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:19554727_19554728insC	ENST00000328405.2	+	13	2611_2612	c.2345_2346insC	c.(2344-2346)gccfs	p.A782fs		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	782						integral to membrane	two-component sensor activity	p.N785fs*3(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGGAAATTGACCCCCCCAACC	0.470													9	122	---	---	---	---					
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)cccfs	p.P495fs	MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.470		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				13	860	---	---	---	---					
SFMBT1	51460	broad.mit.edu	37	3	52962211	52962212	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:52962211_52962212insG	ENST00000394752.3	-	9	1425_1426	c.1043_1044insC	c.(1042-1044)cccfs	p.P348fs	SFMBT1_ENST00000394750.1_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000358080.2_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000296295.6_Frame_Shift_Ins_p.P348fs	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	348					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GTGCACCTGGAGGGGGGCTGAT	0.530													11	709	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													9	350	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:87018182_87018183insC	ENST00000398399.2	-	3	857_858	c.494_495insG	c.(493-495)ggtfs	p.G165fs	VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGGATGAACTCCCCCCAAACA	0.579													8	351	---	---	---	---					
MORC1	27136	broad.mit.edu	37	3	108819313	108819314	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:108819313_108819314insT	ENST00000232603.5	-	5	346_347	c.264_265insA	c.(262-267)aaggctfs	p.A89fs	MORC1_ENST00000483760.1_Frame_Shift_Ins_p.A89fs	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	89					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.R89W(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTTGACAGCCGTTTTTTGGATC	0.406													9	1146	---	---	---	---					
IGSF11	152404	broad.mit.edu	37	3	118647520	118647521	+	Frame_Shift_Ins	INS	-	-	G	rs145433873	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:118647520_118647521insG	ENST00000354673.2	-	5	636_637	c.256_257insC	c.(256-258)gttfs	p.V86fs	IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000393775.2_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000491903.1_Frame_Shift_Ins_p.V87fs	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	87	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCGTGGAACCGGGGGGCACCA	0.465													7	616	---	---	---	---					
PDIA5	10954	broad.mit.edu	37	3	122869088	122869089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:122869088_122869089insC	ENST00000316218.7	+	14	1245_1246	c.1150_1151insC	c.(1150-1152)cccfs	p.P384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2.|Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGCCCTGAGGCCCCCCCGCCC	0.604													10	262	---	---	---	---					
MUC13	56667	broad.mit.edu	37	3	124646628	124646629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:124646628_124646629insG	ENST00000311075.3	-	2	299_300	c.261_262insC	c.(259-264)cctaatfs	p.N88fs		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	88	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.441													8	1155	---	---	---	---					
PIK3CB	5291	broad.mit.edu	37	3	138413709	138413710	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:138413709_138413710insG	ENST00000477593.1	-	13	1883_1884	c.1810_1811insC	c.(1810-1812)ggafs	p.G604fs	PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.G604fs|PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.G50fs			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	604	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAGGGCCTCCCGGGGGGGCAGT	0.465													7	106	---	---	---	---					
LOC100507291	100507291	broad.mit.edu	37	3	139212981	139212982	+	RNA	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:139212981_139212982insC	ENST00000515247.1	+	0	317																											GATGACCAAGGCCCCCCCTTGT	0.530													9	104	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)gggfs	p.G493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.460													14	608	---	---	---	---					
SERPINI2	5276	broad.mit.edu	37	3	167189580	167189581	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:167189580_167189581insA	ENST00000476257.1	-	3	340_341	c.42_43insT	c.(40-45)ttgaagfs	p.LK14fs	SERPINI2_ENST00000461846.1_Frame_Shift_Ins_p.LK14fs|SERPINI2_ENST00000471111.1_Frame_Shift_Ins_p.LK14fs|SERPINI2_ENST00000264677.4_Frame_Shift_Ins_p.LK14fs|SERPINI2_ENST00000465031.1_5'UTR			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	14					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GCTTGACTTCCAAAAAACAGCA	0.322													8	683	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(940-945)atggggfs	p.MG314fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	314										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381													8	526	---	---	---	---					
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-684)gccfs	p.A228fs	FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525													16	642	---	---	---	---					
NAAA	27163	broad.mit.edu	37	4	76842176	76842177	+	Frame_Shift_Ins	INS	-	-	G	rs34351680		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:76842176_76842177insG	ENST00000286733.4	-	6	867_868	c.766_767insC	c.(766-768)ggafs	p.G256fs	NAAA_ENST00000511606.1_5'UTR|NAAA_ENST00000507956.1_Frame_Shift_Ins_p.G256fs|NAAA_ENST00000399497.3_Frame_Shift_Ins_p.G256fs|NAAA_ENST00000505594.1_Frame_Shift_Ins_p.G155fs	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	256					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						CACCCCCTCCCGGGGGGACGTG	0.510													7	219	---	---	---	---					
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:79238582_79238583insC	ENST00000264895.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1881)accfs	p.T627fs	FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	627					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAGCCTGCAGCCCCCCCAAGG	0.574													10	167	---	---	---	---					
C4orf22	255119	broad.mit.edu	37	4	81791254	81791254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:81791254delA	ENST00000358105.3	+	4	490	c.441delA	c.(439-441)ggfs	p.G147fs	C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	147										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						ACTTTACTGGAAAAAAAAGAC	0.373													8	523	---	---	---	---					
SLC10A6	345274	broad.mit.edu	37	4	87769942	87769943	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:87769942_87769943insC	ENST00000273905.6	-	1	473_474	c.326_327insG	c.(325-327)gacfs	p.D109fs	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	109						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TAGAGATGGTGCCCCCCGGGCA	0.505													10	209	---	---	---	---					
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351													7	1190	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96091356	96091357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:96091356_96091357insG	ENST00000453304.1	-	15	2926_2927	c.2578_2579insC	c.(2578-2580)gacfs	p.D860fs		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	860	Death.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCCTCTCGTCTGGGGGGCATCC	0.599													8	682	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													17	628	---	---	---	---					
RRH	10692	broad.mit.edu	37	4	110763720	110763721	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:110763720_110763721insC	ENST00000317735.4	+	6	850_851	c.816_817insC	c.(814-819)ccccccfs	p.PP272fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	272					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		AGAAGATTCCTCCCCCCATGGC	0.416													7	653	---	---	---	---					
GAB1	2549	broad.mit.edu	37	4	144381536	144381537	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:144381536_144381537insC	ENST00000262995.4	+	9	2216_2217	c.1789_1790insC	c.(1789-1791)cccfs	p.P597fs	GAB1_ENST00000505913.1_Frame_Shift_Ins_p.P464fs|GAB1_ENST00000262994.4_Frame_Shift_Ins_p.P567fs	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	567					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTTTCCCATGTCCCCCCGACCA	0.406													9	682	---	---	---	---					
FBXW7	55294	broad.mit.edu	37	4	153244155	153244156	+	Frame_Shift_Ins	INS	-	-	C	rs7679116		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:153244155_153244156insC	ENST00000281708.4	-	12	3230_3231	c.2001_2002insG	c.(1999-2004)gggtggfs	p.W668fs	FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.W550fs|FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.W492fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.W588fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	668			S -> G (in dbSNP:rs7679116).		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.S668fs*39(1)|p.S668fs*26(1)|p.?(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)				ACTCCCCCACTCCCCCCACTCT	0.485			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								13	451	---	---	---	---					
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:155526058_155526059insC	ENST00000404648.3	-	9	1528_1529	c.1289_1290insG	c.(1288-1290)ggcfs	p.G430fs	FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.450													8	619	---	---	---	---					
TENM3	55714	broad.mit.edu	37	4	183609358	183609359	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:183609358_183609359insG	ENST00000511685.1	+	12	2198_2199	c.2075_2076insG	c.(2074-2076)aggfs	p.R692fs	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Frame_Shift_Ins_p.R692fs					teneurin transmembrane protein 3																		GGCGTTTGCATGGGGGGGACGT	0.589													16	523	---	---	---	---					
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr4:189012770_189012771insG	ENST00000512729.1	-	7	1294_1295	c.920_921insC	c.(919-921)cctfs	p.P307fs	TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	307	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCTTTTCAGAGGGGGGAAGAC	0.559													7	449	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13766238	13766239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:13766238_13766239insG	ENST00000265104.4	-	59	10051_10052	c.9947_9948insC	c.(9946-9948)ccafs	p.P3316fs	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3316	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATGAGGTGAGGGGGGCGGCC	0.530									Kartagener syndrome				10	801	---	---	---	---					
DROSHA	29102	broad.mit.edu	37	5	31526791	31526792	+	Frame_Shift_Ins	INS	-	-	G	rs149389256	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:31526791_31526792insG	ENST00000511367.2	-	4	492_493	c.248_249insC	c.(247-249)cccfs	p.P83fs	DROSHA_ENST00000442743.1_Frame_Shift_Ins_p.P83fs|DROSHA_ENST00000513349.1_Frame_Shift_Ins_p.P83fs|DROSHA_ENST00000344624.3_Frame_Shift_Ins_p.P83fs	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	83	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GAGGCATGGGTGGGGGGAAGGG	0.574													7	177	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													7	1029	---	---	---	---					
EGFLAM	133584	broad.mit.edu	37	5	38407191	38407192	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:38407191_38407192insG	ENST00000322350.5	+	8	1436_1437	c.1090_1091insG	c.(1090-1092)gggfs	p.G364fs	EGFLAM_ENST00000354891.3_Frame_Shift_Ins_p.G364fs|EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	364	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.S367fs*12(1)		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)					TGACTACACCTGGGGGGGCTCG	0.545													18	231	---	---	---	---					
FYB	2533	broad.mit.edu	37	5	39203039	39203040	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:39203039_39203040insC	ENST00000351578.6	-	2	213_214	c.23_24insG	c.(22-24)gaafs	p.E8fs	FYB_ENST00000505428.1_Frame_Shift_Ins_p.E8fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.E18fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.E8fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.E8fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	8					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTGTCGGGTTGCCCCCCGTGTT	0.446													8	537	---	---	---	---					
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)acgfs	p.T595fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCTCCTCGTTGGGGGGCAGGA	0.500													13	653	---	---	---	---					
CDC20B	166979	broad.mit.edu	37	5	54410148	54410149	+	Splice_Site	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:54410148_54410149insG	ENST00000334206.5	-	13	1722		c.e13-2		CDC20B_ENST00000296733.1_Splice_Site|CDC20B_ENST00000381375.2_Splice_Site|CDC20B_ENST00000322374.6_Splice_Site			Q86Y33	CD20B_HUMAN	cell division cycle 20B											kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CCCTGTGGCCTGGGGGAAGAAG	0.554													10	1818	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													9	291	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													8	149	---	---	---	---					
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)ccaagtfs	p.S880fs	SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604													8	266	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													16	482	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													7	1374	---	---	---	---					
STK10	6793	broad.mit.edu	37	5	171517344	171517345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:171517344_171517345insT	ENST00000176763.5	-	10	1919_1920	c.1576_1577insA	c.(1576-1578)cctfs	p.P526fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	526							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTAC	0.515													16	1470	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)tgtfs	p.C9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485													18	405	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													20	511	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31608570	31608571	+	Splice_Site	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:31608570_31608571insG	ENST00000404765.2	-	21	3221_3222	c.2934_splice	c.e21+1	p.A978_splice	BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice|BAG6_ENST00000211379.5_Splice_Site_p.A942_splice|BAG6_ENST00000362049.6_Splice_Site_p.A942_splice			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	948					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTCCCTTACCTGGGGGGGATCA	0.535													13	227	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													16	329	---	---	---	---					
HLA-DRB1	3123	broad.mit.edu	37	6	32557568	32557569	+	Translation_Start_Site	INS	-	-	AT	rs17204758		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:32557568_32557569insAT	ENST00000360004.5	-	0	56_57					NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCAAGTCTCACTCAGGGAGAAC	0.540										Multiple Myeloma(14;0.17)			11	30	---	---	---	---					
MAPK14	1432	broad.mit.edu	37	6	36068005	36068006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:36068005_36068006insC	ENST00000229795.3	+	9	1170_1171	c.723_724insC	c.(721-726)acccccfs	p.TP241fs	MAPK14_ENST00000229794.4_Intron|MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000310795.4_Intron	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	241	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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 activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGACAGGAACACCCCCCGCTTA	0.426													8	710	---	---	---	---					
PKHD1	5314	broad.mit.edu	37	6	51484320	51484321	+	Splice_Site	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:51484320_51484321insG	ENST00000371117.3	-	67	12061		c.e67-2		RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTCTCATATCTGGGGGGAAAAG	0.426													9	418	---	---	---	---					
EFHC1	114327	broad.mit.edu	37	6	52334207	52334208	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:52334207_52334208insA	ENST00000371068.5	+	7	1317_1318	c.1214_1215insA	c.(1213-1215)caafs	p.Q405fs	EFHC1_ENST00000538167.1_Frame_Shift_Ins_p.Q386fs|EFHC1_ENST00000433625.2_Frame_Shift_Ins_p.Q314fs	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	405						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CCAAAAGCTCCAAAAAAAGACG	0.371													8	366	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564													11	451	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55113573	55113574	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:55113573_55113574insT	ENST00000370862.3	+	2	696_697	c.360_361insT	c.(358-363)tgttttfs	p.CF120fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	120					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAGACCTGGTTTTTTGGACA	0.431													8	1972	---	---	---	---					
EEF1A1	1915	broad.mit.edu	37	6	74229134	74229136	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:74229134_74229136delTGC	ENST00000316292.9	-	2	1239_1241	c.248_250delGCA	c.(247-252)aag>a	p.SK83del	EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000309268.6_In_Frame_Del_p.SK83del|EEF1A1_ENST00000331523.2_In_Frame_Del_p.SK83del	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	83				S -> A (in Ref. 6; CAA27325).		cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACATAGTACTTGCTGGTCTCAAA	0.429											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	30	---	---	---	---					
RFX6	222546	broad.mit.edu	37	6	117250016	117250017	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:117250016_117250017insC	ENST00000332958.2	+	18	2509_2510	c.2493_2494insC	c.(2491-2496)ctccccfs	p.LP831fs		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	831					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCGTTCACTGCCCCCCTACAG	0.455													7	296	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													31	471	---	---	---	---					
NUPL2	11097	broad.mit.edu	37	7	23224772	23224773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:23224772_23224773insG	ENST00000258742.5	+	2	464_465	c.205_206insG	c.(205-207)gggfs	p.G69fs	NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.G69fs|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000487595.1_3'UTR	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	69					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAGC	0.406													8	204	---	---	---	---					
OSBPL3	26031	broad.mit.edu	37	7	24881942	24881943	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:24881942_24881943insA	ENST00000313367.2	-	13	1807_1808	c.1356_1357insT	c.(1354-1359)ttatgcfs	p.LC452fs	OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.LC385fs|OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.LC416fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.LC421fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.LC385fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.LC421fs|OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.LC416fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	452					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCTGAGCATCAAAAAACTCAG	0.401													14	1428	---	---	---	---					
EPDR1	54749	broad.mit.edu	37	7	37988587	37988588	+	Frame_Shift_Ins	INS	-	-	T	rs145911941	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:37988587_37988588insT	ENST00000199448.4	+	2	794_795	c.415_416insT	c.(415-417)cggfs	p.R139fs	EPDR1_ENST00000476620.1_Frame_Shift_Ins_p.R37fs|EPDR1_ENST00000425345.1_Frame_Shift_Ins_p.R78fs|EPDR1_ENST00000559325.1_Frame_Shift_Ins_p.R259fs|EPDR1_ENST00000423717.1_Intron	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	139					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCAGTACTCCATCGGGGGGCCT	0.510													16	1201	---	---	---	---					
POLR2J4	84820	broad.mit.edu	37	7	44012373	44012374	+	RNA	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:44012373_44012374insG	ENST00000427076.1	-	0	1008					NR_003655.2																						AGGGCCCCCCCGGGGGGAGCAG	0.629													4	8	---	---	---	---					
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)atfs	p.I78fs	OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCATGGGACATTTTTTTTCGC	0.577													18	1873	---	---	---	---					
PILRA	29992	broad.mit.edu	37	7	99997490	99997491	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:99997490_99997491insC	ENST00000198536.2	+	7	1084_1085	c.872_873insC	c.(871-873)accfs	p.T291fs	PILRA_ENST00000350573.2_Frame_Shift_Ins_p.T218fs|PILRA_ENST00000453419.1_Frame_Shift_Ins_p.DP205fs|PILRA_ENST00000394000.2_3'UTR	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	291					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCTCAAGAGCCCCCAGAACG	0.589													10	1071	---	---	---	---					
ZCWPW1	55063	broad.mit.edu	37	7	100000150	100000151	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:100000150_100000151insT	ENST00000398027.2	-	16	1706_1707	c.1459_1460insA	c.(1459-1461)caafs	p.Q487fs	ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000360951.4_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	487							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTTGGCTTGGTTTTTTGGGTC	0.480													13	3178	---	---	---	---					
CPED1	79974	broad.mit.edu	37	7	120740133	120740134	+	Frame_Shift_Ins	INS	-	-	C	rs145131821		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:120740133_120740134insC	ENST00000310396.5	+	7	1370_1371	c.903_904insC	c.(901-906)aagcttfs	p.KL301fs	CPED1_ENST00000450913.2_Frame_Shift_Ins_p.KL301fs|CPED1_ENST00000423795.1_Frame_Shift_Ins_p.KL81fs	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.R302C(1)									CAAAGAAAAAACGCTTCACTGT	0.426													15	154	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:18413784_18413785insG	ENST00000440756.2	-	15	2970_2971	c.2868_2869insC	c.(2866-2871)ccacaafs	p.Q957fs	PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.480													11	1139	---	---	---	---					
SLC18A1	6570	broad.mit.edu	37	8	20004787	20004788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:20004787_20004788insG	ENST00000440926.1	-	16	1915_1916	c.1445_1446insC	c.(1444-1446)cgcfs	p.R482fs	SLC18A1_ENST00000276373.5_Frame_Shift_Ins_p.R482fs|SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.R450fs	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	482					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CTTCCTTTGCCGGGGGGCTCCG	0.500													7	345	---	---	---	---					
NRG1	3084	broad.mit.edu	37	8	32614020	32614021	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:32614020_32614021insC	ENST00000338921.4	+	10	1444_1445	c.927_928insC	c.(925-930)ccccccfs	p.PP309fs	NRG1_ENST00000287845.5_Frame_Shift_Ins_p.PP272fs|NRG1_ENST00000519301.1_Frame_Shift_Ins_p.PP251fs|NRG1_ENST00000521670.1_Frame_Shift_Ins_p.PP301fs|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000523079.1_Frame_Shift_Ins_p.PP298fs|NRG1_ENST00000287842.3_Frame_Shift_Ins_p.PP298fs|NRG1_ENST00000287840.5_Frame_Shift_Ins_p.PP301fs|NRG1_ENST00000405005.2_Frame_Shift_Ins_p.PP301fs|NRG1_ENST00000539990.1_Frame_Shift_Ins_p.PP144fs|NRG1_ENST00000356819.4_Frame_Shift_Ins_p.PP306fs			Q02297	NRG1_HUMAN	neuregulin 1	301					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			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)		ATCCTAACCCACCCCCCGAGAA	0.495													11	438	---	---	---	---					
KAT6A	7994	broad.mit.edu	37	8	41834603	41834604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:41834603_41834604insC	ENST00000396930.3	-	8	1828_1829	c.1285_1286insG	c.(1285-1287)agtfs	p.S429fs	KAT6A_ENST00000406337.1_Frame_Shift_Ins_p.S429fs|KAT6A_ENST00000485568.1_Frame_Shift_Ins_p.S429fs|KAT6A_ENST00000265713.2_Frame_Shift_Ins_p.S429fs	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	429	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GTCCACCACTTCCCCCCGAGCT	0.465													9	253	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													24	289	---	---	---	---					
SULF1	23213	broad.mit.edu	37	8	70488248	70488249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:70488248_70488249insG	ENST00000260128.4	+	6	933_934	c.216_217insG	c.(214-219)caggggfs	p.QG72fs	SULF1_ENST00000419716.3_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000402687.4_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000458141.2_Frame_Shift_Ins_p.QG72fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	72					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATGGAACATGGGGGGGCCAC	0.495													7	119	---	---	---	---					
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:70514026delT	ENST00000260128.4	+	10	1740	c.1023delT	c.(1021-1023)ccfs	p.P341fs	SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	341					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408													9	1679	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73480091	73480092	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:73480091_73480092insG	ENST00000523207.1	+	2	710_711	c.122_123insG	c.(121-123)gggfs	p.G41fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	41					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAGATCAATGTGGGGGGCCTCA	0.564													10	440	---	---	---	---					
ZNF704	619279	broad.mit.edu	37	8	81733778	81733778	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:81733778delT	ENST00000327835.3	-	2	283	c.52delA	c.(52-54)tgfs	p.M18fs		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	18						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TGATGAGACATTTTTTTACCA	0.423													13	1402	---	---	---	---					
KCNQ3	3786	broad.mit.edu	37	8	133142049	133142050	+	Frame_Shift_Ins	INS	-	-	G	rs145204452		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr8:133142049_133142050insG	ENST00000388996.4	-	15	2498_2499	c.2078_2079insC	c.(2077-2079)cgafs	p.R693fs	KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.R681fs|KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.R573fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	693					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E694fs*12(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGGGTGGTTCCGGGGGGCCTGT	0.545													7	196	---	---	---	---					
ERMP1	79956	broad.mit.edu	37	9	5801291	5801292	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:5801291_5801292insT	ENST00000339450.5	-	11	2040_2041	c.1951_1952insA	c.(1951-1953)catfs	p.H651fs	ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000543230.1_Frame_Shift_Ins_p.H229fs|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	651					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AGTTAGCATGGTTTTTTTTGTG	0.361													10	416	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)ccatttfs	p.F151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion|ribosome		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401													10	465	---	---	---	---					
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5409)tggfs	p.W1803fs	ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs|ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					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						GCCAGCAAGTTGGGGGGCTACT	0.550													8	283	---	---	---	---					
NUP214	8021	broad.mit.edu	37	9	134073007	134073008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr9:134073007_134073008insC	ENST00000359428.5	+	29	4270_4271	c.4126_4127insC	c.(4126-4128)cccfs	p.P1376fs	NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P1366fs|NUP214_ENST00000483497.2_Frame_Shift_Ins_p.P202fs|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P1377fs|NUP214_ENST00000465486.2_3'UTR			P35658	NU214_HUMAN	nucleoporin 214kDa	1376	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAATTTTACTGCCCCCCCGGTG	0.545			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								12	159	---	---	---	---					
PALD1	27143	broad.mit.edu	37	10	72292440	72292441	+	Frame_Shift_Ins	INS	-	-	G	rs145337663	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:72292440_72292441insG	ENST00000263563.6	+	6	965_966	c.697_698insG	c.(697-699)gggfs	p.G233fs		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CGAGGACCTGTGGGGGGAGCCC	0.604													13	485	---	---	---	---					
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:75560463_75560464insC	ENST00000604729.1	+	24	5365_5366	c.5068_5069insC	c.(5068-5070)cccfs	p.P1690fs	ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs|ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs					zinc finger, SWIM-type containing 8																		CTTCTCCCGCTCCCCCCCCTAC	0.604													12	93	---	---	---	---					
KAT6B	23522	broad.mit.edu	37	10	76790222	76790223	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:76790222_76790223insC	ENST00000287239.4	+	18	6129_6130	c.5640_5641insC	c.(5638-5643)ccccccfs	p.PP1880fs	KAT6B_ENST00000372724.1_Frame_Shift_Ins_p.PP1588fs|KAT6B_ENST00000372711.1_Frame_Shift_Ins_p.PP1697fs|KAT6B_ENST00000372714.1_Frame_Shift_Ins_p.PP1588fs|KAT6B_ENST00000372725.1_Frame_Shift_Ins_p.PP1588fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1880	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CCATGACCCCACCCCCCAACCT	0.535													8	290	---	---	---	---					
GRID1	2894	broad.mit.edu	37	10	87407105	87407105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:87407105delG	ENST00000327946.7	-	13	2132	c.2047delC	c.(2047-2049)ggfs	p.R683fs	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Frame_Shift_Del_p.R254fs	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	683						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCAGAATCCCGGACAGTGCCA	0.532										Multiple Myeloma(13;0.14)			234	1523	---	---	---	---					
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:93272060_93272061insC	ENST00000446394.1	+	22	2362_2363	c.2262_2263insC	c.(2260-2265)ctccccfs	p.LP754fs	HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs|HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs|HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	750	HECT.				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						AACTTTGCCTTCCCCCCTACAA	0.356													10	716	---	---	---	---					
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1771-1776)gaccccfs	p.DP591fs	BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	591					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431													10	330	---	---	---	---					
TRIM21	6737	broad.mit.edu	37	11	4409705	4409705	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:4409705delT	ENST00000254436.7	-	4	672	c.560delA	c.(559-561)acfs	p.N187fs	TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	187					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AACCAGGAAGTTTTTTTGCTG	0.483													7	1478	---	---	---	---					
OR52E4	390081	broad.mit.edu	37	11	5905552	5905553	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:5905552_5905553insC	ENST00000316987.2	+	1	52_53	c.30_31insC	c.(28-33)taccccfs	p.YP10fs		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACTTCTATCCCCCCTTCTT	0.441													8	775	---	---	---	---					
EIF4G2	1982	broad.mit.edu	37	11	10820934	10820935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:10820934_10820935insG	ENST00000526148.1	-	20	2871_2872	c.2361_2362insC	c.(2359-2364)ccgcgafs	p.R788fs	EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	788	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.S788R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTTCATCGCTGGGGGGGTTTA	0.406													9	117	---	---	---	---					
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)aacfs	p.N202fs	APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs|APIP_ENST00000527830.1_5'UTR	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	202					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.450													8	687	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(748-753)atccccfs	p.IP250fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.480													12	1215	---	---	---	---					
OR4P4	81300	broad.mit.edu	37	11	55406728	55406728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:55406728delG	ENST00000314612.2	+	1	895	c.895delG	c.(895-897)tgfs	p.V299fs		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CATGAGGAAAGTGTGGTGTTG	0.393													116	158	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:61183884_61183885insG	ENST00000340437.4	-	6	866_867	c.786_787insC	c.(784-789)ccgtgtfs	p.C263fs	CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594													9	604	---	---	---	---					
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:62458782_62458783insC	ENST00000433053.1	-	8	1530_1531	c.974_975insG	c.(973-975)gatfs	p.D325fs	BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559													9	99	---	---	---	---					
HRASLS5	117245	broad.mit.edu	37	11	63257814	63257815	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:63257814_63257815insG	ENST00000539221.1	-	2	302_303	c.169_170insC	c.(169-171)tgafs	p.*57fs	HRASLS5_ENST00000301790.4_Frame_Shift_Ins_p.*57fs|HRASLS5_ENST00000540857.1_Intron			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	57										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TTCTAATTCAAGGGGGGAAATG	0.564													8	370	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)tgcfs	p.C9fs	NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	9					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL								10	381	---	---	---	---					
LRRC32	2615	broad.mit.edu	37	11	76371428	76371429	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:76371428_76371429insG	ENST00000407242.2	-	3	1450_1451	c.1208_1209insC	c.(1207-1209)ctafs	p.L403fs	LRRC32_ENST00000404995.1_Frame_Shift_Ins_p.L403fs|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Frame_Shift_Ins_p.L403fs|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	403						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAAAGGTGTATGGGGGCAGGTC	0.663													11	19	---	---	---	---					
SYTL2	54843	broad.mit.edu	37	11	85435355	85435356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:85435355_85435356insG	ENST00000359152.5	-	1	3715_3716	c.3716_3717insC	c.(3715-3717)cgafs	p.R1239fs	SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	400					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCCTGTCCTCTGGGGGGGTTAC	0.480													9	210	---	---	---	---					
PIWIL4	143689	broad.mit.edu	37	11	94353003	94353004	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:94353003_94353004insC	ENST00000299001.6	+	18	2457_2458	c.2246_2247insC	c.(2245-2247)accfs	p.T749fs	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA|PIWIL4_ENST00000537419.1_Frame_Shift_Ins_p.T100fs	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	749	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACTGTACAGAACCCCCCACTTG	0.436													7	543	---	---	---	---					
AMOTL1	154810	broad.mit.edu	37	11	94533229	94533230	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:94533229_94533230insG	ENST00000433060.2	+	3	1014_1015	c.873_874insG	c.(871-876)ggggggfs	p.GG291fs	AMOTL1_ENST00000317837.9_Frame_Shift_Ins_p.GG291fs|AMOTL1_ENST00000317829.8_Frame_Shift_Ins_p.GG241fs	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	291						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TCAAAGTAGGAGGGGGGCCCTC	0.609													10	544	---	---	---	---					
MMP13	4322	broad.mit.edu	37	11	102820917	102820918	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:102820917_102820918insT	ENST00000260302.3	-	6	866_867	c.838_839insA	c.(838-840)gccfs	p.A280fs	MMP13_ENST00000340273.4_Frame_Shift_Ins_p.A280fs	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	280					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TTTGTCTGGCGTTTTTGGATGT	0.431													7	1931	---	---	---	---					
LOC643733	643733	broad.mit.edu	37	11	104778247	104778248	+	RNA	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:104778247_104778248insC	ENST00000532510.1	-	0	1184_1185																											TTCCACACATTCCCCCCAGGAT	0.505													7	432	---	---	---	---					
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cccfs	p.P471fs	RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431													16	708	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													21	1524	---	---	---	---					
HTR3A	3359	broad.mit.edu	37	11	113857332	113857333	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:113857332_113857333insC	ENST00000504030.2	+	7	1243_1244	c.798_799insC	c.(796-801)ctccccfs	p.LP266fs	HTR3A_ENST00000355556.2_Frame_Shift_Ins_p.LP272fs|HTR3A_ENST00000375498.2_Frame_Shift_Ins_p.LP272fs|HTR3A_ENST00000299961.5_Frame_Shift_Ins_p.LP251fs|HTR3A_ENST00000535865.1_Frame_Shift_Ins_p.LP10fs|HTR3A_ENST00000506841.2_Frame_Shift_Ins_p.LP266fs			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	266					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GCTTCTACCTGCCCCCCAACAG	0.594													7	192	---	---	---	---					
EFCAB4B	84766	broad.mit.edu	37	12	3788266	3788267	+	Splice_Site	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:3788266_3788267insG	ENST00000440314.2	-	6	814		c.e6-2		EFCAB4B_ENST00000444507.1_Splice_Site|EFCAB4B_ENST00000252322.1_Splice_Site	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B						activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			AGAAGTGACCTGGGGGGTGCAG	0.525													10	327	---	---	---	---					
AKAP3	10566	broad.mit.edu	37	12	4736153	4736154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:4736153_4736154insG	ENST00000545990.2	-	5	2438_2439	c.1914_1915insC	c.(1912-1917)ccggctfs	p.A639fs	AKAP3_ENST00000228850.1_Frame_Shift_Ins_p.A639fs	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	639					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCATATAGCCTGGGGGGAGAAG	0.540													7	250	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													8	194	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-474)tccfs	p.S158fs	C1S_ENST00000402681.3_5'UTR|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCTGCTCCTGCCCCCCGGAAT	0.455													9	377	---	---	---	---					
A2ML1	144568	broad.mit.edu	37	12	9001442	9001443	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:9001442_9001443insC	ENST00000299698.7	+	16	2140_2141	c.1960_1961insC	c.(1960-1962)gagfs	p.E654fs	A2ML1_ENST00000539547.1_Frame_Shift_Ins_p.E163fs	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	498						extracellular space	endopeptidase inhibitor activity	p.S654L(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCAAGGGCATTCGAGCCAGCGT	0.525													13	2417	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													9	395	---	---	---	---					
ITPR2	3709	broad.mit.edu	37	12	26750053	26750054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:26750053_26750054insC	ENST00000381340.3	-	31	4432_4433	c.4016_4017insG	c.(4015-4017)ggafs	p.G1339fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1339					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GCACGTCTTCACCCCCATTTAT	0.416													9	1611	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)cccfs	p.P647fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATACCTCAGGTGGGGGGGACAT	0.634													9	102	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)cccfs	p.P302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					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						TCAGGCTGGTACCCCCCGTTAT	0.465													20	3110	---	---	---	---					
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)ccaggcfs	p.G490fs	STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_3'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594													11	187	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)ccgggcfs	p.PG444fs	BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594													11	281	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													12	360	---	---	---	---					
MYBPC1	4604	broad.mit.edu	37	12	102057273	102057274	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr12:102057273_102057274insC	ENST00000549145.1	+	21	2355_2356	c.2255_2256insC	c.(2254-2256)cccfs	p.P752fs	MYBPC1_ENST00000392934.3_Frame_Shift_Ins_p.P726fs|MYBPC1_ENST00000361685.2_Frame_Shift_Ins_p.P764fs|MYBPC1_ENST00000361466.2_Frame_Shift_Ins_p.P764fs|MYBPC1_ENST00000553190.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000360610.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000551300.1_Frame_Shift_Ins_p.P640fs|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000547509.1_Frame_Shift_Ins_p.P725fs|MYBPC1_ENST00000547405.1_Frame_Shift_Ins_p.P713fs|MYBPC1_ENST00000545503.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000541119.1_Frame_Shift_Ins_p.P727fs|MYBPC1_ENST00000536007.1_Frame_Shift_Ins_p.P720fs|MYBPC1_ENST00000452455.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000441232.1_Frame_Shift_Ins_p.P739fs			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	739	Fibronectin type-III 2.			Y -> H (in Ref. 3; CAD38925).	cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATGAGGTGGCGCCCCCCAGACC	0.436													7	418	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													23	432	---	---	---	---					
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaaggafs	p.G728fs	RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	728					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332													9	153	---	---	---	---					
TEP1	7011	broad.mit.edu	37	14	20846337	20846338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:20846337_20846338insC	ENST00000262715.5	-	39	5606_5607	c.5566_5567insG	c.(5566-5568)tgtfs	p.C1856fs	TEP1_ENST00000545983.1_Frame_Shift_Ins_p.C194fs|TEP1_ENST00000556935.1_Frame_Shift_Ins_p.C1748fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1856					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CACAGCCACAACCCCCCCAGGC	0.624													8	118	---	---	---	---					
TEP1	7011	broad.mit.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C	rs144584331		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTGCCACACCCCCCCACTC	0.584													21	434	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)ccagaafs	p.E1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.480													21	854	---	---	---	---					
TRAV3	28690	broad.mit.edu	37	14	22192097	22192098	+	RNA	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:22192097_22192098insC	ENST00000390425.2	+	0	138_139																											GCTGGAAAGGACCCCCCCAATC	0.574													16	306	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)cccfs	p.P9fs	AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505													7	1088	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72054754	72054755	+	Frame_Shift_Ins	INS	-	-	C	rs12884638	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:72054754_72054755insC	ENST00000555818.1	+	2	513_514	c.165_166insC	c.(163-168)ggccccfs	p.GP55fs	SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.GP55fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.GP55fs	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	55					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCCTGTAGGACCCCCCCGAAG	0.535													11	240	---	---	---	---					
VRTN	55237	broad.mit.edu	37	14	74824462	74824463	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:74824462_74824463insG	ENST00000256362.4	+	2	1217_1218	c.976_977insG	c.(976-978)gggfs	p.G326fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	326					transposition, DNA-mediated		DNA binding|transposase activity	p.V329fs*25(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAGCTTCCACCGGGGGGGCGTC	0.644													7	93	---	---	---	---					
YLPM1	56252	broad.mit.edu	37	14	75248518	75248519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:75248518_75248519insC	ENST00000325680.7	+	4	1896_1897	c.1772_1773insC	c.(1771-1773)cccfs	p.P591fs	YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P591fs|YLPM1_ENST00000238571.3_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCACCAGTTCTCCCCCCACCTT	0.599													7	299	---	---	---	---					
IGHV3-11	28450	broad.mit.edu	37	14	106573362	106573364	+	RNA	DEL	ACC	ACC	-	rs2003432	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr14:106573362_106573364delACC	ENST00000390601.2	-	0	339_341																											ATATGGTACTACCACTACTACTA	0.522													7	394	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64967993	64967994	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr15:64967993_64967994insC	ENST00000326648.3	+	4	3068_3069	c.2940_2941insC	c.(2938-2943)gtccccfs	p.VP980fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	980						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGCCTATGTACCCCCCTATGG	0.550													10	1025	---	---	---	---					
MEFV	4210	broad.mit.edu	37	16	3293233	3293233	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:3293233delG	ENST00000219596.1	-	10	2293	c.2254delC	c.(2254-2256)ttfs	p.L752fs	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Frame_Shift_Del_p.L572fs|MEFV_ENST00000536379.1_Frame_Shift_Del_p.L541fs	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	752	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	ATAGGTTGAAGGGGCCCAGAG	0.532													24	24	---	---	---	---					
EMP2	2013	broad.mit.edu	37	16	10637490	10637491	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:10637490_10637491insA	ENST00000359543.3	-	3	314_315	c.105_106insT	c.(103-108)ttcagafs	p.R36fs	EMP2_ENST00000536829.1_Frame_Shift_Ins_p.R36fs	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	36					cell proliferation	integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						CAGACATCTGCAAAAAACTCAT	0.441													8	915	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505													10	341	---	---	---	---					
ITGAD	3681	broad.mit.edu	37	16	31422532	31422533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:31422532_31422533insG	ENST00000389202.2	+	13	1541_1542	c.1492_1493insG	c.(1492-1494)gggfs	p.G498fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	498					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCCCTTGCCTAGGGGGGTGAGT	0.629													9	634	---	---	---	---					
C16orf87	388272	broad.mit.edu	37	16	46843530	46843531	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:46843530_46843531insT	ENST00000285697.4	-	3	591_592	c.330_331insA	c.(328-333)aaatgafs	p.*111fs	C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Intron	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	111										large_intestine(4)|urinary_tract(1)	5						TCTTCCTCATGTTTTTTGGCAG	0.351													8	980	---	---	---	---					
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:67180988_67180989insC	ENST00000219139.3	+	16	1411_1412	c.1223_1224insC	c.(1222-1224)gccfs	p.A408fs	C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													10	128	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	70934982	70934983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:70934982_70934983insG	ENST00000393567.2	-	53	9122_9123	c.8972_8973insC	c.(8971-8973)cgafs	p.R2991fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2991										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)				ACTCAGCCTCAGGGGGGATGGT	0.574													9	1425	---	---	---	---					
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1042-1047)tcggggfs	p.SG348fs	PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	348	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401													7	422	---	---	---	---					
ARHGEF15	22899	broad.mit.edu	37	17	8222137	8222138	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:8222137_8222138insG	ENST00000361926.3	+	12	2052_2053	c.1942_1943insG	c.(1942-1944)gggfs	p.G648fs	ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.G648fs|ARHGEF15_ENST00000582060.1_3'UTR	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	648					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGGGTGCCGGAGGGGGGGCGTG	0.634													10	160	---	---	---	---					
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)gggfs	p.G76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579													10	177	---	---	---	---					
TAF15	8148	broad.mit.edu	37	17	34171885	34171886	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:34171885_34171886insG	ENST00000588240.1	+	15	1697_1698	c.1582_1583insG	c.(1582-1584)gggfs	p.G528fs	TAF15_ENST00000592237.1_Splice_Site_p.TG332_splice|TAF15_ENST00000311979.3_Frame_Shift_Ins_p.G525fs	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	528	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		agACAGAAGCCGGGGGGGCTAT	0.609			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								8	97	---	---	---	---					
KRT26	353288	broad.mit.edu	37	17	38926341	38926342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:38926341_38926342insC	ENST00000335552.4	-	4	762_763	c.714_715insG	c.(712-717)ggacgtfs	p.R239fs		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	239	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				ACGTTCACGTTCCCCCCAGCTG	0.480													7	478	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.460													10	969	---	---	---	---					
SMARCD2	6603	broad.mit.edu	37	17	61914346	61914346	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:61914346delT	ENST00000448276.2	-	4	768	c.503delA	c.(502-504)agfs	p.K168fs	SMARCD2_ENST00000323347.10_Frame_Shift_Del_p.K120fs|SMARCD2_ENST00000225742.9_Frame_Shift_Del_p.K93fs	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	168					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CTGGTCCAGCTTCCGCTCAAA	0.547													10	64	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													27	1275	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000580032.1_5'UTR	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													14	198	---	---	---	---					
MYOM1	8736	broad.mit.edu	37	18	3142039	3142040	+	Frame_Shift_Ins	INS	-	-	G	rs138431527	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:3142039_3142040insG	ENST00000400569.3	-	14	2255_2256	c.1922_1923insC	c.(1921-1923)cacfs	p.H641fs	MYOM1_ENST00000356443.4_Frame_Shift_Ins_p.H641fs|MYOM1_ENST00000261606.7_Frame_Shift_Ins_p.H641fs			P52179	MYOM1_HUMAN	myomesin 1	641	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle	p.P641Q(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAGGTCTGTCGGGGGGCCAGG	0.545													7	272	---	---	---	---					
DSC3	1825	broad.mit.edu	37	18	28576866	28576867	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:28576866_28576867insC	ENST00000434452.1	-	15	2537_2538	c.2383_2384insG	c.(2383-2385)tggfs	p.W795fs	DSC3_ENST00000360428.4_Frame_Shift_Ins_p.W795fs	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	795					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATGATGCCCAGCCCCCCGGCAG	0.515													8	156	---	---	---	---					
MYO5B	4645	broad.mit.edu	37	18	47463659	47463659	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:47463659delT	ENST00000285039.7	-	15	2160	c.1861delA	c.(1861-1863)tgfs	p.M621fs		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	621	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGACTTTCATGGGGGGTCTG	0.572													101	757	---	---	---	---					
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)ccagtcfs	p.V891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AACGAGGACTTGGGGGGGATGG	0.574													10	178	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)ccaaccfs	p.T130fs	DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495													8	96	---	---	---	---					
OR10H4	126541	broad.mit.edu	37	19	16059876	16059877	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:16059876_16059877insC	ENST00000322107.1	+	1	59_60	c.59_60insC	c.(58-60)tccfs	p.S20fs		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TTCTCAGCCTTCCCCCAGCACC	0.455													7	1087	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:17039883_17039884insC	ENST00000443236.1	-	24	3184_3185	c.3153_3154insG	c.(3151-3156)ggatcafs	p.S1052fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1005						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.H1052fs*30(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584													8	90	---	---	---	---					
ZNF91	7644	broad.mit.edu	37	19	23543836	23543837	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:23543836_23543837delTA	ENST00000300619.7	-	4	2149_2150	c.1944_1945delTA	c.(1942-1947)caagfs	p.HK648fs	ZNF91_ENST00000397082.2_Frame_Shift_Del_p.HK616fs|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	648						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGAATTCTCTTATGTTTAGCAA	0.386													10	92	---	---	---	---					
KIRREL2	84063	broad.mit.edu	37	19	36349458	36349458	+	Splice_Site	DEL	G	G	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:36349458delG	ENST00000360202.5	+	3	558	c.361_splice	c.e3+1	p.L120_splice	KIRREL2_ENST00000592409.1_Splice_Site_p.L120_splice|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Splice_Site_p.L70_splice|KIRREL2_ENST00000262625.7_Splice_Site_p.L120_splice|KIRREL2_ENST00000586102.2_Splice_Site_p.L120_splice	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	120					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCACGTGCTGGGTAAGGACC	0.602													24	58	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													13	822	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													10	361	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)caafs	p.Q583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545													10	221	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)ggctggfs	p.W15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCACCAGTCCCCCCCAGGG	0.653													12	110	---	---	---	---					
HSPA12B	116835	broad.mit.edu	37	20	3722946	3722947	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr20:3722946_3722947insC	ENST00000254963.2	+	4	302_303	c.157_158insC	c.(157-159)cccfs	p.P53fs	HSPA12B_ENST00000542646.1_Intron	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	53							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CGAGGTCCGAGCCCCCCAGCAG	0.594													7	814	---	---	---	---					
KIF16B	55614	broad.mit.edu	37	20	16407830	16407831	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr20:16407830_16407831insC	ENST00000354981.2	-	15	1687_1688	c.1530_1531insG	c.(1528-1533)ggcagtfs	p.S511fs	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Frame_Shift_Ins_p.S511fs|KIF16B_ENST00000408042.1_Frame_Shift_Ins_p.S511fs	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	511	FHA.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGAGTCACTGTCCCCCCGATAT	0.431													7	1006	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													16	434	---	---	---	---					
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr20:30737490_30737491insC	ENST00000217315.5	+	10	1297_1298	c.957_958insC	c.(955-960)agccccfs	p.SP319fs	TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	336						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604													7	73	---	---	---	---					
GDAP1L1	78997	broad.mit.edu	37	20	42907847	42907848	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr20:42907847_42907848insC	ENST00000342560.5	+	6	1099_1100	c.1011_1012insC	c.(1009-1014)aaccccfs	p.NP337fs	GDAP1L1_ENST00000537864.1_Frame_Shift_Ins_p.NP145fs	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	337	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCAAGAGGAAACCCCCATCCTT	0.584													9	682	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													35	451	---	---	---	---					
EPPIN	57119	broad.mit.edu	37	20	44174296	44174297	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr20:44174296_44174297insT	ENST00000354280.4	-	2	270_271	c.204_205insA	c.(202-207)aagtttfs	p.F69fs	EPPIN_ENST00000336443.3_Frame_Shift_Ins_p.F53fs|EPPIN_ENST00000409554.1_Frame_Shift_Ins_p.F69fs|EPPIN_ENST00000555685.1_Frame_Shift_Ins_p.F69fs|EPPIN-WFDC6_ENST00000504988.1_Frame_Shift_Ins_p.F69fs	NM_020398.3	NP_065131.1			epididymal peptidase inhibitor									p.C53fs*28(2)									AGATCTAAACATTTTTTTCCGC	0.455													7	946	---	---	---	---					
TSHZ2	128553	broad.mit.edu	37	20	51872444	51872445	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr20:51872444_51872445insC	ENST00000371497.5	+	2	3334_3335	c.2447_2448insC	c.(2446-2448)gccfs	p.A816fs	TSHZ2_ENST00000603338.2_Frame_Shift_Ins_p.A813fs|TSHZ2_ENST00000329613.6_Frame_Shift_Ins_p.A813fs	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	816					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCCTCCAGGGTCCCCCCCATGA	0.550													9	183	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(463-468)gtccccfs	p.VP155fs	ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	155					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525													9	274	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													11	885	---	---	---	---					
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381													7	180	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:40681766_40681767insC	ENST00000454349.2	+	12	3911_3912	c.3700_3701insC	c.(3700-3702)cccfs	p.P1234fs	TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1234					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCAGTTTATTTCCCCCCAGGTA	0.450													10	483	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40708590	40708591	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:40708590_40708591insG	ENST00000454349.2	+	18	4728_4729	c.4517_4518insG	c.(4516-4518)cggfs	p.R1506fs	TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.R702fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.R1396fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.R702fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1506					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GGAAGTGTGCTGGGGGGTACAG	0.480													11	870	---	---	---	---					
CYP2D6	1565	broad.mit.edu	37	22	42524213	42524214	+	Frame_Shift_Ins	INS	-	-	G	rs72549352		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:42524213_42524214insG	ENST00000360608.5	-	5	919_920	c.805_806insC	c.(805-807)agafs	p.R269fs	NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Frame_Shift_Ins_p.R269fs|CYP2D6_ENST00000359033.4_Frame_Shift_Ins_p.R218fs|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	269							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTCAGGTCTCGGGGGGGCTGG	0.629													4	8	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	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						GCTGCTCCCCTGGGGGGGTCCA	0.564													34	625	---	---	---	---					
MAGEB1	4112	broad.mit.edu	37	X	30269510	30269510	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:30269510delC	ENST00000378981.3	+	4	1221	c.900delC	c.(898-900)ttfs	p.F300fs	MAGEB1_ENST00000397548.2_Frame_Shift_Del_p.F300fs|MAGEB1_ENST00000397550.1_Frame_Shift_Del_p.F300fs	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	300	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCCGTGACTTCCCATCCCATT	0.512													77	217	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:40982956_40982957insC	ENST00000324545.7	+	2	708_709	c.75_76insC	c.(73-78)caccccfs	p.HP25fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	25				Q -> L (in Ref. 1; CAA66942).	BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GACAGTCTCAGCCCCCCCTCCA	0.540													7	183	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:48159107_48159108insG	ENST00000376909.1	-	6	487_488	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.490													10	461	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)acafs	p.T161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.480													11	891	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495													9	491	---	---	---	---					
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)gccfs	p.A482fs	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								18	152	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:73963268_73963269insC	ENST00000373468.1	-	3	1774_1775	c.1123_1124insG	c.(1123-1125)ggafs	p.G375fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs			Q5QGS0	K2022_HUMAN	KIAA2022	375					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						TTTATCTTCCTCCCCCCAGATG	0.475													16	1053	---	---	---	---					
KLHL4	56062	broad.mit.edu	37	X	86890716	86890717	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:86890716_86890717insG	ENST00000373119.4	+	9	2011_2012	c.1866_1867insG	c.(1864-1869)gtggggfs	p.VG622fs	KLHL4_ENST00000373114.4_Frame_Shift_Ins_p.VG622fs	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	622						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.H625fs*2(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TATATGTTGTAGGGGGGCATGA	0.441													9	388	---	---	---	---					
BCORL1	63035	broad.mit.edu	37	X	129146962	129146963	+	Frame_Shift_Ins	INS	-	-	G	rs141901231	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:129146962_129146963insG	ENST00000540052.1	+	3	258_259	c.214_215insG	c.(214-216)gggfs	p.G72fs	BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000218147.7_Frame_Shift_Ins_p.G72fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	72					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGCAATGCCCGGGGGGCAGAC	0.569													7	511	---	---	---	---					
GPR112	139378	broad.mit.edu	37	X	135426885	135426886	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:135426885_135426886insA	ENST00000394143.1	+	6	1311_1312	c.1020_1021insA	c.(1018-1023)ataaaafs	p.IK340fs	GPR112_ENST00000370652.1_Frame_Shift_Ins_p.IK340fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.IK135fs|GPR112_ENST00000287534.4_Frame_Shift_Ins_p.IK277fs|GPR112_ENST00000412101.1_Frame_Shift_Ins_p.IK135fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	340					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCAATTCCATGAAAAAAACGAA	0.386													8	1184	---	---	---	---					
GAB3	139716	broad.mit.edu	37	X	153940634	153940635	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:153940634_153940635insG	ENST00000369575.3	-	4	966_967	c.935_936insC	c.(934-936)caafs	p.Q312fs	GAB3_ENST00000424127.2_Frame_Shift_Ins_p.Q313fs|GAB3_ENST00000496390.1_Intron	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	312										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGCTTGGCTTAGGGGGGCGGGG	0.495													7	427	---	---	---	---					
COL11A1	1301	broad.mit.edu	37	1	103404607	103404607	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:103404607delC	ENST00000358392.2	-	44	3775	c.3458delG	c.(3457-3459)gtfs	p.G1153fs	COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G1025fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G1102fs|COL11A1_ENST00000370096.3_Frame_Shift_Del_p.G1141fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1141	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)		TCCCTTGTCACCCTTGCTGCC	0.338													20	204	---	---	---	---					
ATP1A2	477	broad.mit.edu	37	1	160085661	160085662	+	Splice_Site	DEL	GG	GG	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:160085661_160085662delGG	ENST00000361216.3	+	1	99_100	c.12_splice	c.e1+1	p.G4_splice	ATP1A2_ENST00000392233.3_Splice_Site_p.G4_splice|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	4					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GATGGGCCGTGGGGTGAGTATC	0.624													8	17	---	---	---	---					
HMCN1	83872	broad.mit.edu	37	1	185956655	185956656	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:185956655_185956656insC	ENST00000271588.4	+	20	3256_3257	c.3027_3028insC	c.(3025-3030)aacgtcfs	p.V1010fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.V1010fs|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1010	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAATCCCAAACCGTCTGTCAT	0.436													127	172	---	---	---	---					
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gttcagfs	p.Q320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545													4	8	---	---	---	---					
HSPD1P6	645548	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:36810381delT	ENST00000424886.1	-	0	405																											GAGTGAGGCCttttttttttt	0.542													2	4	---	---	---	---					
SMARCC1	6599	broad.mit.edu	37	3	47632266	47632266	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr3:47632266delG	ENST00000254480.5	-	27	3224	c.3105delC	c.(3103-3105)ccfs	p.P1035fs	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	1035	Pro-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTGCAACAGTGGGAATCATGC	0.567													18	110	---	---	---	---					
PCDHGA5	56110	broad.mit.edu	37	5	140745002	140745002	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr5:140745002delT	ENST00000518069.1	+	1	1105	c.1105delT	c.(1105-1107)ttfs	p.F369fs	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCGCGCTGTTTAGCGTACA	0.443													21	68	---	---	---	---					
EEF1A1	1915	broad.mit.edu	37	6	74229134	74229136	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr6:74229134_74229136delTGC	ENST00000316292.9	-	2	1239_1241	c.248_250delGCA	c.(247-252)aag>a	p.SK83del	EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000331523.2_In_Frame_Del_p.SK83del|EEF1A1_ENST00000309268.6_In_Frame_Del_p.SK83del	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	83				S -> A (in Ref. 6; CAA27325).		cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACATAGTACTTGCTGGTCTCAAA	0.429											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	24	119	---	---	---	---					
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)atfs	p.I78fs	OGDH_ENST00000439616.2_Intron|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCATGGGACATTTTTTTTCGC	0.577													8	729	---	---	---	---					
GRID1	2894	broad.mit.edu	37	10	87407105	87407105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr10:87407105delG	ENST00000327946.7	-	13	2132	c.2047delC	c.(2047-2049)ggfs	p.R683fs	GRID1_ENST00000536331.1_Frame_Shift_Del_p.R254fs|RP11-93H12.4_ENST00000474115.2_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	683						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCAGAATCCCGGACAGTGCCA	0.532										Multiple Myeloma(13;0.14)			73	515	---	---	---	---					
OR4P4	81300	broad.mit.edu	37	11	55406728	55406728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:55406728delG	ENST00000314612.2	+	1	895	c.895delG	c.(895-897)tgfs	p.V299fs		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CATGAGGAAAGTGTGGTGTTG	0.393													47	71	---	---	---	---					
LRRC32	2615	broad.mit.edu	37	11	76371428	76371429	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr11:76371428_76371429insG	ENST00000407242.2	-	3	1450_1451	c.1208_1209insC	c.(1207-1209)ctafs	p.L403fs	LRRC32_ENST00000404995.1_Frame_Shift_Ins_p.L403fs|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Frame_Shift_Ins_p.L403fs|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	403						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAAAGGTGTATGGGGGCAGGTC	0.663													9	24	---	---	---	---					
MEFV	4210	broad.mit.edu	37	16	3293233	3293233	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:3293233delG	ENST00000219596.1	-	10	2293	c.2254delC	c.(2254-2256)ttfs	p.L752fs	MEFV_ENST00000339854.4_Frame_Shift_Del_p.L572fs|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Frame_Shift_Del_p.L541fs	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	752	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	ATAGGTTGAAGGGGCCCAGAG	0.532													95	85	---	---	---	---					
ZNF423	23090	broad.mit.edu	37	16	49669923	49669923	+	Frame_Shift_Del	DEL	G	G	-	rs111229124	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:49669923delG	ENST00000561648.1	-	4	3193	c.3140delC	c.(3139-3141)ggfs	p.A1047fs	ZNF423_ENST00000567169.1_Frame_Shift_Del_p.A930fs|ZNF423_ENST00000562871.1_Frame_Shift_Del_p.A987fs|ZNF423_ENST00000562520.1_Frame_Shift_Del_p.A987fs|ZNF423_ENST00000262383.2_Frame_Shift_Del_p.A1047fs|ZNF423_ENST00000563137.2_Frame_Shift_Del_p.A987fs|ZNF423_ENST00000535559.1_Frame_Shift_Del_p.A930fs	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1047					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)				TGAGCTGCCCGCCAGCTTCTG	0.617													8	60	---	---	---	---					
LCAT	3931	broad.mit.edu	37	16	67973970	67973971	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr16:67973970_67973971insG	ENST00000264005.5	-	6	1188_1189	c.1159_1160insC	c.(1159-1161)gccfs	p.A387fs		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	387					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		AGGCTGTGGCTGGCGGCCCTGC	0.629													7	211	---	---	---	---					
SMARCD2	6603	broad.mit.edu	37	17	61914346	61914346	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr17:61914346delT	ENST00000448276.2	-	4	768	c.503delA	c.(502-504)agfs	p.K168fs	SMARCD2_ENST00000225742.9_Frame_Shift_Del_p.K93fs|SMARCD2_ENST00000323347.10_Frame_Shift_Del_p.K120fs	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	168					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CTGGTCCAGCTTCCGCTCAAA	0.547													10	165	---	---	---	---					
MYO5B	4645	broad.mit.edu	37	18	47463659	47463659	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr18:47463659delT	ENST00000285039.7	-	15	2160	c.1861delA	c.(1861-1863)tgfs	p.M621fs		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	621	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGACTTTCATGGGGGGTCTG	0.572													23	237	---	---	---	---					
ZNF91	7644	broad.mit.edu	37	19	23543836	23543837	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:23543836_23543837delTA	ENST00000300619.7	-	4	2149_2150	c.1944_1945delTA	c.(1942-1947)caagfs	p.HK648fs	ZNF91_ENST00000397082.2_Frame_Shift_Del_p.HK616fs|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	648						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGAATTCTCTTATGTTTAGCAA	0.386													11	139	---	---	---	---					
KIRREL2	84063	broad.mit.edu	37	19	36349458	36349458	+	Splice_Site	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chr19:36349458delG	ENST00000360202.5	+	3	558	c.361_splice	c.e3+1	p.L120_splice	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Splice_Site_p.L120_splice|KIRREL2_ENST00000586102.2_Splice_Site_p.L120_splice|KIRREL2_ENST00000347900.6_Splice_Site_p.L70_splice|KIRREL2_ENST00000592409.1_Splice_Site_p.L120_splice	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	120					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCACGTGCTGGGTAAGGACC	0.602													42	85	---	---	---	---					
MAGEB1	4112	broad.mit.edu	37	X	30269510	30269510	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	ed113649-2a1d-4674-96e0-d4cb13cc1f2a	g.chrX:30269510delC	ENST00000378981.3	+	4	1221	c.900delC	c.(898-900)ttfs	p.F300fs	MAGEB1_ENST00000397548.2_Frame_Shift_Del_p.F300fs|MAGEB1_ENST00000397550.1_Frame_Shift_Del_p.F300fs	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	300	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCCGTGACTTCCCATCCCATT	0.512													17	99	---	---	---	---					
AGO1	26523	broad.mit.edu	37	1	36379835	36379836	+	Frame_Shift_Ins	INS	-	-	C	rs35257283		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:36379835_36379836insC	ENST00000373204.4	+	14	2006_2007	c.1793_1794insC	c.(1792-1794)cccfs	p.P598fs	AGO1_ENST00000373206.1_Frame_Shift_Ins_p.P523fs	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		GATGTTACACACCCCCCAGCAG	0.490													7	267	---	---	---	---					
ASB17	127247	broad.mit.edu	37	1	76384701	76384701	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:76384701delG	ENST00000284142.6	-	3	963	c.824delC	c.(823-825)cafs	p.P275fs		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	275	SOCS box.				intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TATTCCATCTGGGAGCATATT	0.338													36	382	---	---	---	---					
GBP1	2633	broad.mit.edu	37	1	89520516	89520517	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:89520516_89520517insT	ENST00000370473.4	-	10	1732_1733	c.1513_1514insA	c.(1513-1515)gttfs	p.V505fs	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	505					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TTCCTGCAACATTTTTGCTGAA	0.436													7	1999	---	---	---	---					
COL11A1	1301	broad.mit.edu	37	1	103404607	103404607	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:103404607delC	ENST00000358392.2	-	44	3775	c.3458delG	c.(3457-3459)gtfs	p.G1153fs	COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G1025fs|COL11A1_ENST00000370096.3_Frame_Shift_Del_p.G1141fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G1102fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1141	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)		TCCCTTGTCACCCTTGCTGCC	0.338													45	464	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181549749	181549750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:181549749_181549750insC	ENST00000526775.1	+	6	953_954	c.788_789insC	c.(787-789)gccfs	p.A263fs	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367573.2_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A263fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	263					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGATTTGACCCCCCTCACC	0.505													17	1138	---	---	---	---					
HMCN1	83872	broad.mit.edu	37	1	185956655	185956656	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:185956655_185956656insC	ENST00000271588.4	+	20	3256_3257	c.3027_3028insC	c.(3025-3030)aacgtcfs	p.V1010fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.V1010fs|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1010	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAATCCCAAACCGTCTGTCAT	0.436													198	366	---	---	---	---					
KCNH8	131096	broad.mit.edu	37	3	19554727	19554728	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:19554727_19554728insC	ENST00000328405.2	+	13	2611_2612	c.2345_2346insC	c.(2344-2346)gccfs	p.A782fs		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	782						integral to membrane	two-component sensor activity	p.N785fs*3(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGGAAATTGACCCCCCCAACC	0.470													9	122	---	---	---	---					
RRH	10692	broad.mit.edu	37	4	110763720	110763721	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:110763720_110763721insC	ENST00000317735.4	+	6	850_851	c.816_817insC	c.(814-819)ccccccfs	p.PP272fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	272					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		AGAAGATTCCTCCCCCCATGGC	0.416													7	653	---	---	---	---					
EGF	1950	broad.mit.edu	37	4	110915899	110915900	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:110915899_110915900insC	ENST00000265171.5	+	20	3313_3314	c.2868_2869insC	c.(2866-2871)ccccccfs	p.PP956fs	EGF_ENST00000509793.1_Frame_Shift_Ins_p.PP914fs|EGF_ENST00000503392.1_Frame_Shift_Ins_p.PP915fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	956					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ACTCTACTCCACCCCCTCACCT	0.431													7	908	---	---	---	---					
DROSHA	29102	broad.mit.edu	37	5	31526791	31526792	+	Frame_Shift_Ins	INS	-	-	G	rs149389256	by1000genomes	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:31526791_31526792insG	ENST00000511367.2	-	4	492_493	c.248_249insC	c.(247-249)cccfs	p.P83fs	DROSHA_ENST00000442743.1_Frame_Shift_Ins_p.P83fs|DROSHA_ENST00000344624.3_Frame_Shift_Ins_p.P83fs|DROSHA_ENST00000513349.1_Frame_Shift_Ins_p.P83fs	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	83	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GAGGCATGGGTGGGGGGAAGGG	0.574													7	177	---	---	---	---					
RXRB	6257	broad.mit.edu	37	6	33164224	33164224	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:33164224delC	ENST00000374680.3	-	5	1191	c.980delG	c.(979-981)gtfs	p.G327fs	RXRB_ENST00000544186.1_Frame_Shift_Del_p.G137fs|RXRB_ENST00000413614.2_Frame_Shift_Del_p.G231fs|RXRB_ENST00000374685.4_Frame_Shift_Del_p.G327fs	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	327	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GCTGCCGCTACCCCCGGTTCC	0.622													32	189	---	---	---	---					
EEF1A1	1915	broad.mit.edu	37	6	74229134	74229136	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:74229134_74229136delTGC	ENST00000316292.9	-	2	1239_1241	c.248_250delGCA	c.(247-252)aag>a	p.SK83del	EEF1A1_ENST00000309268.6_In_Frame_Del_p.SK83del|EEF1A1_ENST00000331523.2_In_Frame_Del_p.SK83del|EEF1A1_ENST00000491404.1_5'UTR	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	83				S -> A (in Ref. 6; CAA27325).		cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACATAGTACTTGCTGGTCTCAAA	0.429											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	30	---	---	---	---					
RFX6	222546	broad.mit.edu	37	6	117250016	117250017	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:117250016_117250017insC	ENST00000332958.2	+	18	2509_2510	c.2493_2494insC	c.(2491-2496)ctccccfs	p.LP831fs		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	831					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCGTTCACTGCCCCCCTACAG	0.455													7	296	---	---	---	---					
DFNA5	1687	broad.mit.edu	37	7	24784270	24784271	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:24784270_24784271insC	ENST00000342947.3	-	3	739_740	c.314_315insG	c.(313-315)gagfs	p.E105fs	DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409775.3_Frame_Shift_Ins_p.E105fs|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	105					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CGCGGCTGCTGCCCCCCAGGTT	0.559													10	363	---	---	---	---					
VPS13A	23230	broad.mit.edu	37	9	79836219	79836219	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:79836219delA	ENST00000360280.3	+	13	1368	c.1108delA	c.(1108-1110)aafs	p.K372fs	VPS13A_ENST00000376634.4_Frame_Shift_Del_p.K372fs|VPS13A_ENST00000376636.3_Frame_Shift_Del_p.K372fs|VPS13A_ENST00000357409.5_Frame_Shift_Del_p.K372fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	372					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGAACTGTATAAAAAAAAGTT	0.353													9	188	---	---	---	---					
GRID1	2894	broad.mit.edu	37	10	87407105	87407105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:87407105delG	ENST00000327946.7	-	13	2132	c.2047delC	c.(2047-2049)ggfs	p.R683fs	GRID1_ENST00000536331.1_Frame_Shift_Del_p.R254fs|RP11-93H12.4_ENST00000474115.2_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	683						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCAGAATCCCGGACAGTGCCA	0.532										Multiple Myeloma(13;0.14)			234	1523	---	---	---	---					
CYP2C18	1562	broad.mit.edu	37	10	96480183	96480184	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:96480183_96480184insT	ENST00000285979.6	+	6	1049_1050	c.850_851insT	c.(850-852)tgafs	p.*284fs	CYP2C18_ENST00000339022.5_Frame_Shift_Ins_p.*225fs|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TGAATTTACTGTTGAAAGCTTG	0.361													61	157	---	---	---	---					
OR4P4	81300	broad.mit.edu	37	11	55406728	55406728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:55406728delG	ENST00000314612.2	+	1	895	c.895delG	c.(895-897)tgfs	p.V299fs		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CATGAGGAAAGTGTGGTGTTG	0.393													116	158	---	---	---	---					
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:62458782_62458783insC	ENST00000433053.1	-	8	1530_1531	c.974_975insG	c.(973-975)gatfs	p.D325fs	BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000278893.7_Intron|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559													9	99	---	---	---	---					
AMOTL1	154810	broad.mit.edu	37	11	94533454	94533455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:94533454_94533455insC	ENST00000433060.2	+	3	1239_1240	c.1098_1099insC	c.(1096-1101)ccccccfs	p.PP366fs	AMOTL1_ENST00000317837.9_Frame_Shift_Ins_p.PP366fs|AMOTL1_ENST00000317829.8_Frame_Shift_Ins_p.PP316fs	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	366						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GGTACCAGCCACCCCCTGAGTA	0.500													10	1238	---	---	---	---					
MMP13	4322	broad.mit.edu	37	11	102820917	102820918	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:102820917_102820918insT	ENST00000260302.3	-	6	866_867	c.838_839insA	c.(838-840)gccfs	p.A280fs	MMP13_ENST00000340273.4_Frame_Shift_Ins_p.A280fs	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	280					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TTTGTCTGGCGTTTTTGGATGT	0.431													7	1931	---	---	---	---					
AKAP3	10566	broad.mit.edu	37	12	4736153	4736154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:4736153_4736154insG	ENST00000545990.2	-	5	2438_2439	c.1914_1915insC	c.(1912-1917)ccggctfs	p.A639fs	AKAP3_ENST00000228850.1_Frame_Shift_Ins_p.A639fs	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	639					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCATATAGCCTGGGGGGAGAAG	0.540													7	250	---	---	---	---					
UTP20	27340	broad.mit.edu	37	12	101727153	101727153	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:101727153delG	ENST00000261637.4	+	28	3666	c.3492delG	c.(3490-3492)ttfs	p.L1164fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1164					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATATCTTTTTGGACTGGGAAT	0.348													125	229	---	---	---	---					
GPALPP1	55425	broad.mit.edu	37	13	45580382	45580383	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr13:45580382_45580383insT	ENST00000361121.2	+	3	302_303	c.267_268insT	c.(265-270)ggttttfs	p.GF89fs	RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_Frame_Shift_Ins_p.GF89fs|KIAA1704_ENST00000357537.3_5'UTR			Q8IXQ4	K1704_HUMAN		89										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		atgatgatgGGTTTTTTGGACC	0.327													9	528	---	---	---	---					
RALGAPA1	253959	broad.mit.edu	37	14	36207803	36207804	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:36207803_36207804insT	ENST00000258840.6	-	12	1892_1893	c.1502_1503insA	c.(1501-1503)aggfs	p.R501fs	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Frame_Shift_Ins_p.R501fs|RALGAPA1_ENST00000389698.3_Frame_Shift_Ins_p.R501fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.R501fs			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	501					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTAGGAGCCGTTTTTTGCCCA	0.421													16	1946	---	---	---	---					
SAMD4A	23034	broad.mit.edu	37	14	55226889	55226890	+	Frame_Shift_Ins	INS	-	-	G	rs137951039	byFrequency	TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:55226889_55226890insG	ENST00000251091.5	+	5	1228_1229	c.923_924insG	c.(922-924)gggfs	p.G308fs	SAMD4A_ENST00000392067.3_Frame_Shift_Ins_p.G396fs|SAMD4A_ENST00000357634.3_Frame_Shift_Ins_p.G395fs|SAMD4A_ENST00000555192.1_5'UTR|SAMD4A_ENST00000554335.1_Frame_Shift_Ins_p.G396fs	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	396					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GACATCATCGAGGGGGGCAGCC	0.639													7	245	---	---	---	---					
ALDH1A2	8854	broad.mit.edu	37	15	58256170	58256177	+	Frame_Shift_Del	DEL	ATAGATGG	ATAGATGG	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr15:58256170_58256177delATAGATGG	ENST00000249750.4	-	9	1759_1766	c.992_999delCCATCTAT	c.(991-999)tfs	p.SIY331fs	ALDH1A2_ENST00000537372.1_Frame_Shift_Del_p.SIY310fs|ALDH1A2_ENST00000558231.1_Frame_Shift_Del_p.SIY302fs|ALDH1A2_ENST00000559517.1_Frame_Shift_Del_p.SIY235fs|ALDH1A2_ENST00000347587.3_Frame_Shift_Del_p.SIY293fs	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	331					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CAAACTCCTCATAGATGGACTCCTCCAC	0.562													12	100	---	---	---	---					
LINC01579	283682	broad.mit.edu	37	15	94310557	94310558	+	RNA	DEL	AG	AG	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr15:94310557_94310558delAG	ENST00000557481.2	-	0	540																											CAAGGGCACCAGAGAGAGAGAG	0.500													2	4	---	---	---	---					
ZG16B	124220	broad.mit.edu	37	16	2882139	2882139	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:2882139delA	ENST00000382280.3	+	4	685	c.606delA	c.(604-606)gcfs	p.A202fs	ZG16B_ENST00000572863.1_Frame_Shift_Del_p.A172fs	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	202						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CATACTCAGCAAACTCACCCG	0.552													35	24	---	---	---	---					
MEFV	4210	broad.mit.edu	37	16	3293233	3293233	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:3293233delG	ENST00000219596.1	-	10	2293	c.2254delC	c.(2254-2256)ttfs	p.L752fs	MEFV_ENST00000339854.4_Frame_Shift_Del_p.L572fs|MEFV_ENST00000536379.1_Frame_Shift_Del_p.L541fs|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	752	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	ATAGGTTGAAGGGGCCCAGAG	0.532													24	24	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5427618	5427619	+	RNA	DEL	AG	AG	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:5427618_5427619delAG	ENST00000569895.1	+	0	304																											agagagagacagagagagagag	0.559													2	4	---	---	---	---					
SMARCD2	6603	broad.mit.edu	37	17	61914346	61914346	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:61914346delT	ENST00000448276.2	-	4	768	c.503delA	c.(502-504)agfs	p.K168fs	SMARCD2_ENST00000323347.10_Frame_Shift_Del_p.K120fs|SMARCD2_ENST00000225742.9_Frame_Shift_Del_p.K93fs	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	168					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CTGGTCCAGCTTCCGCTCAAA	0.547													10	64	---	---	---	---					
MYO5B	4645	broad.mit.edu	37	18	47463659	47463659	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:47463659delT	ENST00000285039.7	-	15	2160	c.1861delA	c.(1861-1863)tgfs	p.M621fs		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	621	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGACTTTCATGGGGGGTCTG	0.572													101	757	---	---	---	---					
KIRREL2	84063	broad.mit.edu	37	19	36349458	36349458	+	Splice_Site	DEL	G	G	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:36349458delG	ENST00000360202.5	+	3	558	c.361_splice	c.e3+1	p.L120_splice	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Splice_Site_p.L120_splice|KIRREL2_ENST00000586102.2_Splice_Site_p.L120_splice|KIRREL2_ENST00000347900.6_Splice_Site_p.L70_splice|KIRREL2_ENST00000592409.1_Splice_Site_p.L120_splice	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	120					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCACGTGCTGGGTAAGGACC	0.602													24	58	---	---	---	---					
GGN	199720	broad.mit.edu	37	19	38877458	38877459	+	In_Frame_Ins	INS	-	-	GGC			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:38877458_38877459insGGC	ENST00000334928.6	-	3	575_576	c.443_444insGCC	c.(442-444)ccg>cGCCcg	p.147_148insR	GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	147	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATAGTTGCCGGGGCGGCGGCGG	0.708													3	3	---	---	---	---					
ZNF814	730051	broad.mit.edu	37	19	58385869	58385870	+	In_Frame_Ins	INS	-	-	ATA	rs145833019		TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:58385869_58385870insATA	ENST00000435989.2	-	3	1122_1123	c.888_889insTAT	c.(886-891)caaatg>caTATaatg	p.296_296Q>HI	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	296				H -> HY (in Ref. 1; BAH13293 and 3; EAW72539).	regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCTCCACATTCATGTTTTTTTT	0.361													3	4	---	---	---	---					
HSPA12B	116835	broad.mit.edu	37	20	3722946	3722947	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr20:3722946_3722947insC	ENST00000254963.2	+	4	302_303	c.157_158insC	c.(157-159)cccfs	p.P53fs	HSPA12B_ENST00000542646.1_Intron	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	53							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CGAGGTCCGAGCCCCCCAGCAG	0.594													7	814	---	---	---	---					
TSHZ2	128553	broad.mit.edu	37	20	51872444	51872445	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr20:51872444_51872445insC	ENST00000371497.5	+	2	3334_3335	c.2447_2448insC	c.(2446-2448)gccfs	p.A816fs	TSHZ2_ENST00000329613.6_Frame_Shift_Ins_p.A813fs|TSHZ2_ENST00000603338.2_Frame_Shift_Ins_p.A813fs	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	816					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCCTCCAGGGTCCCCCCCATGA	0.550													9	183	---	---	---	---					
MAGEB1	4112	broad.mit.edu	37	X	30269510	30269510	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:30269510delC	ENST00000378981.3	+	4	1221	c.900delC	c.(898-900)ttfs	p.F300fs	MAGEB1_ENST00000397550.1_Frame_Shift_Del_p.F300fs|MAGEB1_ENST00000397548.2_Frame_Shift_Del_p.F300fs	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	300	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCCGTGACTTCCCATCCCATT	0.512													77	217	---	---	---	---					
DGKK	139189	broad.mit.edu	37	X	50213327	50213328	+	RNA	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:50213327_50213328insG	ENST00000376025.2	-	0	409_410							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					actctgtggcaggttctggggc	0.683													2	4	---	---	---	---					
KIAA1210	57481	broad.mit.edu	37	X	118222495	118222496	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:118222495_118222496insA	ENST00000402510.2	-	11	2696_2697	c.2697_2698insT	c.(2695-2700)ccaagafs	p.R900fs		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	900										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTCTGCTCTTCAGGAGTATTAT	0.505													25	25	---	---	---	---					
PLAC1	10761	broad.mit.edu	37	X	133700357	133700358	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:133700357_133700358insG	ENST00000359237.4	-	3	640_641	c.355_356insC	c.(355-357)aaafs	p.K119fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	119					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TGGGGACTTTTGGGGGGCAGCA	0.530													7	301	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-44-2659-01A-01W-0928-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95e5e400-76a6-4a7c-a8b5-c5f93000d950	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													8	673	---	---	---	---					
ASB17	127247	broad.mit.edu	37	1	76384701	76384701	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:76384701delG	ENST00000284142.6	-	3	963	c.824delC	c.(823-825)cafs	p.P275fs		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	275	SOCS box.				intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TATTCCATCTGGGAGCATATT	0.338													17	144	---	---	---	---					
COL11A1	1301	broad.mit.edu	37	1	103404607	103404607	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:103404607delC	ENST00000358392.2	-	44	3775	c.3458delG	c.(3457-3459)gtfs	p.G1153fs	COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G1102fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G1025fs|COL11A1_ENST00000370096.3_Frame_Shift_Del_p.G1141fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1141	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)		TCCCTTGTCACCCTTGCTGCC	0.338													20	204	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975806	152975829	+	In_Frame_Del	DEL	CCAGGCTACACCAAGGTCCCTGAA	CCAGGCTACACCAAGGTCCCTGAA	-	rs1970328	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	ENST00000331860.3	+	3	460_483	c.310_333delCCAGGCTACACCAAGGTCCCTGAA	c.(310-333)del	p.PGYTKVPE104del	SPRR3_ENST00000295367.4_In_Frame_Del_p.PGYTKVPE104del|SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	104	14 X 8 AA approximate tandem repeats.		Missing.		keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.Y106C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA	0.567													18	136	---	---	---	---					
ATP1A2	477	broad.mit.edu	37	1	160085661	160085662	+	Splice_Site	DEL	GG	GG	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:160085661_160085662delGG	ENST00000361216.3	+	1	99_100	c.12_splice	c.e1+1	p.G4_splice	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Splice_Site_p.G4_splice	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	4					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GATGGGCCGTGGGGTGAGTATC	0.624													8	17	---	---	---	---					
HMCN1	83872	broad.mit.edu	37	1	185956655	185956656	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:185956655_185956656insC	ENST00000271588.4	+	20	3256_3257	c.3027_3028insC	c.(3025-3030)aacgtcfs	p.V1010fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.V1010fs|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1010	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAATCCCAAACCGTCTGTCAT	0.436													127	172	---	---	---	---					
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gttcagfs	p.Q320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545													4	8	---	---	---	---					
HSPD1P6	645548	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:36810381delT	ENST00000424886.1	-	0	405																											GAGTGAGGCCttttttttttt	0.542													2	4	---	---	---	---					
SMARCC1	6599	broad.mit.edu	37	3	47632266	47632266	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:47632266delG	ENST00000254480.5	-	27	3224	c.3105delC	c.(3103-3105)ccfs	p.P1035fs	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	1035	Pro-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTGCAACAGTGGGAATCATGC	0.567													18	110	---	---	---	---					
FAM86JP	100125556	broad.mit.edu	37	3	125642892	125642893	+	RNA	INS	-	-	AGAC	rs56865221		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr3:125642892_125642893insAGAC	ENST00000485843.1	+	0	332					NR_024251.1																						ACTGCCAACTTAGCCCCAGAGT	0.554													11	57	---	---	---	---					
SEC24D	9871	broad.mit.edu	37	4	119745869	119745870	+	Frame_Shift_Ins	INS	-	-	G	rs141446866		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr4:119745869_119745870insG	ENST00000379735.5	-	3	424_425	c.153_154insC	c.(151-156)acccacfs	p.H52fs	SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.H52fs|SEC24D_ENST00000419654.2_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	52	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CCCCTAGTGGCGGTGGCCCCCA	0.540													10	337	---	---	---	---					
PCDHGA5	56110	broad.mit.edu	37	5	140745002	140745002	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr5:140745002delT	ENST00000518069.1	+	1	1105	c.1105delT	c.(1105-1107)ttfs	p.F369fs	PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCGCGCTGTTTAGCGTACA	0.443													21	68	---	---	---	---					
RXRB	6257	broad.mit.edu	37	6	33164224	33164224	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:33164224delC	ENST00000374680.3	-	5	1191	c.980delG	c.(979-981)gtfs	p.G327fs	RXRB_ENST00000544186.1_Frame_Shift_Del_p.G137fs|RXRB_ENST00000413614.2_Frame_Shift_Del_p.G231fs|RXRB_ENST00000374685.4_Frame_Shift_Del_p.G327fs	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	327	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GCTGCCGCTACCCCCGGTTCC	0.622													75	352	---	---	---	---					
EEF1A1	1915	broad.mit.edu	37	6	74229134	74229136	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr6:74229134_74229136delTGC	ENST00000316292.9	-	2	1239_1241	c.248_250delGCA	c.(247-252)aag>a	p.SK83del	EEF1A1_ENST00000309268.6_In_Frame_Del_p.SK83del|EEF1A1_ENST00000331523.2_In_Frame_Del_p.SK83del|EEF1A1_ENST00000491404.1_5'UTR	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	83				S -> A (in Ref. 6; CAA27325).		cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACATAGTACTTGCTGGTCTCAAA	0.429											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	24	119	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6771664	6771664	+	RNA	DEL	T	T	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:6771664delT	ENST00000486256.1	+	0	619					NR_002217.1																						GGATTCCTACttttttttttc	0.413													9	193	---	---	---	---					
POM121	9883	broad.mit.edu	37	7	72413723	72413724	+	In_Frame_Ins	INS	-	-	CTC	rs67569765	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr7:72413723_72413724insCTC	ENST00000395270.1	+	14	3437_3438	c.2396_2397insCTC	c.(2395-2397)ttt>tCTCtt	p.799_799F>SL	POM121_ENST00000358357.3_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000446813.1_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000257622.4_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000434423.2_In_Frame_Ins_p.1064_1064F>SL	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1064	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTGCTGTCTTCTTCGGTGCAG	0.663													10	76	---	---	---	---					
DFNB31	25861	broad.mit.edu	37	9	117185698	117185699	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr9:117185698_117185699insC	ENST00000362057.3	-	7	1689_1690	c.1521_1522insG	c.(1519-1524)caccccfs	p.H507fs	DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.H156fs|DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.H124fs	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	507					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGCCTGGGGGCTGCCGCGCCT	0.639													26	165	---	---	---	---					
GRID1	2894	broad.mit.edu	37	10	87407105	87407105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:87407105delG	ENST00000327946.7	-	13	2132	c.2047delC	c.(2047-2049)ggfs	p.R683fs	GRID1_ENST00000536331.1_Frame_Shift_Del_p.R254fs|RP11-93H12.4_ENST00000474115.2_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	683						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCAGAATCCCGGACAGTGCCA	0.532										Multiple Myeloma(13;0.14)			73	515	---	---	---	---					
CYP2C18	1562	broad.mit.edu	37	10	96480183	96480184	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr10:96480183_96480184insT	ENST00000285979.6	+	6	1049_1050	c.850_851insT	c.(850-852)tgafs	p.*284fs	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Frame_Shift_Ins_p.*225fs	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TGAATTTACTGTTGAAAGCTTG	0.361													20	52	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													12	21	---	---	---	---					
SPTY2D1	144108	broad.mit.edu	37	11	18636375	18636376	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:18636375_18636376insA	ENST00000336349.5	-	3	1680_1681	c.1445_1446insT	c.(1444-1446)tggfs	p.W482fs		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	482	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CCGGGGGGCCCAAGCCACTCAC	0.589													22	109	---	---	---	---					
OR4P4	81300	broad.mit.edu	37	11	55406728	55406728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr11:55406728delG	ENST00000314612.2	+	1	895	c.895delG	c.(895-897)tgfs	p.V299fs		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CATGAGGAAAGTGTGGTGTTG	0.393													47	71	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													7	17	---	---	---	---					
UTP20	27340	broad.mit.edu	37	12	101727153	101727153	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:101727153delG	ENST00000261637.4	+	28	3666	c.3492delG	c.(3490-3492)ttfs	p.L1164fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1164					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATATCTTTTTGGACTGGGAAT	0.348													54	130	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs	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													29	327	---	---	---	---					
GEMIN2	8487	broad.mit.edu	37	14	39601187	39601188	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr14:39601187_39601188insT	ENST00000308317.6	+	8	742_743	c.659_660insT	c.(658-660)gtgfs	p.V220fs	GEMIN2_ENST00000396249.2_Frame_Shift_Ins_p.V220fs|GEMIN2_ENST00000250379.8_Frame_Shift_Ins_p.V205fs	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	220					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding										GCTTTATTGGCTTGTCTTGAAA	0.351													12	350	---	---	---	---					
ALDH1A2	8854	broad.mit.edu	37	15	58256170	58256177	+	Frame_Shift_Del	DEL	ATAGATGG	ATAGATGG	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr15:58256170_58256177delATAGATGG	ENST00000249750.4	-	9	1759_1766	c.992_999delCCATCTAT	c.(991-999)tfs	p.SIY331fs	ALDH1A2_ENST00000558231.1_Frame_Shift_Del_p.SIY302fs|ALDH1A2_ENST00000559517.1_Frame_Shift_Del_p.SIY235fs|ALDH1A2_ENST00000537372.1_Frame_Shift_Del_p.SIY310fs|ALDH1A2_ENST00000347587.3_Frame_Shift_Del_p.SIY293fs	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	331					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CAAACTCCTCATAGATGGACTCCTCCAC	0.562													20	95	---	---	---	---					
ZG16B	124220	broad.mit.edu	37	16	2882139	2882139	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:2882139delA	ENST00000382280.3	+	4	685	c.606delA	c.(604-606)gcfs	p.A202fs	ZG16B_ENST00000572863.1_Frame_Shift_Del_p.A172fs	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	202						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CATACTCAGCAAACTCACCCG	0.552													122	114	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													20	471	---	---	---	---					
MEFV	4210	broad.mit.edu	37	16	3293233	3293233	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:3293233delG	ENST00000219596.1	-	10	2293	c.2254delC	c.(2254-2256)ttfs	p.L752fs	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Frame_Shift_Del_p.L541fs|MEFV_ENST00000339854.4_Frame_Shift_Del_p.L572fs	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	752	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	ATAGGTTGAAGGGGCCCAGAG	0.532													95	85	---	---	---	---					
ZNF423	23090	broad.mit.edu	37	16	49669923	49669923	+	Frame_Shift_Del	DEL	G	G	-	rs111229124	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:49669923delG	ENST00000561648.1	-	4	3193	c.3140delC	c.(3139-3141)ggfs	p.A1047fs	ZNF423_ENST00000262383.2_Frame_Shift_Del_p.A1047fs|ZNF423_ENST00000563137.2_Frame_Shift_Del_p.A987fs|ZNF423_ENST00000562520.1_Frame_Shift_Del_p.A987fs|ZNF423_ENST00000567169.1_Frame_Shift_Del_p.A930fs|ZNF423_ENST00000535559.1_Frame_Shift_Del_p.A930fs|ZNF423_ENST00000562871.1_Frame_Shift_Del_p.A987fs	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1047					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)				TGAGCTGCCCGCCAGCTTCTG	0.617													8	60	---	---	---	---					
NUDT21	11051	broad.mit.edu	37	16	56485075	56485076	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:56485075_56485076insC	ENST00000300291.5	-	1	211_212	c.39_40insG	c.(37-42)tgcccgfs	p.C13fs		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	13	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						ACCCCCCGGGGCCAGCCGGTCT	0.658													45	200	---	---	---	---					
LCAT	3931	broad.mit.edu	37	16	67973970	67973971	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr16:67973970_67973971insG	ENST00000264005.5	-	6	1188_1189	c.1159_1160insC	c.(1159-1161)gccfs	p.A387fs		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	387					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		AGGCTGTGGCTGGCGGCCCTGC	0.629													7	211	---	---	---	---					
SMARCD2	6603	broad.mit.edu	37	17	61914346	61914346	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr17:61914346delT	ENST00000448276.2	-	4	768	c.503delA	c.(502-504)agfs	p.K168fs	SMARCD2_ENST00000323347.10_Frame_Shift_Del_p.K120fs|SMARCD2_ENST00000225742.9_Frame_Shift_Del_p.K93fs	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	168					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CTGGTCCAGCTTCCGCTCAAA	0.547													10	165	---	---	---	---					
MYO5B	4645	broad.mit.edu	37	18	47463659	47463659	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr18:47463659delT	ENST00000285039.7	-	15	2160	c.1861delA	c.(1861-1863)tgfs	p.M621fs		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	621	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGACTTTCATGGGGGGTCTG	0.572													23	237	---	---	---	---					
ZSWIM4	65249	broad.mit.edu	37	19	13941600	13941601	+	Frame_Shift_Ins	INS	-	-	A	rs34386645		TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:13941600_13941601insA	ENST00000254323.2	+	13	2895_2896	c.2706_2707insA	c.(2704-2709)gcagccfs	p.A903fs	ZSWIM4_ENST00000440752.2_Frame_Shift_Ins_p.A737fs	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	903							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GCCGGGCCGCCAAGCCACTGGG	0.693													8	104	---	---	---	---					
KIRREL2	84063	broad.mit.edu	37	19	36349458	36349458	+	Splice_Site	DEL	G	G	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:36349458delG	ENST00000360202.5	+	3	558	c.361_splice	c.e3+1	p.L120_splice	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Splice_Site_p.L120_splice|KIRREL2_ENST00000586102.2_Splice_Site_p.L120_splice|KIRREL2_ENST00000592409.1_Splice_Site_p.L120_splice|KIRREL2_ENST00000347900.6_Splice_Site_p.L70_splice	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	120					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCACGTGCTGGGTAAGGACC	0.602													42	85	---	---	---	---					
GGN	199720	broad.mit.edu	37	19	38877458	38877459	+	In_Frame_Ins	INS	-	-	GGC			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:38877458_38877459insGGC	ENST00000334928.6	-	3	575_576	c.443_444insGCC	c.(442-444)ccg>cGCCcg	p.147_148insR	GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	147	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATAGTTGCCGGGGCGGCGGCGG	0.708													7	21	---	---	---	---					
FAM98C	147965	broad.mit.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:38899502_38899504delAAG	ENST00000252530.5	+	8	1049_1051	c.1030_1032delAAG	c.(1030-1032)del	p.K349del	FAM98C_ENST00000588262.1_3'UTR|FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606													9	91	---	---	---	---					
LILRB3	11025	broad.mit.edu	37	19	54723027	54723029	+	In_Frame_Del	DEL	CGT	CGT	-	rs61734492	byFrequency	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr19:54723027_54723029delCGT	ENST00000391750.1	-	9	1531_1533	c.1395_1397delACG	c.(1393-1398)cgt>cg	p.RR465del	LILRB3_ENST00000245620.9_In_Frame_Del_p.RR465del|LILRB3_ENST00000407860.2_In_Frame_Del_p.RR482del|LILRA6_ENST00000419410.2_In_Frame_Del_p.RR465del|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000440558.2_In_Frame_Del_p.RR465del|LILRB3_ENST00000424807.1_In_Frame_Del_p.RR465del|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000346401.6_In_Frame_Del_p.RR477del|LILRA6_ENST00000270464.5_In_Frame_Del_p.RR465del			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	465					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGACGCTGACGTCggaggagga	0.606													11	60	---	---	---	---					
DNMT3B	1789	broad.mit.edu	37	20	31384616	31384617	+	Frame_Shift_Ins	INS	-	-	G	rs150851562	by1000genomes	TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chr20:31384616_31384617insG	ENST00000328111.2	+	13	1639_1640	c.1318_1319insG	c.(1318-1320)gaafs	p.E440fs	DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.E432fs|DNMT3B_ENST00000375623.4_Splice_Site|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.E344fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.E420fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.E420fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.E378fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.E420fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	440	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				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						GTCTTGTGGCAGGAAAAACCCC	0.559													8	224	---	---	---	---					
MAGEB1	4112	broad.mit.edu	37	X	30269510	30269510	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:30269510delC	ENST00000378981.3	+	4	1221	c.900delC	c.(898-900)ttfs	p.F300fs	MAGEB1_ENST00000397550.1_Frame_Shift_Del_p.F300fs|MAGEB1_ENST00000397548.2_Frame_Shift_Del_p.F300fs	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	300	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCCGTGACTTCCCATCCCATT	0.512													17	99	---	---	---	---					
KIAA1210	57481	broad.mit.edu	37	X	118222495	118222496	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2659-01A-01D-0969-08	TCGA-44-2659-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08e36a23-6c3a-4e68-823f-8dc728d37aeb	4c4f7bb9-5653-4569-850b-578b001e909b	g.chrX:118222495_118222496insA	ENST00000402510.2	-	11	2696_2697	c.2697_2698insT	c.(2695-2700)ccaagafs	p.R900fs		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	900										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTCTGCTCTTCAGGAGTATTAT	0.505													30	36	---	---	---	---					
