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
EGFL6	25975	broad.mit.edu	37	X	13636140	13636140	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:13636140T>A	ENST00000361306.1	+	8	1327	c.1070T>A	c.(1069-1071)aTa>aAa	p.I357K	EGFL6_ENST00000380602.3_Missense_Mutation_p.I357K	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	357					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	p.I357K(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AAGAATGACATAGAGGAGCGA	0.388000													18	34					0	0	0.010504	0	0
EYS	346007	broad.mit.edu	37	6	66054071	66054071	+	Splice_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:66054071C>A	ENST00000503581.1	-	10	1997		c.e10-1		EYS_ENST00000370621.3_Splice_Site|EYS_ENST00000393380.2_Splice_Site|EYS_ENST00000370616.2_Splice_Site|EYS_ENST00000370618.3_Splice_Site|EYS_ENST00000342421.5_Splice_Site	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)						response to stimulus|visual perception	extracellular region	calcium ion binding	p.?(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CCTTCAGATCCTTTAAAAAAA	0.323000													10	37					1.58986e-06	2.00323e-06	0.008291	1	0
TLR4	7099	broad.mit.edu	37	9	120476557	120476557	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:120476557C>T	ENST00000355622.6	+	3	2252	c.2151C>T	c.(2149-2151)gcC>gcT	p.A717A	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.A677A	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	717	TIR.				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.A717D(1)		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						CCGGTGTGGCCATTGCTGCCA	0.468000													39	95					0	0	0.004878	0	0
CRISP3	10321	broad.mit.edu	37	6	49696492	49696492	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:49696492A>G	ENST00000433368.2	-	8	827	c.758T>C	c.(757-759)gTc>gCc	p.V253A	CRISP3_ENST00000371159.4_Missense_Mutation_p.V261A|CRISP3_ENST00000393666.1_Missense_Mutation_p.V230A|CRISP3_ENST00000263045.4_Missense_Mutation_p.V243A|CRISP3_ENST00000423399.2_Missense_Mutation_p.V140A	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	230					innate immune response	proteinaceous extracellular matrix|specific granule		p.V230A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ACTGTCCCTGACCAACTGATG	0.383000													13	82					0	0	0.001368	0	0
VPS16	64601	broad.mit.edu	37	20	2847154	2847154	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:2847154G>T	ENST00000380445.3	+	24	2526	c.2454G>T	c.(2452-2454)acG>acT	p.T818T	VPS16_ENST00000380443.3_Silent_p.T504T|PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380469.3_Silent_p.T674T	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	818					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		p.T818T(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCCACTGCACGGGAGCCACAG	0.572000													13	97					9.05144e-12	1.34656e-11	0.001855	1	0
DCTN4	51164	broad.mit.edu	37	5	150138538	150138538	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:150138538C>T	ENST00000447998.2	-	1	133	c.18G>A	c.(16-18)caG>caA	p.Q6Q	DCTN4_ENST00000446090.2_Silent_p.Q6Q	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	6						centrosome|nucleus	protein N-terminus binding	p.Q6Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCGGTCCGACTGCAGCAAGG	0.622000													8	43					0	0	0.003080	0	0
KANK4	163782	broad.mit.edu	37	1	62739519	62739519	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:62739519G>T	ENST00000371153.4	-	3	1635	c.1257C>A	c.(1255-1257)gtC>gtA	p.V419V	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	419								p.V419V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AGAGTCCATGGACAGGGTCAG	0.542000													41	165					1.04594e-18	1.7582e-18	0.006230	1	0
NPHS1	4868	broad.mit.edu	37	19	36339975	36339975	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:36339975G>T	ENST00000378910.5	-	8	914	c.915C>A	c.(913-915)acC>acA	p.T305T	NPHS1_ENST00000353632.6_Silent_p.T305T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	305	Ig-like C2-type 3.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.T305T(1)		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)			CTGGCCTCACGGTCATCACCA	0.662000													14	75					3.27435e-08	4.38092e-08	0.002450	1	0
RHBDD2	57414	broad.mit.edu	37	7	75517545	75517545	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:75517545G>T	ENST00000318622.4	+	5	1179	c.550G>T	c.(550-552)Ggc>Tgc	p.G184C	RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000428119.1_Missense_Mutation_p.G184C|RHBDD2_ENST00000006777.6_Missense_Mutation_p.G325C	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	325						integral to membrane	serine-type endopeptidase activity	p.G325C(1)|p.G184C(1)		kidney(1)|lung(4)|prostate(1)	6						AGCTTCTGCGGGCACCTCCCT	0.652000													25	72					7.92952e-12	1.1833e-11	0.003954	1	0
PKLR	5313	broad.mit.edu	37	1	155269918	155269918	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:155269918G>A	ENST00000392414.3	-	2	274	c.161C>T	c.(160-162)gCt>gTt	p.A54V	PKLR_ENST00000342741.4_Missense_Mutation_p.A85V	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	85					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.A85V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GGTACTGCGAGCAGCCACGGG	0.567000													6	97					0	0	0.001168	0	0
OR5F1	338674	broad.mit.edu	37	11	55761719	55761719	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:55761719C>T	ENST00000278409.1	-	1	382	c.383G>A	c.(382-384)cGc>cAc	p.R128H		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R128H(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)					AAGCAGCGGGCGACATATGGC	0.517000													16	54					0	0	0.004007	0	0
DHX37	57647	broad.mit.edu	37	12	125449018	125449018	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:125449018C>T	ENST00000308736.2	-	15	2065	c.1967G>A	c.(1966-1968)cGt>cAt	p.R656H	DHX37_ENST00000544745.1_Missense_Mutation_p.R443H	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	656	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R656H(1)		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)		CCAGGTGACACGGAAGGAGGA	0.632000													10	65					0	0	0.006214	0	0
HCN1	348980	broad.mit.edu	37	5	45267278	45267278	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:45267278C>A	ENST00000303230.4	-	7	1753	c.1696G>T	c.(1696-1698)Gtg>Ttg	p.V566L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	566						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.V566L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AAATTGTCCACGGAAAGTGAG	0.428000													17	84					4.7546e-09	6.55511e-09	0.004007	1	0
FAM120B	84498	broad.mit.edu	37	6	170697491	170697491	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:170697491G>T	ENST00000476287.1	+	7	2508	c.2400G>T	c.(2398-2400)atG>atT	p.M800I	FAM120B_ENST00000252510.9_Missense_Mutation_p.M132I|FAM120B_ENST00000537664.1_Missense_Mutation_p.M823I|FAM120B_ENST00000540480.1_Missense_Mutation_p.M812I	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	800					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.M800I(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GTGATTTCATGCCCTGGAATG	0.498000													23	34					1.37657e-19	2.34664e-19	0.012319	1	0
MYH8	4626	broad.mit.edu	37	17	10304708	10304708	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:10304708C>G	ENST00000403437.2	-	24	3086	c.2992G>C	c.(2992-2994)Gag>Cag	p.E998Q	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	998					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.E998Q(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						GCCTTCTTCTCCTTGGACAGT	0.453000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				9	182					0	0	0.004482	0	0
PTPRD	5789	broad.mit.edu	37	9	8341911	8341911	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:8341911T>C	ENST00000381196.4	-	37	5272	c.4729A>G	c.(4729-4731)Aaa>Gaa	p.K1577E	PTPRD_ENST00000360074.4_Missense_Mutation_p.K1564E|PTPRD_ENST00000486161.1_Missense_Mutation_p.K1170E|PTPRD_ENST00000540109.1_Missense_Mutation_p.K1577E|PTPRD_ENST00000397606.3_Missense_Mutation_p.K1170E|PTPRD_ENST00000356435.5_Missense_Mutation_p.K1577E|PTPRD_ENST00000537002.1_Missense_Mutation_p.K1167E|PTPRD_ENST00000397617.3_Missense_Mutation_p.K1170E|PTPRD_ENST00000397611.3_Missense_Mutation_p.K1167E|PTPRD_ENST00000355233.5_Missense_Mutation_p.K1171E|PTPRD_ENST00000358503.5_Missense_Mutation_p.K1555E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1577	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.K1577E(2)|p.K1171E(1)|p.K1048E(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTACAGTTTTTTCATGCTTT	0.388000										TSP Lung(15;0.13)			7	126					0	0	0.003080	0	0
POLR2A	5430	broad.mit.edu	37	17	7405315	7405315	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:7405315G>T	ENST00000322644.6	+	15	2845	c.2446G>T	c.(2446-2448)Ggg>Tgg	p.G816W		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	816					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	p.G816W(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGATGACTACGGGCCTGAGAG	0.572000													23	10					1.55795e-14	2.45376e-14	0.012319	1	0
AKAP14	158798	broad.mit.edu	37	X	119053906	119053906	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:119053906C>T	ENST00000371431.3	+	6	748	c.474C>T	c.(472-474)gaC>gaT	p.D158D	AKAP14_ENST00000371423.2_Silent_p.D99D|AKAP14_ENST00000334356.2_Silent_p.D98D|AKAP14_ENST00000371425.4_Silent_p.D98D|AKAP14_ENST00000491105.1_3'UTR	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	158						cytoplasm		p.D158D(1)		endometrium(4)|large_intestine(1)|lung(8)	13						ATGTAGGTGACCACCAAGCAT	0.413000													15	89					0	0	0.004007	0	0
TBRG4	9238	broad.mit.edu	37	7	45145229	45145229	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:45145229C>T	ENST00000258770.3	-	3	667	c.546G>A	c.(544-546)aaG>aaA	p.K182K	TBRG4_ENST00000361278.3_Silent_p.K182K|TBRG4_ENST00000494076.1_Silent_p.K182K|TBRG4_ENST00000395655.4_Silent_p.K182K	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	182					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity	p.K182K(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						AGGCCAGGTGCTTGTACTTGA	0.627000													28	51					0	0	0.004656	0	0
CDH9	1007	broad.mit.edu	37	5	26988225	26988225	+	Silent	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:26988225T>C	ENST00000231021.4	-	2	388	c.216A>G	c.(214-216)caA>caG	p.Q72Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	72	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q72Q(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGCCTACATATTGTGTGTCAG	0.373000													6	20					0	0	0.001168	0	0
SLC1A2	6506	broad.mit.edu	37	11	35308338	35308338	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:35308338C>G	ENST00000278379.3	-	8	1534	c.1252G>C	c.(1252-1254)Gtt>Ctt	p.V418L	SLC1A2_ENST00000395750.1_Missense_Mutation_p.V409L|SLC1A2_ENST00000395753.1_Missense_Mutation_p.V409L|SLC1A2_ENST00000606205.1_Missense_Mutation_p.V418L	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	418					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.V418L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TCCAGGACAACACCATTCATT	0.473000													26	118					0	0	0.003330	0	0
EGFL8	80864	broad.mit.edu	37	6	32135410	32135410	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:32135410T>A	ENST00000395512.1	+	8	917	c.812T>A	c.(811-813)cTg>cAg	p.L271Q	EGFL8_ENST00000333845.6_Missense_Mutation_p.L271Q|PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000489721.1_Intron			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	271						extracellular region|integral to membrane	calcium ion binding	p.L271Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CAGGTGCTGCTGCTGGAGGAG	0.627000													27	15					0	0	0.004656	0	0
LOC442028	442028	broad.mit.edu	37	2	95601068	95601068	+	RNA	SNP	G	G	T	rs149834505	by1000genomes	TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:95601068G>T	ENST00000568768.1	-	0	179																											TACCTTTCCCGTTCTGGAAAA	0.353000													3	24					0.004672	0.00511309	0.004672	1	0
OR4M1	441670	broad.mit.edu	37	14	20248529	20248529	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:20248529C>A	ENST00000315957.4	+	1	129	c.48C>A	c.(46-48)ggC>ggA	p.G16G		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L17V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTCACTGGCCTATCCCAGA	0.338000													42	151					2.47872e-24	4.4287e-24	0.010771	1	0
MUC16	94025	broad.mit.edu	37	19	9089859	9089859	+	Silent	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:9089859A>G	ENST00000397910.4	-	1	2159	c.1956T>C	c.(1954-1956)tcT>tcC	p.S652S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	652	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S652S(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						TCACTGCTGGAGACACGGAGA	0.542000													13	84					0	0	0.001855	0	0
DMRTA1	63951	broad.mit.edu	37	9	22451693	22451693	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:22451693G>C	ENST00000325870.1	+	2	1523	c.1298G>C	c.(1297-1299)gGt>gCt	p.G433A		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	433					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.G433A(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		CCTAGAGTAGGTATCAGTCCA	0.418000													44	74					0	0	0.010771	0	0
KIF3B	9371	broad.mit.edu	37	20	30919105	30919105	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:30919105G>T	ENST00000375712.3	+	9	2394	c.2227G>T	c.(2227-2229)Ggg>Tgg	p.G743W	KIF3B_ENST00000418717.2_Missense_Mutation_p.G369W	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	743	Globular.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	p.G743W(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACAGTCTCGGGGGCTGGTTCC	0.517000													21	121					1.36565e-18	2.28501e-18	0.002780	1	0
CES5A	221223	broad.mit.edu	37	16	55903522	55903522	+	Splice_Site	SNP	C	C	G	rs144674577		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:55903522C>G	ENST00000521992.1	-	5	784		c.e5+1		CES5A_ENST00000541580.1_Intron|CES5A_ENST00000290567.9_Splice_Site|CES5A_ENST00000520435.1_Splice_Site|CES5A_ENST00000319165.9_Splice_Site|CES5A_ENST00000518005.1_Splice_Site	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A							extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.?(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GAGAGACTCACGTGAAGAAAC	0.562000													5	21					0	0	0.001168	0	0
TRMT11	60487	broad.mit.edu	37	6	126319437	126319437	+	Silent	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:126319437A>G	ENST00000334379.5	+	5	484	c.363A>G	c.(361-363)caA>caG	p.Q121Q	TRMT11_ENST00000368332.3_Silent_p.Q121Q|TRMT11_ENST00000450358.1_Silent_p.Q121Q	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	121					tRNA processing		methyltransferase activity|nucleic acid binding	p.Q121Q(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		CATTGACACAAGAAGAGAAAA	0.294000													8	31					0	0	0.003080	0	0
PTPRD	5789	broad.mit.edu	37	9	8633452	8633452	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:8633452C>G	ENST00000381196.4	-	11	760	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	PTPRD_ENST00000360074.4_Missense_Mutation_p.E73Q|PTPRD_ENST00000463477.1_Missense_Mutation_p.E73Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.E73Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.E73Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.E73Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.E73Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.E73Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.E73Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.E73Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.E73Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.E73Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	73	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E73Q(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCGTCAAACTCTATTACCTAT	0.448000										TSP Lung(15;0.13)			17	67					0	0	0.006122	0	0
RAF1	5894	broad.mit.edu	37	3	12645699	12645699	+	Missense_Mutation	SNP	G	G	C	rs80338796		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:12645699G>C	ENST00000251849.4	-	7	1209	c.770C>G	c.(769-771)tCg>tGg	p.S257W	RAF1_ENST00000542177.1_Missense_Mutation_p.S176W|RAF1_ENST00000442415.2_Missense_Mutation_p.S257W|RAF1_ENST00000534997.1_Missense_Mutation_p.S42W	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	257			S -> L (in NS5 and LEOPARD2; shows in vitro greater kinase activity and enhanced ERK activation than wild-type).		activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.S257L(3)|p.S257W(1)	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	TGTGGATGTCGACCTCTGCCT	0.527000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				38	73					0	0	0.004289	0	0
USPL1	10208	broad.mit.edu	37	13	31231663	31231663	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:31231663G>A	ENST00000255304.4	+	9	1791	c.1449G>A	c.(1447-1449)aaG>aaA	p.K483K		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	483					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.K483K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AAAGGCACAAGAAATTTGAAG	0.383000													4	71					0	0	0.009096	0	0
KRT10	3858	broad.mit.edu	37	17	38976659	38976659	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:38976659C>T	ENST00000269576.5	-	4	893	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	295	Gly-rich.|Linker 12.|Rod.				epidermis development		protein binding|structural constituent of epidermis	p.R295Q(1)		NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				GGACACATTTCGAAGGTCTTT	0.403000													18	198					0	0	0.004990	0	0
CXorf21	80231	broad.mit.edu	37	X	30577701	30577701	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:30577701T>A	ENST00000378962.3	-	3	1094	c.772A>T	c.(772-774)Aga>Tga	p.R258*		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	258								p.R258*(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TTCTTCTCTCTAGACACTTGA	0.418000													26	42					0	0	0.003954	0	0
TRPM6	140803	broad.mit.edu	37	9	77347647	77347647	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:77347647C>T	ENST00000451710.3	-	36	6031	c.5794G>A	c.(5794-5796)Gga>Aga	p.G1932R	TRPM6_ENST00000449912.2_Missense_Mutation_p.G1923R|TRPM6_ENST00000376871.3_Missense_Mutation_p.G765R|TRPM6_ENST00000361255.3_Missense_Mutation_p.G1923R|TRPM6_ENST00000376872.3_Missense_Mutation_p.G883R|TRPM6_ENST00000360774.1_Missense_Mutation_p.G1928R			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1928	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G1928R(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAATTTTCTCCAACACCTCAA	0.234000													7	30					0	0	0.001984	0	0
EPHA5	2044	broad.mit.edu	37	4	66213885	66213885	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:66213885C>T	ENST00000273854.3	-	15	3145	c.2545G>A	c.(2545-2547)Gca>Aca	p.A849T	EPHA5_ENST00000354839.4_Missense_Mutation_p.A827T|EPHA5_ENST00000432638.2_Missense_Mutation_p.A686T|EPHA5_ENST00000511294.1_Missense_Mutation_p.A850T	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	849	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.A849T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAAGCTATTGCTTCTGGGGCA	0.408000										TSP Lung(17;0.13)			11	97					0	0	0.008291	0	0
EGLN3	112399	broad.mit.edu	37	14	34419597	34419597	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:34419597C>A	ENST00000547327.2	-	1	690	c.362G>T	c.(361-363)gGa>gTa	p.G121V	EGLN3_ENST00000553215.1_Intron|EGLN3_ENST00000250457.3_Intron			Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	121	Fe2OG dioxygenase.				apoptosis	cytoplasm|nucleus	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|protein binding	p.?(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	CCGAGCGCGTCCTACCTTAGA	0.622000													24	24					1.10923e-09	1.55593e-09	0.002780	1	0
UGT1A8	54576	broad.mit.edu	37	2	234526371	234526371	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:234526371G>T	ENST00000373450.4	+	1	81	c.18G>T	c.(16-18)tgG>tgT	p.W6C		NM_019076.4	NP_061949.3												p.W6C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		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;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCACAGGGTGGACCAGCCCCA	0.562000													17	45					6.94344e-10	9.83485e-10	0.006122	1	0
PELI2	57161	broad.mit.edu	37	14	56763321	56763321	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:56763321G>T	ENST00000267460.4	+	6	986	c.700G>T	c.(700-702)Gaa>Taa	p.E234*		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	234					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	p.E234*(1)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GTTGTAGGTGGAAAGTGAGAC	0.443000													10	41					3.07112e-06	3.83294e-06	0.010729	1	0
CLDND1	56650	broad.mit.edu	37	3	98240144	98240144	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:98240144T>C	ENST00000503004.1	-	2	1004	c.125A>G	c.(124-126)aAt>aGt	p.N42S	CLDND1_ENST00000394181.2_Missense_Mutation_p.N42S|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000513287.1_Missense_Mutation_p.N42S|CLDND1_ENST00000511081.1_Intron|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000437922.1_Missense_Mutation_p.N65S|CLDND1_ENST00000510545.1_Missense_Mutation_p.N42S|CLDND1_ENST00000394180.2_Missense_Mutation_p.N42S|CLDND1_ENST00000394185.2_Missense_Mutation_p.N42S|CLDND1_ENST00000341181.6_Missense_Mutation_p.N42S|CLDND1_ENST00000507874.1_Missense_Mutation_p.N42S			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	42						integral to membrane		p.N42S(1)|p.N65S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						ATCACTGGAATTTTCTTGAAC	0.393000													20	51					0	0	0.008871	0	0
MCF2	4168	broad.mit.edu	37	X	138667243	138667243	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:138667243T>G	ENST00000520602.1	-	27	3192	c.2907A>C	c.(2905-2907)gaA>gaC	p.E969D	MCF2_ENST00000414978.1_Missense_Mutation_p.E969D|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000370576.4_Missense_Mutation_p.E909D|MCF2_ENST00000338585.6_Missense_Mutation_p.E925D|MCF2_ENST00000370573.4_Intron|MCF2_ENST00000519895.1_Missense_Mutation_p.E985D|MCF2_ENST00000370578.4_Missense_Mutation_p.E1054D			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	909					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.E985D(1)|p.E909D(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GCCTATTTTCTTCTTCATTTT	0.358000													8	159					0	0	0.003080	0	0
IBSP	3381	broad.mit.edu	37	4	88731761	88731761	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:88731761A>G	ENST00000226284.5	+	6	317	c.250A>G	c.(250-252)Act>Gct	p.T84A		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	84	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification			p.T84A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		TTAACAGGAGACTTCAAATGA	0.343000													3	68					0	0	0.004672	0	0
SLC38A2	54407	broad.mit.edu	37	12	46760912	46760912	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:46760912C>T	ENST00000256689.5	-	6	872	c.428G>A	c.(427-429)gGa>gAa	p.G143E	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	143					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.G143E(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TCCAACTAATCCAAATGCCTT	0.328000													11	91					0	0	0.008291	0	0
MAP3K19	80122	broad.mit.edu	37	2	135743912	135743912	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:135743912G>A	ENST00000375845.3	-	7	2560	c.2530C>T	c.(2530-2532)Cat>Tat	p.H844Y	MAP3K19_ENST00000392915.1_Missense_Mutation_p.H861Y|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.H731Y|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19									p.H196Y(1)|p.H844Y(1)									ATCTGGTGATGTAGCTCTTCA	0.418000													36	46					0	0	0.004289	0	0
KIR2DL3	3804	broad.mit.edu	37	19	55253716	55253716	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:55253716G>T	ENST00000342376.3	+	3	392	c.361G>T	c.(361-363)Gtc>Ttc	p.V121F	KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.V121F	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3									p.V121F(1)		breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TCTGGACATCGTCATCACAGG	0.522000													93	78					1.35261e-66	2.5925e-66	0.003610	1	0
IFNA21	3452	broad.mit.edu	37	9	21166573	21166573	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:21166573C>A	ENST00000380225.1	-	1	86	c.39G>T	c.(37-39)gtG>gtT	p.V13V		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	13					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.V13V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGTAGCTGAGCACCAGCACGG	0.512000													25	113					1.80694e-10	2.59748e-10	0.009535	1	0
PAK7	57144	broad.mit.edu	37	20	9546566	9546566	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:9546566G>T	ENST00000378429.3	-	6	2002	c.1456C>A	c.(1456-1458)Cag>Aag	p.Q486K	PAK7_ENST00000353224.5_Missense_Mutation_p.Q486K|PAK7_ENST00000378423.1_Missense_Mutation_p.Q486K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	486	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.Q486K(1)		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)			TCTCGTCTCTGTTGCTTCCGG	0.433000													44	105					4.64027e-19	7.83653e-19	0.003610	1	0
C3orf30	152405	broad.mit.edu	37	3	118865705	118865705	+	Silent	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:118865705T>C	ENST00000295622.1	+	1	709	c.669T>C	c.(667-669)tcT>tcC	p.S223S		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	223								p.S223S(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GAAGACCTTCTGTGCAGATTG	0.498000													26	92					0	0	0.003954	0	0
SORCS1	114815	broad.mit.edu	37	10	108439016	108439016	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:108439016G>C	ENST00000263054.6	-	12	1745	c.1738C>G	c.(1738-1740)Cag>Gag	p.Q580E	SORCS1_ENST00000369698.1_Missense_Mutation_p.Q115E|SORCS1_ENST00000344440.6_Missense_Mutation_p.Q580E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	580						integral to membrane	neuropeptide receptor activity|protein binding	p.Q580K(2)|p.Q580E(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTTCTTACCTGTCTCCAGGTG	0.418000													30	74					0	0	0.002836	0	0
PZP	5858	broad.mit.edu	37	12	9355209	9355209	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:9355209G>A	ENST00000261336.2	-	3	367	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_002864.2	NP_002855.2			pregnancy-zone protein									p.F113F(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						TCCTCTTCCTGAAATCTTGCG	0.453000													10	98					0	0	0.006214	0	0
EMC9	51016	broad.mit.edu	37	14	24608594	24608594	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:24608594G>A	ENST00000419198.2	-	4	695	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	EMC9_ENST00000216799.4_Missense_Mutation_p.R139C|EMC9_ENST00000560403.1_Missense_Mutation_p.R65C					ER membrane protein complex subunit 9									p.R139C(1)									GGGACCCAGCGGAGACCTTGG	0.562000													9	110					0	0	0.004482	0	0
GPR149	344758	broad.mit.edu	37	3	154139069	154139069	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:154139069G>A	ENST00000389740.2	-	3	1481	c.1382C>T	c.(1381-1383)tCt>tTt	p.S461F		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	461						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S461F(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCTGTCCAGAGAGGGCGTGGT	0.418000													78	233					0	0	0.003610	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127455	45127455	+	RNA	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:45127455C>T	ENST00000575173.1	-	0	418																											ATAAATTCCCCTTCACAAGGG	0.428000													22	188					0	0	0.005524	0	0
MAGI1	9223	broad.mit.edu	37	3	65416486	65416486	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:65416486G>C	ENST00000330909.8	-	11	1433	c.1434C>G	c.(1432-1434)agC>agG	p.S478R	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.S478R|MAGI1_ENST00000497477.2_Missense_Mutation_p.S478R|MAGI1_ENST00000402939.2_Missense_Mutation_p.S478R	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	478	PDZ 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.S478R(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AGCCACGACTGCTTTTCCGCA	0.463000													8	72					0	0	0.004482	0	0
TMEM11	8834	broad.mit.edu	37	17	21101848	21101848	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:21101848C>T	ENST00000317635.5	-	2	839	c.368G>A	c.(367-369)gGg>gAg	p.G123E	TMEM11_ENST00000584432.1_5'UTR	NM_003876.2	NP_003867.1	P17152	TMM11_HUMAN	transmembrane protein 11	123					mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding	p.G123E(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCAGGAGATCCCATAGAGGGT	0.597000													26	57					0	0	0.003330	0	0
PLCB4	5332	broad.mit.edu	37	20	9404403	9404403	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:9404403G>T	ENST00000378501.2	+	24	2307	c.2292G>T	c.(2290-2292)ctG>ctT	p.L764L	PLCB4_ENST00000414679.2_Silent_p.L776L|PLCB4_ENST00000378493.1_Silent_p.L764L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.L764L|PLCB4_ENST00000378473.3_Silent_p.L776L|PLCB4_ENST00000278655.4_Silent_p.L764L	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	764	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.L764L(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGGTGATCCTGCCGGACCTGG	0.498000													3	12					0.004672	0.00511309	0.004672	1	0
SUV39H2	79723	broad.mit.edu	37	10	14939285	14939285	+	Silent	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:14939285T>C	ENST00000313519.5	+	2	669	c.438T>C	c.(436-438)gcT>gcC	p.A146A	SUV39H2_ENST00000354919.6_Silent_p.A206A|SUV39H2_ENST00000378325.3_Intron	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	206					cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						CTGCTGAAGCTGGAGTTCTTT	0.408000													5	143					0	0	0.000602	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166952269	166952269	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:166952269C>T	ENST00000510118.1	-	4	518	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	RPS6KA2_ENST00000405189.3_5'UTR|RPS6KA2_ENST00000481261.2_5'UTR|RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.E43K|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.E35K			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	35	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|magnesium ion binding|protein serine/threonine kinase activity	p.E35K(1)|p.E35Q(1)|p.E43K(1)|p.E43Q(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ACGACGCCTTCTTCCTGCAAG	0.557000													4	93					0	0	0.009096	0	0
MPP1	4354	broad.mit.edu	37	X	154007498	154007498	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:154007498T>G	ENST00000413259.3	-	13	1657	c.1265A>C	c.(1264-1266)cAa>cCa	p.Q422P	MPP1_ENST00000369534.3_Missense_Mutation_p.Q452P|MPP1_ENST00000393531.1_Missense_Mutation_p.Q432P	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	452	Guanylate kinase-like.|Interaction with MPP5.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	p.Q452P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	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)					ACTGCACGCTTGGTCGAAGGC	0.498000													8	45					0	0	0.003080	0	0
CORO2A	7464	broad.mit.edu	37	9	100892076	100892076	+	Splice_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:100892076C>A	ENST00000343933.5	-	8	1224	c.967_splice	c.e8+1	p.G323_splice	CORO2A_ENST00000375077.4_Splice_Site_p.G323_splice	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	323					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	p.G323C(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				cCTCACTTACCGATCCCCTTC	0.582000													50	72					3.16986e-14	4.9817e-14	0.003610	1	0
OR2L8	391190	broad.mit.edu	37	1	248113076	248113076	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:248113076G>T	ENST00000357191.3	+	1	917	c.917G>T	c.(916-918)aGa>aTa	p.R306I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R306I(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTGAGTCAGAGAATCTGCTCT	0.458000													16	49					1.40151e-16	2.27157e-16	0.010504	1	0
RIT2	6014	broad.mit.edu	37	18	40323655	40323655	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr18:40323655G>T	ENST00000326695.5	-	5	628	c.457C>A	c.(457-459)Caa>Aaa	p.Q153K	RIT2_ENST00000590910.1_3'UTR|RIT2_ENST00000589109.1_3'UTR	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	153					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.Q153K(1)		endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTATATTCTTGGGCAAGACTC	0.358000													19	28					3.99206e-14	6.23329e-14	0.007413	1	0
TRRAP	8295	broad.mit.edu	37	7	98515286	98515286	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:98515286G>T	ENST00000359863.4	+	20	2815	c.2606G>T	c.(2605-2607)cGc>cTc	p.R869L	TRRAP_ENST00000446306.3_Missense_Mutation_p.R868L|TRRAP_ENST00000355540.3_Missense_Mutation_p.R869L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	869					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.R869L(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAGCCGGTGCGCGCAGAGCTC	0.572000													12	33					5.50884e-06	6.75894e-06	0.001368	1	0
PROSER1	80209	broad.mit.edu	37	13	39587831	39587831	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:39587831C>G	ENST00000352251.3	-	11	2391	c.1558G>C	c.(1558-1560)Gcc>Ccc	p.A520P	PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.A498P	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	520	Ser-rich.							p.A520P(1)									GCTGATGGGGCATAGCACTTG	0.552000													24	44					0	0	0.002780	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671721	125671721	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:125671721C>A	ENST00000431078.1	+	24	4141	c.3777C>A	c.(3775-3777)acC>acA	p.T1259T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1259					cell adhesion|signal transduction	integral to membrane	receptor binding	p.T1259T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCATCATGACCCGGTTCCTCT	0.448000													17	160					6.94344e-10	9.83485e-10	0.006122	1	0
ZNF585B	92285	broad.mit.edu	37	19	37680982	37680982	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:37680982T>A	ENST00000532828.2	-	3	394	c.143A>T	c.(142-144)cAg>cTg	p.Q48L	ZNF585B_ENST00000527838.1_Missense_Mutation_p.Q48L|CTC-454I21.3_ENST00000585860.2_Missense_Mutation_p.Q48L|ZNF585B_ENST00000586320.1_Missense_Mutation_p.Q33L|ZNF585B_ENST00000531805.1_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.Q48L(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGGTTTCTCTGAGAAAGGTC	0.522000													31	91					0	0	0.008361	0	0
STC1	6781	broad.mit.edu	37	8	23708865	23708865	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:23708865C>G	ENST00000290271.2	-	3	724	c.441G>C	c.(439-441)gaG>gaC	p.E147D	STC1_ENST00000524323.1_Missense_Mutation_p.E78D	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	147					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.E147D(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GCTGGACGACCTCAGTGATGG	0.542000													21	83					0	0	0.003330	0	0
IL6R	3570	broad.mit.edu	37	1	154401785	154401785	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:154401785G>T	ENST00000368485.3	+	2	636	c.199G>T	c.(199-201)Gca>Tca	p.A67S	IL6R_ENST00000344086.4_Missense_Mutation_p.A67S	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	67	Ig-like C2-type.				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	p.A67S(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAAGCCGGCTGCAGGCTCCCA	0.637000													13	56					9.05144e-12	1.34656e-11	0.001855	1	0
GBP1P1	400759	broad.mit.edu	37	1	89889968	89889968	+	RNA	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:89889968G>T	ENST00000513638.1	+	0	709					NR_003133.2																						ACAGGGTCCAGTTGCTGGAAG	0.453000													103	356					2.58158e-40	4.87707e-40	0.003610	1	0
ZNF559	84527	broad.mit.edu	37	19	9452555	9452555	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:9452555G>T	ENST00000393883.2	+	6	1076	c.428G>T	c.(427-429)gGa>gTa	p.G143V	ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000603380.1_Missense_Mutation_p.G143V|ZNF559_ENST00000585352.1_3'UTR|ZNF559_ENST00000538743.1_Missense_Mutation_p.G63V|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000592504.1_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.G207V	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G143V(1)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ACTGATATCGGAGAGGAACTT	0.363000													35	50					1.61788e-16	2.61641e-16	0.012213	1	0
FBN1	2200	broad.mit.edu	37	15	48766841	48766841	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:48766841T>A	ENST00000316623.5	-	33	4426	c.3971A>T	c.(3970-3972)aAt>aTt	p.N1324I		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1324	EGF-like 22; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.N1324I(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTCACATTCATTGATGTCTGG	0.383000													12	52					0	0	0.010729	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302151	128302151	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:128302151G>T	ENST00000262462.4	+	1	1331	c.321G>T	c.(319-321)acG>acT	p.T107T	SLC27A6_ENST00000506176.1_Silent_p.T107T|SLC27A6_ENST00000395266.1_Silent_p.T107T			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	107					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.T107T(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGGGGGACACGGTGGCTCTGC	0.542000													13	19					2.27111e-07	2.94351e-07	0.001368	1	0
CHRNB4	1143	broad.mit.edu	37	15	78917515	78917515	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:78917515T>A	ENST00000261751.3	-	6	1568	c.1457A>T	c.(1456-1458)cAt>cTt	p.H486L	CHRNB4_ENST00000412074.2_Missense_Mutation_p.M160L	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	486					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.H486L(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						AGAAGCTGCATGGGTCTGGAA	0.632000													37	55					0	0	0.004289	0	0
CHRM2	1129	broad.mit.edu	37	7	136700794	136700794	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:136700794G>T	ENST00000445907.2	+	3	1710	c.1182G>T	c.(1180-1182)ttG>ttT	p.L394F	CHRM2_ENST00000397608.3_Missense_Mutation_p.L394F|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.L394F|CHRM2_ENST00000453373.1_Missense_Mutation_p.L394F|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.L394F|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.L394F	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	394					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.L394F(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CTATTCTGTTGGCTTTCATCA	0.478000													36	117					5.8336e-16	9.3299e-16	0.003271	1	0
ZNF79	7633	broad.mit.edu	37	9	130197409	130197409	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:130197409A>C	ENST00000342483.5	+	3	552	c.146A>C	c.(145-147)cAg>cCg	p.Q49P	ZNF79_ENST00000543471.1_Missense_Mutation_p.Q25P	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q49P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GCTTTTGCACAGGAAAGGTGG	0.507000													29	131					0	0	0.008361	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20173624	20173624	+	Silent	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:20173624A>T	ENST00000379565.3	-	22	2322	c.2115T>A	c.(2113-2115)gcT>gcA	p.A705A	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000544447.1_Silent_p.A677A|RPS6KA3_ENST00000540702.1_Silent_p.A676A|RPS6KA3_ENST00000379548.4_Silent_p.A675A	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	705					axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	p.A705A(1)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						CAGAATATGTAGCTGCCATGG	0.403000													17	65					0	0	0.004007	0	0
WRN	7486	broad.mit.edu	37	8	30954341	30954341	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:30954341G>T	ENST00000298139.5	+	17	2205	c.1956G>T	c.(1954-1956)ctG>ctT	p.L652L		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	652	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	p.L652L(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACATGGGCCTGCTCCAGCAAC	0.343000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				9	22					0.000673444	0.000759985	0.008291	1	0
PDE9A	5152	broad.mit.edu	37	21	44108030	44108030	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr21:44108030C>T	ENST00000335440.6	+	2	109	c.73C>T	c.(73-75)Cac>Tac	p.H25Y	PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398234.3_Silent_p.N7N|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000335512.4_Silent_p.N48N|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000398225.3_Silent_p.N7N|PDE9A_ENST00000380328.2_Silent_p.N48N|PDE9A_ENST00000539837.1_Silent_p.N13N|PDE9A_ENST00000398229.3_Silent_p.N7N|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000291539.6_Silent_p.N48N|PDE9A_ENST00000398232.3_Intron|PDE9A_ENST00000328862.6_Intron	NM_001001578.1	NP_001001578.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	0					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	p.N48N(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TTTCCAGGAACACGACCATCT	0.592000													5	35					0	0	0.001168	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475328	50475328	+	RNA	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:50475328C>T	ENST00000602139.1	+	0	1274									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.Q417*(1)|p.Q379*(1)		endometrium(2)|kidney(2)|lung(6)	10						GCTGGGCTCCCAGCGCGTCTC	0.667000													14	36					0	0	0.003163	0	0
ITGAX	3687	broad.mit.edu	37	16	31371152	31371152	+	Splice_Site	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:31371152G>T	ENST00000268296.4	+	6	682		c.e6+1		ITGAX_ENST00000562522.1_Splice_Site	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)						blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CAGCACCCAGGTGTGCCTTTG	0.592000													14	61					2.62699e-14	4.13301e-14	0.003163	1	0
ERBB4	2066	broad.mit.edu	37	2	212589838	212589838	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:212589838G>A	ENST00000342788.4	-	6	1014	c.704C>T	c.(703-705)gCt>gTt	p.A235V	ERBB4_ENST00000402597.1_Missense_Mutation_p.A235V|ERBB4_ENST00000436443.1_Missense_Mutation_p.A235V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	235	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.A235V(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCAGCCTCCAGCACATTCTCG	0.488000										TSP Lung(8;0.080)			31	64					0	0	0.010818	0	0
TENM3	55714	broad.mit.edu	37	4	183652154	183652154	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:183652154C>A	ENST00000511685.1	+	16	2952	c.2829C>A	c.(2827-2829)gtC>gtA	p.V943V	TENM3_ENST00000406950.2_Silent_p.V943V|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3									p.V943V(1)									ATACCCTAGTCATGAAGAAAG	0.423000													8	57					5.18039e-06	6.40477e-06	0.003080	1	0
STK10	6793	broad.mit.edu	37	5	171544485	171544485	+	Splice_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:171544485C>A	ENST00000176763.5	-	4	863	c.520_splice	c.e4+1	p.A174_splice		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	174	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.A174S(1)		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)			AGCCCCTTACCCAGCCTGATG	0.607000													23	5					1.36565e-18	2.28501e-18	0.002780	1	0
TMEM120B	144404	broad.mit.edu	37	12	122199641	122199641	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:122199641C>G	ENST00000449592.2	+	6	649	c.548C>G	c.(547-549)tCa>tGa	p.S183*	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	183						integral to membrane		p.S183*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		AGCAACGGCTCAAGGTACCTG	0.557000													3	45					0	0	0.009096	0	0
GLI2	2736	broad.mit.edu	37	2	121708923	121708923	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:121708923C>A	ENST00000452319.1	+	4	419	c.359C>A	c.(358-360)cCg>cAg	p.P120Q	GLI2_ENST00000361492.4_Missense_Mutation_p.P120Q|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	120					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P120Q(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCCCCCCACCCGTACGTGAAC	0.662000													15	80					1.49906e-05	1.8071e-05	0.002450	1	0
EFCAB1	79645	broad.mit.edu	37	8	49642328	49642328	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:49642328T>G	ENST00000433756.1	-	3	425	c.266A>C	c.(265-267)gAc>gCc	p.D89A	EFCAB1_ENST00000262103.3_Missense_Mutation_p.D141A|EFCAB1_ENST00000523092.1_Missense_Mutation_p.D89A|EFCAB1_ENST00000521002.1_Intron	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	141	EF-hand 1.						calcium ion binding	p.D141A(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TTCATCAGGGTCTTCCTCAGA	0.353000													3	51					0	0	0.009096	0	0
XKR3	150165	broad.mit.edu	37	22	17264941	17264941	+	Silent	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr22:17264941G>C	ENST00000331428.5	-	4	1050	c.948C>G	c.(946-948)gcC>gcG	p.A316A		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	316						integral to membrane|plasma membrane		p.A316A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	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)				AGAAGTTGATGGCAGCATATA	0.438000													33	21					0	0	0.005524	0	0
MLIP	90523	broad.mit.edu	37	6	54122140	54122140	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:54122140A>T	ENST00000502396.1	+	13	2989	c.2957A>T	c.(2956-2958)gAa>gTa	p.E986V	MLIP_ENST00000370876.2_Missense_Mutation_p.E227V|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Missense_Mutation_p.E283V|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000274897.5_Missense_Mutation_p.E451V			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	451						nuclear envelope|PML body	protein binding	p.E451V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CCTGAACATGAAGCTCTTGAT	0.323000													14	63					0	0	0.002450	0	0
RYR1	6261	broad.mit.edu	37	19	38934437	38934437	+	Splice_Site	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:38934437G>C	ENST00000355481.4	+	5	555		c.e5+1		RYR1_ENST00000360985.3_Splice_Site|RYR1_ENST00000359596.3_Splice_Site	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)						muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.?(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GACGCAACAGGTGCAGCAGCT	0.612000													9	59					0	0	0.006214	0	0
EPHA3	2042	broad.mit.edu	37	3	89390098	89390098	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:89390098G>A	ENST00000336596.2	+	4	1072	c.847G>A	c.(847-849)Ggt>Agt	p.G283S	EPHA3_ENST00000452448.2_Missense_Mutation_p.G283S|EPHA3_ENST00000494014.1_Missense_Mutation_p.G283S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	283	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding	p.G283S(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GGCATTGGATGGTAATATGAA	0.378000										TSP Lung(6;0.00050)			53	142					0	0	0.003610	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767546	31767546	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:31767546G>A	ENST00000240587.4	-	2	3480	c.3153C>T	c.(3151-3153)gcC>gcT	p.A1051A		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1051					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	p.A868A(1)|p.A1051A(1)		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)					CGTGCTTGCTGGCAAAGGTCC	0.488000													49	40					0	0	0.003610	0	0
NOA1	84273	broad.mit.edu	37	4	57839404	57839404	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:57839404G>C	ENST00000264230.4	-	3	2662	c.1425C>G	c.(1423-1425)caC>caG	p.H475Q		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	475							GTP binding	p.H475Q(1)									TGGTGGATTTGTGTGTACCCA	0.378000													123	98					0	0	0.003610	0	0
PSG11	5680	broad.mit.edu	37	19	43528992	43528992	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:43528992G>C	ENST00000401740.1	-	2	384	c.281C>G	c.(280-282)gCa>gGa	p.A94G	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94G|PSG11_ENST00000306322.7_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	94	Ig-like V-type.				female pregnancy	extracellular region		p.A94G(1)|p.A94E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TCCACTGTATGCCGGTCCATA	0.438000													142	158					0	0	0.003610	0	0
OR8D4	338662	broad.mit.edu	37	11	123777895	123777895	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:123777895G>T	ENST00000321355.2	+	1	787	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253W(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TATGTTTTATGGGTCTCTGAT	0.448000													12	78					0.00010058	0.000117155	0.001368	1	0
IL1RL1	9173	broad.mit.edu	37	2	102968097	102968097	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:102968097G>T	ENST00000233954.1	+	11	1658	c.1387G>T	c.(1387-1389)Gag>Tag	p.E463*		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	463	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.E463*(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTACGAGCAGGAGGTTGCCCT	0.537000													12	38					0.00136819	0.00152854	0.001368	1	0
ADAM33	80332	broad.mit.edu	37	20	3651959	3651959	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:3651959G>C	ENST00000356518.2	-	18	2258	c.2017C>G	c.(2017-2019)Cca>Gca	p.P673A	ADAM33_ENST00000350009.2_Missense_Mutation_p.P647A|ADAM33_ENST00000379861.4_Missense_Mutation_p.P673A|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	673	EGF-like.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.P673A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GCCCAGCCTGGAGCACAGTGG	0.592000													20	41					0	0	0.002780	0	0
FOXP2	93986	broad.mit.edu	37	7	114302190	114302190	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:114302190G>A	ENST00000408937.3	+	15	2167	c.1793G>A	c.(1792-1794)tGg>tAg	p.W598*	FOXP2_ENST00000393494.2_Nonsense_Mutation_p.W573*|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Nonsense_Mutation_p.W573*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.W552*|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.W590*|FOXP2_ENST00000393491.3_Nonsense_Mutation_p.W388*|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.W481*	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	573					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.W598*(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GGAGCAGTATGGACTGTGGAT	0.393000													9	62					0	0	0.004482	0	0
KIAA1755	85449	broad.mit.edu	37	20	36854101	36854101	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:36854101G>T	ENST00000279024.4	-	8	2406	c.2135C>A	c.(2134-2136)cCc>cAc	p.P712H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	712								p.P712H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GTGGCAGTAGGGGAAGGGGCC	0.572000													23	33					1.55795e-14	2.45376e-14	0.012319	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651759	84651759	+	Nonsense_Mutation	SNP	G	G	T	rs147808860		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:84651759G>T	ENST00000286744.5	+	21	3603	c.3379G>T	c.(3379-3381)Gaa>Taa	p.E1127*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.E1127*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1127						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.E1127*(1)|p.E1127K(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTGGTGGCCGAATTAGCCAA	0.547000													12	40					4.93089e-13	7.53677e-13	0.002450	1	0
KIAA2022	340533	broad.mit.edu	37	X	73961080	73961080	+	Silent	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:73961080T>A	ENST00000373468.1	-	3	3963	c.3312A>T	c.(3310-3312)ggA>ggT	p.G1104G	KIAA2022_ENST00000055682.5_Silent_p.G1104G			Q5QGS0	K2022_HUMAN	KIAA2022	1104					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	p.G1104G(1)		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						TGTCCAATGGTCCTGGGACAC	0.473000													47	42					0	0	0.010771	0	0
ABCB1	5243	broad.mit.edu	37	7	87190635	87190635	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:87190635G>T	ENST00000265724.3	-	9	1188	c.771C>A	c.(769-771)gtC>gtA	p.V257V	ABCB1_ENST00000543898.1_Silent_p.V193V	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	257	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.V257V(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTGCTGCCAAGACCTCTTCAG	0.328000													16	37					4.14922e-12	6.21739e-12	0.004007	1	0
SENP6	26054	broad.mit.edu	37	6	76385184	76385184	+	Splice_Site	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:76385184G>T	ENST00000370014.3	+	12	2045	c.1426_splice	c.e12+1	p.E476_splice	SENP6_ENST00000541192.1_Splice_Site_p.E72_splice|SENP6_ENST00000370010.2_Splice_Site_p.E469_splice|SENP6_ENST00000327284.8_Splice_Site_p.E469_splice|SENP6_ENST00000447266.2_Splice_Site_p.E476_splice	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	476					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	p.E476*(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ACAGCTAGACGGTAAGCTATT	0.269000													5	54					5.9392e-07	7.61584e-07	0.001168	1	0
FBP2	8789	broad.mit.edu	37	9	97355924	97355924	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:97355924C>A	ENST00000375337.3	-	1	151	c.85G>T	c.(85-87)Ggg>Tgg	p.G29W		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	29					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	p.G29W(1)		endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GTGAGCTCCCCAGTCCCTTTG	0.597000													14	45					9.31168e-06	1.13479e-05	0.001855	1	0
GRM5	2915	broad.mit.edu	37	11	88742218	88742218	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:88742218A>T	ENST00000393294.3	-	3	1079	c.710T>A	c.(709-711)aTg>aAg	p.M237K	GRM5_ENST00000305432.5_Intron|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000418177.2_Intron|GRM5_ENST00000455756.2_Intron|GRM5_ENST00000305447.4_Intron			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	0					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			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)	AAAAGATAACATCAATGTCTG	0.303000													3	6					0	0	0.004672	0	0
PCMT1	5110	broad.mit.edu	37	6	150114744	150114744	+	Silent	SNP	A	A	C	rs142533009		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:150114744A>C	ENST00000464889.1	+	5	815	c.531A>C	c.(529-531)tcA>tcC	p.S177S	PCMT1_ENST00000367378.1_Silent_p.S177S|PCMT1_ENST00000544496.1_Silent_p.S84S|PCMT1_ENST00000367384.2_Silent_p.S177S|PCMT1_ENST00000367380.5_Silent_p.S119S					protein-L-isoaspartate (D-aspartate) O-methyltransferase									p.S119S(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		TAGATGACTCAGTAAATAATG	0.368000													5	43					0	0	0.000602	0	0
TACC2	10579	broad.mit.edu	37	10	123846949	123846949	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:123846949A>T	ENST00000369005.1	+	4	5274	c.4934A>T	c.(4933-4935)gAg>gTg	p.E1645V	TACC2_ENST00000453444.2_Missense_Mutation_p.E1645V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.E1645V|TACC2_ENST00000515603.1_Missense_Mutation_p.E1645V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.E1645V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1645						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.E1645V(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACTGTGCCTGAGGCCAACAGT	0.592000													22	22					0	0	0.010504	0	0
SYT16	83851	broad.mit.edu	37	14	62547824	62547824	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:62547824G>T	ENST00000430451.2	+	4	1463	c.1266G>T	c.(1264-1266)aaG>aaT	p.K422N	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	422	C2 1.							p.K422N(1)|p.K402N(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CCTTTGCCAAGCTGGAGCCCA	0.557000													14	19					6.31663e-08	8.35109e-08	0.003163	1	0
CR1	1378	broad.mit.edu	37	1	207758216	207758216	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:207758216G>A	ENST00000367049.4	+	33	5525	c.5525G>A	c.(5524-5526)cGt>cAt	p.R1842H	CR1_ENST00000367052.1_Missense_Mutation_p.R1392H|RP11-78B10.2_ENST00000596003.1_RNA|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.R1392H|CR1_ENST00000367053.1_Missense_Mutation_p.R1392H|CR1_ENST00000367051.1_Missense_Mutation_p.R1392H	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1392	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1397H(3)|p.R1842H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTCTGTTCGTGCTGGTCAG	0.488000													15	76					0	0	0.002450	0	0
TMEM185A	84548	broad.mit.edu	37	X	148690313	148690313	+	Splice_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:148690313C>A	ENST00000316916.8	-	3	728		c.e3+1		TMEM185A_ENST00000507237.1_Splice_Site|TMEM185A_ENST00000536359.1_Splice_Site	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A							integral to membrane		p.?(1)		kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGAAATCTCACCTCTAGTGAC	0.493000													30	52					9.39395e-14	1.45893e-13	0.006320	1	0
TNNI3K	51086	broad.mit.edu	37	1	74957781	74957781	+	Splice_Site	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:74957781C>G	ENST00000370891.2	+	25	2501	c.2484_splice	c.e25-1	p.L829_splice	FPGT-TNNI3K_ENST00000557284.1_Splice_Site_p.L829_splice|TNNI3K_ENST00000326637.3_Splice_Site_p.L728_splice|LRRC53_ENST00000294635.4_Intron	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase									p.L728V(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						CTCCACTCAGCTGATGTCTCC	0.458000													58	251					0	0	0.003610	0	0
FAM131A	131408	broad.mit.edu	37	3	184059582	184059582	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:184059582C>T	ENST00000340957.5	+	3	319	c.47C>T	c.(46-48)gCg>gTg	p.A16V	FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000450976.1_Missense_Mutation_p.A16V|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000383847.2_Missense_Mutation_p.A101V|FAM131A_ENST00000453072.1_Missense_Mutation_p.A16V|FAM131A_ENST00000310585.4_5'UTR	NM_001171093.1	NP_001164564.1	Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	0						extracellular region		p.A101V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGATCGCTGCGCTGGCCAGG	0.557000													15	152					0	0	0.002450	0	0
SALL2	6297	broad.mit.edu	37	14	21992359	21992359	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:21992359C>T	ENST00000327430.3	-	2	1797	c.1503G>A	c.(1501-1503)acG>acA	p.T501T	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Silent_p.T364T|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	501							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T501T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GTCCTGGAGCCGTGGCTGTGC	0.572000													5	33					0	0	0.000602	0	0
SMCP	4184	broad.mit.edu	37	1	152857053	152857053	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:152857053C>A	ENST00000368765.3	+	2	305	c.155C>A	c.(154-156)cCa>cAa	p.P52Q		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	52	7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida|sperm motility	mitochondrial membrane		p.P52Q(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAATGCTGCCCACCAAAACAC	0.542000													12	199					3.07112e-06	3.83294e-06	0.010729	1	0
MYH7	4625	broad.mit.edu	37	14	23886822	23886822	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:23886822C>G	ENST00000355349.3	-	31	4405	c.4243G>C	c.(4243-4245)Gag>Cag	p.E1415Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1415					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1415*(2)|p.E1415Q(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTGGTCTTCTCCAGCGAGGAG	0.607000													15	101					0	0	0.003163	0	0
TBCCD1	55171	broad.mit.edu	37	3	186282067	186282067	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:186282067C>T	ENST00000424280.1	-	2	531	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	TBCCD1_ENST00000338733.5_Missense_Mutation_p.G18S|TBCCD1_ENST00000446782.1_Intron	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	18					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	p.G18S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TGCAAGGCACCCACTATAAAG	0.493000													23	98					0	0	0.004656	0	0
GDA	9615	broad.mit.edu	37	9	74810461	74810461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:74810461G>T	ENST00000358399.3	+	2	262	c.169G>T	c.(169-171)Gaa>Taa	p.E57*	GDA_ENST00000238018.4_Nonsense_Mutation_p.E57*|GDA_ENST00000376989.3_Nonsense_Mutation_p.E32*|GDA_ENST00000376986.1_Nonsense_Mutation_p.E15*|GDA_ENST00000545168.1_5'UTR|GDA_ENST00000477618.1_3'UTR	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	57					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.E57*(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ACTGGCCAAAGAATGGTGCTT	0.353000													4	37					0.000602214	0.000681726	0.000602	1	0
CCDC27	148870	broad.mit.edu	37	1	3679923	3679923	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:3679923C>A	ENST00000294600.2	+	7	1290	c.1206C>A	c.(1204-1206)tcC>tcA	p.S402S		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	402	Glu-rich.							p.S402S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGGCCTCCTCCCTGGCCGAGT	0.617000													20	14					7.45023e-12	1.11407e-11	0.010504	1	0
CASP2	835	broad.mit.edu	37	7	142989412	142989412	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:142989412G>T	ENST00000310447.5	+	3	486	c.245G>T	c.(244-246)aGc>aTc	p.S82I	CASP2_ENST00000493642.1_3'UTR|CASP2_ENST00000392925.2_Missense_Mutation_p.S82I	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	82	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	p.S82I(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					GGCAGTTTCAGCCAGAATGTG	0.453000													23	77					2.70639e-06	3.38942e-06	0.002299	1	0
TRAV24	28659	broad.mit.edu	37	14	22574056	22574056	+	RNA	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:22574056G>T	ENST00000390453.1	+	0	276																											ATACCAAGGAGGGTTACAGCT	0.468000													19	16					4.96729e-08	6.60937e-08	0.008871	1	0
SRGAP3	9901	broad.mit.edu	37	3	9166584	9166584	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:9166584C>A	ENST00000383836.3	-	2	512	c.85G>T	c.(85-87)Gtg>Ttg	p.V29L	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.V29L	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	29	FCH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.V29L(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AACTGCTCCACCAGCTGCGTG	0.617000			T	RAF1	pilocytic astrocytoma								21	34					2.89027e-11	4.23886e-11	0.002299	1	0
DMD	1756	broad.mit.edu	37	X	32235069	32235069	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:32235069C>A	ENST00000357033.4	-	44	6608	c.6402G>T	c.(6400-6402)gaG>gaT	p.E2134D	DMD_ENST00000378677.2_Missense_Mutation_p.E2130D	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2134					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E793D(1)|p.E2130D(1)|p.E2129D(1)|p.E2134D(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTCCCAATTCTCAGGAATTT	0.333000													15	26					1.49906e-05	1.8071e-05	0.002450	1	0
JPH4	84502	broad.mit.edu	37	14	24040527	24040527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:24040527C>T	ENST00000397118.3	-	6	2315	c.1413G>A	c.(1411-1413)tgG>tgA	p.W471*	JPH4_ENST00000356300.4_Nonsense_Mutation_p.W471*|JPH4_ENST00000544177.1_Nonsense_Mutation_p.W136*	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	471					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		p.W471*(1)		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)		CAGGGGGTCGCCAGGGTTGGC	0.687000													38	40					0	0	0.004289	0	0
SSX7	280658	broad.mit.edu	37	X	52681930	52681930	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:52681930C>T	ENST00000298181.5	-	3	332	c.174G>A	c.(172-174)atG>atA	p.M58I		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	58	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.M58I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					CTAGTTTAGTCATGGCCTCAT	0.408000													13	60					0	0	0.001368	0	0
TENM1	10178	broad.mit.edu	37	X	123514787	123514787	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:123514787C>T	ENST00000422452.2	-	32	7861	c.7798G>A	c.(7798-7800)Ggg>Agg	p.G2600R	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.G2593R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.G2595R(1)									ATCCGCCTCCCCCCAGTGTTA	0.502000													18	92					0	0	0.004990	0	0
MAN1A2	10905	broad.mit.edu	37	1	117948254	117948254	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:117948254C>T	ENST00000356554.3	+	3	1377	c.642C>T	c.(640-642)tcC>tcT	p.S214S	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	214					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.S214S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AAGGACACTCCCCTAACATAT	0.323000													35	142					0	0	0.012213	0	0
C21orf128	150147	broad.mit.edu	37	21	43523974	43523974	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr21:43523974C>A	ENST00000329015.2	-	2	410	c.259G>T	c.(259-261)Gcc>Tcc	p.A87S	UMODL1_ENST00000400424.1_Intron|UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000408910.2_Intron|UMODL1_ENST00000408989.2_Intron					chromosome 21 open reading frame 128									p.A87S(2)|p.?(2)		lung(4)	4						CTCTTCTTGGCTAGGTCGAGA	0.542000													11	91					1.58986e-06	2.00323e-06	0.008291	1	0
GGT7	2686	broad.mit.edu	37	20	33440304	33440304	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:33440304C>A	ENST00000336431.5	-	11	1401	c.1357G>T	c.(1357-1359)Gac>Tac	p.D453Y		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	453					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.D453Y(1)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCCTGGGAGTCATTGATATGG	0.577000													41	42					2.35958e-20	4.05099e-20	0.009718	1	0
BOD1L1	259282	broad.mit.edu	37	4	13606445	13606445	+	Silent	SNP	C	C	T	rs146630428	byFrequency	TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:13606445C>T	ENST00000040738.5	-	10	2214	c.2079G>A	c.(2077-2079)caG>caA	p.Q693Q		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	693	Lys-rich.						DNA binding	p.Q693Q(1)									GTGTGCTTTTCTGTTTCTGGG	0.418000													61	448					0	0	0.003610	0	0
NRXN3	9369	broad.mit.edu	37	14	79434533	79434533	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:79434533G>T	ENST00000554719.1	+	11	2358	c.1867G>T	c.(1867-1869)Ggt>Tgt	p.G623C	NRXN3_ENST00000335750.5_Missense_Mutation_p.G623C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	227					angiogenesis|cell adhesion	integral to membrane		p.G623C(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTATATGGCTGGTCTGGCCCA	0.473000													5	47					0.000157383	0.000182147	0.003080	1	0
ZNF692	55657	broad.mit.edu	37	1	249152402	249152402	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:249152402T>C	ENST00000451251.1	-	2	467	c.122A>G	c.(121-123)gAg>gGg	p.E41G	ZNF692_ENST00000366469.5_Missense_Mutation_p.E36G|ZNF692_ENST00000391820.3_Missense_Mutation_p.E36G|ZNF692_ENST00000427146.1_Missense_Mutation_p.E36G|ZNF692_ENST00000306601.4_Missense_Mutation_p.E36G|ZNF692_ENST00000366471.3_Missense_Mutation_p.E36G	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E36G(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCACCACTGCTCCATGTGGCC	0.711000													7	12					0	0	0.001984	0	0
SSPO	23145	broad.mit.edu	37	7	149490435	149490435	+	RNA	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:149490435G>T	ENST00000378016.2	+	0	5911							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGAGCATCAGGGCCAGGTCCA	0.652000													5	27					0.000602214	0.000681726	0.000602	1	0
ENTPD4	9583	broad.mit.edu	37	8	23297285	23297285	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:23297285A>C	ENST00000358689.4	-	9	1261	c.1026T>G	c.(1024-1026)ttT>ttG	p.F342L	ENTPD4_ENST00000417069.2_Missense_Mutation_p.F334L|ENTPD4_ENST00000356206.6_Missense_Mutation_p.F334L	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	342					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	p.F342L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TGGTGTTGGCAAATATTCTGT	0.448000													3	56					0	0	0.004672	0	0
DDX60L	91351	broad.mit.edu	37	4	169337907	169337907	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:169337907C>T	ENST00000511577.1	-	20	2899	c.2652G>A	c.(2650-2652)gaG>gaA	p.E884E	DDX60L_ENST00000505890.1_Silent_p.E884E|DDX60L_ENST00000260184.7_Silent_p.E884E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	884	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding	p.E884E(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CAAGGAGGAGCTCCCAAAATT	0.348000													14	68					0	0	0.003163	0	0
FGFR2	2263	broad.mit.edu	37	10	123246893	123246893	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:123246893T>C	ENST00000358487.5	-	15	2304	c.2032A>G	c.(2032-2034)Aga>Gga	p.R678G	FGFR2_ENST00000457416.2_Missense_Mutation_p.R679G|FGFR2_ENST00000357555.5_Missense_Mutation_p.R589G|FGFR2_ENST00000369059.1_Missense_Mutation_p.R564G|FGFR2_ENST00000478859.1_Missense_Mutation_p.R450G|FGFR2_ENST00000360144.3_Missense_Mutation_p.R590G|FGFR2_ENST00000356226.4_Missense_Mutation_p.R561G|FGFR2_ENST00000351936.6_Missense_Mutation_p.R676G|FGFR2_ENST00000369060.4_Missense_Mutation_p.R562G|FGFR2_ENST00000346997.2_Missense_Mutation_p.R676G|FGFR2_ENST00000369061.4_Missense_Mutation_p.R566G|FGFR2_ENST00000369056.1_Missense_Mutation_p.R679G	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	678	Protein kinase.		R -> G (in CS).		angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.R679G(1)|p.R676G(1)|p.R589G(1)|p.R678G(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GTGTATACTCTATCAAACAGG	0.398000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				28	24					0	0	0.007291	0	0
LINC00202-2	731789	broad.mit.edu	37	10	26939550	26939550	+	RNA	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:26939550T>A	ENST00000544033.1	+	0	5483					NR_026794.1																						TCAGTGCTGTTCTCGAAGAGG	0.532000													9	93					0	0	0.004482	0	0
SYTL4	94121	broad.mit.edu	37	X	99944921	99944921	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:99944921C>A	ENST00000372981.1	-	9	1030	c.844G>T	c.(844-846)Gat>Tat	p.D282Y	SYTL4_ENST00000263033.5_Missense_Mutation_p.D282Y|SYTL4_ENST00000372989.1_Missense_Mutation_p.D282Y|SYTL4_ENST00000276141.6_Missense_Mutation_p.D282Y|SYTL4_ENST00000455616.1_Missense_Mutation_p.D282Y|SYTL4_ENST00000454200.2_Missense_Mutation_p.D283Y			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	282					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	p.D282Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTACCACATCTTCTGGGCGA	0.448000													12	47					1.61879e-10	2.33164e-10	0.001368	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072830	17072830	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr22:17072830C>A	ENST00000359963.3	-	1	870	c.611G>T	c.(610-612)gGg>gTg	p.G204V		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	204					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.G204V(1)		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)				CGCGCACACCCCAACACGCTC	0.612000													11	44					0.000673444	0.000759985	0.008291	1	0
ASB9	140462	broad.mit.edu	37	X	15276996	15276996	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:15276996T>A	ENST00000546332.1	-	3	649	c.166A>T	c.(166-168)Atc>Ttc	p.I56F	ASB9_ENST00000380485.3_Missense_Mutation_p.I56F|ASB9_ENST00000380483.3_Missense_Mutation_p.I56F|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380488.4_Missense_Mutation_p.I56F	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	56					intracellular signal transduction			p.I56F(2)		breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					ACCTGGCTGATGAGGTTCCTC	0.373000													43	59					0	0	0.008740	0	0
R3HDML	140902	broad.mit.edu	37	20	42969841	42969841	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:42969841G>T	ENST00000217043.2	+	2	439	c.267G>T	c.(265-267)tgG>tgT	p.W89C		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	89						extracellular region	peptidase inhibitor activity	p.W89C(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CCCAGGTCTGGGACAAGCGGC	0.577000													17	35					1.5739e-10	2.2783e-10	0.004007	1	0
CYHR1	50626	broad.mit.edu	37	8	145689627	145689627	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:145689627C>A	ENST00000403000.2	-	2	1049	c.462G>T	c.(460-462)cgG>cgT	p.R154R	CYHR1_ENST00000306145.5_Silent_p.R154R|CYHR1_ENST00000424149.2_Silent_p.R154R|CYHR1_ENST00000438911.2_Intron|CTD-2517M22.16_ENST00000525461.1_RNA	NM_032687.3	NP_116076.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	0						perinuclear region of cytoplasm	zinc ion binding	p.R154R(1)		haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCTCCTCCAGCCGGCTCAGGA	0.632000											OREG0019056	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	66					1.3612e-06	1.72411e-06	0.003163	1	0
TBX15	6913	broad.mit.edu	37	1	119441696	119441696	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:119441696G>T	ENST00000369429.3	-	7	988	c.979C>A	c.(979-981)Cgc>Agc	p.R327S	TBX15_ENST00000207157.3_Missense_Mutation_p.R221S			Q96SF7	TBX15_HUMAN	T-box 15	327						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R221S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GTGAGTGTGCGCACAGGAGGT	0.488000													10	53					1.58986e-06	2.00323e-06	0.008291	1	0
BCLAF1	9774	broad.mit.edu	37	6	136600943	136600943	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:136600943G>T	ENST00000531224.1	-	3	314	c.62C>A	c.(61-63)tCt>tAt	p.S21Y	BCLAF1_ENST00000392348.2_Missense_Mutation_p.S21Y|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S21Y|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S21Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S21Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S21Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	21					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.S21Y(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTTGATCGAGAACTAGACTG	0.323000													14	45					1.5842e-08	2.14533e-08	0.001855	1	0
FANCI	55215	broad.mit.edu	37	15	89807159	89807159	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:89807159G>T	ENST00000310775.7	+	8	657	c.571G>T	c.(571-573)Gtg>Ttg	p.V191L	FANCI_ENST00000567996.1_Missense_Mutation_p.V191L|FANCI_ENST00000451393.2_Missense_Mutation_p.V12L|FANCI_ENST00000300027.8_Missense_Mutation_p.V191L	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	191					cell cycle|DNA repair	nucleoplasm	protein binding	p.V191L(2)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TGCAGAAGAGGTGGAATTTGT	0.423000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				33	43					8.88839e-20	1.51878e-19	0.010818	1	0
SERPINA5	5104	broad.mit.edu	37	14	95058421	95058421	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:95058421G>C	ENST00000329597.7	+	6	1276	c.1066G>C	c.(1066-1068)Gac>Cac	p.D356H	SERPINA5_ENST00000554276.1_Missense_Mutation_p.D356H|SERPINA3_ENST00000553947.1_5'UTR|SERPINA5_ENST00000553780.1_Missense_Mutation_p.D356H|SERPINA5_ENST00000554866.1_Missense_Mutation_p.D356H	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	356					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.D356H(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GGTGGAGGTGGACGAGTCGGG	0.572000													8	215					0	0	0.003080	0	0
FAM3C	10447	broad.mit.edu	37	7	121011399	121011399	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:121011399C>G	ENST00000359943.3	-	5	440	c.227G>C	c.(226-228)gGa>gCa	p.G76A		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	76					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity	p.G76E(1)|p.G76A(1)		kidney(1)|lung(8)	9	all_neural(327;0.117)					GTTGGCTGCTCCACTTGCCAT	0.438000													25	109					0	0	0.002780	0	0
KIF21A	55605	broad.mit.edu	37	12	39726905	39726905	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:39726905G>C	ENST00000395670.3	-	19	2911	c.2492C>G	c.(2491-2493)aCg>aGg	p.T831R	KIF21A_ENST00000541463.2_Missense_Mutation_p.T795R|KIF21A_ENST00000361418.5_Missense_Mutation_p.T831R|KIF21A_ENST00000544797.2_Missense_Mutation_p.T818R|KIF21A_ENST00000361961.3_Missense_Mutation_p.T818R			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	831					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.T818R(1)		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)				ACGAAGAGCCGTAACCTGAAA	0.443000													5	138					0	0	0.000602	0	0
GRID2	2895	broad.mit.edu	37	4	94344030	94344030	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:94344030T>A	ENST00000282020.4	+	10	1714	c.1456T>A	c.(1456-1458)Tac>Aac	p.Y486N	GRID2_ENST00000510992.1_Missense_Mutation_p.Y391N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	486					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.Y486N(1)		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)	GGGTTTTAACTACGAAATTTA	0.418000													8	50					0	0	0.003080	0	0
SULF2	55959	broad.mit.edu	37	20	46365538	46365538	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:46365538G>T	ENST00000359930.4	-	3	1175	c.324C>A	c.(322-324)acC>acA	p.T108T	SULF2_ENST00000484875.1_Silent_p.T108T|SULF2_ENST00000361612.4_Silent_p.T108T|SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000467815.1_Silent_p.T108T	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	108					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	p.T108T(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCTCATTGTTGGTGTAGGTGT	0.597000													6	35					0.00116845	0.00131043	0.001168	1	0
TMEM141	85014	broad.mit.edu	37	9	139686191	139686191	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:139686191C>T	ENST00000290079.8	+	2	99	c.83C>T	c.(82-84)tCa>tTa	p.S28L	TMEM141_ENST00000465017.1_3'UTR	NM_032928.3	NP_116317.1	Q96I45	TM141_HUMAN	transmembrane protein 141	28						integral to membrane		p.S28L(1)		large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.67e-06)|Epithelial(140;0.000112)		GCATGCCAGTCACACGCCTTC	0.647000											OREG0019622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	103					0	0	0.006122	0	0
SNHG14	104472715	broad.mit.edu	37	15	25417790	25417790	+	RNA	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:25417790G>C	ENST00000549301.1	+	0	503				SNHG14_ENST00000553149.1_RNA|SNORD115-2_ENST00000362842.1_RNA																							TTGGGTCGATGATGAGAAGCT	0.517000													103	148					0	0	0.003610	0	0
SFXN5	94097	broad.mit.edu	37	2	73249655	73249655	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:73249655C>T	ENST00000272433.2	-	5	457	c.327G>A	c.(325-327)atG>atA	p.M109I	SFXN5_ENST00000410065.1_Missense_Mutation_p.M109I|SFXN5_ENST00000474528.1_5'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	109					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity	p.M109I(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						GCTTACCTGACATTCTAAATG	0.552000													8	19					0	0	0.003080	0	0
HERC2P2	400322	broad.mit.edu	37	15	23300072	23300072	+	RNA	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:23300072C>T	ENST00000560464.1	-	0	4215																											GGCGGATGTGCTGCACGTTGA	0.607000													9	16					0	0	0.004482	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132636	91132636	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:91132636T>A	ENST00000373094.1	+	2	2242	c.1397T>A	c.(1396-1398)tTc>tAc	p.F466Y	PCDH11X_ENST00000373097.1_Missense_Mutation_p.F466Y|PCDH11X_ENST00000361655.2_Missense_Mutation_p.F466Y|PCDH11X_ENST00000298274.8_Missense_Mutation_p.F466Y|PCDH11X_ENST00000361724.1_Missense_Mutation_p.F466Y|PCDH11X_ENST00000504220.1_Missense_Mutation_p.F466Y|PCDH11X_ENST00000395337.2_Missense_Mutation_p.F466Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.F466Y|PCDH11X_ENST00000373088.1_Missense_Mutation_p.F466Y	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	466	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.F466Y(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCTCCAGTTTTCACCCAGTCT	0.433000													11	75					0	0	0.001855	0	0
EPS8L3	79574	broad.mit.edu	37	1	110300460	110300460	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:110300460G>A	ENST00000369805.3	-	10	1090	c.861C>T	c.(859-861)gaC>gaT	p.D287D	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.D286D|EPS8L3_ENST00000361965.4_Silent_p.D286D	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	286						cytoplasm	protein binding	p.D287D(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TCTGGAAGCAGTCAATGTACT	0.582000													11	94					0	0	0.001368	0	0
GPR141	353345	broad.mit.edu	37	7	37780395	37780395	+	Missense_Mutation	SNP	G	G	A	rs146912152	byFrequency	TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:37780395G>A	ENST00000447769.1	+	4	689	c.400G>A	c.(400-402)Gct>Act	p.A134T	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.A134T			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	134						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A134T(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						GCATGCTGTGGCTGCCAGTGC	0.483000													44	113					0	0	0.003610	0	0
LPHN2	23266	broad.mit.edu	37	1	82447620	82447620	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:82447620G>C	ENST00000370728.1	+	21	3875	c.3230G>C	c.(3229-3231)gGa>gCa	p.G1077A	LPHN2_ENST00000335786.5_Missense_Mutation_p.G1077A|LPHN2_ENST00000370715.1_Missense_Mutation_p.G1064A|LPHN2_ENST00000359929.3_Missense_Mutation_p.G1064A|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.G1077A|LPHN2_ENST00000319517.6_Missense_Mutation_p.G1064A|LPHN2_ENST00000271029.4_Missense_Mutation_p.G1092A|LPHN2_ENST00000370721.1_Missense_Mutation_p.G1002A|LPHN2_ENST00000370723.1_Missense_Mutation_p.G1079A|LPHN2_ENST00000370725.1_Missense_Mutation_p.G1092A|LPHN2_ENST00000370713.1_Missense_Mutation_p.G1064A|LPHN2_ENST00000370727.1_Missense_Mutation_p.G1092A|LPHN2_ENST00000394879.1_Missense_Mutation_p.G1079A|LPHN2_ENST00000370717.2_Missense_Mutation_p.G1092A			O95490	LPHN2_HUMAN	latrophilin 2	1077					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.G1092A(1)|p.G1064A(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GCTTTCCAGGGAGTGTTCATT	0.378000													10	125					0	0	0.006214	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814156	106814156	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:106814156C>G	ENST00000407775.2	+	8	2096	c.1846C>G	c.(1846-1848)Cct>Gct	p.P616A	ZFPM2_ENST00000517361.1_Missense_Mutation_p.P484A|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P347A|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P484A|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	616					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.P616A(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTCTGCTGATCCTGAGAATCC	0.453000													10	107					0	0	0.008291	0	0
TSEN2	80746	broad.mit.edu	37	3	12571289	12571289	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:12571289G>A	ENST00000444864.1	+	9	1474	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	TSEN2_ENST00000415684.1_Missense_Mutation_p.D363N|TSEN2_ENST00000284995.6_Missense_Mutation_p.D389N|TSEN2_ENST00000402228.3_Missense_Mutation_p.D389N|TSEN2_ENST00000383797.5_Missense_Mutation_p.D372N|C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000314571.7_Missense_Mutation_p.D363N|TSEN2_ENST00000454502.2_Missense_Mutation_p.D330N	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	389					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	p.D389N(1)		central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GCTAGTTGATGACCATTTTGA	0.388000													6	120					0	0	0.001984	0	0
OPRL1	4987	broad.mit.edu	37	20	62729228	62729228	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:62729228A>T	ENST00000349451.3	+	5	719	c.307A>T	c.(307-309)Acg>Tcg	p.T103S	OPRL1_ENST00000336866.2_Missense_Mutation_p.T103S|OPRL1_ENST00000355631.4_Missense_Mutation_p.T103S	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	103					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	p.T103S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GGTCCTGCTGACGCTGCCCTT	0.537000													24	133					0	0	0.002780	0	0
NDUFA10	4705	broad.mit.edu	37	2	240954195	240954195	+	Silent	SNP	G	G	A	rs148656779		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:240954195G>A	ENST00000252711.2	-	5	730	c.630C>T	c.(628-630)ccC>ccT	p.P210P	NDUFA10_ENST00000404554.1_Silent_p.P210P|NDUFA10_ENST00000307300.4_Silent_p.P250P	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	210					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	p.P210P(1)		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)	CCTCTGGAACGGGCACATCGA	0.483000													13	101					0	0	0.001855	0	0
UHRF2	115426	broad.mit.edu	37	9	6477747	6477747	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:6477747G>A	ENST00000276893.5	+	6	1267	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	367					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	p.V367M(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		TGAATGTAATGTGGCTTATCA	0.413000													45	87					0	0	0.003610	0	0
MEGF10	84466	broad.mit.edu	37	5	126770409	126770409	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:126770409G>C	ENST00000274473.6	+	16	2138	c.1871G>C	c.(1870-1872)tGc>tCc	p.C624S	MEGF10_ENST00000503335.2_Missense_Mutation_p.C624S	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	624	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.C624S(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGGCATCGCTGCAGCCAGACA	0.562000													18	11					0	0	0.008871	0	0
KIAA1432	57589	broad.mit.edu	37	9	5753629	5753629	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:5753629T>G	ENST00000414202.2	+	14	1776	c.1585T>G	c.(1585-1587)Ttt>Gtt	p.F529V	KIAA1432_ENST00000449720.2_Intron|KIAA1432_ENST00000381532.2_Missense_Mutation_p.F450V|KIAA1432_ENST00000418622.3_Missense_Mutation_p.F450V|KIAA1432_ENST00000251879.6_Missense_Mutation_p.F529V	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	529						integral to membrane		p.F450V(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ATGGAAACTTTTTGGAAACAT	0.308000													3	57					0	0	0.004672	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81065336	81065336	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:81065336G>T	ENST00000334512.5	+	21	2973	c.2401G>T	c.(2401-2403)Gga>Tga	p.G801*		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	801					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	p.G801*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GTACATGTGGGGAATCCTGAA	0.602000													56	42					1.48341e-19	2.5258e-19	0.003610	1	0
KIAA1598	57698	broad.mit.edu	37	10	118666150	118666150	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:118666150C>A	ENST00000355371.4	-	15	1965	c.1468G>T	c.(1468-1470)Gca>Tca	p.A490S	KIAA1598_ENST00000392903.2_Missense_Mutation_p.A490S|ENO4_ENST00000369207.2_Intron|KIAA1598_ENST00000260777.10_Intron|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Missense_Mutation_p.A430S	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	490					axon guidance	axon		p.A490S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CTGCTATCTGCTTCTGCTGTC	0.383000													26	20					2.90539e-05	3.47066e-05	0.008361	1	0
ABCD2	225	broad.mit.edu	37	12	39994472	39994472	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:39994472C>T	ENST00000308666.3	-	6	1682	c.1547G>A	c.(1546-1548)gGg>gAg	p.G516E		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	516	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.G516E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AGAACTTTTCCCACAACCATT	0.358000													58	50					0	0	0.003610	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964910	32964910	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:32964910C>G	ENST00000321639.5	+	10	2942	c.2614C>G	c.(2614-2616)Ccc>Gcc	p.P872A		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	872						integral to membrane		p.P872A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GGAAACCGTGCCCGCCTTCTG	0.706000													11	24					0	0	0.010729	0	0
DNAI2	64446	broad.mit.edu	37	17	72301377	72301377	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:72301377G>A	ENST00000579490.1	+	8	1313	c.1178G>A	c.(1177-1179)gGg>gAg	p.G393E	DNAI2_ENST00000582036.1_Missense_Mutation_p.G336E|DNAI2_ENST00000307504.5_Missense_Mutation_p.G193E|DNAI2_ENST00000311014.6_Missense_Mutation_p.G336E|DNAI2_ENST00000446837.2_Missense_Mutation_p.G336E			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	336					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.G336E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TTCATGGTGGGGACCGAGCAG	0.577000									Kartagener syndrome				14	55					0	0	0.002450	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111636056	111636056	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:111636056A>G	ENST00000527614.1	-	2	232	c.167T>C	c.(166-168)gTa>gCa	p.V56A	PPP2R1B_ENST00000341980.6_Missense_Mutation_p.V56A|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.V56A|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.V56A|PPP2R1B_ENST00000427203.2_5'UTR	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	56							protein binding	p.V56A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GGTCCTTTCTACTCCAAGTGC	0.378000													39	59					0	0	0.006230	0	0
CSMD3	114788	broad.mit.edu	37	8	113402908	113402908	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:113402908C>A	ENST00000297405.5	-	36	6163	c.5919G>T	c.(5917-5919)gaG>gaT	p.E1973D	CSMD3_ENST00000343508.3_Missense_Mutation_p.E1933D|CSMD3_ENST00000352409.3_Missense_Mutation_p.E1903D|CSMD3_ENST00000455883.2_Missense_Mutation_p.E1869D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1973	CUB 11.					integral to membrane|plasma membrane		p.E1933D(1)|p.E1973D(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGCCAGCTCCCTCTGGCACTG	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	46					0.00909568	0.00985762	0.009096	1	0
LGSN	51557	broad.mit.edu	37	6	63990808	63990808	+	Silent	SNP	G	G	T	rs146916095		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:63990808G>T	ENST00000370657.4	-	4	681	c.648C>A	c.(646-648)ccC>ccA	p.P216P	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	216					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.P216P(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TTAAAATTTCGGGCACACCAA	0.403000													4	60					0.00909568	0.00985762	0.009096	1	0
NXF3	56000	broad.mit.edu	37	X	102334758	102334758	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:102334758G>T	ENST00000395065.3	-	13	1194	c.1093C>A	c.(1093-1095)Ctt>Att	p.L365I	NXF3_ENST00000497850.1_5'UTR|NXF3_ENST00000425644.1_Missense_Mutation_p.L37I	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	365	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.L365I(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TAAGCACTAAGGAGACCCTGT	0.542000													61	67					5.82218e-30	1.06789e-29	0.003610	1	0
ZNF215	7762	broad.mit.edu	37	11	6977683	6977683	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:6977683G>A	ENST00000278319.5	+	7	2063	c.1475G>A	c.(1474-1476)tGt>tAt	p.C492Y	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.C492Y	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	492					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C492Y(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CCATTCAAATGTAAGGAATGT	0.358000													8	50					0	0	0.004482	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833392	24833392	+	Silent	SNP	A	A	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:24833392A>C	ENST00000376451.2	+	14	4502	c.4242A>C	c.(4240-4242)atA>atC	p.I1414I	KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Silent_p.I1731I|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376462.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1731					embryonic skeletal system development	cytoplasm		p.I1731I(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTACGTCGATACCTTCAGCTT	0.498000													12	56					0	0	0.001368	0	0
PCOLCE	5118	broad.mit.edu	37	7	100205094	100205094	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:100205094G>T	ENST00000223061.5	+	7	1240	c.960G>T	c.(958-960)aaG>aaT	p.K320N		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	320	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.K320N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCTGCCCAAAGCAGTGCCGCC	0.592000													7	136					0.00198382	0.0022061	0.001984	1	0
CRIM1	51232	broad.mit.edu	37	2	36737268	36737268	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:36737268T>A	ENST00000280527.2	+	9	2011	c.1644T>A	c.(1642-1644)tgT>tgA	p.C548*		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	548	Antistasin-like 3.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	p.C548*(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				ACAAGTATTGTCCACTTGGAT	0.408000													8	46					0	0	0.003080	0	0
MXRA5	25878	broad.mit.edu	37	X	3261746	3261746	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:3261746G>T	ENST00000217939.6	-	2	283	c.129C>A	c.(127-129)ttC>ttA	p.F43L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	43	LRRNT.					extracellular region		p.F43L(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCAGGGATCGGAACGTGCAGT	0.597000													20	14					1.28384e-07	1.67744e-07	0.012319	1	0
SHC3	53358	broad.mit.edu	37	9	91653039	91653039	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:91653039C>T	ENST00000375835.4	-	11	1831	c.1525G>A	c.(1525-1527)Gca>Aca	p.A509T	SHC3_ENST00000375830.1_Missense_Mutation_p.A57T|SHC3_ENST00000375831.1_Missense_Mutation_p.A57T	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	509	SH2.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	p.A509T(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AGCCCCTCTGCCTCCTTCCTG	0.592000													21	376					0	0	0.010504	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647777	51647777	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:51647777C>G	ENST00000317643.6	+	2	617	c.548C>G	c.(547-549)tCc>tGc	p.S183C	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	183	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.S183C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CCTATGATCTCCTGGATGGGG	0.652000													34	112					0	0	0.004289	0	0
ISY1-RAB43	100534599	broad.mit.edu	37	3	128875701	128875701	+	Silent	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:128875701T>G	ENST00000418265.1	-	4	201	c.141A>C	c.(139-141)cgA>cgC	p.R47R	ISY1_ENST00000393295.3_Silent_p.R47R|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000273541.8_Silent_p.R47R|ISY1_ENST00000393292.3_Silent_p.R47R	NM_001204890.1	NP_001191819.1	Q9ULR0	ISY1_HUMAN		47						catalytic step 2 spliceosome		p.R47R(1)									AACATACCTGTCGTCTCCACT	0.353000													23	52					0	0	0.002780	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189945	58189945	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:58189945G>C	ENST00000318203.5	+	5	1671	c.974G>C	c.(973-975)tGt>tCt	p.C325S		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	325					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C325S(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGTATCTCTGTCACTTATTA	0.433000													50	22					0	0	0.003610	0	0
INPPL1	3636	broad.mit.edu	37	11	71946456	71946456	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:71946456G>A	ENST00000298229.2	+	23	2824	c.2620G>A	c.(2620-2622)Gtg>Atg	p.V874M	INPPL1_ENST00000541756.1_Missense_Mutation_p.V632M|INPPL1_ENST00000538751.1_Missense_Mutation_p.V632M	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	874					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	p.V874M(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GAAGGTGCGGGTGCCCACGGA	0.612000													24	120					0	0	0.003954	0	0
SHQ1	55164	broad.mit.edu	37	3	72890352	72890352	+	Splice_Site	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:72890352T>C	ENST00000325599.8	-	4	471		c.e4-2		SHQ1_ENST00000463369.1_Splice_Site	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor						ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CAGAAGCACCTGAATGTGtta	0.358000													15	28					0	0	0.002450	0	0
ATP12A	479	broad.mit.edu	37	13	25268600	25268600	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:25268600G>A	ENST00000218548.6	+	11	1747	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	ATP12A_ENST00000381946.3_Missense_Mutation_p.A466T	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	466					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.A466T(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)	GATTGGAGATGCCTCAGAAAC	0.388000											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	97					0	0	0.003610	0	0
PTPRN2	5799	broad.mit.edu	37	7	157364165	157364165	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:157364165C>A	ENST00000389413.3	-	19	2820	c.2717G>T	c.(2716-2718)aGg>aTg	p.R906M	PTPRN2_ENST00000404321.2_Missense_Mutation_p.R958M|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R897M|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R918M|PTPRN2_ENST00000389418.4_Missense_Mutation_p.R935M	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	935	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R935I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGAACGGCCCCTGTAGCACTT	0.318000													20	73					1.01871e-10	1.47611e-10	0.008871	1	0
PHKA2	5256	broad.mit.edu	37	X	18956834	18956834	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:18956834G>T	ENST00000379942.4	-	10	1617	c.952C>A	c.(952-954)Ctc>Atc	p.L318I		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	318					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.L318I(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AAGAGCTTGAGTTCAGCAGGG	0.383000													11	61					1.58986e-06	2.00323e-06	0.008291	1	0
CLCN4	1183	broad.mit.edu	37	X	10174600	10174600	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:10174600G>T	ENST00000380833.4	+	7	1149	c.758G>T	c.(757-759)cGg>cTg	p.R253L	CLCN4_ENST00000380829.1_Missense_Mutation_p.R253L|CLCN4_ENST00000421085.2_Missense_Mutation_p.R159L	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	253						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	p.R253L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGCAAGAGGCGGGAGGTGAGC	0.537000													14	17					2.61681e-11	3.84171e-11	0.002450	1	0
SLC6A6	6533	broad.mit.edu	37	3	14489310	14489310	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:14489310C>T	ENST00000454876.2	+	5	914	c.585C>T	c.(583-585)gtC>gtT	p.V195V	SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000360861.3_Silent_p.V195V|SLC6A6_ENST00000416216.2_Silent_p.V195V			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	195					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	p.V195V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CCTCCCCTGTCATCGAGTTCT	0.557000													5	59					0	0	0.000602	0	0
DMRTA1	63951	broad.mit.edu	37	9	22447651	22447651	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:22447651T>A	ENST00000325870.1	+	1	812	c.587T>A	c.(586-588)cTg>cAg	p.L196Q		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	196					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.L196Q(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GCGCTGGGACTGGGTGCCTTG	0.642000													9	20					0	0	0.004482	0	0
ERVW-1	30816	broad.mit.edu	37	7	92099434	92099434	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:92099434T>A	ENST00000493463.2	-	1	1185	c.262A>T	c.(262-264)Aca>Tca	p.T88S	ERVW-1_ENST00000604270.1_Intron|ERVW-1_ENST00000603053.1_Missense_Mutation_p.T88S|AC007566.10_ENST00000427458.1_RNA	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		88					syncytium formation	integral to membrane|plasma membrane|virion		p.T88S(1)		endometrium(1)|large_intestine(1)|lung(15)	17						atttttcctgtccaataatga	0.478000													28	55					0	0	0.006320	0	0
RGPD4	285190	broad.mit.edu	37	2	108476182	108476182	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:108476182G>A	ENST00000408999.3	+	12	1716	c.1639G>A	c.(1639-1641)Gga>Aga	p.G547R	RGPD4_ENST00000354986.4_Missense_Mutation_p.G547R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	547					intracellular transport		binding	p.G547R(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTTTAGACCTGGAAACTCAGC	0.353000													9	155					0	0	0.006214	0	0
GSTZ1	2954	broad.mit.edu	37	14	77796651	77796651	+	Splice_Site	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:77796651A>T	ENST00000393734.1	+	9	846		c.e9-1		GSTZ1_ENST00000553586.1_Splice_Site|GSTZ1_ENST00000361389.4_Splice_Site|GSTZ1_ENST00000349555.3_Splice_Site|GSTZ1_ENST00000554279.1_Splice_Site|GSTZ1_ENST00000557639.1_Splice_Site|GSTZ1_ENST00000216465.5_Splice_Site|GSTZ1_ENST00000557053.1_Splice_Site|GSTZ1_ENST00000556627.1_Splice_Site	NM_001513.3	NP_001504.2	O43708	MAAI_HUMAN	glutathione S-transferase zeta 1						glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity	p.?(2)		lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	GACCTCTTTCAGGTGACCATG	0.592000													32	88					0	0	0.010818	0	0
DAG1	1605	broad.mit.edu	37	3	49568631	49568631	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:49568631G>A	ENST00000545947.1	+	6	1409	c.687G>A	c.(685-687)ccG>ccA	p.P229P	DAG1_ENST00000541308.1_Silent_p.P229P|DAG1_ENST00000539901.1_Silent_p.P229P|DAG1_ENST00000515359.2_Silent_p.P229P|DAG1_ENST00000308775.2_Silent_p.P229P|DAG1_ENST00000538711.1_Silent_p.P229P	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	229	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	p.P229P(1)		NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AATTAGTGCCGGTGGTGAATA	0.517000													5	52					0	0	0.000602	0	0
NXF1	10482	broad.mit.edu	37	11	62569425	62569425	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:62569425C>A	ENST00000531709.2	-	5	660	c.547G>T	c.(547-549)Gag>Tag	p.E183*	NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000439713.2_Nonsense_Mutation_p.E183*|NXF1_ENST00000532297.1_Nonsense_Mutation_p.E183*|NXF1_ENST00000294172.2_Nonsense_Mutation_p.E183*	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	183	Interaction with THOC4.|RRM.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	p.E183*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTCGGTTCTCCCGATCCAAA	0.517000													20	101					1.56452e-12	2.36886e-12	0.007413	1	0
PCDH10	57575	broad.mit.edu	37	4	134075490	134075490	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:134075490A>T	ENST00000264360.4	+	2	3486	c.2660A>T	c.(2659-2661)tAt>tTt	p.Y887F		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	887					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y887F(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAGCTCAGCTATCTAGTTGAC	0.383000													9	29					0	0	0.006214	0	0
ENGASE	64772	broad.mit.edu	37	17	77078168	77078168	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:77078168G>T	ENST00000539857.2	+	6	918	c.503G>T	c.(502-504)aGg>aTg	p.R168M	ENGASE_ENST00000584568.1_Intron|ENGASE_ENST00000579016.1_Intron			Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	466						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TTTCGTCCAAGGGCCAGCGGC	0.602000													21	41					1.00905e-13	1.56208e-13	0.008871	1	0
ADH7	131	broad.mit.edu	37	4	100340266	100340266	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:100340266C>G	ENST00000437033.2	-	7	1341	c.838G>C	c.(838-840)Gca>Cca	p.A280P	ADH7_ENST00000209665.4_Missense_Mutation_p.A292P|ADH7_ENST00000482593.1_Missense_Mutation_p.A223P|ADH7_ENST00000476959.1_Missense_Mutation_p.A300P			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	292					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.A292P(1)|p.A300P(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TGGCAGGATGCCAGGGCATCA	0.483000													7	20					0	0	0.001984	0	0
HRNR	388697	broad.mit.edu	37	1	152192040	152192040	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:152192040C>A	ENST00000368801.2	-	3	2140	c.2065G>T	c.(2065-2067)Ggc>Tgc	p.G689C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	689					keratinization		calcium ion binding|protein binding	p.G689C(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTGGGCCATTGCTTGAA	0.577000													207	201					1.15354e-74	2.21682e-74	0.003610	1	0
SCN3A	6328	broad.mit.edu	37	2	166026944	166026944	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:166026944G>A	ENST00000360093.3	-	4	870	c.379C>T	c.(379-381)Cat>Tat	p.H127Y	SCN3A_ENST00000409101.3_Missense_Mutation_p.H127Y|SCN3A_ENST00000283254.7_Missense_Mutation_p.H127Y	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	127						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.H127Y(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)	GGATATGAATGTACCAAAATC	0.308000													19	48					0	0	0.008871	0	0
EPHA3	2042	broad.mit.edu	37	3	89176389	89176389	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:89176389G>T	ENST00000336596.2	+	2	344	c.119G>T	c.(118-120)gGg>gTg	p.G40V	EPHA3_ENST00000452448.2_Missense_Mutation_p.G40V|EPHA3_ENST00000494014.1_Missense_Mutation_p.G40V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	40						extracellular region|integral to plasma membrane	ATP binding	p.G40V(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACAATTCAAGGGGAGCTGGGC	0.348000										TSP Lung(6;0.00050)			41	76					1.23103e-26	2.21861e-26	0.013114	1	0
TMA16	55319	broad.mit.edu	37	4	164436533	164436533	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:164436533G>A	ENST00000358572.5	+	5	649	c.308G>A	c.(307-309)gGg>gAg	p.G103E	TMA16_ENST00000513272.1_Intron|TMA16_ENST00000513134.1_Intron|TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000508268.1_Missense_Mutation_p.G103E	NM_018352.2	NP_060822.2	Q96EY4	CD043_HUMAN	translation machinery associated 16 homolog (S. cerevisiae)	103								p.G103E(1)									GACAGGCAGGGGAGGCGGCAC	0.478000													9	115					0	0	0.008291	0	0
ZNF398	57541	broad.mit.edu	37	7	148875854	148875854	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:148875854C>G	ENST00000420008.2	+	6	1165	c.377C>G	c.(376-378)gCt>gGt	p.A126G	ZNF398_ENST00000483892.1_Missense_Mutation_p.A126G|ZNF398_ENST00000335901.4_Missense_Mutation_p.A126G|ZNF398_ENST00000475153.1_Missense_Mutation_p.A297G|ZNF398_ENST00000426851.2_Missense_Mutation_p.A126G|ZNF398_ENST00000491174.1_Missense_Mutation_p.A126G|ZNF398_ENST00000540950.1_Missense_Mutation_p.A302G	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	297					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A297G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TCAGATGTGGCTTTCAAAAGC	0.507000													86	253					0	0	0.003610	0	0
NAT1	9	broad.mit.edu	37	8	18079725	18079725	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:18079725G>T	ENST00000539092.1	+	5	860	c.169G>T	c.(169-171)Gat>Tat	p.D57Y	NAT1_ENST00000541942.1_Missense_Mutation_p.D57Y|NAT1_ENST00000545197.1_Missense_Mutation_p.D119Y|NAT1_ENST00000307719.4_Missense_Mutation_p.D57Y|NAT1_ENST00000517492.1_Missense_Mutation_p.D57Y|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000520546.1_Missense_Mutation_p.D57Y|NAT1_ENST00000535084.1_Missense_Mutation_p.D57Y|NAT1_ENST00000518029.1_Missense_Mutation_p.D57Y	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	57					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	p.D57Y(1)|p.D119Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		GGCCATTTTTGATCAAGTTGT	0.463000													22	147					1.50039e-11	2.21843e-11	0.012319	1	0
FOXO1	2308	broad.mit.edu	37	13	41134699	41134699	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:41134699C>A	ENST00000379561.5	-	2	1313	c.929G>T	c.(928-930)tGg>tTg	p.W310L		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	310					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	p.W310L(2)	PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		AAATGTACTCCAGTTATCAAA	0.512000													25	61					7.33532e-06	8.98468e-06	0.003954	1	0
MCAM	4162	broad.mit.edu	37	11	119180620	119180620	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:119180620C>G	ENST00000264036.4	-	16	1931	c.1917G>C	c.(1915-1917)gaG>gaC	p.E639D	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	639					anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		p.E639D(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CGATGTATTTCTCTCCCTAAA	0.547000													3	4					0	0	0.004672	0	0
ZEB1	6935	broad.mit.edu	37	10	31810711	31810711	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:31810711C>T	ENST00000446923.2	+	7	2791	c.2400C>T	c.(2398-2400)gcC>gcT	p.A800A	ZEB1_ENST00000560721.2_Silent_p.A796A|ZEB1_ENST00000542815.3_Silent_p.A749A|ZEB1_ENST00000320985.10_Silent_p.A816A|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Silent_p.A817A	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	816					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.A816A(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CAATCGTGGCCATTGCTGACC	0.473000													40	43					0	0	0.005524	0	0
DPM1	8813	broad.mit.edu	37	20	49562404	49562404	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:49562404C>T	ENST00000371582.4	-	4	383	c.352G>A	c.(352-354)Gat>Aat	p.D118N	DPM1_ENST00000371588.5_Missense_Mutation_p.D118N|DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371583.5_Missense_Mutation_p.D118N			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	118					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding	p.D118N(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						AGATCAGCATCCATAATAATG	0.318000													8	71					0	0	0.003080	0	0
NHS	4810	broad.mit.edu	37	X	17705957	17705957	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:17705957C>A	ENST00000380060.3	+	2	999	c.661C>A	c.(661-663)Ccc>Acc	p.P221T	NHS_ENST00000398097.3_Missense_Mutation_p.P44T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	221						nucleus		p.P221T(1)|p.P44T(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CACAAGGCCACCCTGCGTGGA	0.642000													11	70					0.00010058	0.000117155	0.001368	1	0
PSMA4	5685	broad.mit.edu	37	15	78838104	78838104	+	Missense_Mutation	SNP	G	G	T	rs147172987		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:78838104G>T	ENST00000044462.7	+	7	655	c.505G>T	c.(505-507)Gct>Tct	p.A169S	PSMA4_ENST00000558094.1_Missense_Mutation_p.A81S|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000558281.1_Missense_Mutation_p.A169S|PSMA4_ENST00000559082.1_Missense_Mutation_p.A169S|PSMA4_ENST00000413382.2_Missense_Mutation_p.A98S|PSMA4_ENST00000560217.1_Missense_Mutation_p.A138S	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	169					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	p.A169S(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						AAATAATAGCGCTGTGAGTAT	0.398000													35	94					3.11337e-16	5.00697e-16	0.002836	1	0
OR51I1	390063	broad.mit.edu	37	11	5462407	5462407	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:5462407T>C	ENST00000380211.1	-	1	337	c.338A>G	c.(337-339)gAg>gGg	p.E113G	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E113G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGCCTGACTCCATGAAGGA	0.453000													7	69					0	0	0.001984	0	0
KCNK10	54207	broad.mit.edu	37	14	88729829	88729829	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:88729829G>C	ENST00000340700.5	-	2	555	c.104C>G	c.(103-105)cCg>cGg	p.P35R	KCNK10_ENST00000319231.5_Missense_Mutation_p.P40R|KCNK10_ENST00000312350.5_Missense_Mutation_p.P40R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	35					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.P40R(2)|p.P35R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGTCGGAGCCGGAGCCGGGGG	0.647000													14	54					0	0	0.004007	0	0
MIR920	100126320	broad.mit.edu	37	12	24365400	24365400	+	RNA	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:24365400C>A	ENST00000401373.1	+	0	46					NR_030625.1																						CTAAGACACACTCCAGGGGAG	0.453000													11	86					0.00136819	0.00152854	0.001368	1	0
UBN1	29855	broad.mit.edu	37	16	4927035	4927035	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:4927035C>T	ENST00000396658.4	+	15	3891	c.3188C>T	c.(3187-3189)tCt>tTt	p.S1063F	UBN1_ENST00000590769.1_Missense_Mutation_p.S1063F|UBN1_ENST00000545171.1_Missense_Mutation_p.S1063F|UBN1_ENST00000262376.6_Missense_Mutation_p.S1063F	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1063					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.S1063F(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCTGACTCCTCTGCCAAAGCA	0.582000													25	171					0	0	0.003954	0	0
PTPN3	5774	broad.mit.edu	37	9	112151516	112151516	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:112151516C>A	ENST00000412145.1	-	17	4410	c.1857G>T	c.(1855-1857)ggG>ggT	p.G619G	PTPN3_ENST00000394827.3_Silent_p.G218G|PTPN3_ENST00000497739.1_Intron|PTPN3_ENST00000262539.3_Silent_p.G596G|PTPN3_ENST00000374541.2_Silent_p.G750G|PTPN3_ENST00000446349.1_Silent_p.G574G	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	750					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	p.G750G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TACTTACCCGCCCTCGTTCTG	0.512000													24	41					9.57634e-11	1.39039e-10	0.003330	1	0
KCNE4	23704	broad.mit.edu	37	2	223917758	223917758	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:223917758G>T	ENST00000281830.3	+	2	694	c.363G>T	c.(361-363)ctG>ctT	p.L121L	KCNE4_ENST00000604125.1_Silent_p.L70L|KCNE4_ENST00000488477.2_Intron			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	70						integral to membrane	voltage-gated potassium channel activity	p.L70L(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCAGCCTCCTGCTGCTGTACA	0.567000													8	76					0.00307968	0.00340126	0.003080	1	0
CHRM2	1129	broad.mit.edu	37	7	136700962	136700962	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:136700962C>A	ENST00000445907.2	+	3	1878	c.1350C>A	c.(1348-1350)acC>acA	p.T450T	CHRM2_ENST00000397608.3_Silent_p.T450T|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Silent_p.T450T|CHRM2_ENST00000453373.1_Silent_p.T450T|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Silent_p.T450T|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Silent_p.T450T	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	450					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.T450T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCAAGAAGACCTTTAAACACC	0.423000													32	104					8.88839e-20	1.51878e-19	0.010818	1	0
STON2	85439	broad.mit.edu	37	14	81744066	81744066	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:81744066A>T	ENST00000555447.1	-	6	2001	c.1589T>A	c.(1588-1590)cTg>cAg	p.L530Q	STON2_ENST00000267540.2_Missense_Mutation_p.L530Q	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	530	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	p.L530Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGTGGTGCCCAGCTTAATCAC	0.507000													6	100					0	0	0.001984	0	0
DNAJC6	9829	broad.mit.edu	37	1	65831778	65831778	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:65831778G>A	ENST00000395325.3	+	4	428	c.271G>A	c.(271-273)Gtt>Att	p.V91I	DNAJC6_ENST00000263441.7_Missense_Mutation_p.V78I|DNAJC6_ENST00000371069.4_Missense_Mutation_p.V148I	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	91	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	p.V91I(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CAGGAATCAGGTTGATGACAT	0.413000													71	135					0	0	0.003610	0	0
APLNR	187	broad.mit.edu	37	11	57004350	57004350	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:57004350G>A	ENST00000606794.1	-	1	325	c.129C>T	c.(127-129)acC>acT	p.T43T		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	43						integral to plasma membrane	G-protein coupled receptor activity	p.T43T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CGTTGCCCGTGGTGCCCAGGA	0.587000													17	29					0	0	0.004990	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343343	130343343	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:130343343G>T	ENST00000299164.2	+	8	2480	c.2480G>T	c.(2479-2481)aGc>aTc	p.S827I		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	827	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S827I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AGCGTCCTCAGCCTCTCCAAC	0.672000													25	99					1.10923e-09	1.55593e-09	0.002780	1	0
VPS13C	54832	broad.mit.edu	37	15	62276213	62276213	+	Splice_Site	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:62276213T>C	ENST00000261517.5	-	20	1795		c.e20-2		VPS13C_ENST00000395898.3_Splice_Site|VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)						protein localization			p.?(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCTTCTACCCTATAATCCAAT	0.368000													10	25					0	0	0.006214	0	0
MXRA5	25878	broad.mit.edu	37	X	3242456	3242456	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:3242456G>C	ENST00000217939.6	-	5	1424	c.1270C>G	c.(1270-1272)Cag>Gag	p.Q424E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	424						extracellular region		p.Q424E(2)|p.Q424K(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCAAGAATCTGGGCTCTCACA	0.512000													107	62					0	0	0.003610	0	0
NR0B1	190	broad.mit.edu	37	X	30322836	30322836	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:30322836T>A	ENST00000378970.4	-	2	1507	c.1273A>T	c.(1273-1275)Aga>Tga	p.R425*		NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	425	Ligand-binding (By similarity).		R -> G (in XL-AHC).|R -> T (in XL-AHC).		adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	p.R425*(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TCGATGAATCTGTCATGGGGC	0.507000													17	113					0	0	0.004007	0	0
SLC26A7	115111	broad.mit.edu	37	8	92406486	92406486	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:92406486C>A	ENST00000309536.2	+	19	2196	c.1976C>A	c.(1975-1977)aCa>aAa	p.T659K	SLC26A7_ENST00000523719.1_Intron|SLC26A7_ENST00000276609.3_Intron|SLC26A7_ENST00000520249.1_Intron	NM_134266.1	NP_599028.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	0						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.T659K(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GATCTTCCAACAATGCCACCG	0.423000													7	53					5.18039e-06	6.40477e-06	0.003080	1	0
ZNF497	162968	broad.mit.edu	37	19	58868093	58868093	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:58868093G>A	ENST00000311044.3	-	3	1097	c.909C>T	c.(907-909)ccC>ccT	p.P303P	ZNF497_ENST00000425453.3_Silent_p.P303P|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P303P(1)		central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		ACTCGGCGCAGGGGAAGGGCT	0.721000													6	2					0	0	0.001168	0	0
GAK	2580	broad.mit.edu	37	4	845702	845702	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:845702C>A	ENST00000314167.4	-	25	3454	c.3344G>T	c.(3343-3345)gGc>gTc	p.G1115V	GAK_ENST00000511163.1_Missense_Mutation_p.G1036V|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1115					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.G1115V(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGAGCTGCTGCCTTTGGGCGT	0.647000													5	24					0.000602214	0.000681726	0.000602	1	0
HERC1	8925	broad.mit.edu	37	15	64045285	64045285	+	Splice_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:64045285C>A	ENST00000443617.2	-	8	1862		c.e8-1			NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1						protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.?(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCAAGTTTACCTATAAAAACA	0.338000													11	43					0.000673444	0.000759985	0.008291	1	0
SORL1	6653	broad.mit.edu	37	11	121393650	121393650	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:121393650C>G	ENST00000260197.7	+	11	1677	c.1548C>G	c.(1546-1548)agC>agG	p.S516R	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	516					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.S516R(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACTTGGCTAGCAAGACAAACG	0.473000													5	79					0	0	0.000602	0	0
KCNJ2	3759	broad.mit.edu	37	17	68172385	68172385	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:68172385C>G	ENST00000243457.3	+	2	1588	c.1205C>G	c.(1204-1206)aCg>aGg	p.T402R	KCNJ2_ENST00000535240.1_Missense_Mutation_p.T402R	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	402					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	p.T402R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGTACGGACACGCCCCCTGAC	0.478000													7	121					0	0	0.003080	0	0
SI	6476	broad.mit.edu	37	3	164760918	164760918	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:164760918G>A	ENST00000264382.3	-	17	1995	c.1933C>T	c.(1933-1935)Ctt>Ttt	p.L645F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	645	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.L645F(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTTCTGCAAAGTTCTTCTGTG	0.368000										HNSCC(35;0.089)			10	64					0	0	0.006214	0	0
FAM115C	285966	broad.mit.edu	37	7	143421773	143421773	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:143421773C>A	ENST00000441159.2	+	7	2554	c.2488C>A	c.(2488-2490)Ctg>Atg	p.L830M	FAM115C_ENST00000357344.4_Missense_Mutation_p.L830M|FAM115C_ENST00000425618.2_Missense_Mutation_p.L549M|FAM115C_ENST00000411935.1_Missense_Mutation_p.L726M|FAM115C_ENST00000411497.2_Missense_Mutation_p.L549M|FAM115C_ENST00000444908.2_Missense_Mutation_p.L830M|FAM115C_ENST00000409703.3_Missense_Mutation_p.L726M			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	830								p.L830M(1)		endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						ATGGACAGCCCTGGAAACATA	0.577000													6	98					0.00448238	0.00493539	0.004482	1	0
CCDC129	223075	broad.mit.edu	37	7	31682811	31682811	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:31682811C>A	ENST00000319386.3	+	11	2376	c.1383C>A	c.(1381-1383)ttC>ttA	p.F461L	CCDC129_ENST00000409210.1_Missense_Mutation_p.F517L|CCDC129_ENST00000451887.2_Missense_Mutation_p.F635L|CCDC129_ENST00000407970.3_Missense_Mutation_p.F609L			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	609								p.F609L(1)|p.F461L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAGACAAGTTCCTTCATGTTG	0.493000													35	90					1.06647e-15	1.70002e-15	0.003755	1	0
SORCS1	114815	broad.mit.edu	37	10	108536424	108536424	+	Silent	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:108536424A>G	ENST00000263054.6	-	4	760	c.753T>C	c.(751-753)atT>atC	p.I251I	SORCS1_ENST00000344440.6_Silent_p.I251I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	251						integral to membrane	neuropeptide receptor activity|protein binding	p.I251I(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AACTGCTCTCAATCTCCGGGT	0.373000													6	58					0	0	0.001168	0	0
RSPO1	284654	broad.mit.edu	37	1	38079564	38079564	+	Splice_Site	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:38079564G>T	ENST00000356545.2	-	7	1224	c.436_splice	c.e7-1	p.A146_splice	RSPO1_ENST00000401069.1_Splice_Site_p.A146_splice|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401068.1_Splice_Site_p.A146_splice|RSPO1_ENST00000373059.1_Splice_Site_p.A119_splice|RSPO1_ENST00000401071.2_Intron	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	146					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	p.A146E(1)|p.A146V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTCACATTGCGCTGGCAGGAA	0.612000													11	66					0.000978159	0.00110043	0.010729	1	0
MYPN	84665	broad.mit.edu	37	10	69934412	69934412	+	Splice_Site	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:69934412A>T	ENST00000358913.5	+	11	3051	c.2564_splice	c.e11+1	p.M855_splice	MYPN_ENST00000354393.2_Splice_Site_p.M580_splice|MYPN_ENST00000540630.1_Splice_Site_p.M855_splice	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	855	Pro-rich.					nucleus|sarcomere	actin binding	p.M855L(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TGCACCATCCATGTAAGTGTC	0.483000													5	41					0	0	0.001168	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520375	33520375	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:33520375C>A	ENST00000297307.5	-	1	1037	c.952G>T	c.(952-954)Ggc>Tgc	p.G318C		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	318	DUF6 2.					integral to membrane		p.G318C(1)									GCAATGCTGCCCAGCACAACC	0.562000													25	133					2.48779e-11	3.65971e-11	0.005443	1	0
SPAG5	10615	broad.mit.edu	37	17	26912943	26912943	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:26912943A>C	ENST00000321765.5	-	7	2011	c.1679T>G	c.(1678-1680)cTc>cGc	p.L560R		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	560					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	p.L560R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TTCTGCTTTGAGGCTCTGGAG	0.473000													62	255					0	0	0.003610	0	0
RASSF6	166824	broad.mit.edu	37	4	74450995	74450995	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:74450995C>G	ENST00000307439.5	-	6	763	c.469G>C	c.(469-471)Gca>Cca	p.A157P	RASSF6_ENST00000342081.3_Missense_Mutation_p.A189P|RASSF6_ENST00000395777.2_Missense_Mutation_p.A157P|RASSF6_ENST00000335049.5_Missense_Mutation_p.A145P	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	189					apoptosis|signal transduction		protein binding	p.A189P(1)|p.A157P(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			ACCAGAGCTGCTTCACTCATG	0.418000													20	103					0	0	0.008871	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803591	142803591	+	RNA	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:142803591G>A	ENST00000423385.1	-	0	1374																											AAAAAATTATGTTAACTAAGA	0.274000													6	160					0	0	0.001168	0	0
EML4	27436	broad.mit.edu	37	2	42472648	42472648	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:42472648A>G	ENST00000318522.5	+	2	291	c.29A>G	c.(28-30)gAt>gGt	p.D10G	EML4_ENST00000402711.2_Missense_Mutation_p.D10G|EML4_ENST00000401738.3_Missense_Mutation_p.D10G|EML4_ENST00000482660.1_3'UTR	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	10					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	p.D10G(2)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TTTATAGATGATAGTATTTCT	0.338000			T	ALK	NSCLC								11	10					0	0	0.010729	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099936	142099936	+	RNA	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:142099936C>A	ENST00000390359.3	-	0	41																											GCCTGGTGCCCATGGCAGGGT	0.547000													30	110					4.74835e-14	7.40621e-14	0.010818	1	0
OR2M3	127062	broad.mit.edu	37	1	248366706	248366706	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:248366706T>A	ENST00000456743.1	+	1	375	c.337T>A	c.(337-339)Ttt>Att	p.F113I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F113I(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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)			CTCTGAGTGCTTTCTTTTGGC	0.453000													45	365					0	0	0.011902	0	0
N4BP2	55728	broad.mit.edu	37	4	40104082	40104082	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:40104082C>G	ENST00000261435.6	+	4	1033	c.617C>G	c.(616-618)tCt>tGt	p.S206C		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	206						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	p.S206C(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTAGAGAATTCTGGTTCTACT	0.308000													23	26					0	0	0.003330	0	0
GPR112	139378	broad.mit.edu	37	X	135432390	135432390	+	Silent	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:135432390G>C	ENST00000394143.1	+	6	6816	c.6525G>C	c.(6523-6525)ctG>ctC	p.L2175L	GPR112_ENST00000394141.1_Silent_p.L1970L|GPR112_ENST00000370652.1_Silent_p.L2175L|GPR112_ENST00000287534.4_Silent_p.L2112L|GPR112_ENST00000412101.1_Silent_p.L1970L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2175					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L2175L(1)		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)					AGCCCACACTGGACTCCCTTC	0.433000													51	63					0	0	0.003610	0	0
OTOL1	131149	broad.mit.edu	37	3	161221532	161221532	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:161221532G>T	ENST00000327928.4	+	4	1236	c.1236G>T	c.(1234-1236)caG>caT	p.Q412H		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	412	C1q.					collagen		p.Q412H(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						ATAAGAAGCAGTTCAAGTCCA	0.473000													8	42					0.00307968	0.00340126	0.003080	1	0
PXDNL	137902	broad.mit.edu	37	8	52233380	52233380	+	Silent	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:52233380G>C	ENST00000356297.4	-	22	4324	c.4224C>G	c.(4222-4224)cgC>cgG	p.R1408R	PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1408	VWFC.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R1408R(1)		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)				CTTTCATCCAGCGCTCCTCGG	0.522000													32	116					0	0	0.012213	0	0
LPCAT1	79888	broad.mit.edu	37	5	1474090	1474090	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:1474090C>T	ENST00000283415.3	-	11	1293	c.1161G>A	c.(1159-1161)atG>atA	p.M387I		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	387	EF-hand 1.				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	p.M387I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ACAGTGAAAACATGTCTTCCA	0.498000													9	34					0	0	0.004482	0	0
OR7D4	125958	broad.mit.edu	37	19	9325365	9325365	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:9325365C>T	ENST00000308682.2	-	1	177	c.149G>A	c.(148-150)aGc>aAc	p.S50N		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S50N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GGAGTCAGAGCTGACGGCCAG	0.547000													12	67					0	0	0.001368	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27997759	27997759	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:27997759T>A	ENST00000441525.1	-	1	1807	c.1693A>T	c.(1693-1695)Aga>Tga	p.R565*		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	565								p.R565*(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCATGATCTCTCCAGCCGGGT	0.517000													11	93					0	0	0.010729	0	0
FOXK2	3607	broad.mit.edu	37	17	80478022	80478022	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:80478022G>T	ENST00000335255.5	+	1	432	c.258G>T	c.(256-258)ccG>ccT	p.P86P		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	86	FHA.|Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200).	embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P86P(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TCAcgcccccgggcggcggcg	0.736000													11	24					5.50884e-06	6.75894e-06	0.001368	1	0
HECTD4	283450	broad.mit.edu	37	12	112650355	112650355	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:112650355C>A	ENST00000550722.1	-	49	7522	c.7127G>T	c.(7126-7128)cGc>cTc	p.R2376L	HECTD4_ENST00000377560.5_Missense_Mutation_p.R2350L|HECTD4_ENST00000430131.2_Missense_Mutation_p.R2100L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.R2100L(1)|p.R2350L(1)									TGGTGAGAGGCGCTGCCCGCA	0.552000													47	84					5.2432e-18	8.68274e-18	0.003610	1	0
ADAM33	80332	broad.mit.edu	37	20	3655281	3655281	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:3655281C>T	ENST00000356518.2	-	6	711	c.470G>A	c.(469-471)gGc>gAc	p.G157D	ADAM33_ENST00000350009.2_Missense_Mutation_p.G157D|ADAM33_ENST00000379861.4_Missense_Mutation_p.G157D	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	157					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G157D(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GTCCTTGGAGCCCCGGGGTGG	0.602000													33	94					0	0	0.002836	0	0
STIM1	6786	broad.mit.edu	37	11	4103450	4103450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:4103450G>T	ENST00000300737.4	+	8	1575	c.1006G>T	c.(1006-1008)Gaa>Taa	p.E336*	STIM1_ENST00000533977.1_Nonsense_Mutation_p.E163*|STIM1_ENST00000527651.1_Nonsense_Mutation_p.E336*	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	336	Glu-rich.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	p.E336*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GAAGGAGCTAGAATCTCACAG	0.478000													9	54					3.86212e-05	4.56089e-05	0.008291	1	0
OGT	8473	broad.mit.edu	37	X	70775075	70775075	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:70775075G>T	ENST00000373719.3	+	7	981	c.764G>T	c.(763-765)aGt>aTt	p.S255I	OGT_ENST00000373701.3_Missense_Mutation_p.S245I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	255					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.S255I(1)|p.S245I(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CTAAGTTTGAGTCCAAATCAC	0.473000													27	24					8.24728e-16	1.31611e-15	0.004656	1	0
LILRA2	11027	broad.mit.edu	37	19	55086873	55086873	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:55086873G>T	ENST00000251377.3	+	6	939	c.806G>T	c.(805-807)tGg>tTg	p.W269L	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.W269L|LILRA2_ENST00000391737.1_Missense_Mutation_p.W257L|LILRA2_ENST00000251376.3_Missense_Mutation_p.W269L					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.W269L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CGCCCTGGTTGGCAGCCCCAG	0.622000													12	72					7.03913e-09	9.62235e-09	0.001368	1	0
MUC16	94025	broad.mit.edu	37	19	9068673	9068673	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:9068673G>T	ENST00000397910.4	-	3	18976	c.18773C>A	c.(18772-18774)aCa>aAa	p.T6258K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6260	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T6258K(2)|p.T1891K(1)		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						CTTCGCCAGTGTAGGGGTGGG	0.488000													13	92					0.00010058	0.000117155	0.001368	1	0
NLRP1	22861	broad.mit.edu	37	17	5463315	5463315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:5463315C>T	ENST00000345221.3	-	4	1255	c.701G>A	c.(700-702)tGg>tAg	p.W234*	NLRP1_ENST00000262467.5_Nonsense_Mutation_p.W234*|NLRP1_ENST00000354411.3_Nonsense_Mutation_p.W234*|NLRP1_ENST00000577119.1_Nonsense_Mutation_p.W234*|NLRP1_ENST00000269280.4_Nonsense_Mutation_p.W234*|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Nonsense_Mutation_p.W234*	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	234					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.W234*(3)		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)				CACCGCTGCCCATGGGGGCCT	0.527000													18	47					0	0	0.006122	0	0
OTC	5009	broad.mit.edu	37	X	38226591	38226591	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:38226591T>A	ENST00000039007.4	+	2	277	c.125T>A	c.(124-126)cTt>cAt	p.L42H	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	42					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	p.L42H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	GGCCGTGACCTTCTCACTCTA	0.363000													9	40					0	0	0.004482	0	0
TARS	6897	broad.mit.edu	37	5	33457488	33457488	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:33457488G>T	ENST00000265112.3	+	9	1275	c.964G>T	c.(964-966)Gat>Tat	p.D322Y	TARS_ENST00000455217.2_Missense_Mutation_p.D355Y|TARS_ENST00000502553.1_Missense_Mutation_p.D322Y|TARS_ENST00000541634.1_Missense_Mutation_p.D218Y|TARS_ENST00000414361.2_Missense_Mutation_p.D201Y	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	322					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.D322Y(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TAAAAACCGAGATCATAGGAA	0.383000													20	67					1.00905e-13	1.56208e-13	0.008871	1	0
TRAV2	28691	broad.mit.edu	37	14	22180802	22180802	+	RNA	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:22180802G>A	ENST00000390424.2	+	0	84																											GTTGCAGAAAGCAAGGACCAA	0.428000													11	107					0	0	0.010729	0	0
CACNA1D	776	broad.mit.edu	37	3	53836179	53836179	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:53836179G>A	ENST00000288139.3	+	44	5592	c.5474G>A	c.(5473-5475)cGc>cAc	p.R1825H	CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1805H|CACNA1D_ENST00000544977.1_Missense_Mutation_p.R184H|CACNA1D_ENST00000422281.2_Intron	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1805					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R1825H(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GATAGAACCCGCTATTATGAA	0.398000													8	197					0	0	0.004482	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597158	136597158	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:136597158G>A	ENST00000531224.1	-	5	1757	c.1505C>T	c.(1504-1506)tCt>tTt	p.S502F	BCLAF1_ENST00000392348.2_Missense_Mutation_p.S500F|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S500F|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S500F|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S502F	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	502					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.S502F(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GAGCTTTTCAGACTTTACCTG	0.408000													37	247					0	0	0.003755	0	0
SLC14A2	8170	broad.mit.edu	37	18	43204687	43204687	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr18:43204687C>G	ENST00000255226.6	+	2	874	c.58C>G	c.(58-60)Ctc>Gtc	p.L20V	SLC14A2_ENST00000586448.1_Missense_Mutation_p.L20V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	20						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.L20V(1)		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						CAGATACAAACTCTACGAGGC	0.562000													28	18					0	0	0.006320	0	0
RHOT1	55288	broad.mit.edu	37	17	30551723	30551723	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:30551723A>G	ENST00000358365.3	+	21	2274	c.2047A>G	c.(2047-2049)Atg>Gtg	p.M683V	RHOT1_ENST00000394692.2_Missense_Mutation_p.M642V|RHOT1_ENST00000545287.2_Missense_Mutation_p.M651V|RHOT1_ENST00000583994.1_Missense_Mutation_p.M515V|RHOT1_ENST00000354266.3_Missense_Mutation_p.M589V|RHOT1_ENST00000333942.6_Missense_Mutation_p.M610V	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	610					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	p.M683V(1)		NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GGGCTTTGCTATGTACAAAGC	0.393000													22	65					0	0	0.012319	0	0
RRAGB	10325	broad.mit.edu	37	X	55777611	55777611	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:55777611G>T	ENST00000374941.4	+	6	1183	c.594G>T	c.(592-594)tgG>tgT	p.W198C	RRAGB_ENST00000474757.1_3'UTR|RRAGB_ENST00000262850.7_Missense_Mutation_p.W226C	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	226					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding	p.W226C(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						CATCTATCTGGGATGAAACCC	0.363000													31	16					2.49534e-26	4.48605e-26	0.010818	1	0
C20orf112	140688	broad.mit.edu	37	20	31041420	31041420	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:31041420C>A	ENST00000359676.5	-	4	674	c.532G>T	c.(532-534)Gac>Tac	p.D178Y	C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN	chromosome 20 open reading frame 112	178								p.D178Y(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CCTTCAGAGTCGTTCATCttg	0.627000													4	27					0.00909568	0.00985762	0.009096	1	0
TTN	7273	broad.mit.edu	37	2	179554016	179554016	+	Splice_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:179554016C>A	ENST00000589042.1	-	124	32236		c.e124+1		TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|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.?(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)			AGAAACAATACCTTTTGGTGG	0.393000													14	60					2.23348e-06	2.79958e-06	0.004007	1	0
EN2	2020	broad.mit.edu	37	7	155255288	155255288	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:155255288C>T	ENST00000297375.4	+	2	1157	c.908C>T	c.(907-909)aCg>aTg	p.T303M		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	303						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T303M(1)		central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGAAGGCCACGGGCAACAAG	0.612000													4	38					0	0	0.009096	0	0
PTP4A1	7803	broad.mit.edu	37	6	64286797	64286797	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:64286797G>A	ENST00000370651.3	+	2	1165	c.12G>A	c.(10-12)atG>atA	p.M4I	PTP4A1_ENST00000370650.2_Missense_Mutation_p.M4I	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	4					cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity	p.M4I(1)		large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			TGGCTCGAATGAACCGCCCAG	0.328000													10	60					0	0	0.006214	0	0
FIGNL1	63979	broad.mit.edu	37	7	50514648	50514648	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:50514648C>A	ENST00000419119.1	-	2	1891	c.338G>T	c.(337-339)aGt>aTt	p.S113I	FIGNL1_ENST00000395556.2_Missense_Mutation_p.S113I|FIGNL1_ENST00000435566.1_3'UTR|FIGNL1_ENST00000433017.1_Missense_Mutation_p.S113I|FIGNL1_ENST00000356889.4_Missense_Mutation_p.S113I			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	113					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	p.S113I(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CTGTACACTACTCATTTTGAA	0.373000													27	56					2.79863e-10	4.0111e-10	0.004656	1	0
PPP2CB	5516	broad.mit.edu	37	8	30657089	30657089	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:30657089C>G	ENST00000221138.4	-	2	735	c.285G>C	c.(283-285)gaG>gaC	p.E95D	PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	95					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding	p.E95D(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	GAGTCACAGTCTCCACTGAAT	0.333000													19	83					0	0	0.007413	0	0
ATRX	546	broad.mit.edu	37	X	76875947	76875947	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:76875947C>T	ENST00000373344.5	-	20	5402	c.5188G>A	c.(5188-5190)Gct>Act	p.A1730T	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.A1692T	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1730	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.A1730T(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAGAAACAGCAGATGCTTCA	0.299000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						9	39					0	0	0.004482	0	0
UNC79	57578	broad.mit.edu	37	14	94103593	94103593	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:94103593C>A	ENST00000553484.1	+	34	6085	c.5931C>A	c.(5929-5931)aaC>aaA	p.N1977K	UNC79_ENST00000256339.4_Missense_Mutation_p.N1778K|UNC79_ENST00000393151.2_Missense_Mutation_p.N1955K|UNC79_ENST00000555664.1_Missense_Mutation_p.N1916K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1955						integral to membrane		p.N1977K(1)|p.N1778K(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						gccagtgtaacgtgccaacgt	0.468000													8	35					5.18039e-06	6.40477e-06	0.003080	1	0
GPD1L	23171	broad.mit.edu	37	3	32201069	32201069	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:32201069G>C	ENST00000282541.5	+	7	1063	c.862G>C	c.(862-864)Gag>Cag	p.E288Q		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	288					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity	p.E288Q(1)		large_intestine(4)|lung(7)|ovary(1)	12						GACCATTGAAGAGTTGGAGAA	0.343000													6	70					0	0	0.001168	0	0
SNX12	29934	broad.mit.edu	37	X	70280928	70280928	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:70280928G>A	ENST00000374274.3	-	4	543	c.427C>T	c.(427-429)Cac>Tac	p.H143Y	SNX12_ENST00000465030.1_5'UTR|SNX12_ENST00000276105.3_Missense_Mutation_p.H139Y	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	143	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding	p.H143Y(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					AGGAACATGTGTAGGCAGCGT	0.517000													3	19					0	0	0.004672	0	0
ATRNL1	26033	broad.mit.edu	37	10	116930951	116930951	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:116930951C>T	ENST00000355044.3	+	8	1375	c.1249C>T	c.(1249-1251)Cat>Tat	p.H417Y	ATRNL1_ENST00000527407.1_Silent_p.H387H|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	417						integral to membrane	sugar binding	p.H417Y(1)		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)		ACATTCAGCACATATTATGGA	0.368000													19	124					0	0	0.007413	0	0
MED12L	116931	broad.mit.edu	37	3	151078344	151078344	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:151078344C>A	ENST00000474524.1	+	19	2841	c.2803C>A	c.(2803-2805)Ctc>Atc	p.L935I	MED12L_ENST00000273432.4_Missense_Mutation_p.L795I|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	935					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.L935I(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTCTATGATCTCTATGTGTC	0.423000													75	116					2.23399e-28	4.06155e-28	0.003610	1	0
TMC3	342125	broad.mit.edu	37	15	81630234	81630234	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:81630234G>C	ENST00000558726.1	-	19	2251	c.2116C>G	c.(2116-2118)Cgg>Ggg	p.R706G	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.R705G|RP11-761I4.3_ENST00000560973.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	705						integral to membrane		p.R705G(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTTAGAGACCGTGCGATGCTC	0.438000													26	32					0	0	0.005443	0	0
FGD5	152273	broad.mit.edu	37	3	14939048	14939048	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:14939048T>A	ENST00000285046.5	+	5	2891	c.2781T>A	c.(2779-2781)gaT>gaA	p.D927E	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.D686E	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	927	DH.				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.D927E(1)|p.D686E(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGGCCTTGGATGACATGGACC	0.542000													4	6					0	0	0.009096	0	0
ELAVL3	1995	broad.mit.edu	37	19	11565622	11565622	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:11565622G>A	ENST00000359227.3	-	7	1247	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L	ELAVL3_ENST00000438662.2_Silent_p.L268L	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	275					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	p.L275L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						ccccccgACAGGCCCACGCCC	0.682000													41	62					0	0	0.007835	0	0
OR5B3	441608	broad.mit.edu	37	11	58170623	58170623	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:58170623T>G	ENST00000309403.2	-	1	259	c.260A>C	c.(259-261)gAc>gCc	p.D87A		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D87A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GATGACCTTGTCTTCTATAAG	0.433000													3	97					0	0	0.000602	0	0
CITED2	10370	broad.mit.edu	37	6	139694840	139694840	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:139694840C>A	ENST00000367651.2	-	2	457	c.242G>T	c.(241-243)gGg>gTg	p.G81V	CITED2_ENST00000537332.1_Missense_Mutation_p.G81V|CITED2_ENST00000536159.1_Missense_Mutation_p.G81V	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	81					adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.G81V(1)		large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CGGGGGGTGCCCTCCGTTCAC	0.677000													7	21					0.00198382	0.0022061	0.001984	1	0
OR6V1	346517	broad.mit.edu	37	7	142749623	142749623	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:142749623C>A	ENST00000418316.1	+	1	207	c.186C>A	c.(184-186)ggC>ggA	p.G62G		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G62G(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCTTCCTGGGCAATTTTTCCC	0.488000													29	265					2.12542e-12	3.20471e-12	0.006320	1	0
GPR123	84435	broad.mit.edu	37	10	134896297	134896297	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:134896297G>C	ENST00000607359.1	+	7	1309	c.1309G>C	c.(1309-1311)Gtg>Ctg	p.V437L				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V437M(1)|p.V437L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCCTGGATGCGTGTGCCAGGG	0.672000													6	7					0	0	0.001168	0	0
PCSK6	5046	broad.mit.edu	37	15	101972301	101972301	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:101972301T>C	ENST00000348070.1	-	4	403	c.404A>G	c.(403-405)aAa>aGa	p.K135R	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Missense_Mutation_p.K135R|PCSK6_ENST00000358417.3_Missense_Mutation_p.K135R|PCSK6_ENST00000398181.2_Missense_Mutation_p.K135R	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	136					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.K135R(3)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGGAGCCATTTCACCTACCA	0.453000													3	22					0	0	0.004672	0	0
OR12D2	26529	broad.mit.edu	37	6	29364671	29364671	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:29364671C>A	ENST00000383555.2	+	1	256	c.195C>A	c.(193-195)tcC>tcA	p.S65S	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S65S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GAAACCTGTCCTACCTGGATA	0.448000													28	89					1.55811e-20	2.67818e-20	0.008361	1	0
SON	6651	broad.mit.edu	37	21	34923100	34923100	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr21:34923100G>T	ENST00000356577.4	+	3	2038	c.1563G>T	c.(1561-1563)acG>acT	p.T521T	SON_ENST00000300278.4_Silent_p.T521T|SON_ENST00000381679.4_Silent_p.T521T|SON_ENST00000290239.6_Silent_p.T521T|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	521					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.T521T(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GGATGACAACGGTGGAACATC	0.582000													34	76					5.91797e-21	1.02573e-20	0.012213	1	0
ROBO1	6091	broad.mit.edu	37	3	78666912	78666912	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:78666912G>A	ENST00000436010.2	-	25	5035	c.4038C>T	c.(4036-4038)agC>agT	p.S1346S	ROBO1_ENST00000464233.1_Silent_p.S1385S|ROBO1_ENST00000467549.1_Silent_p.S1285S|ROBO1_ENST00000495273.1_Silent_p.S1340S			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1385					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.S1362S(1)|p.S1340S(1)|p.S1385S(1)|p.S1389S(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGGAGCGTCCGCTGGAAATGT	0.577000													6	41					0	0	0.001168	0	0
CSMD3	114788	broad.mit.edu	37	8	113364743	113364743	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:113364743G>A	ENST00000297405.5	-	39	6401	c.6157C>T	c.(6157-6159)Cct>Tct	p.P2053S	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2013S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1983S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1949S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2053	Sushi 11.					integral to membrane|plasma membrane		p.P2053S(1)|p.P2013S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGGTTCAGGACAGGAATCC	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	103					0	0	0.008871	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085939	42085939	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:42085939G>A	ENST00000407170.2	+	4	1087	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	CEACAM21_ENST00000187608.9_Missense_Mutation_p.V220I|CEACAM21_ENST00000401445.2_Missense_Mutation_p.V220I|CEACAM21_ENST00000482870.2_3'UTR			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	220						integral to membrane		p.V220I(2)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CTCCAACCCAGTCAGCTCCAA	0.542000													9	7					0	0	0.004482	0	0
IPO7	10527	broad.mit.edu	37	11	9466700	9466700	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:9466700A>T	ENST00000379719.3	+	25	3218	c.3076A>T	c.(3076-3078)Agt>Tgt	p.S1026C		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	1026					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	p.S1026C(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGTTGTGCCAAGTTCTTTCAA	0.398000													9	63					0	0	0.006214	0	0
STAT5A	6776	broad.mit.edu	37	17	40459420	40459420	+	Splice_Site	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:40459420G>T	ENST00000345506.4	+	15	2323	c.1680_splice	c.e15-1	p.E561_splice	STAT5A_ENST00000588868.1_Splice_Site_p.E530_splice|STAT5A_ENST00000587646.1_Splice_Site_p.E49_splice|STAT5A_ENST00000590949.1_Splice_Site_p.E561_splice|STAT5A_ENST00000546010.2_Splice_Site_p.E531_splice|STAT5A_ENST00000452307.2_Splice_Site_p.E561_splice	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	561					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.E561*(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GGGCCCTCAGGAGAACTTGCC	0.617000													10	9					2.17888e-05	2.6071e-05	0.006214	1	0
GLRA2	2742	broad.mit.edu	37	X	14599449	14599449	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:14599449G>A	ENST00000218075.4	+	4	945	c.415G>A	c.(415-417)Ggt>Agt	p.G139S	GLRA2_ENST00000355020.4_Missense_Mutation_p.G139S|GLRA2_ENST00000443437.2_Missense_Mutation_p.G50S	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	139					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.G139S(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CAATGAGAAGGGTGCCAACTT	0.488000													48	67					0	0	0.003610	0	0
OLFM3	118427	broad.mit.edu	37	1	102270165	102270165	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:102270165G>T	ENST00000370103.4	-	6	1219	c.1006C>A	c.(1006-1008)Ctg>Atg	p.L336M	OLFM3_ENST00000338858.5_Missense_Mutation_p.L356M|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	356	Olfactomedin-like.					extracellular region		p.L336M(1)|p.L356M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		ACAGCCCACAGCCCGATTTCA	0.483000													20	60					2.94398e-08	3.94984e-08	0.007413	1	0
SPP2	6694	broad.mit.edu	37	2	234975910	234975910	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:234975910G>A	ENST00000168148.3	+	6	630	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	SPP2_ENST00000373368.1_Missense_Mutation_p.R181Q	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	181					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	p.R181Q(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		TTTTATGATCGGTCACTTGGT	0.398000													44	84					0	0	0.011902	0	0
PAPPA	5069	broad.mit.edu	37	9	118997687	118997687	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:118997687T>A	ENST00000328252.3	+	7	2872	c.2503T>A	c.(2503-2505)Tgt>Agt	p.C835S	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	835					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.C835S(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GAATGTCTTCTGTGATGTCCC	0.527000													13	22					0	0	0.001368	0	0
HBG2	3048	broad.mit.edu	37	11	5274610	5274610	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:5274610A>T	ENST00000380259.2	-	8	1581	c.341T>A	c.(340-342)gTt>gAt	p.V114D	HBG2_ENST00000380252.1_Missense_Mutation_p.V104D|HBG2_ENST00000336906.4_Missense_Mutation_p.V114D					hemoglobin, gamma G									p.V114D(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTGCCAAAACGGTCACCAG	0.522000													21	41					0	0	0.002836	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18747456	18747456	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:18747456C>A	ENST00000433979.1	+	29	4033	c.3917C>A	c.(3916-3918)tCt>tAt	p.S1306Y	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.S1306Y|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S1347Y	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1306	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.S1306Y(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTTTTCCTCTCTGAGGCTGTG	0.289000													14	34					9.16793e-09	1.24735e-08	0.004990	1	0
ENOX1	55068	broad.mit.edu	37	13	43918814	43918814	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:43918814G>T	ENST00000261488.6	-	9	1473	c.896C>A	c.(895-897)tCt>tAt	p.S299Y	ENOX1_ENST00000540032.1_Missense_Mutation_p.S112Y|ENOX1_ENST00000412891.1_Missense_Mutation_p.S299Y	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	299					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.S299Y(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CTGGTTTGCAGAGCGCCGATT	0.498000													23	90					3.5997e-14	5.63888e-14	0.002299	1	0
BMP10	27302	broad.mit.edu	37	2	69093488	69093488	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:69093488G>T	ENST00000295379.1	-	2	708	c.550C>A	c.(550-552)Ctg>Atg	p.L184M		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	184					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	p.L184M(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						ACCAAGACCAGCATGTTTCTT	0.463000													22	50					1.28384e-07	1.67744e-07	0.012319	1	0
CPNE1	8904	broad.mit.edu	37	20	34220814	34220814	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:34220814G>C	ENST00000317619.3	-	4	426	c.32C>G	c.(31-33)tCc>tGc	p.S11C	CPNE1_ENST00000397443.1_Missense_Mutation_p.S11C|CPNE1_ENST00000397445.1_Missense_Mutation_p.S11C|CPNE1_ENST00000352393.4_Missense_Mutation_p.S11C|CPNE1_ENST00000397442.1_Missense_Mutation_p.S11C|CPNE1_ENST00000317677.5_Missense_Mutation_p.S16C|CPNE1_ENST00000397446.1_Missense_Mutation_p.S11C			Q99829	CPNE1_HUMAN	copine I	11	C2 1.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	p.S11C(1)		breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ACAGGAAATGGACAGCTGAAC	0.587000													7	75					0	0	0.001984	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813843	106813843	+	Silent	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:106813843T>C	ENST00000407775.2	+	8	1783	c.1533T>C	c.(1531-1533)ccT>ccC	p.P511P	ZFPM2_ENST00000517361.1_Silent_p.P379P|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.P242P|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Silent_p.P379P|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	511					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.P511P(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCATGGTCCCTCAAGCTTCAG	0.502000													26	211					0	0	0.006320	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145830920	145830920	+	Splice_Site	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:145830920C>T	ENST00000276826.5	-	1	281	c.80_splice	c.e1+1	p.R27_splice	ARHGAP39_ENST00000540274.1_Splice_Site_p.R27_splice|ARHGAP39_ENST00000377307.2_Splice_Site_p.R27_splice			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	27	WW 1.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	p.R27Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGCTCCTTACCGAGTGTTCGA	0.602000													38	31					0	0	0.007835	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186862165	186862165	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:186862165G>T	ENST00000367466.3	+	4	290	c.138G>T	c.(136-138)gtG>gtT	p.V46V	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Silent_p.V46V	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	46	C2.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	p.V46V(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	ATCCCTATGTGGAACTTTTTA	0.338000													14	85					7.93312e-07	1.011e-06	0.002450	1	0
OCA2	4948	broad.mit.edu	37	15	28000606	28000606	+	Silent	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:28000606T>A	ENST00000354638.3	-	24	2600	c.2445A>T	c.(2443-2445)ccA>ccT	p.P815P	OCA2_ENST00000353809.5_Silent_p.P791P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	815					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.P815P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CAACCATCATTGGGAAGCCCA	0.438000									Oculocutaneous Albinism				13	41					0	0	0.001368	0	0
RYR2	6262	broad.mit.edu	37	1	237947932	237947932	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:237947932G>T	ENST00000366574.2	+	90	13237	c.12920G>T	c.(12919-12921)cGc>cTc	p.R4307L	RYR2_ENST00000360064.6_Missense_Mutation_p.R4313L|RYR2_ENST00000542537.1_Missense_Mutation_p.R4291L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4307					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.R4305L(1)		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)			GGCTTTTTCCGCATCATTTGC	0.502000													31	49					2.65835e-16	4.2847e-16	0.007291	1	0
KIAA1109	84162	broad.mit.edu	37	4	123264729	123264729	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:123264729G>T	ENST00000264501.4	+	73	12890	c.12517G>T	c.(12517-12519)Gct>Tct	p.A4173S	KIAA1109_ENST00000388738.3_Missense_Mutation_p.A4173S			Q2LD37	K1109_HUMAN	KIAA1109	4173					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.A4173S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACAAAAAACTGCTGTTTCTGG	0.403000													28	33					9.78306e-22	1.70997e-21	0.009535	1	0
ATL1	51062	broad.mit.edu	37	14	51080040	51080040	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:51080040G>C	ENST00000441560.2	+	8	1175	c.694G>C	c.(694-696)Ggt>Cgt	p.G232R	ATL1_ENST00000358385.6_Missense_Mutation_p.G232R|ATL1_ENST00000354525.4_Missense_Mutation_p.G232R|ATL1_ENST00000357032.3_Missense_Mutation_p.G232R	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	232					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	p.G232R(1)		central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AGCCGATGGTGGTGCCAAATT	0.348000													9	86					0	0	0.004482	0	0
CPB2	1361	broad.mit.edu	37	13	46658366	46658366	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:46658366C>T	ENST00000181383.4	-	3	279	c.263G>A	c.(262-264)gGa>gAa	p.G88E	CPB2_ENST00000439329.3_Missense_Mutation_p.G88E|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	88					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.G88E(1)		NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GCATGGAATTCCGCTCACATT	0.383000													16	107					0	0	0.004990	0	0
OR5D18	219438	broad.mit.edu	37	11	55587576	55587576	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:55587576C>T	ENST00000333976.4	+	1	491	c.471C>T	c.(469-471)tcC>tcT	p.S157S		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S157S(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCTCATGTTCCTTGGAACTGA	0.468000													32	119					0	0	0.009535	0	0
DOCK11	139818	broad.mit.edu	37	X	117712558	117712558	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:117712558G>C	ENST00000276204.6	+	13	1534	c.1460G>C	c.(1459-1461)gGa>gCa	p.G487A	DOCK11_ENST00000276202.7_Missense_Mutation_p.G487A|DOCK11_ENST00000498252.1_3'UTR			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	487					blood coagulation	cytosol	GTP binding	p.G487A(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GTACTACAGGGAAACATTACA	0.353000													13	79					0	0	0.001368	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822102	43822102	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:43822102T>C	ENST00000389420.3	-	26	3886	c.3887A>G	c.(3886-3888)aAt>aGt	p.N1296S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N1296S|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.N414S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1296						proteinaceous extracellular matrix	zinc ion binding	p.N1296S(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GACCACCTGATTTTCATTATC	0.423000													28	87					0	0	0.009535	0	0
GABRQ	55879	broad.mit.edu	37	X	151820151	151820151	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:151820151G>T	ENST00000370306.2	+	8	1084	c.1064G>T	c.(1063-1065)aGt>aTt	p.S355I		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	355						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.S355I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTTCTACAGTCGAGGACCT	0.502000													17	124					4.7546e-09	6.55511e-09	0.004007	1	0
DAPK1	1612	broad.mit.edu	37	9	90263694	90263694	+	Splice_Site	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:90263694A>T	ENST00000469640.2	+	15	1704		c.e15-1		DAPK1_ENST00000491893.1_Splice_Site|DAPK1_ENST00000472284.1_Splice_Site|DAPK1_ENST00000408954.3_Splice_Site|DAPK1_ENST00000358077.5_Splice_Site			P53355	DAPK1_HUMAN	death-associated protein kinase 1						apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	p.?(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TTTCTTCTGCAGTCTGGAGAG	0.567000									Chronic Lymphocytic Leukemia, Familial Clustering of				17	60					0	0	0.004007	0	0
SERPINA5	5104	broad.mit.edu	37	14	95058540	95058540	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:95058540C>A	ENST00000329597.7	+	6	1395	c.1185C>A	c.(1183-1185)aaC>aaA	p.N395K	SERPINA5_ENST00000554276.1_Missense_Mutation_p.N395K|SERPINA3_ENST00000553947.1_Intron|SERPINA5_ENST00000553780.1_Missense_Mutation_p.N395K|SERPINA5_ENST00000554866.1_Missense_Mutation_p.N395K	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	395					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.N395K(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TTGTGGATAACAACATCCTCT	0.552000													102	252					1.3157e-30	2.41936e-30	0.003610	1	0
GRM3	2913	broad.mit.edu	37	7	86394889	86394889	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:86394889C>A	ENST00000361669.2	+	2	1527	c.428C>A	c.(427-429)gCa>gAa	p.A143E	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.A141E|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.A143E	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	143					synaptic transmission	integral to plasma membrane		p.A143E(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CTTCTCATTGCAGGGGTCATT	0.433000													12	39					3.07112e-06	3.83294e-06	0.010729	1	0
CDH10	1008	broad.mit.edu	37	5	24593590	24593590	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:24593590G>T	ENST00000264463.4	-	2	517	c.10C>A	c.(10-12)Cat>Aat	p.H4N	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	4					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAAAATTGATGTATTGTCATA	0.398000										HNSCC(23;0.051)			18	39					1.33834e-09	1.87548e-09	0.007413	1	0
ELAVL2	1993	broad.mit.edu	37	9	23692662	23692662	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:23692662T>A	ENST00000397312.2	-	7	1247	c.973A>T	c.(973-975)Aca>Tca	p.T325S	ELAVL2_ENST00000380117.1_Missense_Mutation_p.T325S|ELAVL2_ENST00000223951.6_Missense_Mutation_p.T312S|ELAVL2_ENST00000380110.4_Missense_Mutation_p.T355S|ELAVL2_ENST00000544538.1_Missense_Mutation_p.T325S	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	325	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.T325S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TCATAGTTTGTCATAGTCACA	0.453000													20	61					0	0	0.008871	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994911	140994911	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:140994911C>A	ENST00000285879.4	+	4	2007	c.1721C>A	c.(1720-1722)tCc>tAc	p.S574Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	574							protein binding	p.S574Y(1)		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)					GGGGAGGACTCCCTGTCTCCT	0.592000										HNSCC(15;0.026)			81	371					2.65773e-34	4.9691e-34	0.003610	1	0
KCNA4	3739	broad.mit.edu	37	11	30033321	30033321	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:30033321C>A	ENST00000328224.6	-	2	2138	c.905G>T	c.(904-906)aGc>aTc	p.S302I		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	302						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.S302I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AGGACTGGAGCTCTCTGGATA	0.498000													21	33					1.50039e-11	2.21843e-11	0.012319	1	0
UBR4	23352	broad.mit.edu	37	1	19518771	19518771	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:19518771C>G	ENST00000375267.2	-	11	1308	c.1305G>C	c.(1303-1305)gaG>gaC	p.E435D	UBR4_ENST00000375254.3_Missense_Mutation_p.E435D|UBR4_ENST00000375217.2_Missense_Mutation_p.E435D|UBR4_ENST00000375226.2_Missense_Mutation_p.E435D			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	435					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.E435D(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTGGGTCCTTCTCTTTCCCCT	0.502000													8	102					0	0	0.003080	0	0
OR6N1	128372	broad.mit.edu	37	1	158735965	158735965	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:158735965C>A	ENST00000335094.2	-	1	527	c.508G>T	c.(508-510)Ggc>Tgc	p.G170C		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G170C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CGATTGGGGCCACAGAATGGG	0.473000													18	62					3.41278e-10	4.86725e-10	0.004990	1	0
CDHR3	222256	broad.mit.edu	37	7	105664968	105664968	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:105664968A>G	ENST00000542731.1	+	15	2326	c.2218A>G	c.(2218-2220)Aga>Gga	p.R740G	CDHR3_ENST00000343407.5_Missense_Mutation_p.Q242R|CDHR3_ENST00000317716.9_Missense_Mutation_p.R740G|CDHR3_ENST00000478080.1_Missense_Mutation_p.R652G|CDHR3_ENST00000470188.1_3'UTR			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	740					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R740G(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGCCATCCACAGACACTGCCC	0.542000													4	40					0	0	0.000602	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750336	140750336	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:140750336T>A	ENST00000576222.1	+	1	506	c.375T>A	c.(373-375)gaT>gaA	p.D125E	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCCAGGATATTAACGACA	0.453000													65	70					0	0	0.003610	0	0
OR51F2	119694	broad.mit.edu	37	11	4843196	4843196	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:4843196A>G	ENST00000322110.5	+	1	646	c.581A>G	c.(580-582)tAc>tGc	p.Y194C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y194C(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTACTGCTACCATGTTGAT	0.458000													29	165					0	0	0.005443	0	0
NRXN3	9369	broad.mit.edu	37	14	79175831	79175831	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:79175831G>A	ENST00000554719.1	+	4	865	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	NRXN3_ENST00000335750.5_Missense_Mutation_p.R125Q|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane		p.R125Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAGGATGCTCGGAGCCAGAAG	0.507000													11	80					0	0	0.010729	0	0
GXYLT1	283464	broad.mit.edu	37	12	42499724	42499724	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:42499724C>T	ENST00000398675.3	-	5	992	c.760G>A	c.(760-762)Gga>Aga	p.G254R	GXYLT1_ENST00000280876.6_Missense_Mutation_p.G223R	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	254					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	p.G254I(1)|p.G223I(1)		kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TTATACCATCCTATTCGAGGT	0.368000													42	35					0	0	0.009718	0	0
DGKH	160851	broad.mit.edu	37	13	42769083	42769083	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:42769083G>C	ENST00000379274.2	+	17	2119	c.1690G>C	c.(1690-1692)Gtc>Ctc	p.V564L	DGKH_ENST00000261491.4_Missense_Mutation_p.V700L|DGKH_ENST00000536612.1_Missense_Mutation_p.V564L|DGKH_ENST00000540693.1_Missense_Mutation_p.V700L|DGKH_ENST00000538674.1_Missense_Mutation_p.V455L|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Missense_Mutation_p.V700L			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	700					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.V700L(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AACTGATTCTGTCCCTGGTCC	0.453000													23	55					0	0	0.012319	0	0
CAPN11	11131	broad.mit.edu	37	6	44145116	44145116	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:44145116C>A	ENST00000398776.1	+	12	1413	c.1375C>A	c.(1375-1377)Cag>Aag	p.Q459K	CAPN11_ENST00000542245.1_Missense_Mutation_p.Q459K	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	459	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.Q459K(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCACGGCAGCAGGGAGCCCA	0.622000													5	30					4.096e-09	5.6741e-09	0.001168	1	0
APOB	338	broad.mit.edu	37	2	21225048	21225048	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:21225048C>G	ENST00000233242.1	-	29	13373	c.13246G>C	c.(13246-13248)Gtt>Ctt	p.V4416L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4416					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.V4416L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTAAGAGCAACTAACAGGTTC	0.373000													12	54					0	0	0.010729	0	0
RNF213	57674	broad.mit.edu	37	17	78327389	78327389	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:78327389G>C	ENST00000582970.1	+	34	10644	c.10501G>C	c.(10501-10503)Gag>Cag	p.E3501Q	RNF213_ENST00000336301.6_Missense_Mutation_p.E1574Q|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.E3550Q	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.E1574Q(1)|p.E3550Q(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGAGGTGGCAGAGGTGGCAGA	0.567000													5	51					0	0	0.000602	0	0
OR10G9	219870	broad.mit.edu	37	11	123894254	123894254	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:123894254G>A	ENST00000375024.1	+	1	535	c.535G>A	c.(535-537)Gat>Aat	p.D179N		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D179N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTATTTGTGTGATGCACCGCC	0.542000													22	148					0	0	0.006320	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471471	146471471	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:146471471G>A	ENST00000361727.3	+	2	722	c.206G>A	c.(205-207)gGa>gAa	p.G69E		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	69	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.G69E(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AACAAGAGAGGAGGTAAGCCA	0.393000										HNSCC(39;0.1)			11	26					0	0	0.010729	0	0
LIPC	3990	broad.mit.edu	37	15	58855785	58855785	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:58855785G>C	ENST00000414170.3	+	9	1538	c.1251G>C	c.(1249-1251)aaG>aaC	p.K417N	LIPC_ENST00000356113.6_Missense_Mutation_p.K417N|LIPC_ENST00000299022.5_Missense_Mutation_p.K417N|LIPC_ENST00000433326.2_Missense_Mutation_p.K356N			P11150	LIPC_HUMAN	lipase, hepatic	417	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	p.K417N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TCATGATCAAGTTCAAGTGGG	0.493000													30	25					0	0	0.009535	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20068141	20068141	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:20068141C>T	ENST00000276390.2	+	5	487	c.447C>T	c.(445-447)gaC>gaT	p.D149D		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	149					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.D149D(1)		endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		TGGCCGAAGACTTCCTTGATA	0.438000													4	117					0	0	0.000602	0	0
UBE2K	3093	broad.mit.edu	37	4	39780016	39780016	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:39780016G>A	ENST00000261427.5	+	7	849	c.565G>A	c.(565-567)Gat>Aat	p.D189N	UBE2K_ENST00000445950.2_Missense_Mutation_p.D146N|UBE2K_ENST00000503368.1_Missense_Mutation_p.D138N|UBE2K_ENST00000295963.6_Missense_Mutation_p.D128N|UBE2K_ENST00000438068.2_3'UTR	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	189	UBA.				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity	p.D189N(1)		large_intestine(1)|lung(1)|ovary(2)	4						AAAATCATGGGATGTAGAGAC	0.398000													17	28					0	0	0.007413	0	0
RPL10	6134	broad.mit.edu	37	X	153628874	153628874	+	Silent	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:153628874A>G	ENST00000424325.2	+	6	587	c.399A>G	c.(397-399)caA>caG	p.Q133Q	RPL10_ENST00000369817.2_Silent_p.Q133Q|RPL10_ENST00000406022.2_Silent_p.Q82Q	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	133					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	p.Q133Q(1)		large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACATTGGCCAAGTTATCATGT	0.547000													7	113					0	0	0.001984	0	0
UNC5A	90249	broad.mit.edu	37	5	176301474	176301474	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:176301474C>G	ENST00000329542.4	+	8	1559	c.1285C>G	c.(1285-1287)Cag>Gag	p.Q429E	UNC5A_ENST00000261961.3_Missense_Mutation_p.Q389E	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	429					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		p.Q429E(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCTCCACCCAGAACTACTT	0.632000													54	35					0	0	0.003610	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187703818	187703818	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:187703818G>T	ENST00000295131.2	-	4	401	c.362C>A	c.(361-363)cCa>cAa	p.P121Q		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	121					apoptosis		zinc ion binding	p.P121Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATTTGTTCCTGGTTGGGGAGT	0.403000													93	200					3.04226e-33	5.66611e-33	0.003610	1	0
MID1	4281	broad.mit.edu	37	X	10535287	10535287	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:10535287G>T	ENST00000317552.4	-	2	701	c.301C>A	c.(301-303)Cgt>Agt	p.R101S	MID1_ENST00000453318.2_Missense_Mutation_p.R101S|MID1_ENST00000380779.1_Missense_Mutation_p.R101S|MID1_ENST00000380780.1_Missense_Mutation_p.R101S|MID1_ENST00000380785.1_Missense_Mutation_p.R101S|MID1_ENST00000380787.1_Missense_Mutation_p.R101S|MID1_ENST00000380782.2_Missense_Mutation_p.R101S	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	101					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	p.R101S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CGCTCCCGACGGGTCTCGCTG	0.607000													17	96					2.48551e-13	3.82325e-13	0.004990	1	0
RC3H2	54542	broad.mit.edu	37	9	125642884	125642884	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:125642884T>C	ENST00000373670.1	-	5	1549	c.949A>G	c.(949-951)Atc>Gtc	p.I317V	RC3H2_ENST00000335387.5_Missense_Mutation_p.I317V|RC3H2_ENST00000357244.2_Missense_Mutation_p.I317V|RC3H2_ENST00000423239.2_Missense_Mutation_p.I317V|RC3H2_ENST00000373665.2_Missense_Mutation_p.I317V			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	317						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	p.I317V(2)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTATCAATGATAGACTGCATG	0.358000													9	45					0	0	0.004482	0	0
SPATA18	132671	broad.mit.edu	37	4	52944956	52944956	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:52944956A>T	ENST00000295213.4	+	8	1450	c.1076A>T	c.(1075-1077)aAa>aTa	p.K359I	SPATA18_ENST00000419395.2_Missense_Mutation_p.K327I	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	359					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.K359I(2)		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)			CATGTGAGAAAATCGTTGACA	0.388000													6	119					0	0	0.001984	0	0
PLG	5340	broad.mit.edu	37	6	161160234	161160234	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:161160234T>A	ENST00000308192.9	+	16	2075	c.2012T>A	c.(2011-2013)cTa>cAa	p.L671Q		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	671	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.L671Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTGCTAAAGCTAAGCAGGTAC	0.498000													5	89					0	0	0.000602	0	0
NTM	50863	broad.mit.edu	37	11	132204969	132204969	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:132204969G>T	ENST00000374786.1	+	7	1443	c.964G>T	c.(964-966)Ggc>Tgc	p.G322C	NTM_ENST00000425719.2_Missense_Mutation_p.G333C|NTM_ENST00000539799.1_Missense_Mutation_p.G333C|NTM_ENST00000427481.2_Missense_Mutation_p.G324C|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Missense_Mutation_p.G322C	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	322					cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.G322C(4)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GGTGAGCAACGGCACGTCGAG	0.602000													16	78					1.3612e-06	1.72411e-06	0.003163	1	0
UNC79	57578	broad.mit.edu	37	14	94160683	94160683	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:94160683G>T	ENST00000553484.1	+	49	7810	c.7656G>T	c.(7654-7656)atG>atT	p.M2552I	UNC79_ENST00000256339.4_Missense_Mutation_p.M2353I|UNC79_ENST00000393151.2_Missense_Mutation_p.M2530I|UNC79_ENST00000555664.1_Missense_Mutation_p.M2491I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2530						integral to membrane		p.M2353I(1)|p.M2552I(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGTTTCAGATGGTAGAAATGG	0.388000													9	39					3.09899e-07	4.00574e-07	0.004482	1	0
MEF2B	100271849	broad.mit.edu	37	19	19261565	19261565	+	Translation_Start_Site	SNP	G	G	C	rs145308225		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:19261565G>C	ENST00000602424.2	-	0	706				MEF2B_ENST00000162023.5_De_novo_Start_OutOfFrame|MEF2B_ENST00000424583.2_De_novo_Start_OutOfFrame|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2BNB-MEF2B_ENST00000444486.3_De_novo_Start_OutOfFrame|MEF2B_ENST00000410050.1_De_novo_Start_OutOfFrame|MEF2B_ENST00000409224.1_De_novo_Start_OutOfFrame|MEF2B_ENST00000409447.2_De_novo_Start_OutOfFrame|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.H11D	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B									p.?(1)		breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TGAGTGGAATGATCTTTGTCT	0.577000													21	48					0	0	0.010504	0	0
XIAP	331	broad.mit.edu	37	X	123020298	123020298	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:123020298G>T	ENST00000371199.3	+	2	1085	c.786G>T	c.(784-786)atG>atT	p.M262I	XIAP_ENST00000355640.3_Missense_Mutation_p.M262I|XIAP_ENST00000434753.3_Missense_Mutation_p.M262I|XIAP_ENST00000468691.1_Intron	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	262					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	p.M262I(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ATCCATCCATGGCAGATTATG	0.383000									X-linked Lymphoproliferative syndrome				15	105					7.93312e-07	1.011e-06	0.002450	1	0
SPTBN4	57731	broad.mit.edu	37	19	41007852	41007852	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:41007852A>G	ENST00000352632.3	+	8	895	c.809A>G	c.(808-810)gAg>gGg	p.E270G	SPTBN4_ENST00000595535.1_Missense_Mutation_p.E270G|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E270G|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E270G|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E270G			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	270	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.E270G(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCCAGATGAGAAGTCCATC	0.507000													18	150					0	0	0.006122	0	0
PSKH2	85481	broad.mit.edu	37	8	87076237	87076237	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:87076237A>T	ENST00000276616.2	-	2	883	c.809T>A	c.(808-810)cTt>cAt	p.L270H		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	270	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.L270H(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CTTCCTGTAAAGCCTTGTCTG	0.413000													9	59					0	0	0.008291	0	0
GPR98	84059	broad.mit.edu	37	5	89938559	89938559	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:89938559A>G	ENST00000405460.2	+	12	2443	c.2347A>G	c.(2347-2349)Aga>Gga	p.R783G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	783					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.R783G(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCTGCTTCCAGAGGACCCTA	0.378000													68	37					0	0	0.003610	0	0
CAPN6	827	broad.mit.edu	37	X	110497565	110497565	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:110497565G>A	ENST00000324068.1	-	3	399	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	78	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.L78L(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TTGTGCCCCAGTCTCCCTTGG	0.468000													51	67					0	0	0.003610	0	0
NEBL	10529	broad.mit.edu	37	10	21074853	21074853	+	Splice_Site	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:21074853C>T	ENST00000377122.4	-	28	3265		c.e28-1		NEBL_ENST00000417816.2_Splice_Site|NEBL_ENST00000377159.4_Splice_Site	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette						regulation of actin filament length		actin binding|structural constituent of muscle	p.?(2)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGTAGGTCCTCTGAGAAAGGA	0.468000													6	115					0	0	0.003080	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575175	74575175	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:74575175C>A	ENST00000354431.4	-	5	961	c.770G>T	c.(769-771)tGg>tTg	p.W257L	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.W257L|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.W149L|LRRIQ3_ENST00000468759.1_5'UTR	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	257								p.W257L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TATGTAAATCCATTTTGCTTC	0.323000													15	103					4.93089e-13	7.53677e-13	0.002450	1	0
CUZD1	50624	broad.mit.edu	37	10	124595771	124595771	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:124595771C>T	ENST00000368904.1	-	8	1862	c.913G>A	c.(913-915)Gac>Aac	p.D305N	CUZD1_ENST00000545804.1_Missense_Mutation_p.D305N|CUZD1_ENST00000392790.1_Missense_Mutation_p.D305N			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	305	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		p.D305N(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CAAGTTGGGTCTTTTAGTTGC	0.368000													39	30					0	0	0.005524	0	0
ZNF418	147686	broad.mit.edu	37	19	58438039	58438039	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:58438039G>T	ENST00000396147.1	-	4	1801	c.1510C>A	c.(1510-1512)Cac>Aac	p.H504N	ZNF418_ENST00000595830.1_Missense_Mutation_p.H504N|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.H419N|ZNF418_ENST00000425570.3_Missense_Mutation_p.H525N	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H504N(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TCTCCAGTGTGAACTCTCTGA	0.448000													68	71					1.46168e-27	2.64747e-27	0.003610	1	0
MRGPRE	116534	broad.mit.edu	37	11	3249691	3249691	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:3249691G>T	ENST00000389832.5	-	2	645	c.339C>A	c.(337-339)ctC>ctA	p.L113L	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.L112L			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	112						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L112L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGCCGCCAGGAGACTCAGGC	0.682000													13	6					7.93312e-07	1.011e-06	0.002450	1	0
VIL1	7429	broad.mit.edu	37	2	219292998	219292998	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:219292998G>A	ENST00000248444.5	+	6	593	c.505G>A	c.(505-507)Gac>Aac	p.D169N	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Missense_Mutation_p.D169N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	169	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.D169N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTCCTCCTGGACCTTGGGAA	0.557000													13	74					0	0	0.001855	0	0
P4HTM	54681	broad.mit.edu	37	3	49044257	49044257	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:49044257C>A	ENST00000343546.4	+	9	1977	c.1609C>A	c.(1609-1611)Cgc>Agc	p.R537S	P4HTM_ENST00000383729.4_Missense_Mutation_p.R476S	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	476						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.R476S(1)|p.R537S(1)		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)	GGAGATGGCCCGCCTTGCCCG	0.662000													17	42					5.03518e-11	7.34741e-11	0.007413	1	0
PAPPA	5069	broad.mit.edu	37	9	118989776	118989776	+	Silent	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:118989776T>A	ENST00000328252.3	+	6	2547	c.2178T>A	c.(2176-2178)gcT>gcA	p.A726A	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	726					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.A726A(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTTCCAACGCTTCCTCCCCAA	0.537000													38	85					0	0	0.004878	0	0
ZDHHC19	131540	broad.mit.edu	37	3	195936325	195936325	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:195936325G>T	ENST00000296326.3	-	3	409	c.330C>A	c.(328-330)cgC>cgA	p.R110R	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	110						integral to membrane	acyltransferase activity|zinc ion binding	p.R110R(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		ACCATTGCAGGCGGAAGGCCC	0.652000													7	17					8.12818e-05	9.52121e-05	0.001984	1	0
MAGEC2	51438	broad.mit.edu	37	X	141291236	141291236	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:141291236C>A	ENST00000247452.3	-	3	885	c.538G>T	c.(538-540)Gtg>Ttg	p.V180L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	180	MAGE.					cytoplasm|nucleus		p.V180L(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGTATCACAGGAAAGTAA	0.478000										HNSCC(46;0.14)			31	193					3.69857e-22	6.50391e-22	0.008361	1	0
DACT1	51339	broad.mit.edu	37	14	59112833	59112833	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:59112833C>A	ENST00000395153.3	+	4	1528	c.1381C>A	c.(1381-1383)Cag>Aag	p.Q461K	DACT1_ENST00000335867.4_Missense_Mutation_p.Q498K|DACT1_ENST00000395151.3_Missense_Mutation_p.Q217K|DACT1_ENST00000541264.2_Missense_Mutation_p.Q217K|DACT1_ENST00000556859.1_Missense_Mutation_p.Q217K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	498					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.Q498K(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGCCCCGCCGCAGGAGAACAA	0.602000													22	76					1.85244e-09	2.59342e-09	0.003330	1	0
HECW2	57520	broad.mit.edu	37	2	197187323	197187323	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:197187323G>A	ENST00000260983.2	-	7	945	c.763C>T	c.(763-765)Ctt>Ttt	p.L255F	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	255	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.L255F(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ACATCAGTAAGAAGTGCAAAA	0.333000													45	131					0	0	0.013114	0	0
CYBB	1536	broad.mit.edu	37	X	37664301	37664301	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:37664301G>T	ENST00000378588.4	+	10	1261	c.1194G>T	c.(1192-1194)gtG>gtT	p.V398V	CYBB_ENST00000545017.1_Silent_p.V366V|CYBB_ENST00000536160.1_Silent_p.V131V|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	398					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	p.V398V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GTGAAGATGTGTTCAGCTATG	0.493000													20	33					4.96729e-08	6.60937e-08	0.008871	1	0
C2orf53	339779	broad.mit.edu	37	2	27360750	27360750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:27360750C>A	ENST00000335524.3	-	3	973	c.448G>T	c.(448-450)Gag>Tag	p.E150*		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	150	Pro-rich.							p.E150*(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCAGTTCCTCggggtgggaa	0.612000													16	21					1.15088e-07	1.50643e-07	0.004007	1	0
NRK	203447	broad.mit.edu	37	X	105075047	105075047	+	Splice_Site	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:105075047G>T	ENST00000428173.2	+	2	361	c.57_splice	c.e2-1	p.D20_splice	NRK_ENST00000536164.1_Splice_Site_p.D20_splice|NRK_ENST00000243300.9_Splice_Site_p.D20_splice			Q7Z2Y5	NRK_HUMAN	Nik related kinase	20							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.D20N(2)|p.D20Y(2)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTTTTGCAGGATCCAACTGG	0.284000										HNSCC(51;0.14)			37	89					1.60099e-16	2.59199e-16	0.004878	1	0
ITSN1	6453	broad.mit.edu	37	21	35229040	35229040	+	Splice_Site	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr21:35229040G>T	ENST00000381318.3	+	30	3950	c.3661_splice	c.e30-1	p.W1221_splice	ITSN1_ENST00000381285.4_Splice_Site_p.W1221_splice|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Splice_Site_p.W1216_splice|ITSN1_ENST00000437442.2_Splice_Site_p.W1216_splice	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1221					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	p.W1221L(1)		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						TGTTTTCCAGGGTGTTCAGAC	0.498000													16	37					4.75885e-15	7.56093e-15	0.004990	1	0
NUDT5	11164	broad.mit.edu	37	10	12228244	12228244	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:12228244T>C	ENST00000491614.1	-	2	442	c.47A>G	c.(46-48)tAt>tGt	p.Y16C	NUDT5_ENST00000537776.1_Missense_Mutation_p.Y16C|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378927.3_Missense_Mutation_p.Y16C|NUDT5_ENST00000378940.3_Missense_Mutation_p.Y16C|NUDT5_ENST00000378937.3_Missense_Mutation_p.Y16C			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	16					D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding	p.Y16C(1)		breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				TGAAATGATATACTGTTTGCC	0.408000													17	102					0	0	0.007413	0	0
MATK	4145	broad.mit.edu	37	19	3783219	3783219	+	Splice_Site	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:3783219T>C	ENST00000310132.6	-	7	981		c.e7-2		MATK_ENST00000395040.2_Splice_Site|MATK_ENST00000395045.2_Splice_Site|MATK_ENST00000585778.1_Splice_Site	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase						cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.?(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGTAATGCTGCAGGATGGT	0.657000													6	27					0	0	0.001168	0	0
RAD50	10111	broad.mit.edu	37	5	131931411	131931411	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:131931411C>G	ENST00000378823.3	+	13	2517	c.1699C>G	c.(1699-1701)Cga>Gga	p.R567G	RAD50_ENST00000265335.6_Missense_Mutation_p.R706G	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	706					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	p.R706G(1)|p.R567G(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCTAAACTGCGACTTGCTCC	0.438000								Homologous recombination					27	17					0	0	0.007291	0	0
TMCO1	54499	broad.mit.edu	37	1	165697284	165697284	+	Silent	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:165697284T>G	ENST00000367881.5	-	7	971	c.696A>C	c.(694-696)ccA>ccC	p.P232P	TMCO1_ENST00000392129.6_Silent_p.P181P|TMCO1_ENST00000580248.1_Silent_p.P97P|TMCO1_ENST00000464650.1_Silent_p.P97P			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	181						endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.P181P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CAGAAGGAGGTGGTGGGCCAA	0.468000													23	97					0	0	0.012319	0	0
RECQL4	9401	broad.mit.edu	37	8	145737889	145737889	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:145737889C>G	ENST00000428558.2	-	18	2982	c.2941G>C	c.(2941-2943)Ggc>Cgc	p.G981R	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	981					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	p.G981R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GAGCTGCTGCCTTGCCCTGGG	0.632000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				6	23					0	0	0.001168	0	0
OLFML2A	169611	broad.mit.edu	37	9	127563737	127563737	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:127563737T>G	ENST00000373580.3	+	5	714	c.714T>G	c.(712-714)agT>agG	p.S238R	OLFML2A_ENST00000288815.5_Missense_Mutation_p.S24R	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	238								p.S238R(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						AGTATGGCAGTGTGCAGAAAA	0.517000													17	90					0	0	0.006122	0	0
TENM1	10178	broad.mit.edu	37	X	124097465	124097465	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:124097465C>A	ENST00000422452.2	-	1	201	c.138G>T	c.(136-138)ctG>ctT	p.L46L	TENM1_ENST00000371130.3_Silent_p.L46L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.L46L(1)									TATACTCGTGCAGGGTCTCCC	0.398000													32	286					2.42023e-17	3.95814e-17	0.003271	1	0
DST	667	broad.mit.edu	37	6	56472827	56472827	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:56472827A>T	ENST00000370754.5	-	39	6499	c.6500T>A	c.(6499-6501)tTa>tAa	p.L2167*	DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Nonsense_Mutation_p.L1989*|DST_ENST00000370769.4_Nonsense_Mutation_p.L1989*|DST_ENST00000312431.6_Nonsense_Mutation_p.L1989*|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Nonsense_Mutation_p.L1663*|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	1989					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			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)			AGATAGAAATAATTTTTTAGT	0.378000													8	50					0	0	0.003080	0	0
NAALAD2	10003	broad.mit.edu	37	11	89883659	89883659	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:89883659G>T	ENST00000534061.1	+	5	723	c.493G>T	c.(493-495)Gta>Tta	p.V165L	NAALAD2_ENST00000525171.1_Missense_Mutation_p.V165L|NAALAD2_ENST00000375944.3_Missense_Mutation_p.V165L|NAALAD2_ENST00000321955.4_Missense_Mutation_p.V165L	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	165					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.V165L(1)		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)				GGGAGATCTTGTATATGTGAA	0.299000													7	33					8.12818e-05	9.52121e-05	0.001984	1	0
OR6A2	8590	broad.mit.edu	37	11	6816387	6816387	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:6816387C>A	ENST00000332601.3	-	1	741	c.553G>T	c.(553-555)Gat>Tat	p.D185Y		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D185Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGAGAGACATCACAGAAAAAG	0.458000													15	92					4.93089e-13	7.53677e-13	0.002450	1	0
SYNJ2	8871	broad.mit.edu	37	6	158502332	158502332	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:158502332G>T	ENST00000355585.4	+	19	2834	c.2759G>T	c.(2758-2760)gGg>gTg	p.G920V	SYNJ2_ENST00000367112.1_Missense_Mutation_p.G5V|SYNJ2_ENST00000367121.3_Missense_Mutation_p.G920V|SYNJ2_ENST00000367122.2_Missense_Mutation_p.G920V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	920	RRM.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.G920V(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGACCTTGGGGAGTTATGGG	0.522000													24	97					7.87624e-14	1.22717e-13	0.002780	1	0
OR13G1	441933	broad.mit.edu	37	1	247835538	247835538	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:247835538T>G	ENST00000359688.2	-	1	827	c.806A>C	c.(805-807)aAg>aCg	p.K269T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K269T(1)		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)			AGCTACCACCTTGTCTCTTTC	0.453000													12	101					0	0	0.010729	0	0
ZNF675	171392	broad.mit.edu	37	19	23845011	23845011	+	Splice_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:23845011C>A	ENST00000359788.4	-	3	299	c.130_splice	c.e3-1	p.G44_splice	ZNF675_ENST00000601010.1_Splice_Site_p.G44_splice|ZNF675_ENST00000599168.1_Splice_Site_p.G44_splice|ZNF675_ENST00000600313.1_Splice_Site_p.G44_splice|ZNF675_ENST00000596211.1_Splice_Site_p.G44_splice|ZNF675_ENST00000601935.1_Splice_Site_p.G44_splice	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	44	KRAB.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.G44V(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GACAGCAATACCTGttttatt	0.368000													26	42					2.87052e-16	4.62154e-16	0.005524	1	0
PTPRN2	5799	broad.mit.edu	37	7	157985171	157985171	+	Missense_Mutation	SNP	C	C	A	rs140977880	byFrequency	TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:157985171C>A	ENST00000389413.3	-	5	500	c.397G>T	c.(397-399)Gtt>Ttt	p.V133F	PTPRN2_ENST00000404321.2_Missense_Mutation_p.V156F|PTPRN2_ENST00000409483.1_Missense_Mutation_p.V95F|PTPRN2_ENST00000389416.4_Missense_Mutation_p.V116F|PTPRN2_ENST00000389418.4_Missense_Mutation_p.V133F	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	133						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V133I(2)|p.V133F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCGCTGCCAACGCTGTGTTTT	0.632000													19	74					8.10497e-08	1.06959e-07	0.010504	1	0
RUNX3	864	broad.mit.edu	37	1	25256084	25256084	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:25256084G>T	ENST00000399916.1	-	2	756	c.318C>A	c.(316-318)gcC>gcA	p.A106A	RUNX3_ENST00000308873.6_Silent_p.A92A|RUNX3_ENST00000338888.3_Silent_p.A106A	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	92	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.A92A(1)|p.A106A(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TCACCTTGAAGGCGACGGGCA	0.726000													11	7					4.36969e-10	6.22584e-10	0.001855	1	0
CPNE5	57699	broad.mit.edu	37	6	36711516	36711516	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:36711516C>T	ENST00000244751.2	-	20	2137	c.1513G>A	c.(1513-1515)Gac>Aac	p.D505N	CPNE5_ENST00000393189.2_Missense_Mutation_p.D213N|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	505	VWFA.							p.D505N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ATCCGCACGTCGTCGCCATCC	0.632000													13	74					0	0	0.003163	0	0
OR1L4	254973	broad.mit.edu	37	9	125486596	125486596	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:125486596A>G	ENST00000259466.1	+	1	328	c.328A>G	c.(328-330)Aac>Gac	p.N110D		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N110D(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GGCATTTGGGAACACTGACAG	0.478000													9	285					0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9047205	9047205	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:9047205G>T	ENST00000397910.4	-	5	34629	c.34426C>A	c.(34426-34428)Cca>Aca	p.P11476T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11478	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P11476T(1)|p.P7109T(1)		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						GTCAGTGTTGGGAAAGTTGTA	0.507000													18	90					1.15919e-05	1.40675e-05	0.008871	1	0
ZNF804A	91752	broad.mit.edu	37	2	185802585	185802585	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:185802585C>A	ENST00000302277.6	+	4	3056	c.2462C>A	c.(2461-2463)cCc>cAc	p.P821H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	821						intracellular	zinc ion binding	p.P821H(1)|p.P821R(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGATTCCACCCCGGATTTGAA	0.388000													29	88					1.50538e-07	1.96513e-07	0.006320	1	0
TLE4	7091	broad.mit.edu	37	9	82319742	82319742	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:82319742G>T	ENST00000376520.4	+	9	1482	c.654G>T	c.(652-654)aaG>aaT	p.K218N	TLE4_ENST00000265284.6_Missense_Mutation_p.K193N|TLE4_ENST00000376537.4_Missense_Mutation_p.K218N|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376552.2_Missense_Mutation_p.K218N|TLE4_ENST00000376544.3_Missense_Mutation_p.K218N			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0								p.K218N(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GTGCTGAGAAGCACAGAAACT	0.433000													76	183					8.27458e-37	1.55712e-36	0.003610	1	0
NOL4	8715	broad.mit.edu	37	18	31537451	31537451	+	Silent	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr18:31537451A>G	ENST00000261592.5	-	8	1564	c.1267T>C	c.(1267-1269)Ttg>Ctg	p.L423L	NOL4_ENST00000535475.1_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Silent_p.L349L|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535384.1_Silent_p.L138L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	423						nucleolus	RNA binding	p.L423L(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ATTCGGTCCAAGTTTTCATCT	0.493000													5	34					0	0	0.000602	0	0
DMRTA1	63951	broad.mit.edu	37	9	22451687	22451687	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:22451687G>C	ENST00000325870.1	+	2	1517	c.1292G>C	c.(1291-1293)aGa>aCa	p.R431T		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	431					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.R431T(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GTAAATCCTAGAGTAGGTATC	0.418000													18	100					0	0	0.007413	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896673	151896673	+	RNA	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:151896673C>A	ENST00000361201.4	-	0	267					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						CCTGGTCTCTCCATGCCTCCC	0.522000													18	104					5.03518e-11	7.34741e-11	0.007413	1	0
MUC3A	4584	broad.mit.edu	37	7	100552062	100552062	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:100552062T>A	ENST00000319509.7	+	1	813	c.813T>A	c.(811-813)agT>agA	p.S271R						mucin 3A, cell surface associated									p.S271R(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACATTTTCAGTACAGAAAATG	0.468000													119	845					0	0	0.003610	0	0
TG	7038	broad.mit.edu	37	8	133984896	133984896	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:133984896G>A	ENST00000220616.4	+	34	6149	c.6109G>A	c.(6109-6111)Gag>Aag	p.E2037K	TG_ENST00000542445.1_Missense_Mutation_p.E407K|TG_ENST00000519543.1_Missense_Mutation_p.E191K|TG_ENST00000377869.1_Missense_Mutation_p.E1980K|TG_ENST00000522523.1_3'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2037					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.E2037K(1)		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)		GATGTGCAGTGAGGAGAATGG	0.488000													15	142					0	0	0.003163	0	0
LTBP1	4052	broad.mit.edu	37	2	33487838	33487838	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:33487838C>A	ENST00000404816.2	+	14	2821	c.2468C>A	c.(2467-2469)cCc>cAc	p.P823H	LTBP1_ENST00000390003.4_Missense_Mutation_p.P497H|LTBP1_ENST00000404525.1_Missense_Mutation_p.P444H|LTBP1_ENST00000418533.2_Missense_Mutation_p.P497H|LTBP1_ENST00000354476.3_Missense_Mutation_p.P823H|LTBP1_ENST00000402934.1_Missense_Mutation_p.P444H|LTBP1_ENST00000407925.1_Missense_Mutation_p.P497H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	823					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.P823H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCTGGTCAACCCCAGCTGTCT	0.383000													16	64					8.60227e-14	1.33885e-13	0.004007	1	0
L1CAM	3897	broad.mit.edu	37	X	153134360	153134360	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:153134360C>G	ENST00000370060.1	-	12	1504	c.1315G>C	c.(1315-1317)Gtc>Ctc	p.V439L	L1CAM_ENST00000543994.1_Missense_Mutation_p.V441L|L1CAM_ENST00000361699.4_Missense_Mutation_p.V439L|L1CAM_ENST00000370057.3_Missense_Mutation_p.V439L|L1CAM_ENST00000370055.1_Missense_Mutation_p.V434L|L1CAM_ENST00000361981.3_Missense_Mutation_p.V434L|L1CAM_ENST00000538883.1_Missense_Mutation_p.V441L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	439	Ig-like C2-type 5.		Missing (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.V439L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCCCTGGACAGCCATGTAC	0.602000													25	41					0	0	0.003954	0	0
SUN3	256979	broad.mit.edu	37	7	48046873	48046873	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:48046873G>A	ENST00000453192.2	-	6	588	c.345C>T	c.(343-345)atC>atT	p.I115I	SUN3_ENST00000297325.4_Silent_p.I127I|SUN3_ENST00000412142.1_Silent_p.I27I|SUN3_ENST00000395572.2_Silent_p.I127I			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	127						integral to membrane		p.I127I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTATTTGTTCGATCAAAAATA	0.423000													12	40					0	0	0.001855	0	0
OR5B12	390191	broad.mit.edu	37	11	58206760	58206760	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:58206760T>A	ENST00000302572.2	-	1	886	c.865A>T	c.(865-867)Agc>Tgc	p.S289C		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S289C(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTCCTCAGGCTGTAGACCAGT	0.393000													7	40					0	0	0.001984	0	0
PNRC1	10957	broad.mit.edu	37	6	89790745	89790745	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:89790745G>A	ENST00000336032.3	+	1	249	c.132G>A	c.(130-132)cgG>cgA	p.R44R	PNRC1_ENST00000369472.1_Intron	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.R44R(1)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CTTTACCCCGGATCCCGGACC	0.692000										Multiple Myeloma(7;0.094)			12	53					0	0	0.010729	0	0
GATA1	2623	broad.mit.edu	37	X	48649678	48649678	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:48649678C>T	ENST00000376670.3	+	2	273	c.162C>T	c.(160-162)acC>acT	p.T54T	GATA1_ENST00000376665.3_Silent_p.T54T	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	54					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M1fs(7)|p.D42_D74>(3)|p.A53fs*7(3)|p.T48fs*11(2)|p.T54fs*85(1)|p.T52fs*8(1)|p.T54N(1)|p.T54fs*8(1)|p.S47fs*9(1)|p.T54fs*87(1)|p.P50fs*6(1)|p.T54fs*15(1)|p.A55fs*83(1)|p.S51fs*83(1)|p.S51fs*72(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GCACAGCCACCGCTGCAGCTG	0.612000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								4	17					0	0	0.009096	0	0
DCAF8	50717	broad.mit.edu	37	1	160209950	160209950	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:160209950T>A	ENST00000368073.3	-	4	694	c.260A>T	c.(259-261)tAc>tTc	p.Y87F	DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000326837.2_Missense_Mutation_p.Y87F|DCAF8_ENST00000556710.1_Missense_Mutation_p.Y241F|DCAF8_ENST00000368074.1_Missense_Mutation_p.Y87F			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	87						CUL4 RING ubiquitin ligase complex	protein binding	p.Y241F(1)|p.Y87F(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						ATTAATGGAGTAATGACCAGT	0.542000													15	18					0	0	0.003163	0	0
CCDC30	728621	broad.mit.edu	37	1	43021930	43021930	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:43021930C>T	ENST00000428554.2	+	12	1672	c.529C>T	c.(529-531)Cga>Tga	p.R177*	CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.R177*|CCDC30_ENST00000340612.4_Nonsense_Mutation_p.R177*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	177								p.R177*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						ACAACAGAATCGAGATATGAA	0.438000													4	69					0	0	0.009096	0	0
TMEM120B	144404	broad.mit.edu	37	12	122199630	122199630	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:122199630C>T	ENST00000449592.2	+	6	638	c.537C>T	c.(535-537)atC>atT	p.I179I	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	179						integral to membrane		p.I179I(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		GCATTCTCATCAGCAACGGCT	0.572000													5	49					0	0	0.001168	0	0
PDIA5	10954	broad.mit.edu	37	3	122849376	122849376	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:122849376G>T	ENST00000316218.7	+	11	918	c.823G>T	c.(823-825)Ggc>Tgc	p.G275C		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	275	Thioredoxin 2.				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	p.G275C(1)		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)		GGCAGATGAGGGCGGCTCCGT	0.587000													10	80					2.17888e-05	2.6071e-05	0.006214	1	0
KCNK1	3775	broad.mit.edu	37	1	233802492	233802492	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:233802492C>T	ENST00000366621.3	+	2	675	c.507C>T	c.(505-507)caC>caT	p.H169H	KCNK1_ENST00000366620.1_Silent_p.H53H|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	169						voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.H169H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCTACTTCCACATCCGCTGGG	0.607000													6	60					0	0	0.001168	0	0
PSIP1	11168	broad.mit.edu	37	9	15469012	15469012	+	Silent	SNP	A	A	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:15469012A>C	ENST00000380733.4	-	13	1492	c.1149T>G	c.(1147-1149)ctT>ctG	p.L383L	PSIP1_ENST00000380738.4_Silent_p.L383L			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	383					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	p.L383L(1)		breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTGTGACCTGAAGTGAAGCAA	0.348000													5	29					0	0	0.001168	0	0
IQCG	84223	broad.mit.edu	37	3	197670690	197670690	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:197670690T>C	ENST00000265239.6	-	4	665	c.241A>G	c.(241-243)Atc>Gtc	p.I81V	IQCG_ENST00000455191.1_Missense_Mutation_p.I81V|IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000453254.1_Missense_Mutation_p.I81V	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	81								p.I81V(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		ACGGGCATGATGTAGTTCAGA	0.463000													55	96					0	0	0.003610	0	0
CRMP1	1400	broad.mit.edu	37	4	5843073	5843073	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:5843073T>C	ENST00000324989.7	-	8	1203	c.1115A>G	c.(1114-1116)aAg>aGg	p.K372R	CRMP1_ENST00000512574.1_Missense_Mutation_p.K256R|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Missense_Mutation_p.K258R	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	258					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	p.K372R(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GGCTGCACTCTTGCTCATGAC	0.637000													111	105					0	0	0.003610	0	0
RPRD1A	55197	broad.mit.edu	37	18	33606995	33606995	+	Silent	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr18:33606995C>G	ENST00000399022.4	-	6	828	c.657G>C	c.(655-657)gcG>gcC	p.A219A	RPRD1A_ENST00000590898.1_Silent_p.A183A|RPRD1A_ENST00000319040.6_Silent_p.A219A|RPRD1A_ENST00000588737.1_Silent_p.A183A|RPRD1A_ENST00000337059.5_Silent_p.A183A|RPRD1A_ENST00000357384.4_Silent_p.A219A	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	219								p.A219A(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GCAACATACACGCATCCTCTA	0.373000													15	33					0	0	0.003163	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22330820	22330820	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:22330820C>G	ENST00000344041.6	-	6	574	c.262G>C	c.(262-264)Gaa>Caa	p.E88Q	RAPGEF5_ENST00000405243.1_Missense_Mutation_p.E241Q|RAPGEF5_ENST00000475788.1_5'UTR	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	48	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	p.E88Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						ACAAGAATTTCATCACTGCTT	0.378000													2	3					0	0	0.004672	0	0
LRRN3	54674	broad.mit.edu	37	7	110764558	110764558	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:110764558T>A	ENST00000451085.1	+	4	2776	c.1730T>A	c.(1729-1731)gTa>gAa	p.V577E	IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.V577E|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.V577E|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	577	Fibronectin type-III.					integral to membrane		p.V577E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GATGTCAAGGTATATAATCTT	0.338000													7	58					0	0	0.001984	0	0
USH2A	7399	broad.mit.edu	37	1	216243506	216243506	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:216243506T>G	ENST00000366943.2	-	30	6372	c.5986A>C	c.(5986-5988)Agc>Cgc	p.S1996R	USH2A_ENST00000307340.3_Missense_Mutation_p.S1996R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1996	Fibronectin type-III 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.S1996R(1)		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)		GGACGGGTGCTGTCCTCACTA	0.468000										HNSCC(13;0.011)			11	64					0	0	0.010729	0	0
REG1B	5968	broad.mit.edu	37	2	79313967	79313967	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:79313967C>A	ENST00000305089.3	-	3	234	c.154G>T	c.(154-156)Gaa>Taa	p.E52*		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	52	C-type lectin.				cell proliferation	extracellular region	sugar binding	p.E52*(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TCAGGGTCTTCATTAAAGTAG	0.532000													55	111					9.55421e-19	1.6079e-18	0.003610	1	0
ASCC3	10973	broad.mit.edu	37	6	101037629	101037629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:101037629C>A	ENST00000369162.2	-	36	5775	c.5431G>T	c.(5431-5433)Gaa>Taa	p.E1811*		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTTAGAGGTTCAATGCTGCGA	0.343000													15	126					1.52009e-12	2.31124e-12	0.003163	1	0
ERCC5	2073	broad.mit.edu	37	13	103528219	103528219	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:103528219T>C	ENST00000355739.4	+	15	4950	c.3527T>C	c.(3526-3528)cTa>cCa	p.L1176P	ERCC5_ENST00000472247.1_3'UTR|ERCC5_ENST00000375954.1_Missense_Mutation_p.L409P	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5									p.L1176P(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGAAGGAAACTAAGACGTGCG	0.423000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				8	20					0	0	0.004482	0	0
CELSR2	1952	broad.mit.edu	37	1	109801502	109801502	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:109801502G>T	ENST00000271332.3	+	2	3820	c.3759G>T	c.(3757-3759)gcG>gcT	p.A1253A		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1253	EGF-like 1; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.A1253A(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ACTCCTCCGCGCCCTTCATCG	0.692000													5	11					0.000602214	0.000681726	0.000602	1	0
HBG1	3047	broad.mit.edu	37	11	5269692	5269692	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:5269692A>T	ENST00000330597.3	-	3	428	c.341T>A	c.(340-342)gTt>gAt	p.V114D		NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	114					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding	p.V114D(1)		large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTGCCAAAACGGTCACCAG	0.522000													8	52					0	0	0.001855	0	0
ECM2	1842	broad.mit.edu	37	9	95285118	95285118	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:95285118G>A	ENST00000344604.5	-	2	180	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.L11L|ECM2_ENST00000375540.1_Silent_p.L11L	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	11					cell-matrix adhesion		integrin binding	p.L11L(2)|p.L11fs*8(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ATGATAAGCAGAAAAAAACAA	0.323000													5	73					0	0	0.001168	0	0
PTGER2	5732	broad.mit.edu	37	14	52781861	52781861	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:52781861C>A	ENST00000245457.5	+	1	749	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	199						integral to plasma membrane	prostaglandin E receptor activity	p.L199M(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TTACCTGCAGCTGTACGCCAC	0.622000													16	35					6.31663e-08	8.35109e-08	0.003163	1	0
TEX2	55852	broad.mit.edu	37	17	62270972	62270972	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:62270972G>C	ENST00000258991.3	-	4	2207	c.2123C>G	c.(2122-2124)tCt>tGt	p.S708C	TEX2_ENST00000584379.1_Missense_Mutation_p.S708C|TEX2_ENST00000583097.1_Missense_Mutation_p.S708C			Q8IWB9	TEX2_HUMAN	testis expressed 2	708					signal transduction|sphingolipid metabolic process	integral to membrane		p.S708C(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CTTTAGCTTAGATGCCAGAAT	0.428000													62	150					0	0	0.003610	0	0
COL11A1	1301	broad.mit.edu	37	1	103354296	103354296	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:103354296C>A	ENST00000358392.2	-	61	4890	c.4573G>T	c.(4573-4575)Ggt>Tgt	p.G1525C	COL11A1_ENST00000353414.4_Missense_Mutation_p.G1474C|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1397C|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1513C	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1513	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	p.G1525C(1)|p.G1513C(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)		CCTTTGTTACCCTTTGGGCCT	0.353000													29	35					3.73148e-12	5.60302e-12	0.007291	1	0
LYST	1130	broad.mit.edu	37	1	235973040	235973040	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:235973040C>A	ENST00000389794.3	-	5	1252	c.1078G>T	c.(1078-1080)Gct>Tct	p.A360S	LYST_ENST00000389793.2_Missense_Mutation_p.A360S|LYST_ENST00000536965.1_Missense_Mutation_p.A360S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	360					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.A360S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATTTTTAAAGCTGCTCTAAGC	0.378000													48	75					1.35964e-18	2.28023e-18	0.003610	1	0
TNR	7143	broad.mit.edu	37	1	175304848	175304848	+	Splice_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:175304848C>A	ENST00000367674.1	-	20	4338	c.3631_splice	c.e20+1	p.L1210_splice	TNR_ENST00000263525.2_Splice_Site_p.L1210_splice	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1210	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.L1210L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGCTTTACCCAGCCAGAACT	0.468000													17	91					5.01169e-05	5.90882e-05	0.004990	1	0
GXYLT1	283464	broad.mit.edu	37	12	42499723	42499723	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:42499723C>A	ENST00000398675.3	-	5	993	c.761G>T	c.(760-762)gGa>gTa	p.G254V	GXYLT1_ENST00000280876.6_Missense_Mutation_p.G223V	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	254					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	p.G254I(1)|p.G223I(1)		kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						ATTATACCATCCTATTCGAGG	0.368000													42	35					2.24893e-16	3.62885e-16	0.009718	1	0
AKAP9	10142	broad.mit.edu	37	7	91736614	91736614	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:91736614A>T	ENST00000359028.2	+	48	11661	c.11436A>T	c.(11434-11436)gaA>gaT	p.E3812D	AKAP9_ENST00000358100.2_Missense_Mutation_p.E3758D|AKAP9_ENST00000356239.3_Missense_Mutation_p.E3808D			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3812					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.E3812D(1)|p.E3808D(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAGGTGCAGAAAAGACTGACT	0.343000			T	BRAF	papillary thyroid								39	90					0	0	0.006999	0	0
OR8I2	120586	broad.mit.edu	37	11	55861488	55861488	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:55861488G>T	ENST00000302124.2	+	1	736	c.705G>T	c.(703-705)aaG>aaT	p.K235N	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K235N(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCAGGCAGAAGGCCTTCTCCA	0.478000													20	82					3.99206e-14	6.23329e-14	0.007413	1	0
DRD2	1813	broad.mit.edu	37	11	113285144	113285144	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:113285144C>A	ENST00000362072.3	-	6	1107	c.763G>T	c.(763-765)Gtt>Ttt	p.V255F	DRD2_ENST00000538967.1_Missense_Mutation_p.V255F|DRD2_ENST00000542968.1_Missense_Mutation_p.V255F|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000346454.3_Intron|DRD2_ENST00000355319.2_Missense_Mutation_p.V255F|DRD2_ENST00000544518.1_Missense_Mutation_p.V254F	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	255	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.V255F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TTCATGATAACGGTGCAGAGT	0.567000													16	113					2.23348e-06	2.79958e-06	0.004007	1	0
EPHA6	285220	broad.mit.edu	37	3	97329697	97329697	+	Splice_Site	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:97329697G>T	ENST00000389672.5	+	13	2611	c.2574_splice	c.e13+1	p.R858_splice	EPHA6_ENST00000502694.1_Splice_Site_p.R250_splice|EPHA6_ENST00000514100.1_Splice_Site_p.R250_splice|EPHA6_ENST00000442602.2_Splice_Site_p.R224_splice	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	763	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R250L(1)|p.R764L(1)|p.R858L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCCTTTTTGCGGGTGAGGTGT	0.338000													9	86					0.000274275	0.000314418	0.004482	1	0
NSMCE2	286053	broad.mit.edu	37	8	126379083	126379083	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:126379083G>T	ENST00000287437.3	+	8	916	c.700G>T	c.(700-702)Gca>Tca	p.A234S	NSMCE2_ENST00000522563.1_Missense_Mutation_p.A234S|NSMCE2_ENST00000521460.1_3'UTR|NSMCE2_ENST00000517315.1_Missense_Mutation_p.A174S	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	234					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding	p.A234S(1)		breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			ACTTAGAAGGGCAATTGAGAA	0.473000													7	61					8.12818e-05	9.52121e-05	0.001984	1	0
EPS8L3	79574	broad.mit.edu	37	1	110294767	110294767	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:110294767C>T	ENST00000369805.3	-	15	1516	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Intron|EPS8L3_ENST00000361965.4_Silent_p.K428K	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	428						cytoplasm	protein binding	p.K429K(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GGTTGTGTGTCTTCTCCTGAG	0.552000													31	260					0	0	0.012213	0	0
ANKLE2	23141	broad.mit.edu	37	12	133331553	133331553	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:133331553C>A	ENST00000539605.1	-	1	6846	c.162G>T	c.(160-162)agG>agT	p.R54S	ANKLE2_ENST00000357997.5_Missense_Mutation_p.R116S|ANKLE2_ENST00000337516.5_Missense_Mutation_p.R116S			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	116						cytoplasm|integral to membrane|nuclear envelope		p.R116S(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AAGAAGACAGCCTTCCTCCTT	0.473000													10	89					2.17888e-05	2.6071e-05	0.006214	1	0
FBXL20	84961	broad.mit.edu	37	17	37457329	37457329	+	Splice_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:37457329C>A	ENST00000264658.6	-	4	420		c.e4-1		FBXL20_ENST00000583610.1_Splice_Site|FBXL20_ENST00000577399.1_Splice_Site|FBXL20_ENST00000394294.3_Splice_Site	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20							cytoplasm		p.?(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			CATTCCAGGCCTATTTTAAAG	0.403000													32	35					8.91981e-05	0.000104401	0.003271	1	0
COL11A1	1301	broad.mit.edu	37	1	103412446	103412446	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:103412446G>C	ENST00000358392.2	-	42	3588	c.3271C>G	c.(3271-3273)Cct>Gct	p.P1091A	COL11A1_ENST00000353414.4_Missense_Mutation_p.P1040A|COL11A1_ENST00000512756.1_Missense_Mutation_p.P963A|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1079A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1079	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	p.P1091A(1)|p.P1079A(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)		GGACCCTGAGGTCCCGGGCGC	0.473000													14	19					0	0	0.003163	0	0
SORCS3	22986	broad.mit.edu	37	10	106974204	106974204	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:106974204C>A	ENST00000369701.3	+	18	2607	c.2380C>A	c.(2380-2382)Cgg>Agg	p.R794R	SORCS3_ENST00000369699.4_Silent_p.R80R	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	794						integral to membrane	neuropeptide receptor activity	p.R794R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACTTAGGTATCGGCGGATTGT	0.478000													5	67					1.23904e-05	1.49739e-05	0.000602	1	0
PABPC3	5042	broad.mit.edu	37	13	25672221	25672221	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:25672221C>A	ENST00000281589.3	+	1	1922	c.1885C>A	c.(1885-1887)Cca>Aca	p.P629T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	629					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.P629T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TACCGGTGTTCCAACTGTTTA	0.398000													45	131					4.21674e-32	7.81337e-32	0.003610	1	0
ZNF215	7762	broad.mit.edu	37	11	6977658	6977658	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:6977658C>G	ENST00000278319.5	+	7	2038	c.1450C>G	c.(1450-1452)Cac>Gac	p.H484D	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.H484D	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	484					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H484D(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CCAAATGATTCACACGGGAGA	0.373000													9	61					0	0	0.004482	0	0
UBE2A	7319	broad.mit.edu	37	X	118717129	118717129	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:118717129A>T	ENST00000371569.5	+	3	1391	c.145A>T	c.(145-147)Agc>Tgc	p.S49C	UBE2A_ENST00000371558.2_Missense_Mutation_p.S124C|UBE2A_ENST00000346330.3_Missense_Mutation_p.S94C	NM_181777.1	NP_861442.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	124				E -> G (in Ref. 1; AAA35981).	histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	p.S94C(1)|p.S124C(1)		haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						TCCAGCAAACAGCCAGGCTGC	0.418000								Rad6 pathway					19	107					0	0	0.007413	0	0
TP53	7157	broad.mit.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:7577097C>T	ENST00000420246.2	-	8	973	c.841G>A	c.(841-843)Gac>Aac	p.D281N	TP53_ENST00000359597.4_Missense_Mutation_p.D281N|TP53_ENST00000445888.2_Missense_Mutation_p.D281N|TP53_ENST00000455263.2_Missense_Mutation_p.D281N|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.D281N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GTGCGCCGGTCTCTCCCAGGA	0.547000		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)			16	13					0	0	0.004007	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879316	144879316	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:144879316C>A	ENST00000369359.4	-	30	4580	c.4542G>T	c.(4540-4542)cgG>cgT	p.R1514R	PDE4DIP_ENST00000530740.1_Silent_p.R1514R|PDE4DIP_ENST00000369354.3_Silent_p.R1378R|PDE4DIP_ENST00000369356.4_Silent_p.R1378R|PDE4DIP_ENST00000313382.9_Silent_p.R1334R|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1378					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.R1378R(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGGACCGGACCCGGCTCTTGA	0.493000			T	PDGFRB	MPD								103	367					5.77035e-48	1.10016e-47	0.003610	1	0
IFI44L	10964	broad.mit.edu	37	1	79107285	79107285	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:79107285G>C	ENST00000370751.4	+	8	1494	c.1315G>C	c.(1315-1317)Gag>Cag	p.E439Q	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Missense_Mutation_p.E181Q	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	439						cytoplasm		p.E400Q(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TTTGCCTCTTGAGGAAACTGG	0.453000													17	136					0	0	0.004007	0	0
PSEN2	5664	broad.mit.edu	37	1	227076648	227076648	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:227076648C>A	ENST00000366782.1	+	8	1284	c.784C>A	c.(784-786)Cag>Aag	p.Q262K	PSEN2_ENST00000472139.2_Missense_Mutation_p.Q85K|PSEN2_ENST00000340188.4_Missense_Mutation_p.Q229K|PSEN2_ENST00000391872.2_Missense_Mutation_p.Q262K|PSEN2_ENST00000366783.3_Missense_Mutation_p.Q229K|PSEN2_ENST00000422240.2_Missense_Mutation_p.Q229K			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	229					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding	p.Q229K(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GGTGCTGCAGCAGGCCTACCT	0.592000													18	38					6.94344e-10	9.83485e-10	0.006122	1	0
MSH2	4436	broad.mit.edu	37	2	47702164	47702164	+	Splice_Site	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:47702164G>A	ENST00000406134.1	+	12	1822	c.1759_splice	c.e12-1	p.G587_splice	MSH2_ENST00000543555.1_Splice_Site_p.G521_splice|MSH2_ENST00000233146.2_Splice_Site_p.G587_splice			P43246	MSH2_HUMAN	mutS homolog 2	587					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.G587D(1)		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)			TTTTATACAGGCTATGTAGAA	0.363000			"""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				5	41					0	0	0.001168	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474955	140474955	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:140474955C>A	ENST00000194155.4	+	1	729	c.581C>A	c.(580-582)cCa>cAa	p.P194Q		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		194	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.P194Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAATATTACCACAGCTGGTG	0.502000													19	12					3.32936e-07	4.29968e-07	0.006122	1	0
SERPINB10	5273	broad.mit.edu	37	18	61602339	61602339	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr18:61602339G>C	ENST00000238508.3	+	8	1116	c.1057G>C	c.(1057-1059)Gct>Cct	p.A353P	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10									p.A353P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TGAAGCTGCAGCTGGCAGTGG	0.393000													5	68					0	0	0.000602	0	0
ALG1L	200810	broad.mit.edu	37	3	125648220	125648220	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:125648220G>T	ENST00000340333.3	-	6	702	c.539C>A	c.(538-540)tCg>tAg	p.S180*	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	180							transferase activity, transferring glycosyl groups	p.S180*(1)		large_intestine(2)|lung(2)	4						CTGAGACTCCGAGAAGAAGCT	0.582000													9	43					5.50884e-06	6.75894e-06	0.001368	1	0
DCC	1630	broad.mit.edu	37	18	50432464	50432464	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr18:50432464G>A	ENST00000442544.2	+	3	1079	c.463G>A	c.(463-465)Gac>Aac	p.D155N	DCC_ENST00000412726.1_Missense_Mutation_p.D3N	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	155	Ig-like C2-type 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.D155N(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTTCATGGGAGACACAGTGCT	0.473000													23	27					0	0	0.003954	0	0
IFNA5	3442	broad.mit.edu	37	9	21304697	21304697	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:21304697T>C	ENST00000259555.4	-	1	615	c.559A>G	c.(559-561)Agg>Ggg	p.R187G		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	187					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.R187G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CATTCCTTCCTCCTTAATCTT	0.388000													76	231					0	0	0.003610	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432814	117432814	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:117432814G>T	ENST00000160373.3	-	4	527	c.436C>A	c.(436-438)Cta>Ata	p.L146I	CTTNBP2_ENST00000487820.1_5'UTR	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	146								p.L146I(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGGGCTTGTAGCTGAAGCTTC	0.448000													11	68					4.68919e-08	6.25657e-08	0.008291	1	0
NLRP13	126204	broad.mit.edu	37	19	56424253	56424253	+	Silent	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:56424253A>G	ENST00000588751.1	-	5	954	c.930T>C	c.(928-930)atT>atC	p.I310I	NLRP13_ENST00000342929.3_Silent_p.I310I			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	310	NACHT.						ATP binding	p.I310I(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAAGCCATCAATAATAAACA	0.448000													43	19					0	0	0.006999	0	0
DARC	2532	broad.mit.edu	37	1	159176165	159176165	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:159176165C>T	ENST00000537147.1	+	3	1779	c.936C>T	c.(934-936)acC>acT	p.T312T	DARC_ENST00000368121.2_Silent_p.T314T|DARC_ENST00000368122.2_Silent_p.T312T			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	312					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	p.T314T(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					ACCAGGCCACCCGCACCCTCT	0.587000													40	269					0	0	0.006230	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089497	43089497	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:43089497A>G	ENST00000359467.3	-	5	1015	c.901T>C	c.(901-903)Tat>Cat	p.Y301H	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	301						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y301H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CCACAATCATAGTGTTTCACA	0.388000													48	88					0	0	0.003610	0	0
NTNG2	84628	broad.mit.edu	37	9	135073437	135073437	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:135073437G>T	ENST00000393229.3	+	3	1074	c.298G>T	c.(298-300)Gag>Tag	p.E100*	NTNG2_ENST00000393228.4_Nonsense_Mutation_p.E100*|NTNG2_ENST00000360670.3_Nonsense_Mutation_p.E100*|NTNG2_ENST00000372179.3_Nonsense_Mutation_p.E100*	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	100	Laminin N-terminal.				axonogenesis	anchored to plasma membrane		p.E100*(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CGACAAGGAGGAGGAGGGCCT	0.637000													6	50					0.00116845	0.00131043	0.001168	1	0
OLFM3	118427	broad.mit.edu	37	1	102270432	102270432	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:102270432G>T	ENST00000370103.4	-	6	952	c.739C>A	c.(739-741)Cgt>Agt	p.R247S	OLFM3_ENST00000338858.5_Missense_Mutation_p.R267S|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	267	Olfactomedin-like.					extracellular region		p.R267S(1)|p.R247S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TTGTATTCACGAACAATTTTA	0.378000													6	63					3.59834e-05	4.26328e-05	0.001168	1	0
PRPF4B	8899	broad.mit.edu	37	6	4037797	4037797	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:4037797C>G	ENST00000337659.6	+	3	1505	c.1405C>G	c.(1405-1407)Cgg>Ggg	p.R469G	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R455G	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	469	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	p.R469G(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CAGATCTCCTCGGAGAAGGTA	0.438000													5	31					0	0	0.000602	0	0
VAPA	9218	broad.mit.edu	37	18	9936982	9936982	+	Splice_Site	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr18:9936982G>T	ENST00000400000.2	+	4	591		c.e4-1		VAPA_ENST00000584796.1_Splice_Site|VAPA_ENST00000340541.4_Splice_Site	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa						cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity	p.?(1)		breast(1)|lung(2)|prostate(1)	4						TTTATTTTTAGTGGAAAGAGG	0.368000													9	20					1.76689e-08	2.38161e-08	0.006214	1	0
OR2M3	127062	broad.mit.edu	37	1	248367104	248367104	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:248367104C>A	ENST00000456743.1	+	1	773	c.735C>A	c.(733-735)ctC>ctA	p.L245L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L245L(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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)			CCTCTCACCTCTTGGTGGTGG	0.478000													105	152					9.453e-31	1.74267e-30	0.003610	1	0
MYO18B	84700	broad.mit.edu	37	22	26164762	26164762	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr22:26164762G>T	ENST00000335473.7	+	4	1129	c.879G>T	c.(877-879)gtG>gtT	p.V293V	MYO18B_ENST00000536101.1_Silent_p.V293V|MYO18B_ENST00000407587.2_Silent_p.V293V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	293						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.V293V(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAAACACGGTGGAAAAGGGGA	0.602000													8	3					1.06961e-07	1.40769e-07	0.003080	1	0
TEX26	122046	broad.mit.edu	37	13	31543049	31543049	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:31543049G>T	ENST00000380473.3	+	6	687	c.674G>T	c.(673-675)aGg>aTg	p.R225M	TEX26_ENST00000530916.1_Intron	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	225								p.R225M(1)									AGCTACCTGAGGAACCAAGAG	0.458000													20	80					3.51602e-12	5.28497e-12	0.008871	1	0
EHBP1	23301	broad.mit.edu	37	2	63182783	63182783	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:63182783G>T	ENST00000263991.5	+	15	3035	c.2553G>T	c.(2551-2553)agG>agT	p.R851S	EHBP1_ENST00000405015.3_Missense_Mutation_p.R816S|EHBP1_ENST00000431489.1_Missense_Mutation_p.R816S|EHBP1_ENST00000354487.3_Missense_Mutation_p.R816S|EHBP1_ENST00000405289.1_Missense_Mutation_p.R816S	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	851						cytoplasm|membrane		p.R851S(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCTGCAACAGGCAGCTAAGTG	0.438000													15	36					6.72482e-11	9.7834e-11	0.003163	1	0
TNRC6C	57690	broad.mit.edu	37	17	76079138	76079138	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:76079138A>T	ENST00000335749.4	+	11	3928	c.3359A>T	c.(3358-3360)cAg>cTg	p.Q1120L	TNRC6C_ENST00000301624.4_Missense_Mutation_p.Q1123L|TNRC6C_ENST00000588061.1_Missense_Mutation_p.Q1123L|TNRC6C_ENST00000541771.1_Missense_Mutation_p.Q1123L|TNRC6C_ENST00000544502.1_Missense_Mutation_p.Q1120L|TNRC6C_ENST00000588847.1_Missense_Mutation_p.Q1120L	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1123					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.Q1123L(1)|p.Q1120L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GTTCAAGCACAGCTTTTGCAG	0.343000													31	51					0	0	0.008361	0	0
IKBKE	9641	broad.mit.edu	37	1	206650076	206650076	+	Missense_Mutation	SNP	G	G	T	rs147887008		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:206650076G>T	ENST00000367120.3	+	7	969	c.596G>T	c.(595-597)gGg>gTg	p.G199V	IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_Missense_Mutation_p.G114V	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	199	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	p.G199V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					AAAGCGTTCGGGGTGACTGTG	0.612000													21	24					1.01871e-10	1.47611e-10	0.008871	1	0
CYLC2	1539	broad.mit.edu	37	9	105767254	105767254	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:105767254T>C	ENST00000374798.3	+	5	411	c.341T>C	c.(340-342)aTt>aCt	p.I114T	CYLC2_ENST00000487798.1_Missense_Mutation_p.I114T	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	114	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.I114T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TCCCCAGAAATTGGTAAGAAA	0.289000													14	77					0	0	0.002450	0	0
COL11A1	1301	broad.mit.edu	37	1	103379962	103379962	+	Splice_Site	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:103379962C>T	ENST00000358392.2	-	52	4278		c.e52-1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						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.?(2)		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)		CAACAGGACCCTAGAATGACG	0.363000													4	28					0	0	0.009096	0	0
IL2	3558	broad.mit.edu	37	4	123377449	123377449	+	Splice_Site	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:123377449A>T	ENST00000226730.4	-	1	431	c.147_splice	c.e1+1	p.N49_splice		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	49					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	p.N49K(1)		endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		ATATACTTACATTAATTCCAT	0.299000			T	TNFRSF17	intestinal T-cell lymphoma								12	38					0	0	0.010729	0	0
DLGAP1	9229	broad.mit.edu	37	18	3729256	3729256	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr18:3729256C>A	ENST00000315677.3	-	7	2065	c.1470G>T	c.(1468-1470)cgG>cgT	p.R490R	DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000400149.3_Silent_p.R198R|DLGAP1_ENST00000581527.1_Silent_p.R490R|DLGAP1_ENST00000539435.1_Silent_p.R188R|DLGAP1_ENST00000584874.1_Silent_p.R490R|DLGAP1_ENST00000400147.2_Silent_p.R188R|DLGAP1_ENST00000400145.2_Silent_p.R188R|DLGAP1_ENST00000515196.2_Silent_p.R490R|DLGAP1_ENST00000581699.1_Silent_p.R196R|DLGAP1_ENST00000400150.3_Silent_p.R196R|DLGAP1_ENST00000400155.1_Silent_p.R196R|DLGAP1_ENST00000534970.1_Silent_p.R202R	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	490					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.R490R(1)|p.R188R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AGCTGTGGCTCCGCATGCGGA	0.667000													3	15					0.004672	0.00511309	0.004672	1	0
KCNK10	54207	broad.mit.edu	37	14	88729806	88729806	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:88729806G>A	ENST00000340700.5	-	2	578	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	KCNK10_ENST00000319231.5_Silent_p.L48L|KCNK10_ENST00000312350.5_Silent_p.L48L	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	43					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.L48L(2)|p.L43L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAAATGGACAGGCGCGGAGTT	0.642000													18	66					0	0	0.006122	0	0
MYH1	4619	broad.mit.edu	37	17	10399606	10399606	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:10399606C>A	ENST00000226207.5	-	34	5011	c.4917G>T	c.(4915-4917)atG>atT	p.M1639I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1639						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.M1639I(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTCAGCAGCCATGCGGTTGG	0.507000													27	124					7.41945e-09	1.01231e-08	0.005443	1	0
CTNNA2	1496	broad.mit.edu	37	2	80136922	80136922	+	Splice_Site	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:80136922A>T	ENST00000466387.1	+	11	1779	c.1056_splice	c.e11+1	p.N352_splice	CTNNA2_ENST00000361291.4_Splice_Site_p.N386_splice|CTNNA2_ENST00000540488.1_Splice_Site_p.N352_splice|CTNNA2_ENST00000496558.1_Splice_Site_p.N352_splice|CTNNA2_ENST00000541047.1_Splice_Site_p.N352_splice|CTNNA2_ENST00000402739.4_Splice_Site_p.N352_splice			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	352					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.N352I(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TACATGAATAATGTAAGTCTT	0.542000													14	21					0	0	0.001855	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030062	95030062	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:95030062C>A	ENST00000557004.1	+	2	664	c.243C>A	c.(241-243)agC>agA	p.S81R	SERPINA4_ENST00000555095.1_Missense_Mutation_p.S81R|SERPINA4_ENST00000298841.5_Missense_Mutation_p.S81R|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	81					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.S81R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCCCGCTGAGCATCTCGGCGG	0.602000													10	58					1.76689e-08	2.38161e-08	0.006214	1	0
BAHD1	22893	broad.mit.edu	37	15	40751681	40751681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:40751681C>T	ENST00000561234.1	+	2	1277	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	BAHD1_ENST00000416165.1_Nonsense_Mutation_p.Q340*|BAHD1_ENST00000560846.1_Nonsense_Mutation_p.Q340*			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	340	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	p.Q340*(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		TGCCCCTAAGCAGGAACTGCA	0.672000													24	48					0	0	0.002780	0	0
ATP10B	23120	broad.mit.edu	37	5	160114961	160114961	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:160114961T>C	ENST00000327245.5	-	5	967	c.121A>G	c.(121-123)Aac>Gac	p.N41D	CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	41					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.N41D(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTGTCAAGTTGTAGCTCTGT	0.542000													55	86					0	0	0.003610	0	0
ATP7B	540	broad.mit.edu	37	13	52542619	52542619	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:52542619C>A	ENST00000242839.4	-	4	1824	c.1668G>T	c.(1666-1668)atG>atT	p.M556I	ATP7B_ENST00000418097.2_Missense_Mutation_p.M556I|ATP7B_ENST00000400366.3_Missense_Mutation_p.M445I|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.M556I|ATP7B_ENST00000344297.5_Missense_Mutation_p.M556I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	556					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	p.M556N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CGTAGTCCTCCATGACTGCTG	0.522000									Wilson disease				16	23					4.14922e-12	6.21739e-12	0.004007	1	0
SLFN11	91607	broad.mit.edu	37	17	33679960	33679960	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:33679960G>T	ENST00000394566.1	-	7	2393	c.2121C>A	c.(2119-2121)acC>acA	p.T707T	SLFN11_ENST00000308377.4_Silent_p.T707T	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	707						nucleus	ATP binding	p.T707T(2)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAAGTGGCTGGTCTGAAAGT	0.493000													9	208					1.12685e-05	1.36866e-05	0.004482	1	0
RLIM	51132	broad.mit.edu	37	X	73812090	73812090	+	Missense_Mutation	SNP	C	C	A	rs61752448		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:73812090C>A	ENST00000332687.6	-	4	1278	c.1060G>T	c.(1060-1062)Gtc>Ttc	p.V354F	RLIM_ENST00000349225.2_Missense_Mutation_p.V354F	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	354					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.V354F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCATAGGTGACAGTGTTGTTT	0.473000													13	64					6.53275e-17	1.06121e-16	0.002450	1	0
DNAH9	1770	broad.mit.edu	37	17	11725916	11725916	+	Splice_Site	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:11725916G>T	ENST00000262442.3	+	47	9080	c.9012_splice	c.e47+1	p.E3004_splice	DNAH9_ENST00000454412.2_Splice_Site_p.E3004_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3004	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3004D(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGGCATTGAGGTGAGAGAGA	0.498000													24	113					1.64293e-13	2.53796e-13	0.003330	1	0
ITGAV	3685	broad.mit.edu	37	2	187533638	187533638	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:187533638G>A	ENST00000261023.3	+	25	2857	c.2583G>A	c.(2581-2583)ttG>ttA	p.L861L	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Silent_p.L825L|ITGAV_ENST00000433736.2_Silent_p.L815L|ITGAV_ENST00000474571.1_3'UTR	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	861					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	p.L861L(1)		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)		TCAACCCTTTGAGAATTAAGG	0.303000													20	81					0	0	0.012319	0	0
EPG5	57724	broad.mit.edu	37	18	43438646	43438646	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr18:43438646T>A	ENST00000282041.5	-	41	7145	c.7111A>T	c.(7111-7113)Agt>Tgt	p.S2371C	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2371					autophagy			p.S2371C(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GTCAAGTAACTGCCCAAGGTG	0.478000													5	44					0	0	0.000602	0	0
GBP1	2633	broad.mit.edu	37	1	89523879	89523879	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:89523879G>T	ENST00000370473.4	-	6	889	c.670C>A	c.(670-672)Ctc>Atc	p.L224I		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	224					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.L224I(1)		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)		CGGATACAGAGTCTGGGCAGG	0.383000													103	308					1.39695e-57	2.66691e-57	0.003610	1	0
COL19A1	1310	broad.mit.edu	37	6	70778330	70778330	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:70778330C>A	ENST00000322773.4	+	15	1288	c.1186C>A	c.(1186-1188)Caa>Aaa	p.Q396K	COL19A1_ENST00000393344.1_Missense_Mutation_p.Q18K	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	396	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.Q396*(1)|p.Q396K(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCTGGGGATACAAGGCCCCCA	0.423000													13	47					7.03913e-09	9.62235e-09	0.001368	1	0
LHX1	3975	broad.mit.edu	37	17	35298037	35298037	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:35298037G>T	ENST00000254457.5	+	3	1939	c.528G>T	c.(526-528)ctG>ctT	p.L176L	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	176					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.L176L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				ACCAGAACCTGGGCGCCAAGC	0.652000													13	40					7.03913e-09	9.62235e-09	0.001368	1	0
OR4M1	441670	broad.mit.edu	37	14	20248530	20248530	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:20248530C>G	ENST00000315957.4	+	1	130	c.49C>G	c.(49-51)Cta>Gta	p.L17V		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L17V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCACTGGCCTATCCCAGAC	0.343000													43	151					0	0	0.011902	0	0
GCN1L1	10985	broad.mit.edu	37	12	120576189	120576189	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:120576189C>A	ENST00000300648.6	-	47	6199	c.6187G>T	c.(6187-6189)Gat>Tat	p.D2063Y		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2063					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.D2063Y(1)		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)					TTCAGACCATCCAAGGCAAAC	0.542000													17	98					5.01169e-05	5.90882e-05	0.004990	1	0
PLCB4	5332	broad.mit.edu	37	20	9440414	9440414	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:9440414G>T	ENST00000378501.2	+	31	3184	c.3169G>T	c.(3169-3171)Gcc>Tcc	p.A1057S	PLCB4_ENST00000414679.2_Missense_Mutation_p.A1069S|PLCB4_ENST00000378493.1_Missense_Mutation_p.A1057S|PLCB4_ENST00000492632.1_Intron|PLCB4_ENST00000334005.3_Missense_Mutation_p.A1057S|PLCB4_ENST00000378473.3_Missense_Mutation_p.A1069S|PLCB4_ENST00000278655.4_Missense_Mutation_p.A1057S	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1057					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.A1057S(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ACTCATCAATGCCCACGAGCA	0.473000													5	17					3.59834e-05	4.26328e-05	0.001168	1	0
FCRL2	79368	broad.mit.edu	37	1	157737207	157737207	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:157737207C>A	ENST00000361516.3	-	6	1024	c.976G>T	c.(976-978)Ggc>Tgc	p.G326C	FCRL2_ENST00000392274.3_Missense_Mutation_p.G326C|FCRL2_ENST00000469986.1_Missense_Mutation_p.G73C|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	326	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	p.G326C(1)|p.G73C(1)		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)			GGGGGAGAGCCTCTCAGGGCC	0.597000													25	50					3.01185e-09	4.17624e-09	0.003954	1	0
SOCS2	8835	broad.mit.edu	37	12	93968706	93968706	+	Silent	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:93968706T>G	ENST00000340600.2	+	3	946	c.348T>G	c.(346-348)ctT>ctG	p.L116L	SOCS2_ENST00000551556.1_Silent_p.L116L|SOCS2_ENST00000549122.1_Silent_p.L116L|SOCS2_ENST00000549206.1_Silent_p.L116L|SOCS2_ENST00000536696.2_Silent_p.L116L|SOCS2_ENST00000548537.1_3'UTR	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	116	SH2.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity	p.L116L(1)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						AATCCAAGCTTAAACAATTTG	0.433000													26	27					0	0	0.003330	0	0
ARID1A	8289	broad.mit.edu	37	1	27056169	27056169	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:27056169A>C	ENST00000324856.7	+	2	1536	c.1165A>C	c.(1165-1167)Aag>Cag	p.K389Q	ARID1A_ENST00000457599.2_Missense_Mutation_p.K389Q|ARID1A_ENST00000374152.2_Missense_Mutation_p.K6Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	389					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.K389Q(1)	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)		TCAGATGGGCAAGATGAGACC	0.507000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								6	97					0	0	0.001168	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95657491	95657491	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:95657491C>A	ENST00000324972.6	+	11	1218	c.1025C>A	c.(1024-1026)tCt>tAt	p.S342Y	DYNC1I1_ENST00000437599.1_Missense_Mutation_p.S322Y|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.S325Y|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.S305Y|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.S305Y|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.S325Y	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	342					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.S342Y(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TGACAGTCCTCTGTGATGTCG	0.483000													61	132					9.53978e-28	1.73006e-27	0.003610	1	0
NFKB1	4790	broad.mit.edu	37	4	103531829	103531829	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:103531829G>A	ENST00000226574.4	+	20	2792	c.2325G>A	c.(2323-2325)acG>acA	p.T775T	NFKB1_ENST00000600343.1_Silent_p.T594T|NFKB1_ENST00000394820.4_Silent_p.T774T|NFKB1_ENST00000505458.1_Silent_p.T774T	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	774	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.T775T(1)		biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	CTGGAACCACGCCTCTAGATA	0.547000													17	61					0	0	0.004990	0	0
IRF6	3664	broad.mit.edu	37	1	209965773	209965773	+	Splice_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:209965773C>A	ENST00000367021.3	-	6	681		c.e6-1		IRF6_ENST00000542854.1_Splice_Site	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.?(2)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ATGGGAGAACCTAAAACAAAA	0.537000										HNSCC(57;0.16)			13	14					4.3838e-07	5.63632e-07	0.001855	1	0
LMBRD2	92255	broad.mit.edu	37	5	36117869	36117869	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:36117869C>A	ENST00000296603.4	-	10	1732	c.1270G>T	c.(1270-1272)Gca>Tca	p.A424S		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	424						integral to membrane		p.A424S(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTTTTTCTGCCAGCTGTATG	0.358000													6	35					0.00116845	0.00131043	0.001168	1	0
CCDC88C	440193	broad.mit.edu	37	14	91772188	91772188	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:91772188T>G	ENST00000389857.6	-	19	3364	c.3278A>C	c.(3277-3279)cAg>cCg	p.Q1093P		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1093					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	p.Q1093P(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGTCAAGATCTGGCTGCTGAA	0.587000													7	34					0	0	0.001984	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58564975	58564975	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:58564975C>G	ENST00000282326.1	+	6	1030	c.783C>G	c.(781-783)caC>caG	p.H261Q		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	261					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H261Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCGGCCGCCACCAGCCATCCC	0.627000													35	23					0	0	0.003755	0	0
ARMC3	219681	broad.mit.edu	37	10	23295898	23295898	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:23295898G>T	ENST00000298032.5	+	14	1901	c.1817G>T	c.(1816-1818)aGt>aTt	p.S606I	ARMC3_ENST00000409049.3_Missense_Mutation_p.S606I|ARMC3_ENST00000409983.3_Missense_Mutation_p.S606I|ARMC3_ENST00000376528.4_Missense_Mutation_p.S343I	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	606							binding	p.S606I(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTAATCAACAGTAAATCTTAC	0.438000													38	100					5.43694e-19	9.17127e-19	0.005524	1	0
HCRTR2	3062	broad.mit.edu	37	6	55145149	55145149	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:55145149G>C	ENST00000370862.3	+	6	1348	c.1012G>C	c.(1012-1014)Gac>Cac	p.D338H		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	338					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.D338H(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)			CCATACTGAAGACAGAGAGAC	0.368000													26	100					0	0	0.004656	0	0
ATP11B	23200	broad.mit.edu	37	3	182597421	182597421	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:182597421C>G	ENST00000323116.5	+	20	2650	c.2390C>G	c.(2389-2391)cCa>cGa	p.P797R		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	797					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.P797L(1)|p.P797R(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CGTATGGCTCCACTGCAGAAA	0.348000													9	74					0	0	0.010729	0	0
PPFIA3	8541	broad.mit.edu	37	19	49652395	49652395	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:49652395G>C	ENST00000334186.4	+	26	3604	c.3255G>C	c.(3253-3255)ttG>ttC	p.L1085F	PPFIA3_ENST00000602351.1_Missense_Mutation_p.L1076F	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1085	SAM 3.					cell surface|cytoplasm	protein binding	p.L1085F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ACCTGGCCTTGCTCCTGCAGA	0.672000													17	8					0	0	0.006122	0	0
RIN1	9610	broad.mit.edu	37	11	66099706	66099706	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:66099706C>A	ENST00000424433.2	-	10	1932	c.1795G>T	c.(1795-1797)Gag>Tag	p.E599*	RIN1_ENST00000530056.1_3'UTR|RIN1_ENST00000311320.4_3'UTR			Q13671	RIN1_HUMAN	Ras and Rab interactor 1	0	Ras and 14-3-3 protein binding region.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCAGCAGGCTCAGGGTCTCCC	0.612000													41	40					2.40579e-17	3.93897e-17	0.006230	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299290	125299290	+	Silent	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:125299290G>C	ENST00000538699.1	-	2	698	c.618C>G	c.(616-618)acC>acG	p.T206T	DCAF12L2_ENST00000360028.2_Silent_p.T206T	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	206								p.T206T(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCACAGCTACGGTGTCACTCA	0.657000													23	24					0	0	0.012319	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296388	145296388	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:145296388C>T	ENST00000342960.5	+	3	345	c.310C>T	c.(310-312)Cga>Tga	p.R104*	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	104								p.R104*(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTCTCAGGAACGAGAGCTGAC	0.493000													16	511					0	0	0.002299	0	0
BNC2	54796	broad.mit.edu	37	9	16436690	16436690	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:16436690A>G	ENST00000380672.4	-	6	1559	c.1502T>C	c.(1501-1503)aTg>aCg	p.M501T	BNC2_ENST00000380667.2_Missense_Mutation_p.M434T|BNC2_ENST00000380666.2_Missense_Mutation_p.M501T|BNC2_ENST00000545497.1_Missense_Mutation_p.M406T	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	p.M501T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATTCCTTAGCATAGGCATGTG	0.483000													24	91					0	0	0.003954	0	0
FAM109A	144717	broad.mit.edu	37	12	111801145	111801145	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:111801145C>T	ENST00000450786.2	-	2	190	c.29G>A	c.(28-30)gGc>gAc	p.G10D	FAM109A_ENST00000548163.1_Silent_p.G29G|FAM109A_ENST00000392658.5_Silent_p.G29G|FAM109A_ENST00000547838.2_Silent_p.G29G|FAM109A_ENST00000361483.3_Silent_p.G42G			Q8N4B1	SESQ1_HUMAN	family with sequence similarity 109, member A	0					endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity	p.G42G(1)|p.G29G(1)		breast(1)|endometrium(1)|lung(1)|ovary(1)	4						CCGCGTGCCGCCCACCCTTCT	0.652000													18	8					0	0	0.006122	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879293	3879293	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr18:3879293C>T	ENST00000315677.3	-	4	1371	c.776G>A	c.(775-777)tGc>tAc	p.C259Y	DLGAP1_ENST00000581527.1_Missense_Mutation_p.C259Y|DLGAP1_ENST00000584874.1_Missense_Mutation_p.C259Y|DLGAP1_ENST00000515196.2_Missense_Mutation_p.C259Y|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	259					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.C259Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCAGGTGGAGCACTTGACGTC	0.662000													9	40					0	0	0.006214	0	0
SLC52A1	55065	broad.mit.edu	37	17	4937880	4937880	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:4937880G>T	ENST00000512825.2	-	2	1433	c.22C>A	c.(22-24)Cgt>Agt	p.R8S	SLC52A1_ENST00000254853.5_Missense_Mutation_p.R8S|SLC52A1_ENST00000424747.1_Missense_Mutation_p.R8S			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	8						integral to plasma membrane	receptor activity|riboflavin transporter activity	p.R8S(1)									AGCACCAGACGGCCCAGCGTG	0.607000													24	23					3.28513e-13	5.04253e-13	0.003954	1	0
SLC2A2	6514	broad.mit.edu	37	3	170727834	170727834	+	Missense_Mutation	SNP	C	C	A	rs144125084		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:170727834C>A	ENST00000314251.3	-	4	488	c.409G>T	c.(409-411)Gtt>Ttt	p.V137F	SLC2A2_ENST00000382808.4_Missense_Mutation_p.V18F	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	137					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	p.V137F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			AGAGCTCCAACTAATGACAGA	0.338000													32	68					1.22384e-17	2.01516e-17	0.002836	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51918113	51918113	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:51918113T>A	ENST00000356298.5	-	8	1696	c.1580A>T	c.(1579-1581)cAt>cTt	p.H527L	SIGLEC10_ENST00000439889.2_Missense_Mutation_p.H469L|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.H527L|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.3_ENST00000532473.1_RNA	NM_033130.4	NP_149121.2	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	527					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.H469L(1)|p.H527L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CTGGGCCCCATGGACGTTCCA	0.662000													12	76					0	0	0.010729	0	0
ZNF536	9745	broad.mit.edu	37	19	31040234	31040234	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:31040234G>T	ENST00000355537.3	+	4	3855	c.3708G>T	c.(3706-3708)caG>caT	p.Q1236H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.Q1236H(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCACAGCCAGGGTCTTCTCC	0.672000													13	38					7.93312e-07	1.011e-06	0.002450	1	0
WDYHV1	55093	broad.mit.edu	37	8	124448786	124448786	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:124448786A>T	ENST00000523984.1	+	4	376	c.148A>T	c.(148-150)Act>Tct	p.T50S	WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000518125.1_Intron|WDYHV1_ENST00000287387.2_Missense_Mutation_p.T110S|WDYHV1_ENST00000523356.1_Missense_Mutation_p.T110S			Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	110					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	p.T110S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						CCTCTTTGACACTTATGTAGA	0.378000													23	51					0	0	0.012319	0	0
ABCC9	10060	broad.mit.edu	37	12	21960373	21960373	+	Silent	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:21960373T>C	ENST00000261200.4	-	36	4355	c.4356A>G	c.(4354-4356)ggA>ggG	p.G1452G	ABCC9_ENST00000345162.2_Silent_p.G1416G|ABCC9_ENST00000261201.4_Silent_p.G1452G	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1452	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.G1452G(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCTGTCTCTGTCCAACGCTAA	0.443000													3	78					0	0	0.004672	0	0
ABCA1	19	broad.mit.edu	37	9	107568678	107568678	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:107568678C>T	ENST00000374736.3	-	31	4702	c.4308G>A	c.(4306-4308)tgG>tgA	p.W1436*		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1436					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	p.W1436*(1)		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)	GGGCAGTGGTCCACTCTTCCT	0.562000													13	25					0	0	0.001368	0	0
MFAP4	4239	broad.mit.edu	37	17	19287945	19287945	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:19287945C>T	ENST00000395592.2	-	6	741	c.670G>A	c.(670-672)Gca>Aca	p.A224T	MFAP4_ENST00000497081.2_Missense_Mutation_p.A225T|MFAP4_ENST00000299610.4_Missense_Mutation_p.A200T	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	200	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding	p.A200T(1)|p.A224T(1)		large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GAGAGAGCTGCGCAGTTCTGC	0.572000													10	72					0	0	0.006214	0	0
PSG11	5680	broad.mit.edu	37	19	43528843	43528843	+	Splice_Site	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:43528843G>T	ENST00000401740.1	-	2	533	c.430_splice	c.e2+1	p.L144_splice	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Splice_Site_p.L144_splice|PSG11_ENST00000306322.7_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	144	Ig-like V-type.				female pregnancy	extracellular region		p.L144L(1)|p.L144M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				AATCACTTACGGTATAAGGTG	0.512000													96	82					2.22808e-73	4.27614e-73	0.003610	1	0
PPP1R26	9858	broad.mit.edu	37	9	138378181	138378181	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:138378181A>G	ENST00000356818.2	+	4	2374	c.1825A>G	c.(1825-1827)Aaa>Gaa	p.K609E	PPP1R26_ENST00000605660.1_Missense_Mutation_p.K609E|PPP1R26_ENST00000604351.1_Missense_Mutation_p.K609E|PPP1R26_ENST00000605286.1_Missense_Mutation_p.K609E|PPP1R26_ENST00000401470.3_Missense_Mutation_p.K609E|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	609						nucleolus	protein binding	p.K609E(1)									CACGCCCAAGAAAATGCAGGA	0.617000													10	50					0	0	0.008291	0	0
EVC	2121	broad.mit.edu	37	4	5721080	5721080	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:5721080A>T	ENST00000382674.2	+	2	464	c.280A>T	c.(280-282)Aag>Tag	p.K94*	EVC_ENST00000264956.6_Nonsense_Mutation_p.K94*|EVC_ENST00000509451.1_Nonsense_Mutation_p.K94*			P57679	EVC_HUMAN	Ellis van Creveld syndrome	94					muscle organ development	integral to membrane		p.K94*(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GCAGATGTCGAAGGACAAGGA	0.517000													13	105					0	0	0.001368	0	0
PROS1	5627	broad.mit.edu	37	3	93605209	93605209	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:93605209G>A	ENST00000394236.3	-	11	1610	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	PROS1_ENST00000407433.1_Missense_Mutation_p.R301W	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	432	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.R432W(1)|p.R432L(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TCCACTTTCCGAGGGAATCCT	0.378000													66	133					0	0	0.003610	0	0
ARNT2	9915	broad.mit.edu	37	15	80884026	80884026	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:80884026G>T	ENST00000533983.1	+	19	2342	c.2003G>T	c.(2002-2004)gGt>gTt	p.G668V	ARNT2_ENST00000303329.4_Missense_Mutation_p.G679V|ARNT2_ENST00000527771.1_Missense_Mutation_p.G668V			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	679					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.G679V(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CAGCAGCCCGGTCAGACTGAA	0.637000													16	68					2.23348e-06	2.79958e-06	0.004007	1	0
FRG2	448831	broad.mit.edu	37	4	190947568	190947568	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:190947568C>T	ENST00000504750.1	-	3	354	c.305G>A	c.(304-306)aGt>aAt	p.S102N	FRG2_ENST00000378763.1_Missense_Mutation_p.S101N			Q64ET8	FRG2_HUMAN	FSHD region gene 2	101						nucleus		p.S101N(1)		large_intestine(1)|lung(3)|ovary(2)|skin(1)	7		all_cancers(14;1.01e-50)|all_epithelial(14;6.7e-35)|all_lung(41;2.17e-14)|Lung NSC(41;4.95e-14)|Breast(6;3.4e-05)|Melanoma(20;0.000539)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|all_hematologic(60;0.0489)|Prostate(90;0.0513)		all cancers(3;3.83e-31)|Epithelial(3;1.36e-30)|OV - Ovarian serous cystadenocarcinoma(60;1.99e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00831)|READ - Rectum adenocarcinoma(43;0.155)		GTCCTTGGAACTCATTTTTCT	0.433000													14	60					0	0	0.003163	0	0
RTP2	344892	broad.mit.edu	37	3	187419860	187419860	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:187419860C>A	ENST00000358241.1	-	1	485	c.57G>T	c.(55-57)gaG>gaT	p.E19D		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	19					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	p.E19D(1)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GCTTTGCCACCTCCATCTTCT	0.582000													67	128					3.94896e-32	7.32657e-32	0.003610	1	0
C20orf27	54976	broad.mit.edu	37	20	3735083	3735083	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:3735083C>A	ENST00000379772.3	-	5	1195	c.385G>T	c.(385-387)Ggc>Tgc	p.G129C	C20orf27_ENST00000217195.8_Missense_Mutation_p.G154C	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	129								p.G154C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						ACACAGGTGCCAGTGCCACCT	0.617000													18	65					5.35267e-07	6.8759e-07	0.007413	1	0
SIRPB1	10326	broad.mit.edu	37	20	1552524	1552524	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:1552524T>C	ENST00000381605.4	-	3	657	c.593A>G	c.(592-594)gAc>gGc	p.D198G	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	198	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.D198G(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TCCTGCGGGGTCCACGTTGGT	0.562000													32	86					0	0	0.003271	0	0
N4BP2	55728	broad.mit.edu	37	4	40104131	40104131	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:40104131C>T	ENST00000261435.6	+	4	1082	c.666C>T	c.(664-666)aaC>aaT	p.N222N		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	222						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	p.N222N(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CAGTTTTGAACGAGTCCAAGT	0.338000													28	32					0	0	0.005443	0	0
RDH8	50700	broad.mit.edu	37	19	10132406	10132406	+	Missense_Mutation	SNP	C	C	A	rs116330337	byFrequency	TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:10132406C>A	ENST00000591589.1	+	6	1166	c.977C>A	c.(976-978)aCg>aAg	p.T326K	RDH8_ENST00000171214.1_Missense_Mutation_p.T306K			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	306					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	p.T306K(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TGCCTCCCAACGCGGGTGCGG	0.567000													15	19					1.05317e-09	1.4816e-09	0.002450	1	0
UNC5D	137970	broad.mit.edu	37	8	35647902	35647902	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:35647902A>C	ENST00000287272.2	+	16	2496	c.2476A>C	c.(2476-2478)Agt>Cgt	p.S826R	UNC5D_ENST00000453357.2_Missense_Mutation_p.S890R|UNC5D_ENST00000449677.1_Missense_Mutation_p.S471R|UNC5D_ENST00000416672.1_Missense_Mutation_p.S900R|UNC5D_ENST00000404895.2_Missense_Mutation_p.S895R|UNC5D_ENST00000420357.1_Missense_Mutation_p.S828R			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	895					apoptosis|axon guidance	integral to membrane	receptor activity	p.S890R(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CGCTACACAAAGTAGCCCATC	0.418000													8	78					0	0	0.006214	0	0
ITIH6	347365	broad.mit.edu	37	X	54783879	54783879	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:54783879G>A	ENST00000218436.6	-	8	2657	c.2628C>T	c.(2626-2628)acC>acT	p.T876T		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	876	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.T876T(1)									GGGGGTTTGGGGTCTCAGGCT	0.483000													14	187					0	0	0.001855	0	0
CCDC50	152137	broad.mit.edu	37	3	191078943	191078943	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:191078943G>A	ENST00000392455.3	+	4	923	c.325G>A	c.(325-327)Gat>Aat	p.D109N	CCDC50_ENST00000392456.3_Missense_Mutation_p.D109N	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	109						cytoplasm	protein binding	p.D109N(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GGAGAAGAAGGATGAGGTATA	0.458000													13	28					0	0	0.001855	0	0
CCDC15	80071	broad.mit.edu	37	11	124857874	124857874	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:124857874T>G	ENST00000529051.1	+	8	2011	c.1752T>G	c.(1750-1752)gaT>gaG	p.D584E	CCDC15_ENST00000344762.5_Missense_Mutation_p.D584E			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	584						centrosome		p.D584E(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AGGACCAGGATTTTCTACCCA	0.438000													39	189					0	0	0.005524	0	0
OR4C11	219429	broad.mit.edu	37	11	55371537	55371537	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:55371537A>C	ENST00000302231.4	-	1	337	c.313T>G	c.(313-315)Ttt>Gtt	p.F105V		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F105V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ATGCAGCCAAATAAATGTAGT	0.438000													3	78					0	0	0.004672	0	0
NRG3	10718	broad.mit.edu	37	10	84745048	84745048	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:84745048C>A	ENST00000372142.2	+	11	1461	c.1187C>A	c.(1186-1188)tCt>tAt	p.S396Y	NRG3_ENST00000404547.1_Missense_Mutation_p.S617Y|NRG3_ENST00000556918.1_Missense_Mutation_p.S423Y|NRG3_ENST00000545131.1_Missense_Mutation_p.S243Y|NRG3_ENST00000372141.2_Missense_Mutation_p.S593Y|NRG3_ENST00000404576.2_Missense_Mutation_p.S397Y|NRG3_ENST00000537893.1_Missense_Mutation_p.S243Y	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	617					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.S593Y(1)|p.S396Y(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCAGGGATTTCTGAAGTCAAA	0.458000													41	92					1.07121e-22	1.89753e-22	0.006999	1	0
USP15	9958	broad.mit.edu	37	12	62708623	62708623	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:62708623C>T	ENST00000280377.5	+	4	459	c.401C>T	c.(400-402)aCa>aTa	p.T134I	USP15_ENST00000393654.3_Missense_Mutation_p.T134I|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.T134I|USP15_ENST00000312635.6_Missense_Mutation_p.T134I	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	134					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.T134I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GTATATCTCACAGAATTGAAG	0.323000													51	353					0	0	0.003610	0	0
LAMB1	3912	broad.mit.edu	37	7	107600208	107600208	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:107600208G>C	ENST00000393561.1	-	17	2642	c.2458C>G	c.(2458-2460)Ccc>Gcc	p.P820A	LAMB1_ENST00000393560.1_Missense_Mutation_p.P796A|LAMB1_ENST00000222399.6_Missense_Mutation_p.P796A			P07942	LAMB1_HUMAN	laminin, beta 1	796	Laminin EGF-like 6.				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	p.P796A(1)		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)	ACCACGTTGGGCCGGCACTGG	0.537000													12	35					0	0	0.010729	0	0
FMN2	56776	broad.mit.edu	37	1	240256749	240256749	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:240256749C>A	ENST00000319653.9	+	1	1570	c.1340C>A	c.(1339-1341)cCg>cAg	p.P447Q		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	447					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P590Q(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGAGGCGGCCGGAACCCTCC	0.687000													9	65					0.00829132	0.00903997	0.008291	1	0
MX2	4600	broad.mit.edu	37	21	42774003	42774003	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr21:42774003G>T	ENST00000330714.3	+	11	1705	c.1521G>T	c.(1519-1521)caG>caT	p.Q507H	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	507					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	p.Q507H(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCGTGCATCAGTACATCCAGC	0.468000													36	22					3.03874e-20	5.21081e-20	0.003271	1	0
PLIN5	440503	broad.mit.edu	37	19	4529849	4529849	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:4529849C>A	ENST00000381848.3	-	4	366	c.286G>T	c.(286-288)Ggc>Tgc	p.G96C	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	96						lipid particle		p.G96C(1)		endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						TTGTCCAGGCCCCTGCAGGCG	0.617000													13	48					4.3838e-07	5.63632e-07	0.001855	1	0
TCHHL1	126637	broad.mit.edu	37	1	152059644	152059644	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:152059644C>T	ENST00000368806.1	-	3	578	c.514G>A	c.(514-516)Gca>Aca	p.A172T		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	172							calcium ion binding	p.A172T(1)		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)			TGTTCAGATGCTTCTCCTGGA	0.448000													40	162					0	0	0.007835	0	0
ALB	213	broad.mit.edu	37	4	74277834	74277834	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:74277834G>T	ENST00000295897.4	+	7	924	c.835G>T	c.(835-837)Gat>Tat	p.D279Y	ALB_ENST00000503124.1_Missense_Mutation_p.D129Y|ALB_ENST00000415165.2_Missense_Mutation_p.D87Y|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.D164Y|ALB_ENST00000509063.1_Missense_Mutation_p.D279Y	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	279	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.D279Y(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGAATGTGCTGATGACAGGGT	0.453000													72	97					3.41413e-29	6.22274e-29	0.003610	1	0
MEF2A	4205	broad.mit.edu	37	15	100173355	100173355	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:100173355A>G	ENST00000354410.5	+	3	660	c.31A>G	c.(31-33)Ata>Gta	p.I11V	MEF2A_ENST00000557942.1_Missense_Mutation_p.I11V|MEF2A_ENST00000338042.6_Missense_Mutation_p.I11V|MEF2A_ENST00000453228.2_Missense_Mutation_p.I11V|MEF2A_ENST00000449277.2_Missense_Mutation_p.I11V|MEF2A_ENST00000557785.1_Missense_Mutation_p.I11V|MEF2A_ENST00000558856.1_3'UTR|MEF2A_ENST00000558812.1_Missense_Mutation_p.I11V	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	11	Lys-rich (basic).|MADS-box.				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	p.I11V(3)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			AATCACACGCATAATGGATGA	0.284000													4	7					0	0	0.009096	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69107491	69107491	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:69107491G>T	ENST00000332644.5	-	2	201	c.40C>A	c.(40-42)Cta>Ata	p.L14I		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	14					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.L14I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GTAGTCCATAGTGGCCAAGAT	0.398000													36	67					5.04308e-16	8.0745e-16	0.006230	1	0
OPA1	4976	broad.mit.edu	37	3	193377302	193377302	+	Silent	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:193377302A>T	ENST00000361510.2	+	25	2706	c.2472A>T	c.(2470-2472)ccA>ccT	p.P824P	OPA1_ENST00000361150.2_Silent_p.P770P|OPA1_ENST00000361908.3_Silent_p.P806P|OPA1_ENST00000361828.2_Silent_p.P787P|OPA1_ENST00000392438.3_Silent_p.P769P|OPA1_ENST00000361715.2_Silent_p.P788P	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	769					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	p.P824P(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TGGTGGGTCCAGACTGGAAAA	0.303000													4	16					0	0	0.009096	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762771	130762771	+	Missense_Mutation	SNP	C	C	G	rs146211569		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:130762771C>G	ENST00000392429.1	+	2	3582	c.1204C>G	c.(1204-1206)Cgg>Ggg	p.R402G	TMEM200A_ENST00000545622.1_Missense_Mutation_p.R402G|TMEM200A_ENST00000296978.3_Missense_Mutation_p.R402G	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	402						integral to membrane		p.R402G(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GGACTTAGACCGGGGTCCCTC	0.502000													12	51					0	0	0.001368	0	0
TARS	6897	broad.mit.edu	37	5	33457487	33457487	+	Silent	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:33457487A>T	ENST00000265112.3	+	9	1274	c.963A>T	c.(961-963)cgA>cgT	p.R321R	TARS_ENST00000455217.2_Silent_p.R354R|TARS_ENST00000502553.1_Silent_p.R321R|TARS_ENST00000541634.1_Silent_p.R217R|TARS_ENST00000414361.2_Silent_p.R200R	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	321					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.D322Y(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CTAAAAACCGAGATCATAGGA	0.383000													19	67					0	0	0.007413	0	0
GPD2	2820	broad.mit.edu	37	2	157369881	157369881	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:157369881G>C	ENST00000310454.6	+	6	906	c.534G>C	c.(532-534)aaG>aaC	p.K178N	GPD2_ENST00000409674.1_Missense_Mutation_p.K178N|GPD2_ENST00000540309.1_Missense_Mutation_p.K178N|GPD2_ENST00000409125.4_Intron|GPD2_ENST00000438166.2_Missense_Mutation_p.K178N	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	178					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	p.K178N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						TAGGAATCAAGCTGTATGATT	0.413000													25	57					0	0	0.004656	0	0
LYST	1130	broad.mit.edu	37	1	235840794	235840794	+	Silent	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:235840794T>A	ENST00000389794.3	-	49	11100	c.10926A>T	c.(10924-10926)atA>atT	p.I3642I	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.I3642I			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3642					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.I3642I(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTAAATCCCATATGATGCAGG	0.328000													39	70					0	0	0.009718	0	0
MAX	4149	broad.mit.edu	37	14	65543306	65543306	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:65543306G>A	ENST00000358402.4	-	4	508	c.344C>T	c.(343-345)aCc>aTc	p.T115I	MAX_ENST00000284165.6_3'UTR|MAX_ENST00000358664.4_Missense_Mutation_p.T124I|MAX_ENST00000341653.2_Intron|MAX_ENST00000557277.1_Missense_Mutation_p.T61I|MAX_ENST00000555932.1_Missense_Mutation_p.P38S|MAX_ENST00000555419.1_Missense_Mutation_p.T88I	NM_145112.1	NP_660087.1	P61244	MAX_HUMAN	MYC associated factor X	124					transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.T124I(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		CTTGGCGTTGGTGTAGAGGCT	0.587000													16	135					0	0	0.004990	0	0
DPYS	1807	broad.mit.edu	37	8	105405087	105405087	+	Silent	SNP	C	C	G	rs35670436		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:105405087C>G	ENST00000351513.2	-	8	1500	c.1368G>C	c.(1366-1368)acG>acC	p.T456T	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	456					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.T456T(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CATCTCCTGCCGTGACACTGA	0.468000													29	162					0	0	0.007291	0	0
CPM	1368	broad.mit.edu	37	12	69264028	69264028	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:69264028C>G	ENST00000551568.1	-	5	643	c.583G>C	c.(583-585)Gtg>Ctg	p.V195L	CPM_ENST00000338356.3_Missense_Mutation_p.V195L|CPM_ENST00000546373.1_Missense_Mutation_p.V195L	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	195					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	p.V195L(1)		large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TAACTGGCCACGAGGGCACCA	0.498000													4	64					0	0	0.000602	0	0
EPHA7	2045	broad.mit.edu	37	6	93956565	93956565	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:93956565C>A	ENST00000369303.4	-	15	2855	c.2671G>T	c.(2671-2673)Gac>Tac	p.D891Y		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	891	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.D891Y(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATCATTTTGTCTAGAATTCCA	0.433000													22	60					3.5997e-14	5.63888e-14	0.002299	1	0
IGF2R	3482	broad.mit.edu	37	6	160482939	160482939	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:160482939G>T	ENST00000356956.1	+	25	3709	c.3561G>T	c.(3559-3561)acG>acT	p.T1187T		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1187					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.T1187T(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CCAGGATCACGTTTGAGTGTG	0.512000													9	34					3.09899e-07	4.00574e-07	0.004482	1	0
SH2B1	25970	broad.mit.edu	37	16	28883539	28883539	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:28883539G>T	ENST00000337120.5	+	6	4833	c.1542G>T	c.(1540-1542)gaG>gaT	p.E514D	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.E514D|SH2B1_ENST00000395532.4_Missense_Mutation_p.E514D|SH2B1_ENST00000538342.1_Missense_Mutation_p.E178D|SH2B1_ENST00000545570.1_Missense_Mutation_p.E204D|SH2B1_ENST00000359285.5_Missense_Mutation_p.E514D	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	514	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.E514D(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						GGGAGCCAGAGGGCGGTGAGG	0.632000													10	28					7.48243e-07	9.56932e-07	0.006214	1	0
CDH22	64405	broad.mit.edu	37	20	44828105	44828105	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:44828105C>T	ENST00000372262.3	-	7	1780	c.1380G>A	c.(1378-1380)gaG>gaA	p.E460E	CDH22_ENST00000537909.1_Silent_p.E460E	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	460	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E460E(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				AGCCGGCCGTCTCGCGGTCCA	0.632000													4	21					0	0	0.000602	0	0
GPR98	84059	broad.mit.edu	37	5	89924545	89924545	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:89924545C>T	ENST00000405460.2	+	8	1501	c.1405C>T	c.(1405-1407)Ctt>Ttt	p.L469F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	469	Calx-beta 4.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.L469F(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AACAATTCCTCTTACTGTGGT	0.483000													44	37					0	0	0.009718	0	0
FOLH1B	219595	broad.mit.edu	37	11	89395380	89395380	+	RNA	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:89395380G>A	ENST00000532352.1	+	0	778							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TGTTCATCCAGTTGGATACTA	0.363000													5	74					0	0	0.001168	0	0
CTAGE5	4253	broad.mit.edu	37	14	39818034	39818034	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:39818034G>T	ENST00000553728.1	+	27	3919	c.3706G>T	c.(3706-3708)Ggt>Tgt	p.G1236C	CTAGE5_ENST00000348007.3_Missense_Mutation_p.G658C|CTAGE5_ENST00000341749.3_Missense_Mutation_p.G689C|CTAGE5_ENST00000280083.3_Missense_Mutation_p.G701C|CTAGE5_ENST00000557038.1_Missense_Mutation_p.G621C|CTAGE5_ENST00000396158.2_Missense_Mutation_p.G706C|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.G672C|CTAGE5_ENST00000396165.4_Missense_Mutation_p.G672C|CTAGE5_ENST00000553352.1_Missense_Mutation_p.G672C|CTAGE5_ENST00000556148.1_Missense_Mutation_p.G626C|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000341502.5_Missense_Mutation_p.G701C														p.G701C(1)									TCCAATCAGAGGTCCATTGTT	0.493000													105	196					1.43847e-43	2.72819e-43	0.003610	1	0
B3GNT5	84002	broad.mit.edu	37	3	182987453	182987453	+	Translation_Start_Site	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:182987453A>T	ENST00000326505.3	+	0	397				MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_De_novo_Start_OutOfFrame|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_De_novo_Start_OutOfFrame|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5						central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTTGTAAAATAAGAAGACTTC	0.393000													3	10					0	0	0.004672	0	0
FRRS1	391059	broad.mit.edu	37	1	100174799	100174799	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:100174799A>T	ENST00000414213.1	-	16	2242	c.1641T>A	c.(1639-1641)gaT>gaA	p.D547E	FRRS1_ENST00000287474.5_Missense_Mutation_p.M538K			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	547					electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	p.M538K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		GAATTCTGTCATCATCCAATA	0.303000													8	34					0	0	0.006214	0	0
PLB1	151056	broad.mit.edu	37	2	28772895	28772895	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:28772895A>T	ENST00000422425.2	+	16	1104	c.1060A>T	c.(1060-1062)Agc>Tgc	p.S354C	PLB1_ENST00000329020.6_Missense_Mutation_p.S31C|PLB1_ENST00000327757.5_Missense_Mutation_p.S343C	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	343	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.S343C(1)|p.S354C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTATCTGTTCAGCTACAGAAA	0.463000													8	31					0	0	0.004482	0	0
SLC12A5	57468	broad.mit.edu	37	20	44673755	44673755	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:44673755G>T	ENST00000454036.1	+	12	1690	c.1614G>T	c.(1612-1614)agG>agT	p.R538S	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R515S|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	538					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.R515S(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)	CCATCTCGAGGGATGGCATTG	0.622000													18	78					6.94344e-10	9.83485e-10	0.006122	1	0
BIRC6	57448	broad.mit.edu	37	2	32715149	32715149	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:32715149A>T	ENST00000421745.2	+	43	8271	c.8137A>T	c.(8137-8139)Aat>Tat	p.N2713Y		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2713					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.N2685Y(1)|p.N2713Y(1)		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)					TTGGTATCCCAATACTTTGCT	0.343000													59	157					0	0	0.003610	0	0
ZNF304	57343	broad.mit.edu	37	19	57867973	57867973	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:57867973G>C	ENST00000391705.3	+	4	1020	c.736G>C	c.(736-738)Gct>Cct	p.A246P	ZNF304_ENST00000282286.5_Missense_Mutation_p.A246P|ZNF304_ENST00000598744.1_Missense_Mutation_p.A204P|ZNF304_ENST00000443917.2_Missense_Mutation_p.A293P	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A246P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GATGACTCATGCTGAGGTGAG	0.443000													45	26					0	0	0.010771	0	0
ALOX5	240	broad.mit.edu	37	10	45940969	45940969	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:45940969T>A	ENST00000374391.2	+	14	1912	c.1859T>A	c.(1858-1860)aTg>aAg	p.M620K	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Missense_Mutation_p.M563K	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	620	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	p.M620K(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TTCCTGGGCATGTACCCAGAA	0.557000													4	73					0	0	0.009096	0	0
SNHG14	104472715	broad.mit.edu	37	15	25436420	25436420	+	RNA	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:25436420C>A	ENST00000424208.1	+	0	1015				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						GCGTTGGGCCCACTGGCTCTG	0.637000													10	40					2.17888e-05	2.6071e-05	0.006214	1	0
AGRN	375790	broad.mit.edu	37	1	981164	981164	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:981164C>T	ENST00000379370.2	+	15	2638	c.2588C>T	c.(2587-2589)aCg>aTg	p.T863M		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	863	Laminin EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.T863M(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GAGCAGATGACGGGGCTGTGC	0.657000													11	78					0	0	0.010729	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50473421	50473421	+	RNA	SNP	C	C	G	rs67889261		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:50473421C>G	ENST00000602139.1	+	0	422									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.F131L(2)		endometrium(2)|kidney(2)|lung(6)	10						GACATAGTTTCGTGAACAATT	0.552000													28	66					0	0	0.004656	0	0
FAN1	22909	broad.mit.edu	37	15	31202973	31202973	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:31202973C>A	ENST00000362065.4	+	4	1823	c.1532C>A	c.(1531-1533)aCt>aAt	p.T511N	FAN1_ENST00000565466.1_Missense_Mutation_p.T511N|FAN1_ENST00000561594.1_Missense_Mutation_p.T511N|FAN1_ENST00000561607.1_Missense_Mutation_p.T511N	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	511					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	p.T511N(1)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TCAGTCTGCACTTGGGGCAAG	0.413000								Direct reversal of damage					22	38					8.10497e-08	1.06959e-07	0.010504	1	0
AGAP2	116986	broad.mit.edu	37	12	58128445	58128445	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:58128445G>A	ENST00000257897.3	-	3	322	c.237C>T	c.(235-237)gcC>gcT	p.A79A	AGAP2_ENST00000547588.1_Silent_p.A415A	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	415					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.A415A(1)|p.A79A(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TCCCACTCCTGGCATCGCCCA	0.527000													99	82					0	0	0.003610	0	0
PLD2	5338	broad.mit.edu	37	17	4726030	4726030	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:4726030G>T	ENST00000263088.6	+	25	2804	c.2673G>T	c.(2671-2673)ttG>ttT	p.L891F	PLD2_ENST00000572940.1_Missense_Mutation_p.L880F	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	891					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.L891F(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GTCCCCCCTTGGCTCGGTCTG	0.647000													26	31					1.39806e-14	2.21155e-14	0.008361	1	0
TTN	7273	broad.mit.edu	37	2	179605493	179605493	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:179605493T>A	ENST00000589042.1	-	48	12691	c.12467A>T	c.(12466-12468)cAg>cTg	p.Q4156L	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q3918L|TTN_ENST00000460472.2_Missense_Mutation_p.Q3793L|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q3839L|TTN_ENST00000342175.6_Missense_Mutation_p.Q3985L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3839							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q3918L(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)			TTTCTGGGACTGTACAATCTG	0.463000													17	153					0	0	0.004990	0	0
OR2L3	391192	broad.mit.edu	37	1	248224642	248224642	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:248224642T>G	ENST00000359959.3	+	1	659	c.659T>G	c.(658-660)gTt>gGt	p.V220G	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V220G(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			TATGGCCGGGTTCTCCTTGCT	0.498000													20	170					0	0	0.012319	0	0
DST	667	broad.mit.edu	37	6	56328462	56328462	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:56328462C>T	ENST00000370754.5	-	100	22766	c.22767G>A	c.(22765-22767)cgG>cgA	p.R7589R	DST_ENST00000244364.6_Silent_p.R4973R|DST_ENST00000361203.3_Silent_p.R7300R|DST_ENST00000370769.4_Silent_p.R7411R|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Silent_p.R5296R|DST_ENST00000446842.2_Silent_p.R7085R|DST_ENST00000370788.2_Silent_p.R5214R			Q03001	DYST_HUMAN	dystonin	7409					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.R4973R(1)|p.R7384R(1)		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)			GTGATGATGGCCGGGATCTTC	0.597000													108	42					0	0	0.003610	0	0
PARP11	57097	broad.mit.edu	37	12	3923203	3923203	+	Splice_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:3923203C>A	ENST00000228820.4	-	7	844	c.700_splice	c.e7+1	p.G234_splice	PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000397096.2_Splice_Site_p.D227_splice|PARP11_ENST00000427057.2_Splice_Site_p.G153_splice|PARP11_ENST00000447133.3_Splice_Site_p.G153_splice	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	227	PARP catalytic.						NAD+ ADP-ribosyltransferase activity	p.G227*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TGATAATTACCTTTTCCAAAG	0.353000													12	63					0.00136819	0.00152854	0.001368	1	0
DRD5	1816	broad.mit.edu	37	4	9783983	9783983	+	Silent	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:9783983A>T	ENST00000304374.2	+	1	726	c.330A>T	c.(328-330)ggA>ggT	p.G110G		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	110			G -> E (in dbSNP:rs2227849).		activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.G110G(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGCCCTTTGGAGCGTTCTGCG	0.612000													4	41					0	0	0.009096	0	0
TGM4	7047	broad.mit.edu	37	3	44932143	44932143	+	Missense_Mutation	SNP	C	C	A	rs148772351		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:44932143C>A	ENST00000296125.4	+	4	417	c.349C>A	c.(349-351)Caa>Aaa	p.Q117K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	117					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.Q117K(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGGCAAGTACCAACTAAACGT	0.478000													30	69					6.38683e-12	9.56045e-12	0.008361	1	0
ASTN2	23245	broad.mit.edu	37	9	119202992	119202992	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:119202992C>A	ENST00000313400.4	-	22	3778	c.3678G>T	c.(3676-3678)atG>atT	p.M1226I	ASTN2_ENST00000373996.3_Missense_Mutation_p.M1222I|ASTN2_ENST00000361477.3_Missense_Mutation_p.M278I|ASTN2_ENST00000361209.2_Missense_Mutation_p.M1175I|ASTN2_ENST00000341734.4_Missense_Mutation_p.M278I|ASTN2_ENST00000288520.5_Missense_Mutation_p.M327I			O75129	ASTN2_HUMAN	astrotactin 2	1226						integral to membrane		p.M278I(1)|p.M1175I(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTGAGACCTCCATCAGTGTGT	0.507000													54	96					1.39843e-22	2.47414e-22	0.003610	1	0
POTEF	728378	broad.mit.edu	37	2	130832437	130832437	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:130832437C>T	ENST00000357462.5	-	15	2701	c.2608G>A	c.(2608-2610)Gcc>Acc	p.A870T	POTEF_ENST00000409914.2_Missense_Mutation_p.A870T			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	870	Actin-like.					cell cortex	ATP binding	p.A870T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGGGGGAGGGCATTCCCCTCA	0.602000													6	22					0	0	0.001984	0	0
NTNG1	22854	broad.mit.edu	37	1	107937777	107937777	+	Splice_Site	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:107937777T>A	ENST00000370067.1	+	4	1516	c.887_splice	c.e4-1	p.C297_splice	NTNG1_ENST00000370070.2_Splice_Site_p.C297_splice|NTNG1_ENST00000370073.2_Splice_Site_p.C297_splice|NTNG1_ENST00000370068.1_Splice_Site_p.C297_splice|NTNG1_ENST00000370074.4_Splice_Site_p.C297_splice|NTNG1_ENST00000370065.1_Splice_Site_p.C297_splice|NTNG1_ENST00000370066.1_Splice_Site_p.C297_splice|NTNG1_ENST00000542803.1_Splice_Site_p.C297_splice|NTNG1_ENST00000370072.3_Splice_Site_p.C297_splice|NTNG1_ENST00000370071.2_Splice_Site_p.C297_splice|NTNG1_ENST00000370061.3_Splice_Site_p.C297_splice			Q9Y2I2	NTNG1_HUMAN	netrin G1	297	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding	p.C297S(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TCTGCCCAGGTGCAAGTGTAA	0.463000													79	108					0	0	0.003610	0	0
PCDH10	57575	broad.mit.edu	37	4	134071523	134071523	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:134071523C>A	ENST00000264360.4	+	1	1054	c.228C>A	c.(226-228)aaC>aaA	p.N76K		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	76	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N76K(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGTACGTGAACGAGAAAATAG	0.542000													49	39					1.23713e-20	2.12898e-20	0.003610	1	0
OR2T34	127068	broad.mit.edu	37	1	248737322	248737322	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:248737322C>A	ENST00000328782.2	-	1	758	c.737G>T	c.(736-738)tGc>tTc	p.C246F		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C246F(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGGGAGGAGCAGGTGGCCAA	0.567000													44	115					6.31075e-24	1.12476e-23	0.003610	1	0
ZBTB18	10472	broad.mit.edu	37	1	244217638	244217638	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:244217638G>T	ENST00000358704.4	+	2	711	c.562G>T	c.(562-564)Gag>Tag	p.E188*		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18									p.E179*(1)									CTTGGCGGCCGAGCCTGGGAA	0.567000													34	37					1.22384e-17	2.01516e-17	0.002836	1	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765892	171765892	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:171765892C>A	ENST00000311601.5	-	13	2387	c.2217G>T	c.(2215-2217)gtG>gtT	p.V739V	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	739	Pro-rich.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	p.V739V(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGCTCTTAGACACAGGATCTG	0.607000													27	16					9.39395e-14	1.45893e-13	0.006320	1	0
TTN	7273	broad.mit.edu	37	2	179414788	179414788	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:179414788G>T	ENST00000589042.1	-	337	92001	c.91777C>A	c.(91777-91779)Cat>Aat	p.H30593N	RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H21653N|TTN_ENST00000460472.2_Missense_Mutation_p.H21528N|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H28025N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H28952N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H21720N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28952	Fibronectin type-III 123.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.H21653N(1)|p.H28025N(1)|p.H21528N(1)|p.H28023N(1)|p.H21720N(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)			ACACCACGATGGTCCCGAGTA	0.393000													40	146					1.57019e-19	2.6673e-19	0.007835	1	0
ST18	9705	broad.mit.edu	37	8	53045816	53045816	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:53045816G>A	ENST00000276480.7	-	20	3029	c.2346C>T	c.(2344-2346)aaC>aaT	p.N782N		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	782						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N782N(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGGAAGCATAGTTTCCAGTCA	0.507000													29	31					0	0	0.009535	0	0
PROSER1	80209	broad.mit.edu	37	13	39587866	39587866	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:39587866G>C	ENST00000352251.3	-	11	2356	c.1523C>G	c.(1522-1524)tCt>tGt	p.S508C	PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.S486C	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	508	Ser-rich.							p.S508C(1)									AGAAGAGTCAGAGTTCTGAAG	0.507000													26	56					0	0	0.005443	0	0
EPB41L3	23136	broad.mit.edu	37	18	5410567	5410567	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr18:5410567C>G	ENST00000341928.2	-	14	2459	c.2119G>C	c.(2119-2121)Gag>Cag	p.E707Q	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E538Q|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E538Q|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E538Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E707Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	707	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.E707Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATACCAACCTCAGTGGCAGTG	0.537000													13	32					0	0	0.001855	0	0
OR8I2	120586	broad.mit.edu	37	11	55861600	55861600	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:55861600G>T	ENST00000302124.2	+	1	848	c.817G>T	c.(817-819)Gca>Tca	p.A273S	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A273S(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GGCGCAGGTGGCATCTGTATT	0.443000													18	65					3.41278e-10	4.86725e-10	0.004990	1	0
SLC12A9	56996	broad.mit.edu	37	7	100459533	100459533	+	Splice_Site	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:100459533G>T	ENST00000354161.3	+	12	1836	c.1711_splice	c.e12+1	p.D571_splice	SLC12A9_ENST00000428758.1_Splice_Site_p.D571_splice|SLC12A9_ENST00000540482.1_Splice_Site_p.D571_splice|SLC12A9_ENST00000275729.3_Splice_Site_p.D482_splice|SLC12A9_ENST00000415287.1_Splice_Site_p.D482_splice	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	571						integral to membrane|plasma membrane	cation:chloride symporter activity	p.D571Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGAGACCTCGGTGAGCTGCC	0.607000													11	20					3.86212e-05	4.56089e-05	0.008291	1	0
BRCA2	675	broad.mit.edu	37	13	32914849	32914849	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:32914849C>T	ENST00000544455.1	+	11	6584	c.6357C>T	c.(6355-6357)aaC>aaT	p.N2119N	BRCA2_ENST00000380152.3_Silent_p.N2119N	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2119					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.N2119N(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACTGTGTAAACTCAGAAATGG	0.328000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			10	31					0	0	0.010729	0	0
ITGA2	3673	broad.mit.edu	37	5	52370967	52370967	+	Splice_Site	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:52370967G>A	ENST00000296585.5	+	22	2884	c.2741_splice	c.e22+1	p.S914_splice		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	914					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	p.S914N(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CAAGCCTTAAGGTAAAACATA	0.313000													16	42					0	0	0.004007	0	0
TBC1D4	9882	broad.mit.edu	37	13	75884280	75884280	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:75884280C>A	ENST00000377636.3	-	14	2737	c.2391G>T	c.(2389-2391)ttG>ttT	p.L797F	TBC1D4_ENST00000425511.1_Missense_Mutation_p.L14F|TBC1D4_ENST00000431480.2_Missense_Mutation_p.L789F|TBC1D4_ENST00000377625.2_Missense_Mutation_p.L734F	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	797						cytoplasm	Rab GTPase activator activity	p.L797_D798>FY(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CGTTCCTGTCCAATCCATCTG	0.498000													17	14					3.41278e-10	4.86725e-10	0.004990	1	0
NID2	22795	broad.mit.edu	37	14	52507389	52507389	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:52507389A>T	ENST00000216286.5	-	8	2005	c.2006T>A	c.(2005-2007)cTg>cAg	p.L669Q	NID2_ENST00000541773.1_Missense_Mutation_p.L616Q	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	669	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding	p.L669Q(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GTAGTGGTACAGCTCCTTGTA	0.448000													48	85					0	0	0.003610	0	0
DAB2IP	153090	broad.mit.edu	37	9	124526082	124526082	+	Missense_Mutation	SNP	G	G	A	rs141706892	byFrequency	TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:124526082G>A	ENST00000408936.3	+	8	1566	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	DAB2IP_ENST00000309989.1_Missense_Mutation_p.A338T|DAB2IP_ENST00000259371.2_Missense_Mutation_p.A434T			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	462	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	p.A434T(1)|p.A338T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GTGCTCGGCCGCTGACCTCCC	0.577000													19	51					0	0	0.006122	0	0
MROH2B	133558	broad.mit.edu	37	5	41042216	41042216	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:41042216T>C	ENST00000399564.4	-	19	2381	c.1931A>G	c.(1930-1932)aAc>aGc	p.N644S	MROH2B_ENST00000506092.2_Missense_Mutation_p.N199S	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.N644S(1)									CCCCAGTTGGTTGGGAGCAGT	0.443000													2	10					0	0	0.004672	0	0
AP3B2	8120	broad.mit.edu	37	15	83332643	83332643	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:83332643G>T	ENST00000261722.3	-	19	2496	c.2289C>A	c.(2287-2289)ggC>ggA	p.G763G	AP3B2_ENST00000535359.1_Silent_p.G782G|AP3B2_ENST00000535348.1_Silent_p.G731G|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	763	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.G762G(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGGAATCGCTGCCCTCATCAG	0.522000													12	16					1.49906e-05	1.8071e-05	0.002450	1	0
ITPRIP	85450	broad.mit.edu	37	10	106075105	106075105	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:106075105C>A	ENST00000278071.2	-	3	1157	c.705G>T	c.(703-705)ctG>ctT	p.L235L	ITPRIP_ENST00000358187.2_Silent_p.L235L|ITPRIP_ENST00000337478.1_Silent_p.L235L	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	235						plasma membrane		p.L235L(1)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CCTGGCGATCCAGGGGCACTG	0.647000													16	37					1.15088e-07	1.50643e-07	0.004007	1	0
LGSN	51557	broad.mit.edu	37	6	63990433	63990433	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:63990433C>T	ENST00000370658.5	-	5	635	c.602G>A	c.(601-603)gGa>gAa	p.G201E	LGSN_ENST00000370657.4_Silent_p.G341G	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	0					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.G341G(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACCATTTTTTCCCAGTGATCG	0.488000													64	78					0	0	0.003610	0	0
OR51F1	256892	broad.mit.edu	37	11	4790663	4790663	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:4790663A>C	ENST00000380383.1	-	1	505	c.506T>G	c.(505-507)cTt>cGt	p.L169R	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.L162R			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	162						integral to membrane	olfactory receptor activity	p.L162R(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAGGAGCAAAAGTAGTGGCAA	0.398000													6	70					0	0	0.001168	0	0
ZNF334	55713	broad.mit.edu	37	20	45129994	45129994	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:45129994C>G	ENST00000457685.2	-	6	3193	c.1870G>C	c.(1870-1872)Gag>Cag	p.E624Q	ZNF334_ENST00000593880.1_Missense_Mutation_p.E685Q|ZNF334_ENST00000347606.4_Missense_Mutation_p.E662Q			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E662Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AATGTTTTCTCACATTTGTTA	0.358000													19	111					0	0	0.008871	0	0
OTOF	9381	broad.mit.edu	37	2	26702453	26702453	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:26702453C>A	ENST00000272371.2	-	17	2107	c.1981G>T	c.(1981-1983)Gat>Tat	p.D661Y	OTOF_ENST00000403946.3_Missense_Mutation_p.D661Y	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	661					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.D661Y(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCCTCATCCCCCGGCTCC	0.632000													7	32					0.00307968	0.00340126	0.003080	1	0
DGKI	9162	broad.mit.edu	37	7	137263044	137263044	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:137263044C>T	ENST00000453654.1	-	16	1309	c.770G>A	c.(769-771)cGt>cAt	p.R257H	DGKI_ENST00000288490.5_Missense_Mutation_p.R557H|DGKI_ENST00000446122.1_Missense_Mutation_p.R557H|DGKI_ENST00000424189.2_Missense_Mutation_p.R557H			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	557					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R557H(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATTTCGAAAACGACTGTTGAA	0.338000													4	43					0	0	0.009096	0	0
TAL1	6886	broad.mit.edu	37	1	47685464	47685464	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:47685464G>T	ENST00000371883.3	-	4	1506	c.930C>A	c.(928-930)ccC>ccA	p.P310P	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000294339.3_Silent_p.P308P|TAL1_ENST00000371884.2_Silent_p.P308P			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	308					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	p.P308P(1)		haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GTTTGGGCGCGGGCTCCTCCG	0.697000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								6	46					3.59834e-05	4.26328e-05	0.001168	1	0
LRR1	122769	broad.mit.edu	37	14	50074788	50074788	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:50074788A>G	ENST00000298288.6	+	3	1277	c.953A>G	c.(952-954)cAa>cGa	p.Q318R	LRR1_ENST00000318317.4_Intron	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	318								p.Q318R(1)		kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ATAAAGCTGCAAGCACCATTA	0.318000													10	24					0	0	0.006214	0	0
FAM184A	79632	broad.mit.edu	37	6	119327671	119327671	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:119327671C>T	ENST00000338891.7	-	7	2199	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	FAM184A_ENST00000522284.1_Missense_Mutation_p.E466K|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.E586K|FAM184A_ENST00000368475.4_Missense_Mutation_p.E466K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E466K	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	586								p.E586K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AAGTCAAGCTCATTCTGAAGC	0.428000													12	101					0	0	0.001368	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128937	68128937	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:68128937G>T	ENST00000585558.1	+	4	1202	c.814G>T	c.(814-816)Gac>Tac	p.D272Y	KCNJ16_ENST00000589377.1_Missense_Mutation_p.D237Y|KCNJ16_ENST00000586462.1_Missense_Mutation_p.D276Y|KCNJ16_ENST00000392671.1_Missense_Mutation_p.D237Y|KCNJ16_ENST00000392670.1_Missense_Mutation_p.D237Y|KCNJ16_ENST00000283936.1_Missense_Mutation_p.D237Y			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	237					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.D237N(1)|p.D237Y(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GGCATTTAAAGACCTCAAATT	0.478000													39	92					7.04047e-22	1.23507e-21	0.005524	1	0
MYO10	4651	broad.mit.edu	37	5	16685846	16685846	+	Splice_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:16685846C>A	ENST00000513610.1	-	29	4445		c.e29+1		MYO10_ENST00000427430.2_Splice_Site|MYO10_ENST00000274203.9_Splice_Site|MYO10_ENST00000515803.1_Splice_Site|MYO10_ENST00000505695.1_Splice_Site	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X						axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGCTCCCGTACCACAGCATTC	0.592000													3	12					0.00909568	0.00985762	0.009096	1	0
SYCP1	6847	broad.mit.edu	37	1	115487077	115487077	+	Splice_Site	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:115487077G>A	ENST00000369522.3	+	24	2283		c.e24+1		SYCP1_ENST00000369518.1_Splice_Site	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1						cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.?(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGGAAGAGGTGGGAAAAAC	0.264000													22	36					0	0	0.002780	0	0
CDKN1A	1026	broad.mit.edu	37	6	36653568	36653568	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:36653568G>T	ENST00000405375.1	+	3	721	c.486G>T	c.(484-486)agG>agT	p.R162S	CDKN1A_ENST00000244741.5_Missense_Mutation_p.R162S|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R162S|CDKN1A_ENST00000448526.2_Missense_Mutation_p.R196S	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	162					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	p.R162S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						TCTCCAAGAGGAAGCCCTAAT	0.572000													121	49					2.30776e-66	4.41737e-66	0.003610	1	0
TNIP2	79155	broad.mit.edu	37	4	2757801	2757801	+	Silent	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:2757801C>G	ENST00000315423.7	-	1	302	c.216G>C	c.(214-216)gcG>gcC	p.A72A	TNIP2_ENST00000510267.1_5'UTR|TNIP2_ENST00000503235.1_Silent_p.A72A	NM_024309.3	NP_077285.3	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	72						cytosol	protein binding	p.A72A(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCGGAAGCGCGCAACCTGCT	0.756000													3	6					0	0	0.004672	0	0
HAO1	54363	broad.mit.edu	37	20	7894818	7894818	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:7894818G>C	ENST00000378789.3	-	3	589	c.538C>G	c.(538-540)Caa>Gaa	p.Q180E		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	180	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	p.Q180E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TACCTGAGTTGTGGCGGCAGT	0.512000													3	51					0	0	0.004672	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170027	207170027	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:207170027A>G	ENST00000374423.3	+	5	1161	c.775A>G	c.(775-777)Agg>Ggg	p.R259G		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	259							nucleic acid binding|zinc ion binding	p.R259G(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGAATCAAATAGGAAATCTTT	0.368000													3	35					0	0	0.004672	0	0
HTR3B	9177	broad.mit.edu	37	11	113816739	113816739	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:113816739G>A	ENST00000260191.2	+	9	1463	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E	HTR3B_ENST00000537778.1_Silent_p.E391E	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	402	HA-stretch.				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	p.E402E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		ACCAACAGGAGGCAGAGTGGC	0.562000													8	33					0	0	0.004482	0	0
OR8K1	390157	broad.mit.edu	37	11	56113544	56113544	+	Silent	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:56113544G>C	ENST00000279783.2	+	1	124	c.30G>C	c.(28-30)acG>acC	p.T10T		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T10T(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ACAATCACACGGCAGTGACCA	0.373000										HNSCC(65;0.19)			6	40					0	0	0.001168	0	0
SLC17A6	57084	broad.mit.edu	37	11	22397598	22397598	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:22397598C>A	ENST00000263160.3	+	10	1682	c.1245C>A	c.(1243-1245)ttC>ttA	p.F415L		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	415					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.F415L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CAATCTCATTCTTGGTACTTG	0.393000													40	199					2.26627e-22	3.99979e-22	0.007835	1	0
EMCN	51705	broad.mit.edu	37	4	101331438	101331438	+	Splice_Site	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:101331438C>T	ENST00000296420.4	-	11	1004		c.e11+1		EMCN_ENST00000511970.1_Splice_Site|EMCN_ENST00000305864.3_Splice_Site	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin							extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		GGGAAACTTACGTAATTATTG	0.383000													16	112					0	0	0.003163	0	0
KCNB2	9312	broad.mit.edu	37	8	73848476	73848476	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:73848476G>T	ENST00000523207.1	+	3	1474	c.886G>T	c.(886-888)Gtg>Ttg	p.V296L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	296					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.V296L(1)		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)			GTTCCAAAACGTGAGGCGCGT	0.527000													10	91					0.00621372	0.00678498	0.006214	1	0
SRGAP3	9901	broad.mit.edu	37	3	9055012	9055012	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:9055012C>A	ENST00000383836.3	-	17	2554	c.2127G>T	c.(2125-2127)atG>atT	p.M709I	SRGAP3_ENST00000360413.3_Missense_Mutation_p.M685I	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	709					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.M709I(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCCCTCCAGCCATGCATTTTT	0.423000			T	RAF1	pilocytic astrocytoma								13	29					1.61879e-10	2.33164e-10	0.001368	1	0
TNR	7143	broad.mit.edu	37	1	175299314	175299314	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:175299314A>T	ENST00000367674.1	-	21	4397	c.3689T>A	c.(3688-3690)aTg>aAg	p.M1230K	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.M1230K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1230	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.M1230K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCCATCCCGCATGTCCACGCG	0.572000													6	42					0	0	0.001168	0	0
GPR171	29909	broad.mit.edu	37	3	150916837	150916837	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:150916837A>T	ENST00000309180.5	-	3	567	c.337T>A	c.(337-339)Tgt>Agt	p.C113S	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	113						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.C113S(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCTGAAGACAGCGGTCAATG	0.403000													31	59					0	0	0.007291	0	0
TPTE	7179	broad.mit.edu	37	21	10959797	10959797	+	Silent	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr21:10959797C>G	ENST00000298232.7	-	7	490	c.123G>C	c.(121-123)gtG>gtC	p.V41V	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.V59V|TPTE_ENST00000342420.5_Intron	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	59					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V41V(1)|p.V59V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTCGTGCTAACACACTTTAGC	0.328000													19	61					0	0	0.006122	0	0
CHRM3	1131	broad.mit.edu	37	1	240070921	240070921	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:240070921A>C	ENST00000255380.4	+	5	949	c.170A>C	c.(169-171)gAt>gCt	p.D57A		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	57					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.D57A(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GGTACCACCGATGACCCTCTG	0.562000													9	82					0	0	0.004482	0	0
BOD1L1	259282	broad.mit.edu	37	4	13612688	13612688	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:13612688T>C	ENST00000040738.5	-	6	1496	c.1361A>G	c.(1360-1362)cAa>cGa	p.Q454R		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	454	Lys-rich.						DNA binding	p.Q454R(1)									ATCACTAGTTTGAGTTTTTGT	0.323000													5	37					0	0	0.000602	0	0
VCX	26609	broad.mit.edu	37	X	7811752	7811752	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:7811752C>A	ENST00000381059.3	+	3	535	c.316C>A	c.(316-318)Cag>Aag	p.Q106K	VCX_ENST00000341408.4_Missense_Mutation_p.Q106K	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	106	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding	p.Q106K(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				CCCCCTGAGTCAGGAGGCCGA	0.672000													139	155					1.28261e-47	2.44218e-47	0.003610	1	0
RORA	6095	broad.mit.edu	37	15	60970880	60970880	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:60970880A>T	ENST00000335670.6	-	2	272	c.172T>A	c.(172-174)Tca>Aca	p.S58T	RORA_ENST00000560004.1_5'UTR	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	0	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.S58R(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TTCGTTACTGAGATACCTGGA	0.423000													12	54					0	0	0.001368	0	0
OR3A1	4994	broad.mit.edu	37	17	3195448	3195448	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:3195448G>T	ENST00000323404.1	-	1	428	c.429C>A	c.(427-429)gtC>gtA	p.V143V	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V143V(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						ACATCCTCTGGACTGTCTGAC	0.597000													52	55					2.14674e-31	3.9727e-31	0.003610	1	0
KCNH5	27133	broad.mit.edu	37	14	63174404	63174404	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:63174404G>T	ENST00000322893.7	-	11	3057	c.2789C>A	c.(2788-2790)gCc>gAc	p.A930D	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	930	CAD (involved in subunit assembly) (By similarity).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.A930D(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTTTTCTAGGGCAGTCATTCT	0.507000													41	131					4.92203e-23	8.74022e-23	0.006230	1	0
OCA2	4948	broad.mit.edu	37	15	28326902	28326902	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:28326902C>T	ENST00000354638.3	-	2	274	c.119G>A	c.(118-120)cGg>cAg	p.R40Q	OCA2_ENST00000353809.5_Missense_Mutation_p.R40Q|OCA2_ENST00000382996.2_Missense_Mutation_p.R40Q	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	40					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.R40Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ACCGGCTCCCCGAGGAAGCCT	0.706000									Oculocutaneous Albinism				5	37					0	0	0.000602	0	0
ASXL3	80816	broad.mit.edu	37	18	31324687	31324687	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr18:31324687G>T	ENST00000269197.5	+	12	4875	c.4875G>T	c.(4873-4875)tcG>tcT	p.S1625S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.S1625S(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TTACTCACTCGGGTTCAAGTA	0.443000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	14					5.4927e-09	7.55116e-09	0.004482	1	0
DPH2	1802	broad.mit.edu	37	1	44437304	44437304	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:44437304G>T	ENST00000255108.3	+	4	902	c.730G>T	c.(730-732)Ggt>Tgt	p.G244C	DPH2_ENST00000396758.2_Intron|DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_Missense_Mutation_p.G109C	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	244					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		p.G244C(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GTGGGCACCAGGTCAACCCTT	0.587000													7	81					0.000157383	0.000182147	0.003080	1	0
MUC17	140453	broad.mit.edu	37	7	100675478	100675478	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:100675478G>T	ENST00000306151.4	+	3	845	c.781G>T	c.(781-783)Gaa>Taa	p.E261*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	261	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.E261*(1)|p.E261Q(1)		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)					TACAACTGCTGAAGGTCCCAG	0.512000													43	285					9.9191e-30	1.81474e-29	0.008740	1	0
KMT2C	58508	broad.mit.edu	37	7	151871326	151871326	+	Splice_Site	SNP	A	A	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:151871326A>C	ENST00000355193.2	-	39	9482	c.9262_splice	c.e39-1	p.D3088_splice	KMT2C_ENST00000262189.6_Splice_Site_p.D3088_splice					lysine (K)-specific methyltransferase 2C									p.D3088E(2)									TTGCATCAAAATCTAGAAAAG	0.294000													5	50					0	0	0.000602	0	0
CADPS	8618	broad.mit.edu	37	3	62636564	62636564	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:62636564G>T	ENST00000383710.4	-	5	1510	c.1161C>A	c.(1159-1161)aaC>aaA	p.N387K	CADPS_ENST00000283269.9_Missense_Mutation_p.N387K|CADPS_ENST00000490353.2_Missense_Mutation_p.N387K|CADPS_ENST00000357948.3_Missense_Mutation_p.N387K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	387					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.N387K(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGGAGAGCTGGTTCTCACTCT	0.517000													40	56					2.95478e-19	5.00172e-19	0.008740	1	0
EPS8L2	64787	broad.mit.edu	37	11	726431	726431	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:726431G>C	ENST00000533256.1	+	20	2256	c.1881G>C	c.(1879-1881)gaG>gaC	p.E627D	EPS8L2_ENST00000318562.8_Missense_Mutation_p.E627D|EPS8L2_ENST00000530636.1_Missense_Mutation_p.E627D|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Missense_Mutation_p.E643D			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	627						cytoplasm		p.E627D(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCACCTACGAGTCGGGTCCGG	0.706000													4	3					0	0	0.000602	0	0
VPS52	6293	broad.mit.edu	37	6	33236392	33236392	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:33236392A>T	ENST00000445902.2	-	7	801	c.583T>A	c.(583-585)Ttc>Atc	p.F195I	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.F70I	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	195					protein transport	endosome membrane|Golgi apparatus		p.F195I(1)		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						TGCTCCAAGAACCTGGGCTCT	0.592000													7	50					0	0	0.003080	0	0
GUF1	60558	broad.mit.edu	37	4	44693729	44693729	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:44693729G>C	ENST00000281543.5	+	13	1720	c.1526G>C	c.(1525-1527)aGa>aCa	p.R509T	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	509					translation	mitochondrial inner membrane	GTP binding|GTPase activity	p.R509T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						GATCAAAATAGAGTTATGCTT	0.308000													27	191					0	0	0.005443	0	0
EVC2	132884	broad.mit.edu	37	4	5664911	5664911	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:5664911C>G	ENST00000310917.2	-	9	1559	c.828G>C	c.(826-828)gaG>gaC	p.E276D	EVC2_ENST00000344408.5_Missense_Mutation_p.E356D|EVC2_ENST00000344938.1_Missense_Mutation_p.E356D	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	356						integral to membrane		p.E356D(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GGGAAAGGTCCTCATTCACGC	0.458000													55	50					0	0	0.003610	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361064	105361064	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:105361064G>T	ENST00000297581.2	+	2	333	c.284G>T	c.(283-285)aGg>aTg	p.R95M	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.R95M|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	95					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.R95M(1)									CGTGAAGGCAGGAATGCTTTG	0.458000													18	55					1.67942e-08	2.27215e-08	0.006122	1	0
TENM1	10178	broad.mit.edu	37	X	123539001	123539001	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:123539001G>T	ENST00000422452.2	-	27	5334	c.5271C>A	c.(5269-5271)aaC>aaA	p.N1757K	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.N1750K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.N1752K(1)									CCAGGGTAGGGTTGACTGCCC	0.567000													50	48					3.68337e-26	6.61364e-26	0.003610	1	0
OR10A2	341276	broad.mit.edu	37	11	6891205	6891205	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:6891205G>T	ENST00000307322.4	+	1	282	c.220G>T	c.(220-222)Gcc>Tcc	p.A74S		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A74S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GACCCTGCTTGCCCAGGACAC	0.493000													62	97					4.49761e-31	8.31256e-31	0.003610	1	0
CD207	50489	broad.mit.edu	37	2	71058202	71058202	+	Silent	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:71058202G>C	ENST00000410009.3	-	6	1011	c.966C>G	c.(964-966)ccC>ccG	p.P322P		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	322					defense response to virus	endocytic vesicle|integral to membrane	mannose binding	p.P322P(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						ATGGGACATAGGGTCGCTTAC	0.483000													8	23					0	0	0.004482	0	0
PNPLA1	285848	broad.mit.edu	37	6	36269959	36269959	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:36269959T>C	ENST00000394571.2	+	6	1097	c.1097T>C	c.(1096-1098)cTa>cCa	p.L366P	PNPLA1_ENST00000312917.5_Missense_Mutation_p.L280P|PNPLA1_ENST00000388715.3_Missense_Mutation_p.L271P	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	366	Pro-rich.				lipid catabolic process		hydrolase activity	p.L271P(1)|p.L366P(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCACTTTCTCTAAGTGGCATG	0.557000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	103					0	0	0.004672	0	0
KLF8	11279	broad.mit.edu	37	X	56291841	56291841	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:56291841C>A	ENST00000374928.3	+	4	796	c.310C>A	c.(310-312)Cta>Ata	p.L104I	KLF8_ENST00000468660.1_Missense_Mutation_p.L104I	NM_001159296.1	NP_001152768.1	O95600	KLF8_HUMAN	Kruppel-like factor 8	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L104I(1)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						TGCTAGCATGCTACAAGCTCC	0.532000													27	48					3.6726e-16	5.89978e-16	0.003954	1	0
FAM9A	171482	broad.mit.edu	37	X	8761700	8761700	+	Splice_Site	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:8761700T>C	ENST00000543214.1	-	8	1064	c.930_splice	c.e8+1	p.K310_splice	FAM9A_ENST00000381003.3_Splice_Site_p.K310_splice	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	310						nucleolus		p.K310R(1)		endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				AGAACAGACCTTTAGTAATTG	0.378000													11	63					0	0	0.010729	0	0
INPP1	3628	broad.mit.edu	37	2	191224995	191224995	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:191224995T>A	ENST00000392329.2	+	3	867	c.167T>A	c.(166-168)cTg>cAg	p.L56Q	INPP1_ENST00000541441.1_Missense_Mutation_p.L56Q|INPP1_ENST00000322522.4_Missense_Mutation_p.L56Q|INPP1_ENST00000417336.1_3'UTR	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	56					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding	p.L56Q(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	GCTGATGTACTGGTACAGGAA	0.428000													4	46					0	0	0.000602	0	0
MYH4	4622	broad.mit.edu	37	17	10348311	10348311	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:10348311G>C	ENST00000255381.2	-	37	5558	c.5448C>G	c.(5446-5448)atC>atG	p.I1816M	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1816					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.I1816M(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCAGTTTCTGGATCTGCTTCT	0.537000													4	167					0	0	0.009096	0	0
NDUFA10	4705	broad.mit.edu	37	2	240961674	240961674	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:240961674C>A	ENST00000252711.2	-	2	259	c.159G>T	c.(157-159)ctG>ctT	p.L53L	NDUFA10_ENST00000407129.3_Silent_p.L53L|NDUFA10_ENST00000404554.1_Silent_p.L53L|NDUFA10_ENST00000307300.4_Silent_p.L53L	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	53					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	p.L53L(1)		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)	TGCGTTCTGTCAGTCTTTTGC	0.393000													27	49					8.24728e-16	1.31611e-15	0.004656	1	0
OCRL	4952	broad.mit.edu	37	X	128722861	128722861	+	Splice_Site	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:128722861A>T	ENST00000371113.4	+	22	2506		c.e22-1		OCRL_ENST00000357121.5_Splice_Site	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	p.?(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AAGTTGATTCAGCTGGCAGCA	0.532000													14	75					0	0	0.003163	0	0
OR13G1	441933	broad.mit.edu	37	1	247835734	247835734	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:247835734C>A	ENST00000359688.2	-	1	631	c.610G>T	c.(610-612)Gcc>Tcc	p.A204S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A204S(1)		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)			TCCCCTATGGCCAGGGTAATA	0.458000													13	81					9.31168e-06	1.13479e-05	0.001855	1	0
BRINP2	57795	broad.mit.edu	37	1	177247898	177247898	+	Silent	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:177247898T>A	ENST00000361539.4	+	7	1524	c.1212T>A	c.(1210-1212)ccT>ccA	p.P404P	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		404						extracellular region		p.P404P(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ATCGCCAGCCTCGCTTCCGCC	0.617000													28	27					0	0	0.007291	0	0
CTNND2	1501	broad.mit.edu	37	5	11117571	11117571	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:11117571G>T	ENST00000304623.8	-	13	2457	c.2268C>A	c.(2266-2268)atC>atA	p.I756I	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.I665I|CTNND2_ENST00000503622.1_Silent_p.I419I|CTNND2_ENST00000359640.2_Silent_p.I756I|CTNND2_ENST00000458100.2_Silent_p.I323I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	756					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.I756I(4)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCTTGCTATCGATCTCACTGC	0.527000													51	127					7.05377e-20	1.20815e-19	0.003610	1	0
RP1L1	94137	broad.mit.edu	37	8	10470762	10470762	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:10470762G>T	ENST00000382483.3	-	4	1069	c.846C>A	c.(844-846)aaC>aaA	p.N282K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	282					intracellular signal transduction			p.N282K(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCACCGGGGGGTTGCTAGGAC	0.667000													6	60					1.06961e-07	1.40769e-07	0.003080	1	0
PLEKHG4B	153478	broad.mit.edu	37	5	143241	143241	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:143241G>T	ENST00000283426.6	+	2	539	c.489G>T	c.(487-489)gtG>gtT	p.V163V		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	163					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.V163V(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTTCCGATGTGCCTGCCCGGC	0.652000													48	118					1.35964e-18	2.28023e-18	0.003610	1	0
TIAM1	7074	broad.mit.edu	37	21	32525394	32525394	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr21:32525394G>T	ENST00000286827.3	-	19	3701	c.3230C>A	c.(3229-3231)aCc>aAc	p.T1077N	TIAM1_ENST00000541036.1_Missense_Mutation_p.T1017N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1077	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.T1077N(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTCATCCTGGGTGAGAAAAGT	0.373000													55	50					3.88204e-17	6.33454e-17	0.003610	1	0
TUBGCP2	10844	broad.mit.edu	37	10	135103475	135103475	+	Splice_Site	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:135103475T>A	ENST00000368563.2	-	9	1571		c.e9-2		TUBGCP2_ENST00000543663.1_Splice_Site|TUBGCP2_ENST00000417178.2_Splice_Site|TUBGCP2_ENST00000368562.1_5'UTR|TUBGCP2_ENST00000252936.3_Splice_Site	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2						G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	p.?(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		ATAAACTCACTAAAACCACAG	0.592000													14	42					0	0	0.003163	0	0
LPAL2	80350	broad.mit.edu	37	6	160903769	160903769	+	RNA	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:160903769G>A	ENST00000335388.5	-	0	1114					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TTCTTCCTGTGACAGTGGTGA	0.473000													68	409					0	0	0.003610	0	0
GLRA1	2741	broad.mit.edu	37	5	151271897	151271897	+	Silent	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:151271897A>G	ENST00000274576.4	-	2	451	c.159T>C	c.(157-159)gaT>gaC	p.D53D	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Intron|GLRA1_ENST00000455880.2_Silent_p.D53D	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	53					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	p.D53D(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGATCCTGGCATCATATCCGG	0.493000													14	54					0	0	0.002450	0	0
SI	6476	broad.mit.edu	37	3	164785251	164785251	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:164785251T>C	ENST00000264382.3	-	6	574	c.512A>G	c.(511-513)gAa>gGa	p.E171G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	171	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.E171G(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATGAGGAACTTCATATCTTCT	0.328000										HNSCC(35;0.089)			19	126					0	0	0.008871	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250429	140250429	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:140250429C>A	ENST00000398640.2	+	1	1741	c.1741C>A	c.(1741-1743)Ccg>Acg	p.P581T	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1												p.P581T(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCTAGTACCGCGGTCGGT	0.657000													20	88					2.37509e-13	3.65729e-13	0.010504	1	0
KCNV1	27012	broad.mit.edu	37	8	110980547	110980547	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:110980547C>G	ENST00000524391.1	-	4	2305	c.1273G>C	c.(1273-1275)Gct>Cct	p.A425P	KCNV1_ENST00000297404.1_Missense_Mutation_p.A425P			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	425						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.A425P(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TTAATAATAGCAATAGGCAAG	0.443000													50	67					0	0	0.003610	0	0
CELF2	10659	broad.mit.edu	37	10	11299746	11299746	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:11299746G>T	ENST00000379261.4	+	5	520	c.428G>T	c.(427-429)tGt>tTt	p.C143F	CELF2_ENST00000399850.3_Missense_Mutation_p.C119F|CELF2_ENST00000542579.1_Missense_Mutation_p.C150F|CELF2_ENST00000354897.3_Missense_Mutation_p.C119F|CELF2_ENST00000416382.2_Missense_Mutation_p.C143F|CELF2_ENST00000417956.2_Missense_Mutation_p.C119F|CELF2_ENST00000537122.1_Missense_Mutation_p.C32F|CELF2_ENST00000450189.1_Missense_Mutation_p.C150F|CELF2_ENST00000315874.3_Missense_Mutation_p.C119F|CELF2_ENST00000354440.2_Missense_Mutation_p.C119F|CELF2_ENST00000427450.1_Missense_Mutation_p.C119F	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	143	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	p.C138F(1)|p.C143F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TCGAAGAAATGTAATGAGAAC	0.433000													34	38					5.91797e-21	1.02573e-20	0.012213	1	0
PCDHGB1	56104	broad.mit.edu	37	5	140729929	140729929	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:140729929G>A	ENST00000523390.1	+	1	102	c.102G>A	c.(100-102)acG>acA	p.T34T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1												p.T34T(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGATACACGATTCCAGAGG	0.552000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	11					0	0	0.003080	0	0
CALB1	793	broad.mit.edu	37	8	91081256	91081256	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:91081256G>C	ENST00000265431.3	-	5	523	c.342C>G	c.(340-342)caC>caG	p.H114Q	CALB1_ENST00000518457.1_Missense_Mutation_p.H57Q	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	114	EF-hand 3.					nucleus	calcium ion binding|vitamin D binding	p.H114Q(1)		breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TGAAGCCACTGTGGTCAGTAT	0.318000													5	37					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179580223	179580223	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:179580223T>G	ENST00000589042.1	-	89	26142	c.25918A>C	c.(25918-25920)Aaa>Caa	p.K8640Q	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K7396Q|TTN_ENST00000591111.1_Missense_Mutation_p.K8323Q|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8323	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K7396Q(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)			CGCTGACCTTTAACTTTTAAG	0.458000													12	60					0	0	0.010729	0	0
LY86	9450	broad.mit.edu	37	6	6654824	6654824	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:6654824C>A	ENST00000379953.2	+	6	805	c.453C>A	c.(451-453)acC>acA	p.T151T	LY86_ENST00000230568.4_Silent_p.T151T			O95711	LY86_HUMAN	lymphocyte antigen 86	151					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane		p.T151T(1)		large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					AACGGTCCACCGTGGCCTGTG	0.517000													40	10					3.76604e-16	6.04318e-16	0.010771	1	0
DPP10	57628	broad.mit.edu	37	2	116101469	116101469	+	Silent	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:116101469A>G	ENST00000410059.1	+	3	732	c.252A>G	c.(250-252)ccA>ccG	p.P84P	DPP10_ENST00000310323.8_Silent_p.P77P|DPP10_ENST00000409163.1_Silent_p.P34P|DPP10_ENST00000393147.2_Silent_p.P88P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	84					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.P77P(1)|p.P84P(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTCACGATCCAGAGGCTCGGT	0.333000													14	37					0	0	0.002450	0	0
GLI3	2737	broad.mit.edu	37	7	42004503	42004503	+	Missense_Mutation	SNP	C	C	A	rs142696576		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:42004503C>A	ENST00000395925.3	-	15	4252	c.4168G>T	c.(4168-4170)Ggg>Tgg	p.G1390W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1390					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G1390W(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTGCTGCCCCCAAAGCTGGCA	0.617000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				23	36					1.1804e-14	1.86928e-14	0.003954	1	0
CDH10	1008	broad.mit.edu	37	5	24537756	24537756	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:24537756C>A	ENST00000264463.4	-	3	766	c.259G>T	c.(259-261)Gga>Tga	p.G87*		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	87	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G87*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTGAGTGATCCATCTCCTTTA	0.373000										HNSCC(23;0.051)			13	39					9.31168e-06	1.13479e-05	0.001855	1	0
LEPROT	54741	broad.mit.edu	37	1	65897500	65897500	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:65897500C>T	ENST00000371065.4	+	4	432	c.294C>T	c.(292-294)gcC>gcT	p.A98A	LEPR_ENST00000371060.3_Intron|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000349533.6_Intron|LEPR_ENST00000344610.8_Intron|LEPR_ENST00000371059.3_Intron	NM_001198681.1|NM_017526.4	NP_001185610.1|NP_059996.1	O15243	OBRG_HUMAN	leptin receptor overlapping transcript	98						endosome membrane|Golgi membrane|integral to plasma membrane		p.A98A(1)		kidney(1)|large_intestine(1)|lung(5)	7				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AATGGGGAGCCTGCGGCCTTG	0.393000													5	55					0	0	0.000602	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	162015	162015	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:162015G>T	ENST00000283426.6	+	10	1587	c.1537G>T	c.(1537-1539)Gga>Tga	p.G513*		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	513					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.G513*(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTGCAGGGAGGGAGAGCTGGC	0.632000													12	27					5.16669e-11	7.53172e-11	0.010729	1	0
VWA3A	146177	broad.mit.edu	37	16	22144268	22144268	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:22144268C>A	ENST00000389398.5	+	20	2016	c.1920C>A	c.(1918-1920)ctC>ctA	p.L640L	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	640	VWFA 1.					extracellular region		p.L640L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCTGCGACCTCCAGCTGAACG	0.622000													10	28					0.00621372	0.00678498	0.006214	1	0
MEDAG	84935	broad.mit.edu	37	13	31495871	31495871	+	Silent	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:31495871A>T	ENST00000380482.4	+	4	1000	c.675A>T	c.(673-675)tcA>tcT	p.S225S	TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000585870.1_RNA	NM_032849.3	NP_116238.2			mesenteric estrogen-dependent adipogenesis									p.S225S(1)									TGAATTTGTCAAGTACAAGTC	0.358000													20	33					0	0	0.008871	0	0
CLVS2	134829	broad.mit.edu	37	6	123319273	123319273	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:123319273G>A	ENST00000275162.4	+	2	1686	c.351G>A	c.(349-351)aaG>aaA	p.K117K	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	117	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.K117K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ATGGCAGGAAGATTCTAGTCC	0.483000													40	51					0	0	0.008740	0	0
TMPPE	643853	broad.mit.edu	37	3	33135177	33135177	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:33135177C>T	ENST00000342462.4	-	2	701	c.511G>A	c.(511-513)Gga>Aga	p.G171R	GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.G34R|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000307377.8_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	171						integral to membrane	metal ion binding	p.G171R(1)		breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GCAGTCACTCCCACTGCCAGG	0.632000													5	27					0	0	0.000602	0	0
FBLN2	2199	broad.mit.edu	37	3	13669343	13669343	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:13669343T>A	ENST00000404922.3	+	11	2562	c.2443T>A	c.(2443-2445)Tgt>Agt	p.C815S	FBLN2_ENST00000295760.7_Missense_Mutation_p.C768S|FBLN2_ENST00000535798.1_Missense_Mutation_p.C794S|FBLN2_ENST00000492059.1_Missense_Mutation_p.C815S	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	814	EGF-like 5; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.C234S(1)|p.C815S(1)		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)			CGTGGATGAGTGTGCGATGGG	0.647000													5	35					0	0	0.000602	0	0
OR8H2	390151	broad.mit.edu	37	11	55872600	55872600	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:55872600C>A	ENST00000313503.1	+	1	82	c.82C>A	c.(82-84)Ctg>Atg	p.L28M		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L28M(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CCAGATGGCTCTGTTTATGCT	0.438000										HNSCC(53;0.14)			35	189					1.62565e-12	2.45627e-12	0.012213	1	0
SLC10A2	6555	broad.mit.edu	37	13	103718394	103718394	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:103718394C>T	ENST00000245312.3	-	1	802	c.206G>A	c.(205-207)tGt>tAt	p.C69Y		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	69					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.C69Y(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAAGCCAACACAAATGCCCCA	0.532000													17	87					0	0	0.004007	0	0
ZBTB26	57684	broad.mit.edu	37	9	125682049	125682049	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:125682049G>A	ENST00000373656.3	-	2	238	c.165C>T	c.(163-165)tcC>tcT	p.S55S	ZBTB26_ENST00000373654.1_Silent_p.S55S	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	55	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S55S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TTAAGAAGGGGGAACCTGCAG	0.363000													28	37					0	0	0.004656	0	0
ETV3L	440695	broad.mit.edu	37	1	157068577	157068577	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:157068577G>T	ENST00000454449.2	-	3	691	c.407C>A	c.(406-408)gCg>gAg	p.A136E		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	136						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A136V(1)|p.A136E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGATGGCGGCGCCCGCACTTC	0.582000													91	67					7.68447e-34	1.4349e-33	0.003610	1	0
MMP16	4325	broad.mit.edu	37	8	89180170	89180170	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:89180170G>T	ENST00000286614.6	-	4	718	c.437C>A	c.(436-438)cCt>cAt	p.P146H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	146					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.P146H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ACGAGTCTCAGGGTCTCCTAC	0.368000													5	40					0.000602214	0.000681726	0.000602	1	0
ERBB4	2066	broad.mit.edu	37	2	212812268	212812268	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:212812268C>A	ENST00000342788.4	-	3	618	c.308G>T	c.(307-309)cGc>cTc	p.R103L	ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Missense_Mutation_p.R103L|ERBB4_ENST00000436443.1_Missense_Mutation_p.R103L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	103					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.R103L(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACGAATAATGCGTAAATTCTC	0.398000										TSP Lung(8;0.080)			12	49					0.000978159	0.00110043	0.010729	1	0
POLE	5426	broad.mit.edu	37	12	133218912	133218912	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:133218912C>T	ENST00000320574.5	-	38	5067	c.5024G>A	c.(5023-5025)cGc>cAc	p.R1675H	POLE_ENST00000535270.1_Missense_Mutation_p.R1648H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1675					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.R1675H(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTGGAGGTGGCGGGCAAAGAA	0.597000								DNA polymerases (catalytic subunits)					27	24					0	0	0.004656	0	0
DAB1	1600	broad.mit.edu	37	1	57481056	57481056	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:57481056G>T	ENST00000371236.2	-	12	1207	c.944C>A	c.(943-945)cCc>cAc	p.P315H	DAB1_ENST00000414851.2_Missense_Mutation_p.P297H|DAB1_ENST00000371231.1_Missense_Mutation_p.P348H|DAB1_ENST00000420954.2_Missense_Mutation_p.P313H|DAB1_ENST00000439789.2_Missense_Mutation_p.P229H|DAB1_ENST00000371234.4_Missense_Mutation_p.P315H|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	348					cell differentiation|nervous system development			p.P315H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TTGGACGAGGGGCTGCTGACC	0.612000													20	57					1.55795e-14	2.45376e-14	0.012319	1	0
PNMA5	114824	broad.mit.edu	37	X	152159024	152159024	+	Silent	SNP	A	A	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:152159024A>C	ENST00000439251.1	-	2	1557	c.1119T>G	c.(1117-1119)tcT>tcG	p.S373S	PNMA5_ENST00000535214.1_Silent_p.S373S|PNMA5_ENST00000361887.5_Silent_p.S373S|PNMA5_ENST00000452693.1_Silent_p.S373S	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	373					apoptosis			p.S373S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCGCTAAAAGACCTTGCCT	0.592000													8	91					0	0	0.003080	0	0
ANKRD12	23253	broad.mit.edu	37	18	9216825	9216825	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr18:9216825G>C	ENST00000383440.2	+	6	910	c.653G>C	c.(652-654)gGa>gCa	p.G218A	ANKRD12_ENST00000400020.3_Missense_Mutation_p.G218A|ANKRD12_ENST00000262126.3_Missense_Mutation_p.G241A|ANKRD12_ENST00000540578.2_3'UTR	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	241						nucleus		p.G241A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATAGCAGCTGGAGCAGATGTT	0.363000													15	62					0	0	0.004990	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93390350	93390350	+	Silent	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:93390350A>T	ENST00000238994.5	-	2	372	c.288T>A	c.(286-288)acT>acA	p.T96T		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	96							protein serine/threonine phosphatase activity	p.T96T(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				CATGGATCGCAGTGAGAGAGA	0.483000													9	78					0	0	0.004482	0	0
TRIP6	7205	broad.mit.edu	37	7	100468219	100468219	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:100468219G>T	ENST00000200457.4	+	6	1213	c.853G>T	c.(853-855)Gat>Tat	p.D285Y		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	285	LIM zinc-binding 1.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	p.D285Y(1)		breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTGCGGAGAAGATGTGGTTGG	0.607000													24	55					1.77063e-15	2.81939e-15	0.005443	1	0
FN1	2335	broad.mit.edu	37	2	216284007	216284007	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:216284007C>A	ENST00000354785.4	-	12	2146	c.1777G>T	c.(1777-1779)Ggc>Tgc	p.G593C	FN1_ENST00000432072.2_Missense_Mutation_p.G593C|FN1_ENST00000357867.4_Missense_Mutation_p.G593C|FN1_ENST00000443816.1_Missense_Mutation_p.G593C|FN1_ENST00000446046.1_Missense_Mutation_p.G593C|FN1_ENST00000359671.1_Missense_Mutation_p.G593C|FN1_ENST00000357009.2_Missense_Mutation_p.G593C|FN1_ENST00000356005.4_Missense_Mutation_p.G593C|FN1_ENST00000346544.3_Missense_Mutation_p.G593C|FN1_ENST00000323926.6_Missense_Mutation_p.G593C|FN1_ENST00000421182.1_Missense_Mutation_p.G593C|FN1_ENST00000426059.1_Missense_Mutation_p.G593C|FN1_ENST00000345488.5_Missense_Mutation_p.G593C|FN1_ENST00000336916.4_Missense_Mutation_p.G593C			P02751	FINC_HUMAN	fibronectin 1	593	Collagen-binding.|Fibronectin type-I 9.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.G593F(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCCCAATGCCACGGCCATAG	0.463000													15	53					4.96729e-08	6.60937e-08	0.008871	1	0
ETFB	2109	broad.mit.edu	37	19	51857775	51857775	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:51857775C>G	ENST00000354232.4	-	1	2585	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	CTD-2616J11.11_ENST00000600067.1_Intron|ETFB_ENST00000309244.4_Intron	NM_001014763.1	NP_001014763.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	0					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity	p.E40Q(1)		kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		TCCAGCCATTCCTGGGTACCA	0.522000													3	104					0	0	0.009096	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128886270	128886270	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:128886270C>G	ENST00000371106.3	+	10	1158	c.966C>G	c.(964-966)atC>atG	p.I322M		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	322					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	p.I322M(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						ATGTGAGGATCTGGATTGGGA	0.527000													17	93					0	0	0.008871	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320124	79320124	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:79320124C>A	ENST00000428286.1	-	8	7189	c.5989G>T	c.(5989-5991)Gta>Tta	p.V1997L	PRUNE2_ENST00000376718.3_Missense_Mutation_p.V2356L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2356					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.V2356L(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGGCCCATTACATCATATTCA	0.483000													41	194					2.00842e-17	3.29581e-17	0.010771	1	0
OR5L2	26338	broad.mit.edu	37	11	55595192	55595192	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:55595192C>A	ENST00000378397.1	+	1	498	c.498C>A	c.(496-498)atC>atA	p.I166I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I166I(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTCTTAGGATCCTCTTCTATA	0.478000										HNSCC(27;0.073)			79	100					1.15773e-35	2.17299e-35	0.003610	1	0
OR6K3	391114	broad.mit.edu	37	1	158686969	158686969	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:158686969G>T	ENST00000368146.1	-	1	984	c.985C>A	c.(985-987)Cct>Act	p.P329T	OR6K3_ENST00000368145.1_Missense_Mutation_p.P313T			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	329					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P329T(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)					TAACCTCCAGGCTTGTTCAAC	0.408000													9	117					2.17888e-05	2.6071e-05	0.006214	1	0
GTDC1	79712	broad.mit.edu	37	2	144966234	144966234	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:144966234G>C	ENST00000409214.1	-	4	393	c.115C>G	c.(115-117)Cat>Gat	p.H39D	GTDC1_ENST00000241391.5_Missense_Mutation_p.H39D|GTDC1_ENST00000392869.1_Missense_Mutation_p.H39D|GTDC1_ENST00000344850.4_Missense_Mutation_p.H39D|GTDC1_ENST00000542155.1_Missense_Mutation_p.H39D|GTDC1_ENST00000463875.2_Intron|GTDC1_ENST00000409298.1_Missense_Mutation_p.H39D|GTDC1_ENST00000392867.3_Missense_Mutation_p.H39D	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	39					biosynthetic process		transferase activity, transferring glycosyl groups	p.H39D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GCTCTCCAATGCCATTTCTTT	0.433000													9	75					0	0	0.004482	0	0
WDR91	29062	broad.mit.edu	37	7	134879797	134879797	+	Silent	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:134879797T>A	ENST00000354475.4	-	9	1315	c.1284A>T	c.(1282-1284)gtA>gtT	p.V428V	WDR91_ENST00000344400.5_Silent_p.V428V|WDR91_ENST00000423565.1_Silent_p.V393V	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	428								p.V428V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGACCCCATCTACGTCTAAGC	0.537000													3	23					0	0	0.004672	0	0
PSMA3	5684	broad.mit.edu	37	14	58730469	58730469	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:58730469C>T	ENST00000216455.4	+	7	614	c.524C>T	c.(523-525)aCg>aTg	p.T175M	PSMA3_ENST00000412908.2_Missense_Mutation_p.T168M|PSMA3_ENST00000557508.1_Missense_Mutation_p.T100M	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	175					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	p.T175M(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						GCTGCAAAGACGGAAATAGAG	0.348000													5	60					0	0	0.001984	0	0
PIGR	5284	broad.mit.edu	37	1	207107960	207107960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:207107960G>A	ENST00000356495.4	-	6	1693	c.1510C>T	c.(1510-1512)Cag>Tag	p.Q504*		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	504	Ig-like V-type 5.					extracellular region|integral to plasma membrane	protein binding	p.Q504*(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCAGGGCCTGGCAGCCCGTG	0.587000													18	77					0	0	0.004990	0	0
DACT1	51339	broad.mit.edu	37	14	59113737	59113737	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:59113737C>A	ENST00000395153.3	+	4	2432	c.2285C>A	c.(2284-2286)cCa>cAa	p.P762Q	DACT1_ENST00000335867.4_Missense_Mutation_p.P799Q|DACT1_ENST00000395151.3_Missense_Mutation_p.P518Q|DACT1_ENST00000541264.2_Missense_Mutation_p.P518Q|DACT1_ENST00000556859.1_Missense_Mutation_p.P518Q	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	799					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.P799Q(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GTAACGGCCCCAGACCTTCAC	0.512000													29	79					7.01153e-11	1.01903e-10	0.007291	1	0
GCN1L1	10985	broad.mit.edu	37	12	120586150	120586150	+	Splice_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:120586150C>A	ENST00000300648.6	-	37	4559	c.4546_splice	c.e37-1	p.G1516_splice		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1516					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.G1516V(1)		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)					CTCCACTGACCCTGTGGATAG	0.557000													25	18					5.45024e-15	8.64994e-15	0.003330	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187693111	187693111	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:187693111G>T	ENST00000295131.2	-	9	1541	c.1502C>A	c.(1501-1503)cCc>cAc	p.P501H		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	501					apoptosis		zinc ion binding	p.P501H(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TGACACAGTGGGTAAATCTTG	0.333000													7	73					2.7689e-08	3.72528e-08	0.001984	1	0
PCLO	27445	broad.mit.edu	37	7	82584457	82584457	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:82584457C>A	ENST00000423517.2	-	5	6149	c.5812G>T	c.(5812-5814)Gat>Tat	p.D1938Y	PCLO_ENST00000333891.8_Missense_Mutation_p.D1938Y	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1869					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.D1938Y(2)|p.D1869Y(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACACTTCATCTCGTTCATTT	0.373000													5	70					3.59834e-05	4.26328e-05	0.001168	1	0
RPUSD4	84881	broad.mit.edu	37	11	126073362	126073362	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:126073362T>C	ENST00000298317.4	-	7	1138	c.1085A>G	c.(1084-1086)aAt>aGt	p.N362S	RPUSD4_ENST00000533628.1_Missense_Mutation_p.N331S	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	362					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	p.N362S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		TTGATCCTCATTTGGCATCTC	0.552000													42	52					0	0	0.007835	0	0
LHFPL4	375323	broad.mit.edu	37	3	9594110	9594110	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:9594110C>G	ENST00000287585.6	-	2	539	c.254G>C	c.(253-255)aGc>aCc	p.S85T		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	85						integral to membrane		p.S85T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CGGGATGGTGCTGAAGTCGGT	0.642000													14	25					0	0	0.001855	0	0
BIN1	274	broad.mit.edu	37	2	127821174	127821174	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:127821174C>T	ENST00000316724.5	-	9	1158	c.747G>A	c.(745-747)gaG>gaA	p.E249E	BIN1_ENST00000393040.3_Silent_p.E218E|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000351659.3_Silent_p.E249E|BIN1_ENST00000346226.3_Silent_p.E218E|BIN1_ENST00000259238.4_Silent_p.E218E|BIN1_ENST00000409400.1_Silent_p.E218E|BIN1_ENST00000352848.3_Silent_p.E218E|BIN1_ENST00000393041.3_Silent_p.E218E|BIN1_ENST00000348750.4_Silent_p.E218E|BIN1_ENST00000376113.2_Silent_p.E218E|BIN1_ENST00000357970.3_Silent_p.E249E	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	249	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus		p.E249E(1)|p.E218E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGAAGTTTTCCTCCAGGCCCG	0.627000													10	18					0	0	0.006214	0	0
DENND5B	160518	broad.mit.edu	37	12	31632706	31632706	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:31632706G>C	ENST00000389082.5	-	3	985	c.721C>G	c.(721-723)Cca>Gca	p.P241A	DENND5B_ENST00000536562.1_Missense_Mutation_p.P276A|DENND5B_ENST00000354285.4_Missense_Mutation_p.P263A|DENND5B_ENST00000306833.6_Missense_Mutation_p.P276A|DENND5B_ENST00000545147.1_Intron	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	241	DENN.					integral to membrane		p.P241A(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GACCTCCCTGGAGGTGGAAGG	0.507000													11	10					0	0	0.008291	0	0
RP1	6101	broad.mit.edu	37	8	55540660	55540660	+	Silent	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:55540660A>G	ENST00000220676.1	+	4	4366	c.4218A>G	c.(4216-4218)aaA>aaG	p.K1406K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1406					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.K1406K(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAAGTGAAAAAGAAGCAGAAC	0.323000													4	62					0	0	0.009096	0	0
SLC3A1	6519	broad.mit.edu	37	2	44502681	44502681	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:44502681G>C	ENST00000260649.6	+	1	83	c.7G>C	c.(7-9)Gaa>Caa	p.E3Q	SLC3A1_ENST00000410056.3_Missense_Mutation_p.E3Q|SLC3A1_ENST00000409741.1_Missense_Mutation_p.E3Q|SLC3A1_ENST00000409387.1_Missense_Mutation_p.E3Q|SLC3A1_ENST00000409229.3_Missense_Mutation_p.E3Q	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	3					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	p.E3Q(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AGACATGGCTGAAGATAAAAG	0.478000													11	32					0	0	0.008291	0	0
KCTD15	79047	broad.mit.edu	37	19	34291379	34291379	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:34291379G>T	ENST00000284006.5	+	3	272	c.20G>T	c.(19-21)cGg>cTg	p.R7L	KCTD15_ENST00000588881.1_Missense_Mutation_p.R7L|KCTD15_ENST00000589786.1_Missense_Mutation_p.R7L|KCTD15_ENST00000430256.2_Missense_Mutation_p.R7L	NM_001129994.1|NM_001129995.1|NM_024076.2	NP_001123466.1|NP_001123467.1|NP_076981.2	Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15	7						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R7L(1)		endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					CGCAAGGAGCGGCCGAGCGGG	0.622000													3	9					0.004672	0.00511309	0.004672	1	0
MSANTD3	91283	broad.mit.edu	37	9	103204332	103204332	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:103204332G>A	ENST00000395067.2	+	2	383	c.112G>A	c.(112-114)Gat>Aat	p.D38N	MSANTD3_ENST00000374885.1_Missense_Mutation_p.D38N	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1			Myb/SANT-like DNA-binding domain containing 3											endometrium(2)|lung(2)	4						TAAGAAAAGTGATGCGCGAAC	0.463000													5	50					0	0	0.001168	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627804	43627804	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:43627804A>C	ENST00000332857.6	-	4	911	c.883T>G	c.(883-885)Tca>Gca	p.S295A	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.S295A(1)									TGGACTGATGAGTTAAAGGCG	0.562000													22	261					0	0	0.003330	0	0
ATP2A3	489	broad.mit.edu	37	17	3840845	3840845	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:3840845G>A	ENST00000309890.7	-	15	2336	c.2186C>T	c.(2185-2187)tCg>tTg	p.S729L	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Missense_Mutation_p.S729L|ATP2A3_ENST00000352011.3_Missense_Mutation_p.S729L|ATP2A3_ENST00000397035.3_Missense_Mutation_p.S729L|ATP2A3_ENST00000397041.3_Missense_Mutation_p.S729L|ATP2A3_ENST00000359983.3_Missense_Mutation_p.S729L	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	729					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.S729L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CTCTGCCGCCGACTTGGCCAC	0.612000													12	17					0	0	0.010729	0	0
PCLO	27445	broad.mit.edu	37	7	82579536	82579536	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:82579536G>C	ENST00000423517.2	-	6	10705	c.10368C>G	c.(10366-10368)agC>agG	p.S3456R	PCLO_ENST00000437081.1_Missense_Mutation_p.S176R|PCLO_ENST00000333891.8_Missense_Mutation_p.S3456R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3387					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S3456R(2)|p.S3387R(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TACTCACATAGCTCCGATCTG	0.428000													6	107					0	0	0.001168	0	0
CCDC27	148870	broad.mit.edu	37	1	3669111	3669111	+	Silent	SNP	G	G	T	rs145565766	byFrequency	TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:3669111G>T	ENST00000294600.2	+	1	150	c.66G>T	c.(64-66)ccG>ccT	p.P22P		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	22								p.P22P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGGAAAAGCCGGGCCTGTCCT	0.577000													50	28					8.72198e-27	1.57583e-26	0.003610	1	0
KLHL14	57565	broad.mit.edu	37	18	30350257	30350257	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr18:30350257G>T	ENST00000359358.4	-	2	736	c.298C>A	c.(298-300)Ccg>Acg	p.P100T	KLHL14_ENST00000358095.4_Missense_Mutation_p.P100T|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	100	BTB.					cytosol|endoplasmic reticulum membrane		p.P100T(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TCCTCctgcggcggcggctgc	0.726000													15	20					1.05317e-09	1.4816e-09	0.002450	1	0
RORA	6095	broad.mit.edu	37	15	60970879	60970879	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:60970879G>C	ENST00000335670.6	-	2	273	c.173C>G	c.(172-174)tCa>tGa	p.S58*	RORA_ENST00000560004.1_5'UTR	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	0	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.S58R(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						CTTCGTTACTGAGATACCTGG	0.418000													13	54					0	0	0.001855	0	0
SFMBT1	51460	broad.mit.edu	37	3	52941692	52941692	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:52941692C>T	ENST00000394752.3	-	18	2346	c.1964G>A	c.(1963-1965)aGt>aAt	p.S655N	SFMBT1_ENST00000358080.2_Missense_Mutation_p.S655N|SFMBT1_ENST00000394750.1_Missense_Mutation_p.S655N|SFMBT1_ENST00000296295.6_Missense_Mutation_p.S655N	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	655					regulation of transcription, DNA-dependent	nucleus		p.S655N(1)		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)		AGCTAAGTTACTATGCCCACC	0.378000													61	69					0	0	0.003610	0	0
OR5D16	390144	broad.mit.edu	37	11	55606301	55606301	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:55606301T>A	ENST00000378396.1	+	1	74	c.74T>A	c.(73-75)cTg>cAg	p.L25Q		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L25Q(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TACCTGGAACTGCAAATTCCC	0.423000													18	70					0	0	0.006122	0	0
MAST4	375449	broad.mit.edu	37	5	66462834	66462834	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:66462834G>T	ENST00000404260.3	+	29	8144	c.7836G>T	c.(7834-7836)cgG>cgT	p.R2612R	MAST4_ENST00000403666.1_Silent_p.R2420R|MAST4_ENST00000261569.7_Silent_p.R2415R|MAST4_ENST00000403625.2_Silent_p.R2609R|MAST4_ENST00000405643.1_Silent_p.R2430R			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2612						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R2612R(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGCAGAGGCGGGGGAAAGAGA	0.592000													4	20					0.00024832	0.000285568	0.009096	1	0
PTPRN	5798	broad.mit.edu	37	2	220166876	220166876	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:220166876G>C	ENST00000295718.2	-	6	1217	c.977C>G	c.(976-978)tCc>tGc	p.S326C	PTPRN_ENST00000423636.2_Missense_Mutation_p.S236C|PTPRN_ENST00000409251.3_Missense_Mutation_p.S326C|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	326					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.S326C(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CACAGCTGGGGAAGCAGGCTT	0.617000													13	19					0	0	0.001855	0	0
IFT140	9742	broad.mit.edu	37	16	1573703	1573703	+	Splice_Site	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:1573703T>A	ENST00000426508.2	-	26	3634		c.e26-2		IFT140_ENST00000361339.5_Splice_Site	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)									p.?(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GTGGCCAGCCTGCGGATACGG	0.677000													8	21					0	0	0.003080	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86324916	86324916	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:86324916T>A	ENST00000355238.6	-	11	1636	c.1430A>T	c.(1429-1431)tAt>tTt	p.Y477F	RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.I13F|SYNCRIP_ENST00000369622.3_Missense_Mutation_p.Y477F	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	477	3 X 4 AA repeats of Y-Y-G-Y.|8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	p.Y477F(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TCCACCACGATAGTTATGGTA	0.423000													13	39					0	0	0.001855	0	0
RNF152	220441	broad.mit.edu	37	18	59483517	59483517	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr18:59483517C>A	ENST00000312828.3	-	2	1279	c.180G>T	c.(178-180)ctG>ctT	p.L60L		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	60					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	p.L60L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				AGCCGGGAGGCAGCTTGGTGA	0.627000													14	10					0.000219431	0.000253554	0.002450	1	0
IQCH	64799	broad.mit.edu	37	15	67692483	67692483	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:67692483A>G	ENST00000335894.4	+	14	2003	c.1937A>G	c.(1936-1938)gAt>gGt	p.D646G	IQCH_ENST00000358767.3_Missense_Mutation_p.D382G|IQCH_ENST00000546225.1_Missense_Mutation_p.D303G|IQCH_ENST00000360277.4_Missense_Mutation_p.D307G	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	646								p.D646G(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CTGATAACTGATCACCTGCAA	0.418000													10	28					0	0	0.010729	0	0
FUT9	10690	broad.mit.edu	37	6	96651104	96651104	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:96651104T>A	ENST00000302103.5	+	3	399	c.73T>A	c.(73-75)Tgt>Agt	p.C25S		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	25					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.C25S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TTTCATGGCATGTCTTCTCAT	0.388000													32	93					0	0	0.002836	0	0
TKTL2	84076	broad.mit.edu	37	4	164394640	164394640	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:164394640G>T	ENST00000280605.3	-	1	407	c.247C>A	c.(247-249)Ctc>Atc	p.L83I		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	83						cytoplasm	metal ion binding|transketolase activity	p.L83I(1)		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)				GCAGCATAGAGGATAGGAGCA	0.532000													8	13					0.00307968	0.00340126	0.003080	1	0
MOSPD2	158747	broad.mit.edu	37	X	14932624	14932624	+	Splice_Site	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:14932624G>T	ENST00000380492.3	+	11	1080		c.e11-1		MOSPD2_ENST00000482354.1_Splice_Site|MOSPD2_ENST00000495110.1_Splice_Site	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2							integral to membrane	structural molecule activity	p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TCACTCCCTAGCCCAGCAGAA	0.308000													8	49					5.18039e-06	6.40477e-06	0.003080	1	0
FAT3	120114	broad.mit.edu	37	11	92533467	92533467	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:92533467G>T	ENST00000298047.6	+	9	7305	c.7288G>T	c.(7288-7290)Gaa>Taa	p.E2430*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.E2280*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.E2430*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2430	Cadherin 22.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.E2430*(2)		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)				TGACCGGTTGGAATATAGCAT	0.483000										TCGA Ovarian(4;0.039)			13	77					0.00136819	0.00152854	0.001368	1	0
LRP1	4035	broad.mit.edu	37	12	57588382	57588382	+	Silent	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:57588382T>C	ENST00000243077.3	+	50	8557	c.8091T>C	c.(8089-8091)ccT>ccC	p.P2697P		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2697	LDL-receptor class A 15.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.P2697P(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAGATGCCCTCTGAATTACT	0.647000													35	41					0	0	0.003755	0	0
NBAS	51594	broad.mit.edu	37	2	15557783	15557783	+	Silent	SNP	A	A	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:15557783A>C	ENST00000281513.5	-	24	2656	c.2631T>G	c.(2629-2631)ggT>ggG	p.G877G	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	877								p.G877G(1)		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						GAACCAGCAAACCAGGAATAT	0.398000													9	21					0	0	0.008291	0	0
ESRRB	2103	broad.mit.edu	37	14	76905865	76905865	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:76905865G>T	ENST00000380887.2	+	2	241	c.169G>T	c.(169-171)Gac>Tac	p.D57Y	ESRRB_ENST00000261532.7_Missense_Mutation_p.D57Y|ESRRB_ENST00000509242.1_Missense_Mutation_p.D57Y|ESRRB_ENST00000556177.1_Missense_Mutation_p.D57Y|ESRRB_ENST00000507951.1_3'UTR			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	57						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.D57Y(2)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CAACGGTCTGGACTCGCCACC	0.687000													11	22					9.70103e-10	1.37006e-09	0.008291	1	0
TRPM4	54795	broad.mit.edu	37	19	49692259	49692259	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:49692259C>T	ENST00000252826.5	+	14	2056	c.1930C>T	c.(1930-1932)Cgt>Tgt	p.R644C	TRPM4_ENST00000355712.5_Missense_Mutation_p.R290C|TRPM4_ENST00000427978.2_Missense_Mutation_p.R644C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	644					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.R644C(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCTCCTCCTCCGTCGCTGCCC	0.617000													42	90					0	0	0.008740	0	0
KIF13A	63971	broad.mit.edu	37	6	17799501	17799501	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:17799501C>A	ENST00000378814.5	-	22	2785	c.2786G>T	c.(2785-2787)tGt>tTt	p.C929F	KIF13A_ENST00000378816.5_Missense_Mutation_p.C929F|KIF13A_ENST00000378826.2_Missense_Mutation_p.C929F|KIF13A_ENST00000378843.2_Missense_Mutation_p.C929F|KIF13A_ENST00000259711.6_Missense_Mutation_p.C929F	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	929					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	p.C929F(2)		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)			TTGTACCTTACAGTGGGAGAA	0.507000													5	26					0.000602214	0.000681726	0.000602	1	0
CD276	80381	broad.mit.edu	37	15	73995330	73995330	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:73995330G>A	ENST00000318443.5	+	4	938	c.636G>A	c.(634-636)ctG>ctA	p.L212L	CD276_ENST00000537340.2_Silent_p.L66L|CD276_ENST00000564751.1_Intron|CD276_ENST00000318424.5_Intron|CD276_ENST00000561213.1_Silent_p.L212L	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	212	Ig-like C2-type 1.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding	p.L212L(1)		endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GGGTGGTGCTGGGTGCAAATG	0.622000													5	34					0	0	0.000602	0	0
CCDC129	223075	broad.mit.edu	37	7	31682505	31682505	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:31682505G>T	ENST00000319386.3	+	11	2070	c.1077G>T	c.(1075-1077)ctG>ctT	p.L359L	CCDC129_ENST00000409210.1_Silent_p.L415L|CCDC129_ENST00000451887.2_Silent_p.L533L|CCDC129_ENST00000407970.3_Silent_p.L507L			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	507								p.L359L(1)|p.L507L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAGAGTTTCTGCTTGAGGCCA	0.532000													38	99					3.62531e-18	6.03801e-18	0.004289	1	0
KMT2D	8085	broad.mit.edu	37	12	49444804	49444804	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:49444804C>T	ENST00000301067.7	-	10	2661	c.2662G>A	c.(2662-2664)Gaa>Aaa	p.E888K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.E888K(1)									AAGGATGGTTCCCCAGGGGGA	0.647000													5	86					0	0	0.000602	0	0
PAPPA	5069	broad.mit.edu	37	9	118950205	118950205	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:118950205C>A	ENST00000328252.3	+	2	1557	c.1188C>A	c.(1186-1188)gaC>gaA	p.D396E		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	396	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.D396E(2)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGGAGCTGGACGTGCTGGAGG	0.582000													10	51					0.00829132	0.00903997	0.008291	1	0
NALCN	259232	broad.mit.edu	37	13	101710363	101710363	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:101710363C>T	ENST00000251127.6	-	43	5032	c.4951G>A	c.(4951-4953)Gga>Aga	p.G1651R	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1651						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.G1651R(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGACTTCCTCCTCGATCCGAC	0.597000													19	48					0	0	0.008871	0	0
RPL10L	140801	broad.mit.edu	37	14	47120772	47120772	+	Missense_Mutation	SNP	T	T	G	rs138905696		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:47120772T>G	ENST00000298283.3	-	1	256	c.168A>C	c.(166-168)gaA>gaC	p.E56D		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	56					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.E56D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GCTGCTCATATTCATCAGACA	0.522000													10	92					0	0	0.008291	0	0
LPA	4018	broad.mit.edu	37	6	161022112	161022112	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:161022112G>A	ENST00000447678.1	-	20	3084	c.2964C>T	c.(2962-2964)taC>taT	p.Y988Y	LPA_ENST00000316300.5_Silent_p.Y988Y	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3496	Kringle 9.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.Y988Y(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GATTTCGGCAGTAGTTCTTGA	0.438000													36	62					0	0	0.005524	0	0
LINC00303	284573	broad.mit.edu	37	1	204006249	204006249	+	RNA	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:204006249G>T	ENST00000367207.3	-	0	771																											GGAGGGCCCTGTGAGAGGCCC	0.552000													7	14					8.12818e-05	9.52121e-05	0.001984	1	0
FURIN	5045	broad.mit.edu	37	15	91423351	91423351	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:91423351G>T	ENST00000268171.3	+	13	1683	c.1404G>T	c.(1402-1404)cgG>cgT	p.R468R		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	468					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	p.R468R(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TCGAGGTGCGGAAGACCGTGA	0.667000													4	16					0.00909568	0.00985762	0.009096	1	0
OR52K2	119774	broad.mit.edu	37	11	4471181	4471181	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:4471181G>T	ENST00000325719.4	+	1	657	c.612G>T	c.(610-612)gtG>gtT	p.V204V		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V204V(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATCGCTGTGGCCATGTTTA	0.517000													76	124					1.24833e-42	2.36449e-42	0.003610	1	0
PKD1L2	114780	broad.mit.edu	37	16	81208465	81208465	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:81208465C>A	ENST00000599697.1	-	16	2637	c.2638G>T	c.(2638-2640)Gag>Tag	p.E880*	PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	880	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.E880*(2)|p.E195*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGGATTTTCTCTGACACGGCA	0.547000													10	33					0.000442599	0.000506177	0.006214	1	0
SKIDA1	387640	broad.mit.edu	37	10	21804537	21804537	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:21804537C>A	ENST00000449193.2	-	4	4467	c.2215G>T	c.(2215-2217)Gca>Tca	p.A739S	SKIDA1_ENST00000444772.3_Missense_Mutation_p.A660S	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.A739S(2)									TCAGGGCATGCAAAACCTTCC	0.443000													89	365					1.76421e-39	3.32857e-39	0.003610	1	0
IGF1R	3480	broad.mit.edu	37	15	99442824	99442824	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:99442824C>T	ENST00000268035.6	+	5	1832	c.1221C>T	c.(1219-1221)ctC>ctT	p.L407L	IGF1R_ENST00000558762.1_Silent_p.L407L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	407					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	p.L407L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ACCTTCGCCTCATCCTAGGAG	0.488000													16	100					0	0	0.004990	0	0
ASPM	259266	broad.mit.edu	37	1	197070690	197070690	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:197070690T>C	ENST00000367409.4	-	18	7947	c.7691A>G	c.(7690-7692)tAc>tGc	p.Y2564C	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2564					mitosis	cytoplasm|nucleus	calmodulin binding	p.Y2564C(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATACATTCTGTAGGTGCTTTG	0.338000													9	58					0	0	0.004482	0	0
TRPM8	79054	broad.mit.edu	37	2	234855735	234855735	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:234855735C>A	ENST00000324695.4	+	8	918	c.878C>A	c.(877-879)tCc>tAc	p.S293Y	AC005538.5_ENST00000455991.1_RNA|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	293						integral to membrane		p.S293Y(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TTTACAGATTCCAACTATGGT	0.403000													12	42					5.50884e-06	6.75894e-06	0.001368	1	0
FRMPD1	22844	broad.mit.edu	37	9	37745322	37745322	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:37745322T>A	ENST00000539465.1	+	16	3886	c.3293T>A	c.(3292-3294)aTc>aAc	p.I1098N	FRMPD1_ENST00000377765.3_Missense_Mutation_p.I1098N|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1098						cytoskeleton|cytosol|plasma membrane		p.I1098N(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ATAGCTTCTATCCCTACAAAG	0.433000													31	90					0	0	0.008361	0	0
LRP2	4036	broad.mit.edu	37	2	170090060	170090060	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:170090060G>A	ENST00000263816.3	-	30	5244	c.4959C>T	c.(4957-4959)gaC>gaT	p.D1653D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1653					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.D1653D(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTACACAGAGTCTTCAAAGA	0.488000													28	49					0	0	0.005443	0	0
DNAH9	1770	broad.mit.edu	37	17	11687034	11687034	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:11687034C>A	ENST00000262442.3	+	40	7858	c.7790C>A	c.(7789-7791)gCa>gAa	p.A2597E	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2597E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2597	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A2597E(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACCCCACGGCAGGCAGCTTC	0.502000													19	31					5.26018e-13	8.02316e-13	0.012319	1	0
MCM2	4171	broad.mit.edu	37	3	127318305	127318305	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:127318305G>C	ENST00000265056.7	+	2	395	c.151G>C	c.(151-153)Gat>Cat	p.D51H		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	51	Interaction with MYST2 (By similarity).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	p.D51H(1)		ovary(3)|skin(2)|stomach(1)	6						ACCATTTGAGGATGAGTCCGA	0.592000													35	73					0	0	0.004289	0	0
DAB2	1601	broad.mit.edu	37	5	39377209	39377209	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:39377209G>A	ENST00000545653.1	-	11	2147	c.1617C>T	c.(1615-1617)ccC>ccT	p.P539P	DAB2_ENST00000339788.6_Silent_p.P342P|DAB2_ENST00000320816.6_Silent_p.P560P|DAB2_ENST00000509337.1_Silent_p.P539P	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	560					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.P560P(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AGGCTGCAAAGGGTGAAGGCT	0.547000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	71					0	0	0.003080	0	0
GRIK4	2900	broad.mit.edu	37	11	120702643	120702643	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:120702643G>T	ENST00000527524.2	+	7	881	c.594G>T	c.(592-594)cgG>cgT	p.R198R	GRIK4_ENST00000438375.2_Silent_p.R198R			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	198					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R198R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	ATGACACCCGGGACCCCACCC	0.597000													22	41					5.26018e-13	8.02316e-13	0.012319	1	0
MIR1324	100302212	broad.mit.edu	37	3	75679928	75679928	+	RNA	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:75679928T>C	ENST00000408868.1	+	0	15					NR_031714.1																						AAGAGGTGCATGAAGCCTGGT	0.567000													4	57					0	0	0.009096	0	0
FAM186B	84070	broad.mit.edu	37	12	49993982	49993982	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:49993982C>G	ENST00000544141.1	-	4	1770	c.1171G>C	c.(1171-1173)Gag>Cag	p.E391Q	FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000257894.2_Missense_Mutation_p.E481Q|PRPF40B_ENST00000508736.1_3'UTR			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	481						protein complex		p.E481Q(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AATTCCTCCTCCCAGGGCTCC	0.602000													36	46					0	0	0.003755	0	0
ZNF232	7775	broad.mit.edu	37	17	5012905	5012905	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:5012905C>A	ENST00000250076.3	-	3	936	c.282G>T	c.(280-282)cgG>cgT	p.R94R	ZNF232_ENST00000416429.2_Silent_p.R67R|ZNF232_ENST00000575898.1_Silent_p.R94R|ZNF232_ENST00000575538.1_Intron	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	67	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R94R(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TCAAGGCCTCCCGGGGACCAG	0.562000													27	19					4.47668e-21	7.78716e-21	0.003954	1	0
KCNQ4	9132	broad.mit.edu	37	1	41249968	41249968	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:41249968C>A	ENST00000347132.5	+	1	285	c.203C>A	c.(202-204)gCc>gAc	p.A68D	KCNQ4_ENST00000509682.2_Missense_Mutation_p.A68D	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	68					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		p.A68D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TCGGGCTCCGCCTGCGGCCAG	0.801000													7	13					0.00307968	0.00340126	0.003080	1	0
BACH1	571	broad.mit.edu	37	21	30699390	30699390	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr21:30699390G>T	ENST00000399921.1	+	3	1488	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H	BACH1_ENST00000286800.3_Missense_Mutation_p.Q415H	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	415						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q415H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GCCAAATGCAGTTATCACCTG	0.502000													17	27					9.16793e-09	1.24735e-08	0.004990	1	0
TBC1D4	9882	broad.mit.edu	37	13	75884279	75884279	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:75884279C>A	ENST00000377636.3	-	14	2738	c.2392G>T	c.(2392-2394)Gac>Tac	p.D798Y	TBC1D4_ENST00000425511.1_Missense_Mutation_p.D15Y|TBC1D4_ENST00000431480.2_Missense_Mutation_p.D790Y|TBC1D4_ENST00000377625.2_Missense_Mutation_p.D735Y	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	798						cytoplasm	Rab GTPase activator activity	p.L797_D798>FY(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCGTTCCTGTCCAATCCATCT	0.498000													17	13					3.41278e-10	4.86725e-10	0.004990	1	0
CYP11B1	1584	broad.mit.edu	37	8	143957222	143957222	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:143957222C>G	ENST00000292427.4	-	6	1059	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	CYP11B1_ENST00000517471.1_Missense_Mutation_p.E343Q|CYP11B1_ENST00000377675.3_Missense_Mutation_p.E414Q	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	343					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.E343Q(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCCAGGCTCTCCTGGCGCAGG	0.642000									Familial Hyperaldosteronism type I				33	59					0	0	0.003271	0	0
NXF5	55998	broad.mit.edu	37	X	101092565	101092565	+	Silent	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:101092565T>A	ENST00000537026.1	-	15	1340	c.981A>T	c.(979-981)gcA>gcT	p.A327A	NXF5_ENST00000361708.2_Silent_p.A327A|NXF5_ENST00000473265.2_Silent_p.A327A	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	327	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.A327A(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TTTCAGGCAATGCACTGAGGG	0.542000													62	78					0	0	0.003610	0	0
PHPT1	29085	broad.mit.edu	37	9	139745268	139745268	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:139745268A>T	ENST00000247665.10	+	3	684	c.347A>T	c.(346-348)tAc>tTc	p.Y116F	PHPT1_ENST00000371661.1_3'UTR|PHPT1_ENST00000492540.1_3'UTR|PHPT1_ENST00000545326.1_3'UTR	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1	116						cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity	p.Y116F(1)		NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TACCCCGACTACGAGGTCACC	0.617000													27	117					0	0	0.005443	0	0
LRCH2	57631	broad.mit.edu	37	X	114398286	114398286	+	Silent	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:114398286A>G	ENST00000317135.8	-	11	1446	c.1416T>C	c.(1414-1416)gaT>gaC	p.D472D	LRCH2_ENST00000538422.1_Silent_p.D472D	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	472								p.D472D(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TTTTCCTCAAATCAGTTACTT	0.353000													3	20					0	0	0.009096	0	0
C3orf30	152405	broad.mit.edu	37	3	118865774	118865774	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:118865774G>A	ENST00000295622.1	+	1	778	c.738G>A	c.(736-738)tcG>tcA	p.S246S		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	246								p.S246S(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACAGTGGATCGTCCGTACCAT	0.468000													16	85					0	0	0.004990	0	0
HSF5	124535	broad.mit.edu	37	17	56540405	56540405	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:56540405C>A	ENST00000323777.3	-	4	1389	c.1280G>T	c.(1279-1281)aGc>aTc	p.S427I		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	427						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S427I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCCAGCTGGCTAGCCTGACT	0.473000													44	55					1.57019e-19	2.6673e-19	0.007835	1	0
DAO	1610	broad.mit.edu	37	12	109292563	109292563	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:109292563C>A	ENST00000228476.3	+	9	1008	c.804C>A	c.(802-804)ccC>ccA	p.P268P	DAO_ENST00000551281.1_Silent_p.P202P	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	268					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	p.P268P(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GACTGGAGCCCACACTGAAGG	0.532000													15	27					6.31663e-08	8.35109e-08	0.003163	1	0
TRPS1	7227	broad.mit.edu	37	8	116631897	116631897	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:116631897C>A	ENST00000395715.3	-	3	1005	c.428G>T	c.(427-429)aGa>aTa	p.R143I	TRPS1_ENST00000519674.1_Missense_Mutation_p.R130I|TRPS1_ENST00000519076.1_Missense_Mutation_p.R84I|TRPS1_ENST00000520276.1_Missense_Mutation_p.R134I|TRPS1_ENST00000220888.5_Missense_Mutation_p.R130I	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	130					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R143I(1)|p.R130I(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGCCTCTGCTCTTTGCGGAGA	0.522000									Langer-Giedion syndrome				14	73					6.31663e-08	8.35109e-08	0.003163	1	0
ATP7B	540	broad.mit.edu	37	13	52542620	52542620	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:52542620A>T	ENST00000242839.4	-	4	1823	c.1667T>A	c.(1666-1668)aTg>aAg	p.M556K	ATP7B_ENST00000418097.2_Missense_Mutation_p.M556K|ATP7B_ENST00000400366.3_Missense_Mutation_p.M445K|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.M556K|ATP7B_ENST00000344297.5_Missense_Mutation_p.M556K	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	556					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	p.M556N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GTAGTCCTCCATGACTGCTGC	0.522000									Wilson disease				16	24					0	0	0.004007	0	0
PLSCR2	57047	broad.mit.edu	37	3	146177842	146177842	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:146177842C>T	ENST00000497985.1	-	4	508	c.69G>A	c.(67-69)aaG>aaA	p.K23K	PLSCR2_ENST00000336685.2_5'UTR	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	0					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	p.K23K(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						CAGCCTGGTGCTTAGGGTAGA	0.512000													4	9					0	0	0.009096	0	0
CHRM2	1129	broad.mit.edu	37	7	136699793	136699793	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:136699793T>C	ENST00000445907.2	+	3	709	c.181T>C	c.(181-183)Ttt>Ctt	p.F61L	CHRM2_ENST00000397608.3_Missense_Mutation_p.F61L|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.F61L|CHRM2_ENST00000453373.1_Missense_Mutation_p.F61L|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.F61L|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.F61L	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	61					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.F61L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CAACAATTACTTTTTATTCAG	0.473000													49	117					0	0	0.003610	0	0
DUSP27	92235	broad.mit.edu	37	1	167095143	167095143	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:167095143C>A	ENST00000361200.2	+	6	941	c.775C>A	c.(775-777)Cgg>Agg	p.R259R	DUSP27_ENST00000443333.1_Silent_p.R259R|DUSP27_ENST00000271385.5_Silent_p.R259R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	259	Tyrosine-protein phosphatase.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.R259R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCGTAAGAAGCGGGCCATCTA	0.577000													13	50					5.50884e-06	6.75894e-06	0.001368	1	0
TNC	3371	broad.mit.edu	37	9	117808850	117808850	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:117808850C>A	ENST00000350763.4	-	17	5375	c.4964G>T	c.(4963-4965)aGa>aTa	p.R1655I	TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000535648.1_Missense_Mutation_p.R1200I|TNC_ENST00000345230.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.R1473I|TNC_ENST00000346706.3_Missense_Mutation_p.R1109I|TNC_ENST00000340094.3_Missense_Mutation_p.R1291I|TNC_ENST00000542877.1_Missense_Mutation_p.R1292I	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1655	Fibronectin type-III 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.R1655I(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTTGGTATCTCTGATTTTGAG	0.478000													75	143					2.08929e-35	3.9164e-35	0.003610	1	0
LRRC37A6P	387646	broad.mit.edu	37	10	27539347	27539347	+	RNA	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:27539347C>G	ENST00000574842.1	+	0	616				LRRC37A6P_ENST00000284414.4_RNA																							ACAGGAGGACCTGGAGGCTCA	0.597000													16	84					0	0	0.003163	0	0
XIRP2	129446	broad.mit.edu	37	2	168102125	168102125	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:168102125C>A	ENST00000409195.1	+	9	4312	c.4223C>A	c.(4222-4224)cCc>cAc	p.P1408H	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P1186H|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P1408H|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1233					actin cytoskeleton organization	cell junction	actin binding	p.P1408H(1)		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						AATATTATGCCCAGTATTGAC	0.348000													20	26					2.37509e-13	3.65729e-13	0.010504	1	0
PLXNA3	55558	broad.mit.edu	37	X	153694059	153694059	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:153694059C>A	ENST00000369682.3	+	13	2576	c.2401C>A	c.(2401-2403)Ccc>Acc	p.P801T		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	801					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.P801T(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAAGGCTGATCCCCGCTTCAA	0.657000													7	50					5.18039e-06	6.40477e-06	0.003080	1	0
ANGPTL2	23452	broad.mit.edu	37	9	129854077	129854077	+	Missense_Mutation	SNP	C	C	T	rs141690990		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:129854077C>T	ENST00000373425.3	-	4	1771	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Missense_Mutation_p.R83H|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	385	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding	p.R385H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						AGGTTCCAGGCGGAAACTGGC	0.547000													12	381					0	0	0.001368	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101755679	101755679	+	Silent	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:101755679A>T	ENST00000506729.1	-	8	1494	c.1323T>A	c.(1321-1323)ggT>ggA	p.G441G	SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Silent_p.G379G|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Silent_p.G441G|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	441						integral to membrane|plasma membrane	transporter activity	p.G441G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAACAATGACACCTCCCAGAA	0.348000													39	27					0	0	0.005524	0	0
FZD1	8321	broad.mit.edu	37	7	90895652	90895652	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:90895652C>T	ENST00000287934.2	+	1	1870	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	486					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	p.A486V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			AACGTGGACGCGCTGCGTGGC	0.632000													6	139					0	0	0.001168	0	0
RUFY3	22902	broad.mit.edu	37	4	71654661	71654661	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:71654661C>A	ENST00000226328.4	+	11	1773	c.1210C>A	c.(1210-1212)Ctc>Atc	p.L404I	RUFY3_ENST00000381006.3_Missense_Mutation_p.L404I|RUFY3_ENST00000417478.2_Missense_Mutation_p.L464I|RUFY3_ENST00000502653.1_Missense_Mutation_p.L351I|RUFY3_ENST00000536664.1_Missense_Mutation_p.L388I	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	404					negative regulation of axonogenesis	filopodium|growth cone		p.L404I(2)		endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CCTCAGAGCTCTCAAGCATGA	0.512000													24	27					3.01185e-09	4.17624e-09	0.003954	1	0
PAPPA2	60676	broad.mit.edu	37	1	176668590	176668590	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:176668590C>A	ENST00000367662.3	+	8	4265	c.3101C>A	c.(3100-3102)gCa>gAa	p.A1034E		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1034					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.A1034E(1)		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						ATTGATGCAGCACTCCTGACT	0.552000													16	110					6.31663e-08	8.35109e-08	0.003163	1	0
MYBL2	4605	broad.mit.edu	37	20	42343885	42343885	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:42343885G>T	ENST00000217026.4	+	13	2063	c.1936G>T	c.(1936-1938)Gcc>Tcc	p.A646S	MYBL2_ENST00000396863.4_Missense_Mutation_p.A622S	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	646						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A646S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGCAGCAGTGGCCCAGAAGCC	0.597000													18	190					6.49762e-13	9.90016e-13	0.006122	1	0
PBXIP1	57326	broad.mit.edu	37	1	154919131	154919131	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:154919131C>A	ENST00000368463.3	-	10	1090	c.1019G>T	c.(1018-1020)gGg>gTg	p.G340V	PBXIP1_ENST00000368465.1_Missense_Mutation_p.G311V|PBXIP1_ENST00000539880.1_Missense_Mutation_p.G167V|PBXIP1_ENST00000542459.1_Missense_Mutation_p.G185V	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	340					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	p.G340V(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGCCTCCAGCCCCTGGAGCCG	0.701000													10	69					0.000442599	0.000506177	0.006214	1	0
COL6A6	131873	broad.mit.edu	37	3	130287008	130287008	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:130287008T>G	ENST00000358511.6	+	5	1992	c.1961T>G	c.(1960-1962)aTt>aGt	p.I654S	COL6A6_ENST00000453409.2_Missense_Mutation_p.I654S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	654	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen		p.I654S(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						AAGTCTCAGATTGGACCAGAT	0.418000													15	181					0	0	0.002450	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50723611	50723611	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:50723611C>A	ENST00000515869.1	-	6	3074	c.2954G>T	c.(2953-2955)cGa>cTa	p.R985L	PGBD3_ENST00000508005.2_Missense_Mutation_p.R517L|PGBD3_ENST00000374127.3_Missense_Mutation_p.R517L|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000603152.1_Missense_Mutation_p.R985L|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.R985L	NM_001277059.1	NP_001263988.1												p.R517L(1)									TACCACACGTCGACGAAACTC	0.443000													29	85					1.17739e-12	1.79206e-12	0.005443	1	0
KDM7A	80853	broad.mit.edu	37	7	139791672	139791672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:139791672G>T	ENST00000397560.2	-	19	2760	c.2663C>A	c.(2662-2664)tCg>tAg	p.S888*		NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		888					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.S888*(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					AAGGGGCACCGAGAAGGAAGT	0.468000													36	138					1.30998e-17	2.15456e-17	0.005524	1	0
ZNF479	90827	broad.mit.edu	37	7	57188160	57188160	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:57188160C>A	ENST00000331162.4	-	5	1232	c.962G>T	c.(961-963)gGa>gTa	p.G321V		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G321V(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGGTTTCTCTCCAGTATGAAT	0.443000													6	31					0.000274275	0.000314418	0.004482	1	0
HBB	3043	broad.mit.edu	37	11	5247887	5247887	+	Missense_Mutation	SNP	G	G	T	rs33918483		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:5247887G>T	ENST00000335295.3	-	2	410	c.235C>A	c.(235-237)Ctg>Atg	p.L79M		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	79			L -> R (in Quin-hai).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	p.L79M(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	AGGTTGTCCAGGTGAGCCAGG	0.547000									Sickle Cell Trait				20	96					3.99206e-14	6.23329e-14	0.007413	1	0
DNAH1	25981	broad.mit.edu	37	3	52427383	52427383	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:52427383G>T	ENST00000420323.2	+	66	10769	c.10508G>T	c.(10507-10509)cGc>cTc	p.R3503L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3568					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3503L(1)|p.R3567L(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AACATCAACCGCTACCTGACC	0.562000													17	102					1.02788e-11	1.52447e-11	0.004990	1	0
SPRR2E	6704	broad.mit.edu	37	1	153066193	153066193	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:153066193C>G	ENST00000368751.1	-	2	109	c.35G>C	c.(34-36)tGc>tCc	p.C12S	SPRR2E_ENST00000368750.3_Missense_Mutation_p.C12S|SPRR2B_ENST00000368752.4_Intron			P22531	SPR2E_HUMAN	small proline-rich protein 2E	12					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity	p.C12S(1)|p.C12F(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	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)			AGGTGGCTGGCAGGGCTGCTT	0.572000													41	209					0	0	0.003610	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933577	62933577	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:62933577G>A	ENST00000306494.6	-	7	1223	c.1224C>T	c.(1222-1224)agC>agT	p.S408S	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	408					transmembrane transport	integral to membrane		p.S408S(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GAAGCATCTGGCTTAGTCGAC	0.473000													11	40					0	0	0.008291	0	0
BPNT1	10380	broad.mit.edu	37	1	220236169	220236169	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:220236169T>C	ENST00000469520.2	-	8	1051	c.602A>G	c.(601-603)aAg>aGg	p.K201R	BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000414869.2_Missense_Mutation_p.K165R|BPNT1_ENST00000322067.7_Missense_Mutation_p.K201R|BPNT1_ENST00000354807.3_Missense_Mutation_p.K216R|BPNT1_ENST00000544404.1_Missense_Mutation_p.K146R			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	201					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	p.K201R(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		AGTAACCAACTTGTTGCTATG	0.463000													16	79					0	0	0.004990	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335508	42335508	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:42335508G>T	ENST00000262418.6	-	11	1283	c.1128C>A	c.(1126-1128)ggC>ggA	p.G376G	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	376					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.G376G(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CGAAGAGCTGGCCTGTCTGCT	0.602000													43	67					1.02687e-29	1.87633e-29	0.013114	1	0
AR	367	broad.mit.edu	37	X	66941689	66941689	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:66941689A>C	ENST00000374690.3	+	6	2857	c.2333A>C	c.(2332-2334)aAg>aCg	p.K778T	AR_ENST00000396043.2_Missense_Mutation_p.K246T|AR_ENST00000396044.3_Intron	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	777	Interaction with MYST2.|Ligand-binding.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.K778T(1)|p.K588T(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CGCATGCACAAGTCCCGGATG	0.517000									Androgen Insensitivity Syndrome				11	136					0	0	0.001368	0	0
GLDC	2731	broad.mit.edu	37	9	6610298	6610298	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:6610298G>T	ENST00000321612.6	-	4	679	c.529C>A	c.(529-531)Ctc>Atc	p.L177I		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	177					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	p.L177I(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGGTAGTTGAGTAAACTCTCC	0.547000													8	28					0.000157383	0.000182147	0.003080	1	0
SLC24A5	283652	broad.mit.edu	37	15	48414122	48414122	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:48414122C>A	ENST00000482911.2	+	2	231	c.190C>A	c.(190-192)Cgc>Agc	p.R64S	SLC24A5_ENST00000341459.3_Missense_Mutation_p.R64S|SLC24A5_ENST00000449382.2_Intron			Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	64					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.R64S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GAGACAGGAGCGCAGAGATGG	0.413000													34	102					1.74807e-11	2.58201e-11	0.010818	1	0
RPS11	6205	broad.mit.edu	37	19	50002824	50002824	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:50002824A>G	ENST00000270625.2	+	5	492	c.409A>G	c.(409-411)Aca>Gca	p.T137A	RPS11_ENST00000594493.1_Missense_Mutation_p.T58A|RPS11_ENST00000599561.1_3'UTR	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	137					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome	p.T137A(1)		kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		TCTGAGCAAGACAGTGCGCTT	0.617000													10	36					0	0	0.006214	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908349	164908349	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:164908349C>G	ENST00000475390.1	-	2	713	c.270G>C	c.(268-270)agG>agC	p.R90S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R90S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	90						integral to membrane		p.R90S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TATATAATTTCCTCATAGAAT	0.348000										HNSCC(40;0.11)			12	83					0	0	0.001368	0	0
AHDC1	27245	broad.mit.edu	37	1	27877829	27877829	+	Silent	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:27877829T>C	ENST00000374011.2	-	6	1766	c.798A>G	c.(796-798)ccA>ccG	p.P266P	AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Silent_p.P266P	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	266	Pro-rich.						DNA binding	p.P266P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CGGGCGATGGTGGCTCGAGGG	0.672000													4	22					0	0	0.009096	0	0
SVIL	6840	broad.mit.edu	37	10	29821015	29821015	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:29821015T>C	ENST00000375398.2	-	11	2374	c.1925A>G	c.(1924-1926)tAt>tGt	p.Y642C	SVIL_ENST00000355867.4_Missense_Mutation_p.Y642C|SVIL_ENST00000375400.3_Intron			O95425	SVIL_HUMAN	supervillin	642					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.Y642C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGGAGAAAAATAGCGTCTTGG	0.498000													67	57					0	0	0.003610	0	0
RNF144A	9781	broad.mit.edu	37	2	7137104	7137104	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:7137104C>T	ENST00000320892.6	+	3	489	c.47C>T	c.(46-48)cCg>cTg	p.P16L	RNF144A_ENST00000467276.1_Intron	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	16						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	p.P16L(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		GCCCTCGACCCGCTGGTGTCT	0.567000													12	25					0	0	0.001368	0	0
CASP6	839	broad.mit.edu	37	4	110610629	110610629	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:110610629C>T	ENST00000265164.2	-	7	816	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	CASP6_ENST00000510324.1_5'UTR|CASP6_ENST00000352981.3_Missense_Mutation_p.E158K	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	247					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding	p.E247K(1)|p.E247*(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		GTGAGGAGTTCTGTGAACTCT	0.453000													5	87					0	0	0.000602	0	0
ABCB11	8647	broad.mit.edu	37	2	169828369	169828369	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:169828369C>T	ENST00000263817.6	-	14	1750	c.1626G>A	c.(1624-1626)atG>atA	p.M542I		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	542	ABC transporter 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	p.M542I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GTGGCAGGTCCATGATGAAGT	0.438000													19	69					0	0	0.007413	0	0
USH2A	7399	broad.mit.edu	37	1	216372967	216372967	+	Splice_Site	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:216372967A>T	ENST00000366943.2	-	17	4198		c.e17+1		RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Splice_Site|USH2A_ENST00000307340.3_Splice_Site			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						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.?(1)		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)		TTGGATTCTTACCATTTAGTT	0.413000										HNSCC(13;0.011)			10	56					0	0	0.001368	0	0
ANKRD17	26057	broad.mit.edu	37	4	73957800	73957800	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:73957800C>A	ENST00000358602.4	-	29	5661	c.5545G>T	c.(5545-5547)Gcc>Tcc	p.A1849S	ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1736S|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1598S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1849					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.A1849S(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGTGCTGTGGCAGTTTGAGAT	0.438000													26	169					3.28513e-13	5.04253e-13	0.003954	1	0
PTGS2	5743	broad.mit.edu	37	1	186648545	186648545	+	Silent	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:186648545A>G	ENST00000367468.5	-	2	214	c.78T>C	c.(76-78)tgT>tgC	p.C26C	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	26	EGF-like.				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.C26C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CTCGGTTTTGACATGGGTGGG	0.378000													9	34					0	0	0.006214	0	0
SDHB	6390	broad.mit.edu	37	1	17371269	17371269	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:17371269C>T	ENST00000375499.3	-	2	337	c.187G>A	c.(187-189)Gtt>Att	p.V63I	SDHB_ENST00000466613.1_5'UTR	NM_003000.2	NP_002991.2	P21912	DHSB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	63	2Fe-2S ferredoxin-type.				respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding	p.V63I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		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;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	TTAAGGTCAACTTCATAAGTC	0.443000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				9	79					0	0	0.006214	0	0
LRP12	29967	broad.mit.edu	37	8	105503499	105503499	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:105503499C>A	ENST00000276654.5	-	7	2090	c.1982G>T	c.(1981-1983)aGa>aTa	p.R661I	LRP12_ENST00000424843.2_Missense_Mutation_p.R642I|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	661					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.R661I(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CATATCTCTTCTCTCATTTTC	0.478000													32	39					1.62565e-12	2.45627e-12	0.012213	1	0
GPR112	139378	broad.mit.edu	37	X	135487954	135487954	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:135487954C>A	ENST00000394143.1	+	23	9049	c.8758C>A	c.(8758-8760)Ctg>Atg	p.L2920M	GPR112_ENST00000394141.1_Missense_Mutation_p.L2715M|GPR112_ENST00000370652.1_Missense_Mutation_p.L2920M|GPR112_ENST00000287534.4_Missense_Mutation_p.L2673M|GPR112_ENST00000412101.1_Missense_Mutation_p.L2715M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2920					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L2920M(1)		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)					TCTTGTTCAACTGAATTCTGT	0.418000													15	98					6.31663e-08	8.35109e-08	0.003163	1	0
MEGF9	1955	broad.mit.edu	37	9	123367492	123367492	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:123367492C>T	ENST00000373930.3	-	6	1896	c.1785G>A	c.(1783-1785)acG>acA	p.T595T	MEGF9_ENST00000426959.1_Silent_p.T632T	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	595						integral to membrane	calcium ion binding	p.T632T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TATGTATGGGCGTCGTCAGGG	0.498000													10	128					0	0	0.006214	0	0
APOBEC1	339	broad.mit.edu	37	12	7805093	7805093	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:7805093C>T	ENST00000229304.4	-	3	403	c.383G>A	c.(382-384)cGg>cAg	p.R128Q		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	128					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	p.R128Q(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GAGACCTTGCCGATTTTGTTG	0.428000													41	14					0	0	0.007835	0	0
BTRC	8945	broad.mit.edu	37	10	103298106	103298106	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:103298106C>T	ENST00000370187.3	+	13	1752	c.1634C>T	c.(1633-1635)aCa>aTa	p.T545I	BTRC_ENST00000393441.4_Missense_Mutation_p.T504I|BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Missense_Mutation_p.T509I	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	545					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		p.T545I(1)		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)		CCTGCAGGGACACTCTGTCTA	0.453000													63	48					0	0	0.003610	0	0
MAP3K9	4293	broad.mit.edu	37	14	71206862	71206862	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:71206862C>A	ENST00000554752.2	-	7	1586	c.1587G>T	c.(1585-1587)acG>acT	p.T529T	MAP3K9_ENST00000554146.1_Silent_p.T266T|MAP3K9_ENST00000381250.4_Silent_p.T529T|MAP3K9_ENST00000555993.2_Silent_p.T529T|MAP3K9_ENST00000553414.1_Silent_p.T223T			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	529				KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4).	activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.T529T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGGCCTGCACCGTGAACTTGT	0.468000													14	24					0.000151284	0.000175932	0.001855	1	0
CAPNS2	84290	broad.mit.edu	37	16	55600831	55600831	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:55600831C>A	ENST00000457326.2	+	1	248	c.163C>A	c.(163-165)Cag>Aag	p.Q55K	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	55						cytoplasm|plasma membrane	calcium ion binding	p.Q55K(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						TGCAGCAGCTCAGTATACTCC	0.488000													9	36					2.17888e-05	2.6071e-05	0.006214	1	0
OR1S2	219958	broad.mit.edu	37	11	57971444	57971444	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:57971444G>A	ENST00000302592.6	-	1	209	c.210C>T	c.(208-210)acC>acT	p.T70T		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T70T(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GATACATGGGGGTGTGAAGGT	0.443000													20	107					0	0	0.008871	0	0
CPED1	79974	broad.mit.edu	37	7	120767242	120767242	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:120767242C>T	ENST00000310396.5	+	10	1700	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	CPED1_ENST00000423795.1_Silent_p.F191F|CPED1_ENST00000450913.2_Silent_p.F411F	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.F411F(1)									ATTTTCTCTTCCCTAATGAAT	0.289000													25	67					0	0	0.003330	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77356301	77356301	+	Missense_Mutation	SNP	C	C	T	rs142855321		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:77356301C>T	ENST00000282849.5	-	14	2513	c.2095G>A	c.(2095-2097)Ggc>Agc	p.G699S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	699	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G699S(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCACTTTGCCGGACATTGCA	0.403000													14	60					0	0	0.003163	0	0
HGF	3082	broad.mit.edu	37	7	81355281	81355281	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:81355281A>T	ENST00000222390.5	-	9	1319	c.1093T>A	c.(1093-1095)Tgt>Agt	p.C365S	HGF_ENST00000457544.2_Missense_Mutation_p.C360S	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	365	Kringle 3.				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.C365S(1)		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						GTGGTAAAACACCAGGGTGAT	0.438000													10	80					0	0	0.008291	0	0
GABRA5	2558	broad.mit.edu	37	15	27185194	27185194	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:27185194C>G	ENST00000335625.5	+	9	1735	c.847C>G	c.(847-849)Cgg>Ggg	p.R283G	GABRA5_ENST00000400081.3_Missense_Mutation_p.R283G|GABRA5_ENST00000355395.5_Missense_Mutation_p.R283G	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	283					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R283G(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTGGCTGAACCGGGAATCAGT	0.517000													8	19					0	0	0.003080	0	0
OR5L2	26338	broad.mit.edu	37	11	55595308	55595308	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:55595308T>G	ENST00000378397.1	+	1	614	c.614T>G	c.(613-615)tTg>tGg	p.L205W		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L205W(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GTGGCCACTTTGAATGAGAGT	0.463000										HNSCC(27;0.073)			25	132					0	0	0.002780	0	0
SLC7A8	23428	broad.mit.edu	37	14	23596443	23596443	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:23596443G>A	ENST00000316902.7	-	11	2276	c.1551C>T	c.(1549-1551)ccC>ccT	p.P517P	SLC7A8_ENST00000529705.2_Silent_p.P412P|SLC7A8_ENST00000469263.1_3'UTR|SLC7A8_ENST00000422941.2_Silent_p.P293P|SLC7A8_ENST00000453702.1_Silent_p.P314P	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	517					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	p.P517P(1)		autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GTTGGTACATGGGCTGCTGCT	0.622000													25	59					0	0	0.003330	0	0
OTOL1	131149	broad.mit.edu	37	3	161214687	161214687	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:161214687T>G	ENST00000327928.4	+	1	92	c.92T>G	c.(91-93)tTt>tGt	p.F31C		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	31						collagen		p.F31C(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CATACCAAATTTACGAAGAAA	0.408000													8	44					0	0	0.003080	0	0
MEGF10	84466	broad.mit.edu	37	5	126667056	126667056	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:126667056G>T	ENST00000274473.6	+	3	323	c.56G>T	c.(55-57)tGg>tTg	p.W19L	MEGF10_ENST00000503335.2_Missense_Mutation_p.W19L|MEGF10_ENST00000418761.2_Missense_Mutation_p.W19L|MEGF10_ENST00000508365.1_Missense_Mutation_p.W19L	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	19	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.W19L(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TTATGCCACTGGATTGGGACA	0.383000													47	46					2.43139e-17	3.97192e-17	0.003610	1	0
PCDHA3	56145	broad.mit.edu	37	5	140181571	140181571	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:140181571C>A	ENST00000522353.2	+	1	789	c.789C>A	c.(787-789)acC>acA	p.T263T	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.T263T|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1												p.T263T(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTGGTGACCGTTAACGCCA	0.413000													28	15					4.7796e-09	6.58331e-09	0.004656	1	0
RP11-93K22.13	0	broad.mit.edu	37	3	129810213	129810213	+	RNA	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:129810213C>A	ENST00000514010.1	-	0	248				ALG1L2_ENST00000507643.1_RNA																							GTTCAGGGCCCGGTAGGCCTC	0.617000													9	21					7.48243e-07	9.56932e-07	0.006214	1	0
TMEM132B	114795	broad.mit.edu	37	12	126138765	126138765	+	Silent	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:126138765T>C	ENST00000299308.3	+	9	2754	c.2746T>C	c.(2746-2748)Ttg>Ctg	p.L916L	TMEM132B_ENST00000535886.1_Silent_p.L428L	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	916						integral to membrane		p.L916L(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)		TCTGGTCTTCTTGATCAACTG	0.527000													11	125					0	0	0.010729	0	0
RNF123	63891	broad.mit.edu	37	3	49736441	49736441	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:49736441G>A	ENST00000327697.6	+	10	811	c.667G>A	c.(667-669)Gag>Aag	p.E223K	RNF123_ENST00000432042.1_Missense_Mutation_p.E77K	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	223	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding	p.E223K(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CACTGCCTTTGAGAACCTGTC	0.577000													9	121					0	0	0.006214	0	0
WDR48	57599	broad.mit.edu	37	3	39110337	39110337	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:39110337G>T	ENST00000302313.5	+	6	585	c.557G>T	c.(556-558)gGg>gTg	p.G186V	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000544962.1_Intron|WDR48_ENST00000396258.3_Missense_Mutation_p.G104V	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	186					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	p.G186V(1)		breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATTGTATCAGGGTCCACTGAA	0.328000													82	127					4.00405e-42	7.57424e-42	0.003610	1	0
ACCS	84680	broad.mit.edu	37	11	44101139	44101139	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:44101139G>T	ENST00000263776.8	+	10	1326	c.892G>T	c.(892-894)Gtt>Ttt	p.V298F		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	298							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.V298F(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TGAGAAGTCTGTTGGGTACCG	0.567000													4	27					0.00024832	0.000285568	0.009096	1	0
RHCG	51458	broad.mit.edu	37	15	90023572	90023572	+	Missense_Mutation	SNP	C	C	A	rs149510924	by1000genomes	TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:90023572C>A	ENST00000268122.4	-	4	658	c.590G>T	c.(589-591)cGg>cTg	p.R197L	RHCG_ENST00000544600.1_Missense_Mutation_p.R197L	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	197					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.R197L(1)|p.R197Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GTAGAGGATCCGGGTCACTGT	0.557000													59	89					8.28887e-21	1.43324e-20	0.003610	1	0
RECQL	5965	broad.mit.edu	37	12	21652495	21652495	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:21652495C>A	ENST00000444129.2	-	2	478	c.10G>T	c.(10-12)Gtt>Ttt	p.V4F	RECQL_ENST00000421138.2_Missense_Mutation_p.V4F	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	4					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	p.V4F(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TAACCTGAAACGGACGCCATT	0.259000								Other identified genes with known or suspected DNA repair function					9	114					3.86212e-05	4.56089e-05	0.008291	1	0
ARPP21	10777	broad.mit.edu	37	3	35723364	35723364	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:35723364G>C	ENST00000187397.4	+	3	577	c.121G>C	c.(121-123)Gaa>Caa	p.E41Q	ARPP21_ENST00000417925.1_Missense_Mutation_p.E41Q|ARPP21_ENST00000438071.1_Missense_Mutation_p.E41Q|ARPP21_ENST00000337271.5_Missense_Mutation_p.E41Q|ARPP21_ENST00000396482.2_Missense_Mutation_p.E41Q|ARPP21_ENST00000396481.2_Missense_Mutation_p.E41Q|ARPP21_ENST00000441454.1_Missense_Mutation_p.E41Q|ARPP21_ENST00000432682.1_Missense_Mutation_p.E41Q|ARPP21_ENST00000428373.1_Missense_Mutation_p.E41Q|ARPP21_ENST00000412048.1_Missense_Mutation_p.E41Q|ARPP21_ENST00000474696.1_Missense_Mutation_p.E41Q|ARPP21_ENST00000427542.1_Missense_Mutation_p.E41Q|ARPP21_ENST00000458225.1_Missense_Mutation_p.E41Q|ARPP21_ENST00000436702.1_Missense_Mutation_p.E41Q|ARPP21_ENST00000444190.1_Missense_Mutation_p.E41Q	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	41						cytoplasm	nucleic acid binding	p.E41Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGAGAAACTGGAACTGCAGGT	0.438000													27	29					0	0	0.005443	0	0
FAM71C	196472	broad.mit.edu	37	12	100042480	100042480	+	Silent	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:100042480A>G	ENST00000324341.1	+	1	950	c.528A>G	c.(526-528)ccA>ccG	p.P176P	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	176								p.P176P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		TGAGACCACCAGTGGAGGCTT	0.507000													6	31					0	0	0.001168	0	0
PTPRD	5789	broad.mit.edu	37	9	8525032	8525032	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:8525032G>T	ENST00000381196.4	-	15	1115	c.572C>A	c.(571-573)gCc>gAc	p.A191D	PTPRD_ENST00000360074.4_Missense_Mutation_p.A182D|PTPRD_ENST00000486161.1_Missense_Mutation_p.A191D|PTPRD_ENST00000540109.1_Missense_Mutation_p.A191D|PTPRD_ENST00000397606.3_Missense_Mutation_p.A185D|PTPRD_ENST00000356435.5_Missense_Mutation_p.A191D|PTPRD_ENST00000537002.1_Missense_Mutation_p.A188D|PTPRD_ENST00000397617.3_Missense_Mutation_p.A185D|PTPRD_ENST00000397611.3_Missense_Mutation_p.A188D|PTPRD_ENST00000355233.5_Missense_Mutation_p.A191D|PTPRD_ENST00000358503.5_Missense_Mutation_p.A182D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	191	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A191D(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATCTGAAGGGCTCCTGTATG	0.428000										TSP Lung(15;0.13)			29	242					9.78306e-22	1.70997e-21	0.009535	1	0
DGKI	9162	broad.mit.edu	37	7	137172361	137172361	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:137172361G>C	ENST00000453654.1	-	23	2016	c.1477C>G	c.(1477-1479)Cag>Gag	p.Q493E	DGKI_ENST00000288490.5_Missense_Mutation_p.Q793E|DGKI_ENST00000446122.1_Missense_Mutation_p.Q775E|DGKI_ENST00000424189.2_Missense_Mutation_p.Q796E			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	793	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.Q793*(4)|p.Q793E(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTCACCTCCTGTAGGCGGTCT	0.388000													46	157					0	0	0.011902	0	0
PRDX1	5052	broad.mit.edu	37	1	45981335	45981335	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:45981335T>G	ENST00000262746.1	-	3	590	c.251A>C	c.(250-252)cAt>cCt	p.H84P	PRDX1_ENST00000319248.8_Missense_Mutation_p.H84P|PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000483583.1_5'UTR	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	84	Thioredoxin.				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity	p.H84P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					CCATGCTAGATGACAGAAGTG	0.413000													14	80					0	0	0.001855	0	0
SPATA31D3	389762	broad.mit.edu	37	9	84564728	84564728	+	RNA	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:84564728G>T	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							GCCCCAGGAAGTTGGACATTT	0.478000													4	31					0.00909568	0.00985762	0.009096	1	0
CNGA2	1260	broad.mit.edu	37	X	150912360	150912360	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:150912360T>A	ENST00000329903.4	+	6	1418	c.1385T>A	c.(1384-1386)cTg>cAg	p.L462Q		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	462					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.L462Q(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCTGGCCTGCTGGTAGAG	0.512000													47	53					0	0	0.003610	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325448	79325448	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:79325448G>T	ENST00000428286.1	-	8	1865	c.665C>A	c.(664-666)tCt>tAt	p.S222Y	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S581Y			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	581					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.S581Y(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATTTCTTTCAGAGTTATCTCT	0.438000													15	47					4.93089e-13	7.53677e-13	0.002450	1	0
GNAO1	2775	broad.mit.edu	37	16	56226147	56226147	+	Translation_Start_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:56226147C>A	ENST00000262494.7	+	0	260				GNAO1_ENST00000569295.1_3'UTR|GNAO1_ENST00000262493.6_De_novo_Start_InFrame	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AAGGGGCCACCATGGGATGTA	0.667000													3	13					0.004672	0.00511309	0.004672	1	0
C1orf173	127254	broad.mit.edu	37	1	75038387	75038387	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:75038387C>T	ENST00000326665.5	-	14	3225	c.3007G>A	c.(3007-3009)Gca>Aca	p.A1003T	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1003	Glu-rich.							p.A1003S(1)|p.A1003T(1)		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						ATCCGGCTTGCCTCTGCCTCT	0.532000													9	79					0	0	0.004482	0	0
ZNF99	7652	broad.mit.edu	37	19	22940339	22940339	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:22940339C>A	ENST00000397104.3	-	5	2098	c.2099G>T	c.(2098-2100)tGt>tTt	p.C700F	ZNF99_ENST00000596209.1_Missense_Mutation_p.C791F					zinc finger protein 99									p.C700F(1)		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)				ACATTCTTCACATTTATAGGG	0.348000													8	52					0.00307968	0.00340126	0.003080	1	0
LRP1B	53353	broad.mit.edu	37	2	141122277	141122277	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:141122277C>A	ENST00000389484.3	-	72	12055	c.11084G>T	c.(11083-11085)gGa>gTa	p.G3695V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3695	LDL-receptor class A 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G3695V(1)		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)		GTCGTCCTCTCCATCACACAC	0.393000										TSP Lung(27;0.18)			13	108					2.32078e-09	3.24283e-09	0.003163	1	0
OR2T33	391195	broad.mit.edu	37	1	248436797	248436797	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:248436797C>A	ENST00000318021.2	-	1	341	c.320G>T	c.(319-321)gGt>gTt	p.G107V		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G107V(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-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)			GCACTCTCCACCACCCAGTGT	0.592000													23	116					1.88708e-17	3.10021e-17	0.008361	1	0
TRBV6-1	28606	broad.mit.edu	37	7	142028318	142028318	+	RNA	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:142028318C>A	ENST00000390353.2	+	0	109																											CTCTGCAGGTCCAGTGAATGC	0.527000													16	115					1.3612e-06	1.72411e-06	0.003163	1	0
LDLRAD3	143458	broad.mit.edu	37	11	36057708	36057708	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:36057708C>G	ENST00000315571.5	+	2	123	c.102C>G	c.(100-102)aaC>aaG	p.N34K	LDLRAD3_ENST00000528989.1_Intron|LDLRAD3_ENST00000524419.1_Intron	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	34	LDL-receptor class A 1.					integral to membrane	receptor activity	p.N34K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				TACCAGGCAACTTCATGTGCA	0.597000													13	65					0	0	0.001368	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111799777	111799777	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:111799777C>A	ENST00000452346.2	+	18	2381	c.2378C>A	c.(2377-2379)cCt>cAt	p.P793H	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.P667H			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	793	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	p.P667H(1)|p.P522H(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCGGGTGGACCTTTATCTTGT	0.378000													46	86					1.41504e-22	2.50047e-22	0.011902	1	0
WEE1	7465	broad.mit.edu	37	11	9598729	9598729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:9598729G>T	ENST00000299613.6	+	5	1173	c.418G>T	c.(418-420)Gga>Tga	p.G140*	WEE1_ENST00000450114.2_Nonsense_Mutation_p.G354*	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	354					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	p.G354*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TGCAGTGCTTGGACAGCATTC	0.353000													18	99					2.94398e-08	3.94984e-08	0.007413	1	0
SMPD4	55627	broad.mit.edu	37	2	130929999	130929999	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:130929999C>A	ENST00000409031.1	-	8	1847	c.699G>T	c.(697-699)tgG>tgT	p.W233C	SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000431183.2_Missense_Mutation_p.W160C|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000339679.7_Missense_Mutation_p.W120C|SMPD4_ENST00000351288.6_Missense_Mutation_p.W233C|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000426662.2_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	194					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	p.W233C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	TGGGCAGGAACCATGACAGGT	0.582000													3	35					0.004672	0.00511309	0.004672	1	0
RBM41	55285	broad.mit.edu	37	X	106310851	106310851	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:106310851T>C	ENST00000372487.1	-	7	1174	c.1148A>G	c.(1147-1149)gAg>gGg	p.E383G	RBM41_ENST00000372479.3_Missense_Mutation_p.E383G	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	383	RRM.						nucleotide binding|RNA binding	p.E383G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						CTTTCCAAACTCTATCACCAA	0.348000													33	180					0	0	0.012213	0	0
WBSCR17	64409	broad.mit.edu	37	7	71135038	71135038	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:71135038C>T	ENST00000333538.5	+	8	1982	c.1348C>T	c.(1348-1350)Ctg>Ttg	p.L450L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	450						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L450L(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCAGTGGTACCTGGACCATGT	0.428000													5	201					0	0	0.000602	0	0
PTPRD	5789	broad.mit.edu	37	9	8449761	8449761	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:8449761G>A	ENST00000381196.4	-	31	4495	c.3952C>T	c.(3952-3954)Cct>Tct	p.P1318S	PTPRD_ENST00000360074.4_Missense_Mutation_p.P1305S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P911S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1318S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P897S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1318S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P908S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P897S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P908S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P912S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1296S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1318					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P1318S(2)|p.P789S(1)|p.P912S(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTTCTACAGGGTCTGTTGGG	0.448000										TSP Lung(15;0.13)			58	274					0	0	0.003610	0	0
TRIM2	23321	broad.mit.edu	37	4	154216897	154216897	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:154216897G>T	ENST00000338700.5	+	6	1284	c.1219G>T	c.(1219-1221)Gag>Tag	p.E407*	TRIM2_ENST00000437508.2_Nonsense_Mutation_p.E380*|TRIM2_ENST00000494872.1_3'UTR	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	380						cytoplasm	zinc ion binding	p.E407*(1)|p.E380*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GGCAGACGGGGAGATCCTGGA	0.567000													23	48					3.08376e-08	4.13355e-08	0.003330	1	0
TBX21	30009	broad.mit.edu	37	17	45821847	45821847	+	Splice_Site	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:45821847G>T	ENST00000177694.1	+	5	1138		c.e5-1			NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21						lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.?(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CTTCTCTCTAGATTACTCAGC	0.512000													25	49					2.27525e-19	3.85596e-19	0.003954	1	0
TEAD2	8463	broad.mit.edu	37	19	49858629	49858629	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:49858629G>A	ENST00000377214.4	-	4	770	c.408C>T	c.(406-408)tcC>tcT	p.S136S	TEAD2_ENST00000311227.2_Silent_p.S136S|TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000598810.1_Silent_p.S140S|TEAD2_ENST00000539846.1_Silent_p.S5S|TEAD2_ENST00000601519.1_Silent_p.S136S|TEAD2_ENST00000593945.1_Silent_p.S140S			Q15562	TEAD2_HUMAN	TEA domain family member 2	136					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.S136S(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GCTGGGCAGAGGACATGGTTG	0.592000													29	12					0	0	0.008361	0	0
COL24A1	255631	broad.mit.edu	37	1	86250028	86250028	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:86250028G>A	ENST00000370571.2	-	49	4447	c.4081C>T	c.(4081-4083)Caa>Taa	p.Q1361*	COL24A1_ENST00000436319.1_Nonsense_Mutation_p.Q1361*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1361	Collagen-like 16.				cell adhesion	collagen	extracellular matrix structural constituent	p.Q1361*(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTCCAGGTTGACCAGGTAGC	0.458000													51	61					0	0	0.003610	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795437	142795437	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:142795437C>A	ENST00000370498.1	-	2	994	c.241G>T	c.(241-243)Gtc>Ttc	p.V81F		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	81								p.R90R(1)|p.V81F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTGGACGGGATTGATG	0.453000													169	232					2.05284e-59	3.92423e-59	0.003610	1	0
OR10Z1	128368	broad.mit.edu	37	1	158576401	158576401	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:158576401C>A	ENST00000361284.1	+	1	173	c.173C>A	c.(172-174)cCc>cAc	p.P58H		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P58H(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGCACACCCCCATGTACCTC	0.517000													30	234					3.73988e-18	6.20743e-18	0.006320	1	0
NIPAL4	348938	broad.mit.edu	37	5	156890271	156890271	+	Silent	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:156890271C>G	ENST00000311946.7	+	2	509	c.393C>G	c.(391-393)ctC>ctG	p.L131L	NIPAL4_ENST00000521390.1_3'UTR|NIPAL4_ENST00000435489.2_Silent_p.L131L|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	131						integral to membrane	receptor activity	p.L69L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CTAGCTTCCTCATCGGCAGCA	0.587000													25	17					0	0	0.002780	0	0
NFATC3	4775	broad.mit.edu	37	16	68156554	68156554	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:68156554C>T	ENST00000349223.5	+	2	992	c.768C>T	c.(766-768)agC>agT	p.S256S	NFATC3_ENST00000575270.1_Silent_p.S256S|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.S256S|NFATC3_ENST00000329524.4_Silent_p.S256S	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	256	3 X SP repeats.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	p.S256S(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ATTGGCTGAGCCCCAGGCCAG	0.542000													18	35					0	0	0.004990	0	0
NLRP10	338322	broad.mit.edu	37	11	7982455	7982455	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:7982455G>T	ENST00000328600.2	-	2	865	c.704C>A	c.(703-705)aCa>aAa	p.T235K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	235	NACHT.						ATP binding	p.T235K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGAATCTCTGTGACAGGGGC	0.512000													20	27					3.51602e-12	5.28497e-12	0.008871	1	0
GPR101	83550	broad.mit.edu	37	X	136113727	136113727	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:136113727G>A	ENST00000298110.1	-	1	106	c.107C>T	c.(106-108)aCc>aTc	p.T36I		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	36						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T36I(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AACCAGCACGGTTGAGCGGAT	0.602000													12	74					0	0	0.010729	0	0
CD44	960	broad.mit.edu	37	11	35219769	35219769	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:35219769G>T	ENST00000428726.2	+	7	1021	c.898G>T	c.(898-900)Gat>Tat	p.D300Y	CD44_ENST00000449691.2_Missense_Mutation_p.D300Y|CD44_ENST00000360158.4_Intron|CD44_ENST00000528922.1_3'UTR|CD44_ENST00000433892.2_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.D300Y|CD44_ENST00000433354.2_Missense_Mutation_p.D300Y|CD44_ENST00000352818.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.D257Y|CD44_ENST00000526669.2_Intron|CD44_ENST00000263398.6_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	300	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	p.D300Y(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CATTGATGATGATGAAGATTT	0.378000													15	42					0.000219431	0.000253554	0.002450	1	0
HSPA13	6782	broad.mit.edu	37	21	15753637	15753637	+	Missense_Mutation	SNP	C	C	A	rs140867763		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr21:15753637C>A	ENST00000285667.3	-	2	320	c.253G>T	c.(253-255)Gta>Tta	p.V85L	HSPA13_ENST00000544452.1_5'UTR|HSPA13_ENST00000478035.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	85						endoplasmic reticulum|microsome	ATP binding	p.V85L(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GCCAGCTCTACGCTTTCATAT	0.403000													54	30					1.07234e-20	1.84759e-20	0.003610	1	0
PXK	54899	broad.mit.edu	37	3	58380797	58380797	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:58380797G>T	ENST00000463280.1	+	6	680	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	PXK_ENST00000536660.1_Nonsense_Mutation_p.E93*|PXK_ENST00000479241.1_Nonsense_Mutation_p.E213*|PXK_ENST00000484288.1_Nonsense_Mutation_p.E230*|PXK_ENST00000356151.2_Nonsense_Mutation_p.E230*|PXK_ENST00000302779.5_Nonsense_Mutation_p.E213*|PXK_ENST00000383715.4_Nonsense_Mutation_p.E213*|PXK_ENST00000383716.3_Nonsense_Mutation_p.E197*			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	230	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	p.E230*(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GATGTTTAACGAAAAGGGAAC	0.378000													19	93					1.56452e-12	2.36886e-12	0.007413	1	0
SKP1	6500	broad.mit.edu	37	5	133496754	133496754	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:133496754T>C	ENST00000353411.6	-	4	422	c.239A>G	c.(238-240)aAg>aGg	p.K80R	SKP1_ENST00000522855.1_Missense_Mutation_p.K80R|SKP1_ENST00000522552.1_Missense_Mutation_p.K80R|SKP1_ENST00000517625.1_Missense_Mutation_p.K80R|SKP1_ENST00000521216.1_Missense_Mutation_p.K80R	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	80					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.K80R(1)		large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCTGTTCGCTTTTCTTTGTT	0.423000													8	21					0	0	0.003080	0	0
TTC21B	79809	broad.mit.edu	37	2	166771854	166771854	+	Silent	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:166771854T>C	ENST00000243344.7	-	15	2132	c.1995A>G	c.(1993-1995)ctA>ctG	p.L665L		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	665						cilium axoneme|cytoplasm|cytoskeleton	binding	p.L665L(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTCCTTGGGCTAGAGCAAGGT	0.418000													39	208					0	0	0.004289	0	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127674	32127674	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr21:32127674T>C	ENST00000335093.3	-	1	72	c.23A>G	c.(22-24)aAc>aGc	p.N8S		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	8						intermediate filament		p.N8S(1)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						gccacagGAGTTGCCGTAGTA	0.537000													18	122					0	0	0.006122	0	0
DDI2	84301	broad.mit.edu	37	1	15959945	15959945	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:15959945A>G	ENST00000480945.1	+	4	688	c.517A>G	c.(517-519)Aga>Gga	p.R173G		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	173					proteolysis		aspartic-type endopeptidase activity	p.R173G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GAAATTTTCTAGAGTCCTGGT	0.398000													6	409					0	0	0.001168	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806152	97806152	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:97806152G>T	ENST00000358642.2	+	1	136	c.136G>T	c.(136-138)Gga>Tga	p.G46*		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G46*(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						GGGCAACCTTGGACTGATAGT	0.443000													111	176					3.89013e-33	7.23595e-33	0.003610	1	0
ARHGEF4	50649	broad.mit.edu	37	2	131688652	131688652	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:131688652G>C	ENST00000409359.1	+	3	3888	c.2690G>C	c.(2689-2691)tGc>tCc	p.C897S	ARHGEF4_ENST00000525839.1_Missense_Mutation_p.C41S|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.C41S|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.C41S|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.C41S|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.C41S			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	41					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	p.C41S(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GCCCTCCTCTGCATCTCTGCA	0.607000													8	25					0	0	0.004482	0	0
EPHB1	2047	broad.mit.edu	37	3	134967314	134967314	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:134967314C>G	ENST00000398015.3	+	14	3023	c.2653C>G	c.(2653-2655)Ccg>Gcg	p.P885A	EPHB1_ENST00000493838.1_Missense_Mutation_p.P446A	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	885						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.P885A(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GATCCGGAACCCGGCAAGTCT	0.552000													3	28					0	0	0.004672	0	0
ZNF454	285676	broad.mit.edu	37	5	178391974	178391974	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:178391974G>T	ENST00000320129.3	+	5	872	c.569G>T	c.(568-570)aGt>aTt	p.S190I	ZNF454_ENST00000519564.1_Missense_Mutation_p.S190I	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S190I(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TTCTCTAAGAGTTCAACTCTT	0.333000													24	20					3.5997e-14	5.63888e-14	0.002299	1	0
OR10K1	391109	broad.mit.edu	37	1	158436129	158436129	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:158436129T>A	ENST00000289451.2	+	1	858	c.778T>A	c.(778-780)Tta>Ata	p.L260I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L260I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTTCATCTACTTAAGGCCCAA	0.428000													9	124					0	0	0.004482	0	0
DYSF	8291	broad.mit.edu	37	2	71788954	71788954	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:71788954C>A	ENST00000258104.3	+	23	2512	c.2235C>A	c.(2233-2235)acC>acA	p.T745T	DYSF_ENST00000410020.3_Silent_p.T763T|DYSF_ENST00000409366.1_Silent_p.T746T|DYSF_ENST00000413539.2_Silent_p.T776T|DYSF_ENST00000409651.1_Silent_p.T777T|DYSF_ENST00000409582.3_Silent_p.T762T|DYSF_ENST00000394120.2_Silent_p.T746T|DYSF_ENST00000409744.1_Silent_p.T732T|DYSF_ENST00000429174.2_Silent_p.T745T|DYSF_ENST00000410041.1_Silent_p.T763T|DYSF_ENST00000409762.1_Silent_p.T762T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	745						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.T763T(1)|p.T745T(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGCTGCGCACCCATCACCTGA	0.637000													17	32					1.99824e-07	2.59914e-07	0.004990	1	0
KREMEN1	83999	broad.mit.edu	37	22	29537988	29537988	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr22:29537988C>T	ENST00000400338.2	+	9	1369	c.1316C>T	c.(1315-1317)tCg>tTg	p.S439L	KREMEN1_ENST00000400335.4_Missense_Mutation_p.S422L|KREMEN1_ENST00000327813.5_Missense_Mutation_p.S439L|KREMEN1_ENST00000407188.1_Missense_Mutation_p.S437L			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	437					cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding	p.S439L(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CCAGGGACTTCGGGGGAAATC	0.433000													6	59					0	0	0.003080	0	0
TMX3	54495	broad.mit.edu	37	18	66365210	66365210	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr18:66365210G>A	ENST00000299608.2	-	7	767	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C	TMX3_ENST00000443099.2_Missense_Mutation_p.R124C|TMX3_ENST00000562706.1_Missense_Mutation_p.R151C	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	151					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.R151C(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						AAAAATACACGGTGTCTCTTC	0.313000													3	22					0	0	0.009096	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1949933	1949933	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:1949933G>T	ENST00000382722.5	-	26	2885	c.2523C>A	c.(2521-2523)acC>acA	p.T841T	CACNA2D4_ENST00000588077.1_Silent_p.T777T|CACNA2D4_ENST00000587995.1_Silent_p.T816T|CACNA2D4_ENST00000585708.1_Silent_p.T777T|CACNA2D4_ENST00000585732.1_Silent_p.T702T|CACNA2D4_ENST00000586184.1_Silent_p.T841T	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	841						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.T841T(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCTTGTCCACGGTCACCGCCA	0.582000													27	24					2.70662e-09	3.77105e-09	0.009535	1	0
OR6C74	254783	broad.mit.edu	37	12	55641405	55641405	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:55641405C>A	ENST00000343870.4	+	1	424	c.334C>A	c.(334-336)Ctt>Att	p.L112I		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L112I(1)		central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TGAATTTTTTCTTCTGGCTGC	0.458000													31	220					5.52252e-06	6.76999e-06	0.010818	1	0
ELTD1	64123	broad.mit.edu	37	1	79403913	79403913	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:79403913A>T	ENST00000370742.3	-	5	511	c.448T>A	c.(448-450)Tct>Act	p.S150T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	150					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S150T(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCTGTCACAGAATTTCTATAG	0.328000													6	55					0	0	0.003080	0	0
WDR44	54521	broad.mit.edu	37	X	117577637	117577637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:117577637G>A	ENST00000254029.3	+	18	2894	c.2499G>A	c.(2497-2499)tgG>tgA	p.W833*	WDR44_ENST00000371822.5_Nonsense_Mutation_p.W744*|WDR44_ENST00000371825.3_Nonsense_Mutation_p.W825*	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	833						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		p.W833*(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						ATGACTTCTGGGAAGGTATTA	0.373000													13	82					0	0	0.001368	0	0
LRP1B	53353	broad.mit.edu	37	2	141027843	141027843	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:141027843C>G	ENST00000389484.3	-	86	14186	c.13215G>C	c.(13213-13215)caG>caC	p.Q4405H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4405	EGF-like 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGGGGTCCAGCTGGCATGTGC	0.408000										TSP Lung(27;0.18)			9	49					0	0	0.010729	0	0
EIF5B	9669	broad.mit.edu	37	2	99999328	99999328	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:99999328G>A	ENST00000289371.5	+	14	2417	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	739					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.E739K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCAGACAATTGAGTCTATCAA	0.368000													9	38					0	0	0.004482	0	0
COL4A6	1288	broad.mit.edu	37	X	107418907	107418907	+	Missense_Mutation	SNP	C	C	A	rs140519216	byFrequency	TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:107418907C>A	ENST00000334504.7	-	29	3040	c.2807G>T	c.(2806-2808)cGt>cTt	p.R936L	COL4A6_ENST00000372216.4_Missense_Mutation_p.R937L|COL4A6_ENST00000394872.2_Missense_Mutation_p.R937L|COL4A6_ENST00000538570.1_Missense_Mutation_p.R936L|COL4A6_ENST00000545689.1_Missense_Mutation_p.R936L	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	937	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.R936L(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGTACCAGCACGTCCAGATGG	0.428000									Alport syndrome with Diffuse Leiomyomatosis				45	38					1.06522e-23	1.8962e-23	0.013114	1	0
PCDHA3	56145	broad.mit.edu	37	5	140182007	140182007	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:140182007C>A	ENST00000522353.2	+	1	1225	c.1225C>A	c.(1225-1227)Ctg>Atg	p.L409M	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.L409M|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1												p.L409M(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCATTGGTGCTGGACAGCCC	0.632000													39	102					1.03484e-13	1.6003e-13	0.005524	1	0
FAT3	120114	broad.mit.edu	37	11	92087844	92087844	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:92087844A>G	ENST00000298047.6	+	1	2583	c.2566A>G	c.(2566-2568)Aga>Gga	p.R856G	FAT3_ENST00000541502.1_Missense_Mutation_p.R856G|FAT3_ENST00000525166.1_Missense_Mutation_p.R706G|FAT3_ENST00000409404.2_Missense_Mutation_p.R856G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	856	Cadherin 8.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R856G(2)		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)				AGTGGAAGCCAGAGACAAAGA	0.393000										TCGA Ovarian(4;0.039)			12	36					0	0	0.010729	0	0
C7orf62	219557	broad.mit.edu	37	7	88423952	88423952	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:88423952G>A	ENST00000297203.2	-	2	490	c.305C>T	c.(304-306)tCc>tTc	p.S102F	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	102								p.S102F(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GTCGCTGGAGGACTCGAGGAT	0.363000													8	32					0	0	0.003080	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			11	17					1.08611e-07	1.42681e-07	0.010729	1	0
ELAVL4	1996	broad.mit.edu	37	1	50610800	50610800	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:50610800G>T	ENST00000371824.1	+	2	438	c.181G>T	c.(181-183)Gaa>Taa	p.E61*	ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371827.1_Nonsense_Mutation_p.E61*|ELAVL4_ENST00000371819.1_Nonsense_Mutation_p.E66*|ELAVL4_ENST00000448907.2_Nonsense_Mutation_p.E64*|ELAVL4_ENST00000357083.4_Nonsense_Mutation_p.E78*|ELAVL4_ENST00000371823.4_Nonsense_Mutation_p.E61*|ELAVL4_ENST00000371821.1_Nonsense_Mutation_p.E66*			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	61	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	p.E61*(1)|p.E78*(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GACCCAAGAAGAATTCAGGAG	0.438000													14	93					1.05317e-09	1.4816e-09	0.002450	1	0
CDH23	64072	broad.mit.edu	37	10	73558956	73558956	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:73558956C>A	ENST00000224721.6	+	50	7163	c.7158C>A	c.(7156-7158)ccC>ccA	p.P2386P	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.P141P	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2381	Cadherin 22.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.P2386P(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGTCCCCGCCCCGGGCAGCTG	0.587000													12	21					4.3838e-07	5.63632e-07	0.001855	1	0
LRFN5	145581	broad.mit.edu	37	14	42357003	42357003	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:42357003C>A	ENST00000554171.1	+	5	3607	c.1175C>A	c.(1174-1176)cCt>cAt	p.P392H	LRFN5_ENST00000554120.1_Missense_Mutation_p.P392H|LRFN5_ENST00000298119.4_Missense_Mutation_p.P392H			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	392						integral to membrane		p.P392H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GAGCCTGATCCTGGTTCTTCA	0.388000										HNSCC(30;0.082)			8	35					0.00307968	0.00340126	0.003080	1	0
SMG1	23049	broad.mit.edu	37	16	18853097	18853097	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:18853097C>T	ENST00000446231.2	-	41	6898	c.6486G>A	c.(6484-6486)ctG>ctA	p.L2162L	SMG1_ENST00000389467.3_Silent_p.L2162L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2162	PI3K/PI4K.				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.L2158L(1)|p.L2162L(1)		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						TTCTCTCATCCAGATGTAAAT	0.393000													60	126					0	0	0.003610	0	0
OR4F6	390648	broad.mit.edu	37	15	102346731	102346731	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:102346731T>G	ENST00000328882.4	+	1	830	c.809T>G	c.(808-810)tTc>tGc	p.F270C		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F270C(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTTGATAAATTCCTTGCCATC	0.378000													5	116					0	0	0.000602	0	0
XIRP2	129446	broad.mit.edu	37	2	168102604	168102604	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:168102604C>A	ENST00000409195.1	+	9	4791	c.4702C>A	c.(4702-4704)Cct>Act	p.P1568T	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P1346T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P1568T|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1393					actin cytoskeleton organization	cell junction	actin binding	p.P1568T(1)		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						TATCCAGGCTCCTGGAATCAT	0.343000													24	45					6.44725e-10	9.16788e-10	0.002299	1	0
GPC6	10082	broad.mit.edu	37	13	94482694	94482694	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:94482694G>T	ENST00000377047.4	+	3	1222	c.607G>T	c.(607-609)Gtg>Ttg	p.V203L	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	203						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.V203L(1)|p.V203M(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ATTTGGAGACGTGCCCCGGAA	0.512000													23	36					3.8784e-16	6.2166e-16	0.012319	1	0
XPNPEP2	7512	broad.mit.edu	37	X	128896679	128896679	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:128896679A>C	ENST00000371106.3	+	19	1865	c.1673A>C	c.(1672-1674)tAc>tCc	p.Y558S		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	558					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	p.Y558S(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GAACCTGGTTACTATAAGGAT	0.547000													11	81					0	0	0.010729	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298568	125298568	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:125298568C>A	ENST00000538699.1	-	2	1420	c.1340G>T	c.(1339-1341)gGg>gTg	p.G447V	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G447V	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	447								p.G447V(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GAGAGGCCCCCCAGCCACAAA	0.557000													17	95					1.99824e-07	2.59914e-07	0.004990	1	0
PRG4	10216	broad.mit.edu	37	1	186277184	186277184	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:186277184C>T	ENST00000445192.2	+	7	2378	c.2333C>T	c.(2332-2334)cCt>cTt	p.P778L	PRG4_ENST00000367486.3_Missense_Mutation_p.P735L|PRG4_ENST00000367485.4_Missense_Mutation_p.P685L|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.P737L	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	778	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.P778L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCAACTACCCCTAAGGGGACT	0.602000													17	142					0	0	0.004007	0	0
MROH6	642475	broad.mit.edu	37	8	144652142	144652142	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:144652142C>T	ENST00000398882.3	-	7	1393	c.1137G>A	c.(1135-1137)acG>acA	p.T379T		NM_001100878.1	NP_001094348.1			maestro heat-like repeat family member 6									p.T379T(2)									AGGCCATAGCCGTGAGACGCT	0.657000													4	52					0	0	0.000602	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797728	31797728	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr21:31797728C>A	ENST00000390690.2	-	1	558	c.503G>T	c.(502-504)aGa>aTa	p.R168I		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	168						intermediate filament		p.R168I(1)		endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						GAAACCAGATCTACAGAATGG	0.383000													11	16					4.68919e-08	6.25657e-08	0.008291	1	0
TSHR	7253	broad.mit.edu	37	14	81554321	81554321	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:81554321T>A	ENST00000541158.2	+	5	663	c.341T>A	c.(340-342)tTa>tAa	p.L114*	TSHR_ENST00000342443.6_Nonsense_Mutation_p.L114*|TSHR_ENST00000298171.2_Nonsense_Mutation_p.L114*|TSHR_ENST00000554263.1_Nonsense_Mutation_p.L114*|TSHR_ENST00000554435.1_Nonsense_Mutation_p.L114*			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	114					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.L114*(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ACCAGGAACTTAACTTACATA	0.413000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						9	31					0	0	0.006214	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965810	88965810	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:88965810C>A	ENST00000333190.4	+	4	4123	c.3514C>A	c.(3514-3516)Caa>Aaa	p.Q1172K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1172						intracellular	zinc ion binding	p.Q1172K(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TATGCAGAAGCAACTCCTATC	0.468000										HNSCC(36;0.09)			9	63					0.000274275	0.000314418	0.004482	1	0
NELL1	4745	broad.mit.edu	37	11	21592381	21592381	+	Silent	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:21592381A>G	ENST00000298925.5	+	19	2289	c.2136A>G	c.(2134-2136)ccA>ccG	p.P712P	NELL1_ENST00000325319.5_Silent_p.P627P|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Silent_p.P637P|NELL1_ENST00000357134.5_Silent_p.P684P			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	684	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.P684P(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TCTGTTGCCCAGAATGTGACA	0.458000													15	94					0	0	0.002450	0	0
MTMR14	64419	broad.mit.edu	37	3	9710414	9710414	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:9710414G>T	ENST00000296003.4	+	4	551	c.429G>T	c.(427-429)agG>agT	p.R143S	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Missense_Mutation_p.R143S|MTMR14_ENST00000353332.5_Missense_Mutation_p.R143S	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	143						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	p.R143S(1)		breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ACATTTGCAGGTCGGCCACAC	0.483000													36	75					8.73648e-17	1.4176e-16	0.004289	1	0
OR1C1	26188	broad.mit.edu	37	1	247921131	247921131	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:247921131G>C	ENST00000408896.2	-	1	851	c.578C>G	c.(577-579)tCc>tGc	p.S193C		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S193C(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TACATTGAAGGAGACGTCAGA	0.453000													10	27					0	0	0.008291	0	0
DCAF8	50717	broad.mit.edu	37	1	160209920	160209920	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:160209920T>G	ENST00000368073.3	-	4	724	c.290A>C	c.(289-291)gAc>gCc	p.D97A	DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000326837.2_Missense_Mutation_p.D97A|DCAF8_ENST00000556710.1_Missense_Mutation_p.D251A|DCAF8_ENST00000368074.1_Missense_Mutation_p.D97A			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	97						CUL4 RING ubiquitin ligase complex	protein binding	p.D251A(1)|p.D97A(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						ctctGAGCGGTCATGGACTCG	0.532000													9	16					0	0	0.004482	0	0
CALCR	799	broad.mit.edu	37	7	93098112	93098112	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:93098112A>G	ENST00000359558.2	-	8	789	c.490T>C	c.(490-492)Tat>Cat	p.Y164H	CALCR_ENST00000426151.1_Missense_Mutation_p.Y146H|CALCR_ENST00000394441.1_Missense_Mutation_p.Y146H|CALCR_ENST00000360249.4_Missense_Mutation_p.Y146H|CALCR_ENST00000421592.1_Missense_Mutation_p.Y146H	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	146					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.Y146H(1)|p.Y164H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TACAGAACATATGCATTCTGG	0.318000													27	40					0	0	0.004656	0	0
HDAC4	9759	broad.mit.edu	37	2	239974810	239974810	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:239974810C>A	ENST00000345617.3	-	27	4029	c.3238G>T	c.(3238-3240)Gag>Tag	p.E1080*	HDAC4_ENST00000543185.1_Nonsense_Mutation_p.E664*	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1080	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|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)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.E1080*(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGCGGCTCCTCTTCCATGGGC	0.577000													17	31					8.81451e-21	1.52231e-20	0.008871	1	0
PCK2	5106	broad.mit.edu	37	14	24566274	24566274	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:24566274C>G	ENST00000216780.4	+	2	471	c.203C>G	c.(202-204)gCt>gGt	p.A68G	PCK2_ENST00000396973.4_Missense_Mutation_p.A68G|PCK2_ENST00000561286.1_Intron|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000559250.1_Missense_Mutation_p.A80G|PCK2_ENST00000545054.2_5'UTR	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	68					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.A68G(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGAACTGAGGCTGAGAATACT	0.567000													11	96					0	0	0.010729	0	0
PAG1	55824	broad.mit.edu	37	8	81897386	81897386	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:81897386C>G	ENST00000220597.4	-	7	1211	c.501G>C	c.(499-501)aaG>aaC	p.K167N		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	167					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	p.K167N(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			AGGAGCTGTCCTTGAGCACTT	0.572000													5	76					0	0	0.001168	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565079	58565079	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:58565079A>T	ENST00000282326.1	+	6	1134	c.887A>T	c.(886-888)gAc>gTc	p.D296V		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	296					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D296V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CAGTGTGCCGACTGTGGGATG	0.632000													37	23					0	0	0.006230	0	0
STARD3	10948	broad.mit.edu	37	17	37817323	37817323	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:37817323C>T	ENST00000336308.5	+	13	1342	c.1124C>T	c.(1123-1125)aCg>aTg	p.T375M	STARD3_ENST00000544210.2_Missense_Mutation_p.T375M|STARD3_ENST00000580611.1_Missense_Mutation_p.T349M|STARD3_ENST00000394250.4_Missense_Mutation_p.T357M	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	375	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity	p.T375M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAGCCCCCGACGCACAAATAT	0.627000													7	32					0	0	0.001984	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603728	13603728	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:13603728C>T	ENST00000040738.5	-	10	4931	c.4796G>A	c.(4795-4797)gGa>gAa	p.G1599E		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1599							DNA binding	p.G1599E(1)									TTCAGCAAATCCCTCTGTGAC	0.498000													11	45					0	0	0.010729	0	0
LRRC7	57554	broad.mit.edu	37	1	70504590	70504590	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:70504590G>T	ENST00000310961.5	+	22	3402	c.2984G>T	c.(2983-2985)gGt>gTt	p.G995V	LRRC7_ENST00000415775.2_Missense_Mutation_p.G274V|LRRC7_ENST00000035383.5_Missense_Mutation_p.G990V			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	990						centrosome|focal adhesion|nucleolus	protein binding	p.G990V(1)		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						CCAGAGCATGGTATGTCCAGT	0.458000													14	54					9.31168e-06	1.13479e-05	0.001855	1	0
TCL6	27004	broad.mit.edu	37	14	96131326	96131326	+	RNA	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:96131326C>A	ENST00000467865.1	+	0	1734				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		ggatttgaacccaggtctcgt	0.567000			T	TRA@	T-ALL								4	12					0.00909568	0.00985762	0.009096	1	0
FRZB	2487	broad.mit.edu	37	2	183707257	183707257	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:183707257T>A	ENST00000295113.4	-	3	1150	c.541A>T	c.(541-543)Aag>Tag	p.K181*		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	181	NTR.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.K181*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CTAATAGGCTTACATTTACAG	0.343000													32	45					0	0	0.002836	0	0
CDC73	79577	broad.mit.edu	37	1	193205393	193205393	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:193205393G>T	ENST00000367435.3	+	15	1508	c.1324G>T	c.(1324-1326)Gtt>Ttt	p.V442F	CDC73_ENST00000477868.1_Intron	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	442					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.V442F(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TAGGGACCGCGTTGTAGCCGT	0.463000													19	102					1.56452e-12	2.36886e-12	0.007413	1	0
DRD3	1814	broad.mit.edu	37	3	113850212	113850212	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:113850212C>G	ENST00000383673.2	-	6	1189	c.759G>C	c.(757-759)aaG>aaC	p.K253N	DRD3_ENST00000467632.1_Missense_Mutation_p.K253N|DRD3_ENST00000460779.1_Missense_Mutation_p.K253N|DRD3_ENST00000295881.7_Missense_Mutation_p.K253N	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	253					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.K253N(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TGTAGTAACGCTTCAGCTCCA	0.507000													18	123					0	0	0.006122	0	0
CCDC18	343099	broad.mit.edu	37	1	93672778	93672778	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:93672778G>A	ENST00000343253.7	+	9	1534	c.1032G>A	c.(1030-1032)gaG>gaA	p.E344E	CCDC18_ENST00000557479.1_Silent_p.E462E|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_Silent_p.E143E|CCDC18_ENST00000401026.3_Silent_p.E344E			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	344								p.E462E(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGAAGCTAGAGAGTGAGTTAG	0.348000													5	47					0	0	0.000602	0	0
KCNA4	3739	broad.mit.edu	37	11	30033267	30033267	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:30033267G>T	ENST00000328224.6	-	2	2192	c.959C>A	c.(958-960)tCc>tAc	p.S320Y		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	320						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.S320Y(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GATGACAATGGAGATTAAGAT	0.483000													22	41					6.44725e-10	9.16788e-10	0.002299	1	0
SOX30	11063	broad.mit.edu	37	5	157065668	157065668	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:157065668G>T	ENST00000265007.6	-	4	1791	c.1450C>A	c.(1450-1452)Ctt>Att	p.L484I	SOX30_ENST00000311371.5_Intron|SOX30_ENST00000519442.1_Missense_Mutation_p.L179I	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	484					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.L484I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCTGGAAAAGTGTGACAGGG	0.517000													7	14					8.12818e-05	9.52121e-05	0.001984	1	0
COL6A6	131873	broad.mit.edu	37	3	130293335	130293335	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:130293335C>G	ENST00000358511.6	+	7	3544	c.3513C>G	c.(3511-3513)atC>atG	p.I1171M	COL6A6_ENST00000453409.2_Missense_Mutation_p.I1171M	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1171	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen		p.I1171M(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						ATAAAAGGATCGTTCGCAACA	0.458000													24	49					0	0	0.003330	0	0
OR51F2	119694	broad.mit.edu	37	11	4843569	4843569	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:4843569C>T	ENST00000322110.5	+	1	1019	c.954C>T	c.(952-954)atC>atT	p.I318I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I318I(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCCATTATCAAGGTCTTAA	0.363000													13	104					0	0	0.001855	0	0
KIAA1211	57482	broad.mit.edu	37	4	57189609	57189609	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:57189609C>T	ENST00000504228.1	+	7	3359	c.3254C>T	c.(3253-3255)gCt>gTt	p.A1085V	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A1078V|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A1085V			Q6ZU35	K1211_HUMAN	KIAA1211	1085								p.A1085V(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)					GTGGAAACTGCTCAGCCGCTG	0.517000													42	46					0	0	0.007835	0	0
MYO19	80179	broad.mit.edu	37	17	34883451	34883451	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:34883451G>A	ENST00000431794.3	-	5	753	c.231C>T	c.(229-231)ccC>ccT	p.P77P	MYO19_ENST00000544606.1_Intron|MYO19_ENST00000268852.9_Silent_p.P77P|MYO19_ENST00000586007.1_Silent_p.P77P	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	77	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	p.P77P(2)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAGGCTTGAAGGGGTTCAAGG	0.597000													5	39					0	0	0.001168	0	0
IQGAP2	10788	broad.mit.edu	37	5	75954415	75954415	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:75954415A>G	ENST00000274364.6	+	21	2749	c.2452A>G	c.(2452-2454)Aat>Gat	p.N818D	IQGAP2_ENST00000502745.1_Missense_Mutation_p.N314D|IQGAP2_ENST00000396234.3_Missense_Mutation_p.N314D|IQGAP2_ENST00000379730.3_Missense_Mutation_p.N320D	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	818					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.N818D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GATCAGGGCCAATCAACAGCT	0.463000													6	50					0	0	0.001168	0	0
MGAT5B	146664	broad.mit.edu	37	17	74942515	74942515	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:74942515G>T	ENST00000569840.2	+	16	2480	c.1906G>T	c.(1906-1908)Gcc>Tcc	p.A636S	MGAT5B_ENST00000428789.2_Missense_Mutation_p.A645S|MGAT5B_ENST00000301618.4_Missense_Mutation_p.A634S	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	636						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.A634S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGGATCCACGCCTACATCCA	0.642000													4	28					1.23904e-05	1.49739e-05	0.000602	1	0
PRUNE2	158471	broad.mit.edu	37	9	79323268	79323268	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:79323268C>A	ENST00000428286.1	-	8	4045	c.2845G>T	c.(2845-2847)Ggg>Tgg	p.G949W	PRUNE2_ENST00000376718.3_Missense_Mutation_p.G1308W			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1308					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.G1308W(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGAAAATACCCTGGATTCTCA	0.507000													28	50					2.48779e-11	3.65971e-11	0.005443	1	0
NTM	50863	broad.mit.edu	37	11	131781455	131781455	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:131781455C>A	ENST00000374786.1	+	1	559	c.80C>A	c.(79-81)aCa>aAa	p.T27K	NTM_ENST00000374784.1_Missense_Mutation_p.T27K|NTM_ENST00000425719.2_Missense_Mutation_p.T27K|NTM_ENST00000539799.1_Intron|NTM_ENST00000427481.2_Intron|NTM_ENST00000374791.3_Intron	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	27					cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.T27K(1)|p.?(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CTTGTACCCACAGGAGTGCCC	0.627000											OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	54					6.72482e-11	9.7834e-11	0.003163	1	0
GRIN2B	2904	broad.mit.edu	37	12	13715993	13715993	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:13715993G>C	ENST00000279593.3	-	13	4388	c.4179C>G	c.(4177-4179)gaC>gaG	p.D1393E		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1393					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	p.D1393E(1)		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)	AGCACTGGTCGTCCCCAAAAG	0.617000													15	22					0	0	0.003163	0	0
COL3A1	1281	broad.mit.edu	37	2	189874906	189874906	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:189874906G>A	ENST00000304636.3	+	49	3996	c.3826G>A	c.(3826-3828)Gaa>Aaa	p.E1276K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E973K	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1276	Fibrillar collagen NC1.				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.E1276K(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)	CTATTCAGGAGAATACTGGGT	0.358000													7	60					0	0	0.001984	0	0
TOM1L1	10040	broad.mit.edu	37	17	52991148	52991148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:52991148G>T	ENST00000575882.1	+	5	765	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	TOM1L1_ENST00000572405.1_Nonsense_Mutation_p.E103*|TOM1L1_ENST00000575333.1_Nonsense_Mutation_p.E138*|TOM1L1_ENST00000570371.1_Nonsense_Mutation_p.E138*|TOM1L1_ENST00000540336.1_Nonsense_Mutation_p.E61*|TOM1L1_ENST00000348161.4_Nonsense_Mutation_p.E61*|TOM1L1_ENST00000445275.2_Nonsense_Mutation_p.E138*|TOM1L1_ENST00000536554.1_Nonsense_Mutation_p.E61*|TOM1L1_ENST00000572158.1_Nonsense_Mutation_p.E131*	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	138	VHS.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	p.E138*(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GGATGTAAGCGAAGTCAAAGA	0.448000													29	78					3.99451e-17	6.51073e-17	0.009535	1	0
SVOP	55530	broad.mit.edu	37	12	109306390	109306390	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:109306390C>T	ENST00000299134.5	-	14	1371	c.1372G>A	c.(1372-1374)Ggg>Agg	p.G458R		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						GCCCCACTCCCGGTGGCTGGA	0.612000													47	113					0	0	0.003610	0	0
LOC653786	653786	broad.mit.edu	37	16	22558209	22558209	+	RNA	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:22558209G>T	ENST00000550753.1	+	0	1191					NR_003676.2																						TGAAAGAAAAGGGTGCTGGGG	0.448000													6	13					3.59834e-05	4.26328e-05	0.001168	1	0
EPHA3	2042	broad.mit.edu	37	3	89259253	89259253	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:89259253G>T	ENST00000336596.2	+	3	622	c.397G>T	c.(397-399)Gtg>Ttg	p.V133L	EPHA3_ENST00000452448.2_Missense_Mutation_p.V133L|EPHA3_ENST00000494014.1_Missense_Mutation_p.V133L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	133						extracellular region|integral to plasma membrane	ATP binding	p.V133L(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGATCATGGGGTGAAATTTCG	0.423000										TSP Lung(6;0.00050)			44	99					3.68427e-32	6.84424e-32	0.010771	1	0
BTD	686	broad.mit.edu	37	3	15643552	15643552	+	Translation_Start_Site	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:15643552T>A	ENST00000383778.4	+	0	77				BTD_ENST00000437172.1_Intron|BTD_ENST00000449107.1_Intron|BTD_ENST00000303498.5_Intron			P43251	BTD_HUMAN	biotinidase						central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TGGGGCTGTTTGTGCGTTGCT	0.582000													4	4					0	0	0.009096	0	0
SORCS1	114815	broad.mit.edu	37	10	108380238	108380238	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:108380238G>T	ENST00000263054.6	-	20	2751	c.2744C>A	c.(2743-2745)cCc>cAc	p.P915H	SORCS1_ENST00000369698.1_Missense_Mutation_p.P450H|SORCS1_ENST00000344440.6_Missense_Mutation_p.P915H	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	915						integral to membrane	neuropeptide receptor activity|protein binding	p.P915H(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CACTTGGCTGGGCCACAGCAC	0.547000													52	43					6.81593e-30	1.24858e-29	0.003610	1	0
CAMSAP2	23271	broad.mit.edu	37	1	200817577	200817577	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:200817577G>T	ENST00000358823.2	+	11	1950	c.1680G>T	c.(1678-1680)caG>caT	p.Q560H	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.Q544H|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.Q571H	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	571						cytoplasm|microtubule	protein binding	p.Q560H(1)									ATACACCTCAGCCAGACCAAA	0.343000													15	47					2.31682e-05	2.76986e-05	0.003163	1	0
CLCNKA	1187	broad.mit.edu	37	1	16356507	16356507	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:16356507C>A	ENST00000375692.1	+	15	1473	c.1345C>A	c.(1345-1347)Cct>Act	p.P449T	CLCNKA_ENST00000439316.2_Missense_Mutation_p.P406T|CLCNKA_ENST00000420078.1_Missense_Mutation_p.P449T|CLCNKA_ENST00000331433.4_Missense_Mutation_p.P449T|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	449					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.P449T(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CGTCGCCTTCCCTGAGGGCAT	0.667000													30	28					1.06801e-11	1.58236e-11	0.009535	1	0
CPN2	1370	broad.mit.edu	37	3	194062503	194062503	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:194062503G>T	ENST00000323830.3	-	2	1018	c.929C>A	c.(928-930)gCc>gAc	p.A310D	CPN2_ENST00000429275.1_Missense_Mutation_p.A310D	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	310					protein stabilization	extracellular region	enzyme regulator activity	p.A310D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGACAGGTGGGCAAAGGTGCC	0.592000													26	23					3.01185e-09	4.17624e-09	0.003954	1	0
OTC	5009	broad.mit.edu	37	X	38229080	38229080	+	Missense_Mutation	SNP	G	G	T	rs72554337		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:38229080G>T	ENST00000039007.4	+	3	400	c.248G>T	c.(247-249)gGc>gTc	p.G83V	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	83			G -> D (in OTCD).|G -> R (in OTCD; neonatal).		arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	p.G83V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	AAGTCCTTAGGCATGATTTTT	0.313000													25	35					3.73988e-18	6.20743e-18	0.006320	1	0
ZNF385D	79750	broad.mit.edu	37	3	21478591	21478591	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:21478591T>C	ENST00000281523.2	-	5	1062	c.544A>G	c.(544-546)Acg>Gcg	p.T182A	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	182	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding	p.T182A(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GTGGCTGTCGTTGGGCTTTTT	0.468000													6	152					0	0	0.001168	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987854	154987854	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:154987854G>T	ENST00000368426.3	+	3	855	c.718G>T	c.(718-720)Ggc>Tgc	p.G240C	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.G240C|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.G274C|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.G240C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	240					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.G240C(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGAGGTGGCGGGCAGAGTGGG	0.652000													7	53					8.12818e-05	9.52121e-05	0.001984	1	0
PCDHA1	56147	broad.mit.edu	37	5	140166920	140166920	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:140166920G>T	ENST00000504120.2	+	1	1045	c.1045G>T	c.(1045-1047)Gaa>Taa	p.E349*	PCDHA1_ENST00000394633.3_Nonsense_Mutation_p.E349*|PCDHA1_ENST00000378133.3_Nonsense_Mutation_p.E349*	NM_018900.2	NP_061723.1												p.E349*(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATGCTCCAGAACTGGCGGT	0.473000													35	25					6.05902e-23	1.0746e-22	0.003755	1	0
FCRL5	83416	broad.mit.edu	37	1	157497606	157497606	+	Silent	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:157497606A>G	ENST00000361835.3	-	9	1918	c.1761T>C	c.(1759-1761)tgT>tgC	p.C587C	FCRL5_ENST00000368191.3_Silent_p.C502C|FCRL5_ENST00000368190.3_Silent_p.C587C|FCRL5_ENST00000356953.4_Silent_p.C587C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	587	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity	p.C587C(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TCGGGGCCTCACAGTGAAGCT	0.587000													4	86					0	0	0.000602	0	0
CLCN1	1180	broad.mit.edu	37	7	143016890	143016890	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:143016890G>A	ENST00000343257.2	+	2	310	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	75					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.D75N(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CAGGGAGCAGGACATAGGGAT	0.443000													5	144					0	0	0.001168	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492516	74492516	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:74492516G>T	ENST00000354431.4	-	8	2047	c.1856C>A	c.(1855-1857)cCc>cAc	p.P619H	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P619H	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	619								p.P619H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CAGTCCATTGGGAACTTTAAA	0.289000													7	44					5.18039e-06	6.40477e-06	0.003080	1	0
ABCC11	85320	broad.mit.edu	37	16	48242392	48242392	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:48242392C>A	ENST00000394747.1	-	11	1973	c.1624G>T	c.(1624-1626)Gtc>Ttc	p.V542F	ABCC11_ENST00000394748.1_Missense_Mutation_p.V542F|ABCC11_ENST00000356608.2_Missense_Mutation_p.V542F|ABCC11_ENST00000353782.5_Missense_Mutation_p.V542F|ABCC11_ENST00000537808.1_Missense_Mutation_p.V542F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	542	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V542F(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TTGCCGCAGACCCCTAACATC	0.572000													5	57					1.024e-07	1.35011e-07	0.000602	1	0
ACAP2	23527	broad.mit.edu	37	3	195012484	195012484	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:195012484C>G	ENST00000326793.6	-	20	2244	c.2014G>C	c.(2014-2016)Gtc>Ctc	p.V672L		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	672					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.V672L(1)		cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CGCCCTTGGACATCTCTTTGG	0.418000													35	81					0	0	0.004878	0	0
IFT81	28981	broad.mit.edu	37	12	110628820	110628820	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:110628820G>C	ENST00000242591.5	+	13	1940	c.1434G>C	c.(1432-1434)atG>atC	p.M478I	IFT81_ENST00000552912.1_Missense_Mutation_p.M478I	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	478					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		p.M478I(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TTGATGAAATGAAAGGACGAA	0.343000													15	69					0	0	0.002450	0	0
IFT140	9742	broad.mit.edu	37	16	1608043	1608043	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:1608043C>A	ENST00000426508.2	-	19	2655	c.2292G>T	c.(2290-2292)ggG>ggT	p.G764G	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	764								p.G764G(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGTCCTCCAGCCCCACAAAGT	0.567000													45	107					4.14194e-30	7.60667e-30	0.011902	1	0
TPO	7173	broad.mit.edu	37	2	1488564	1488564	+	Missense_Mutation	SNP	C	C	A	rs150489706		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:1488564C>A	ENST00000345913.4	+	9	1626	c.1535C>A	c.(1534-1536)cCc>cAc	p.P512H	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Missense_Mutation_p.P512H|TPO_ENST00000329066.4_Missense_Mutation_p.P512H|TPO_ENST00000382201.3_Missense_Mutation_p.P512H|TPO_ENST00000349624.3_Missense_Mutation_p.P339H|TPO_ENST00000337415.3_Missense_Mutation_p.P512H|TPO_ENST00000382198.1_Missense_Mutation_p.P339H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	512					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.P512H(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)	CAGGAGCACCCCGACCTGCCC	0.647000													5	33					1.23904e-05	1.49739e-05	0.000602	1	0
MAGI1	9223	broad.mit.edu	37	3	65349168	65349168	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:65349168C>A	ENST00000330909.8	-	22	3550	c.3551G>T	c.(3550-3552)gGt>gTt	p.G1184V	MAGI1_ENST00000483466.1_Missense_Mutation_p.G1185V|MAGI1_ENST00000497477.2_Missense_Mutation_p.G1089V|MAGI1_ENST00000402939.2_Missense_Mutation_p.G1156V	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1185	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.G1156V(1)|p.G1185V(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCCGCAGGACCGTCCTCTGC	0.502000													210	350					7.49036e-103	1.44137e-102	0.003610	1	0
MEFV	4210	broad.mit.edu	37	16	3304165	3304165	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:3304165C>A	ENST00000219596.1	-	2	942	c.903G>T	c.(901-903)tcG>tcT	p.S301S	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	301					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.S301S(1)		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)	taccggtgacCGAATGTTCTG	0.562000													25	52					2.39556e-15	3.81029e-15	0.002780	1	0
PKIA	5569	broad.mit.edu	37	8	79513982	79513982	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:79513982G>T	ENST00000396418.2	+	4	643	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	PKIA_ENST00000352966.5_Nonsense_Mutation_p.E53*|PKIA_ENST00000518467.1_Nonsense_Mutation_p.E53*	NM_006823.3|NM_181839.2	NP_006814.1|NP_862822.1	P61925	IPKA_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor alpha	53							cAMP-dependent protein kinase inhibitor activity	p.E53*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						TGCAGAAGGTGAAGAAGATGC	0.388000													15	9					1.3612e-06	1.72411e-06	0.003163	1	0
PAGE5	90737	broad.mit.edu	37	X	55249084	55249084	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:55249084T>C	ENST00000289619.5	+	4	526	c.281T>C	c.(280-282)cTg>cCg	p.L94P	PAGE5_ENST00000374955.3_Missense_Mutation_p.L74P|PAGE5_ENST00000374952.1_Missense_Mutation_p.L57P	NM_130467.3	NP_569734.2	Q96GU1	GGEE1_HUMAN	P antigen family, member 5 (prostate associated)	94								p.L94P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						CAACAGGAACTGGCTCTGCTT	0.418000													4	204					0	0	0.000602	0	0
PSMD3	5709	broad.mit.edu	37	17	38144947	38144947	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:38144947C>T	ENST00000264639.4	+	4	735	c.561C>T	c.(559-561)atC>atT	p.I187I	PSMD3_ENST00000541736.1_Silent_p.I49I	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	187					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	p.I187I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CACAGAAGATCTCTGATGATC	0.483000													6	58					0	0	0.001984	0	0
ZNF761	388561	broad.mit.edu	37	19	53950458	53950458	+	RNA	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:53950458C>G	ENST00000454407.1	+	0	390							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGATTGACTTCTAAAGACTCT	0.458000													4	73					0	0	0.009096	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20127060	20127060	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr22:20127060G>T	ENST00000334554.7	+	3	427	c.286G>T	c.(286-288)Gtg>Ttg	p.V96L	ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.V96L|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.V96L	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	96						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	p.V96L(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GAACGTGGATGTGCGAGGTAT	0.592000													5	26					0.00116845	0.00131043	0.001168	1	0
BCRP7	100133163	broad.mit.edu	37	22	18844930	18844930	+	RNA	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr22:18844930G>T	ENST00000412938.1	+	0	3180																											CGTCCATCTCGCTCATCATCA	0.572000													6	21					5.18039e-06	6.40477e-06	0.003080	1	0
AC010731.4	0	broad.mit.edu	37	2	207509200	207509200	+	RNA	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:207509200G>T	ENST00000543490.1	+	0	415																											TCTACCTGAAGTCATCTGAGA	0.488000													15	37					1.3612e-06	1.72411e-06	0.003163	1	0
AFF3	3899	broad.mit.edu	37	2	100628032	100628032	+	Splice_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:100628032C>A	ENST00000356421.2	-	3	198	c.53_splice	c.e3-1	p.G19_splice	AFF3_ENST00000317233.4_Intron|AFF3_ENST00000409236.1_Intron|AFF3_ENST00000409579.1_Splice_Site_p.G19_splice	NM_001025108.1	NP_001020279.1	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	17					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G19C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ATGTCTTCACCCCTGCAAGAA	0.428000													27	83					4.22769e-11	6.19406e-11	0.006320	1	0
LDB2	9079	broad.mit.edu	37	4	16899977	16899977	+	Splice_Site	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:16899977C>T	ENST00000502640.1	-	1	280	c.132_splice	c.e1+1	p.E44_splice	LDB2_ENST00000304523.5_Splice_Site_p.E44_splice|LDB2_ENST00000515064.1_Splice_Site_p.E44_splice|LDB2_ENST00000441778.2_Splice_Site_p.E44_splice			O43679	LDB2_HUMAN	LIM domain binding 2	44							LIM domain binding|transcription cofactor activity	p.E44E(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AAGTACTTACCTCTGTGCGAG	0.448000													37	47					0	0	0.004289	0	0
FAT4	79633	broad.mit.edu	37	4	126320037	126320037	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:126320037G>A	ENST00000394329.3	+	2	5287	c.5274G>A	c.(5272-5274)aaG>aaA	p.K1758K	FAT4_ENST00000335110.5_Silent_p.K56K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1758	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K1758K(2)		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						ATGGCTCTAAGATTATGCAGC	0.418000													63	95					0	0	0.003610	0	0
CDH18	1016	broad.mit.edu	37	5	19473540	19473540	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:19473540G>T	ENST00000507958.1	-	15	3158	c.2168C>A	c.(2167-2169)gCa>gAa	p.A723E	CDH18_ENST00000274170.4_Missense_Mutation_p.A723E|CDH18_ENST00000382275.1_Missense_Mutation_p.A723E|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	723					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A723E(2)|p.A723V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTCTAGGTCTGCTTCTGCCAG	0.483000													11	75					3.86212e-05	4.56089e-05	0.008291	1	0
AK4	205	broad.mit.edu	37	1	65691779	65691779	+	Silent	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:65691779G>C	ENST00000395334.2	+	6	949	c.591G>C	c.(589-591)acG>acC	p.T197T	AK4_ENST00000545314.1_Silent_p.T197T|AK4_ENST00000327299.7_Silent_p.T197T|AK4_ENST00000546702.1_Silent_p.T145T	NM_001005353.2	NP_001005353.1	P27144	KAD4_HUMAN	adenylate kinase 4	197						mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding	p.T197T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						TTTCCGGAACGGAGACGAACA	0.438000													7	34					0	0	0.004482	0	0
ABI3BP	25890	broad.mit.edu	37	3	100566448	100566448	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:100566448G>T	ENST00000471714.1	-	19	1776	c.1667C>A	c.(1666-1668)cCg>cAg	p.P556Q	ABI3BP_ENST00000495063.1_Missense_Mutation_p.P556Q|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P507Q			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	507	Pro-rich.					extracellular space		p.P556Q(1)|p.P508L(1)|p.P508Q(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATTATTACCCGGTGTTGTCCA	0.373000													40	241					1.47244e-24	2.63404e-24	0.006230	1	0
PARN	5073	broad.mit.edu	37	16	14680212	14680212	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:14680212T>G	ENST00000437198.2	-	14	1066	c.925A>C	c.(925-927)Agt>Cgt	p.S309R	PARN_ENST00000539279.1_Missense_Mutation_p.S134R|PARN_ENST00000420015.2_Missense_Mutation_p.S263R|PARN_ENST00000341484.7_Missense_Mutation_p.S248R	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	309					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	p.S309R(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TTAAACTCACTTAAGTCCTAA	0.383000													3	4					0	0	0.004672	0	0
RELN	5649	broad.mit.edu	37	7	103185752	103185752	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:103185752G>A	ENST00000428762.1	-	42	6501	c.6342C>T	c.(6340-6342)gcC>gcT	p.A2114A	RELN_ENST00000343529.5_Silent_p.A2114A|RELN_ENST00000424685.2_Silent_p.A2114A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2114					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.A2114A(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCTGAGAGCCGGCAGGGTAAA	0.453000													10	46					0	0	0.006214	0	0
CACNA1C	775	broad.mit.edu	37	12	2791141	2791141	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:2791141G>T	ENST00000399617.1	+	43	5470	c.5470G>T	c.(5470-5472)Gat>Tat	p.D1824Y	CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D1824Y	NM_001167624.1	NP_001161096.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1872					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.D1824Y(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GATGTGTGAGGATCTGGAGCT	0.567000													46	22					2.20914e-33	4.11975e-33	0.011902	1	0
COL4A5	1287	broad.mit.edu	37	X	107911595	107911595	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:107911595C>A	ENST00000328300.6	+	41	3895	c.3651C>A	c.(3649-3651)ggC>ggA	p.G1217G	COL4A5_ENST00000361603.2_Silent_p.G1217G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1217	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.G1217G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GAAATCCTGGCCTTCCAGGTC	0.512000									Alport syndrome with Diffuse Leiomyomatosis				9	38					0.00448238	0.00493539	0.004482	1	0
SPECC1	92521	broad.mit.edu	37	17	20108353	20108353	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:20108353T>G	ENST00000395530.2	+	2	956	c.748T>G	c.(748-750)Ttt>Gtt	p.F250V	SPECC1_ENST00000395525.3_Missense_Mutation_p.F250V|SPECC1_ENST00000395529.3_Missense_Mutation_p.F331V|SPECC1_ENST00000472876.1_Intron|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Missense_Mutation_p.F331V|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.F250V|SPECC1_ENST00000395527.4_Missense_Mutation_p.F331V	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	331						nucleus		p.F331V(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TGCTTCCGACTTTGAGCACAT	0.463000													7	188					0	0	0.001984	0	0
TMTC1	83857	broad.mit.edu	37	12	29911649	29911649	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:29911649A>G	ENST00000256062.5	-	3	691	c.218T>C	c.(217-219)cTc>cCc	p.L73P	TMTC1_ENST00000552618.1_Missense_Mutation_p.L181P|TMTC1_ENST00000539277.1_Missense_Mutation_p.L181P|TMTC1_ENST00000381224.2_Missense_Mutation_p.L73P|TMTC1_ENST00000551659.1_Missense_Mutation_p.L181P	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	181						integral to membrane	binding	p.L73P(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTTGTACGAGAGAAAGGCCAA	0.468000													4	33					0	0	0.009096	0	0
MED1	5469	broad.mit.edu	37	17	37566333	37566333	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:37566333G>A	ENST00000300651.6	-	17	2364	c.2141C>T	c.(2140-2142)tCa>tTa	p.S714L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	714	Interaction with ESR1.|Interaction with GATA1 (By similarity).|Interaction with VDR.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.S714L(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AACATCCATTGAAAATAGCTC	0.468000										HNSCC(31;0.082)			51	106					0	0	0.003610	0	0
SACS	26278	broad.mit.edu	37	13	23915308	23915308	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:23915308G>A	ENST00000382298.3	-	10	3295	c.2707C>T	c.(2707-2709)Ctg>Ttg	p.L903L	SACS_ENST00000382292.3_Silent_p.L903L|SACS_ENST00000402364.1_Silent_p.L153L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	903					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.L756L(1)|p.L903L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTTCCTCAGGGCATCTTTG	0.378000													46	97					0	0	0.003610	0	0
XIAP	331	broad.mit.edu	37	X	123040876	123040876	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:123040876G>T	ENST00000371199.3	+	7	1638	c.1339G>T	c.(1339-1341)Gag>Tag	p.E447*	XIAP_ENST00000355640.3_Nonsense_Mutation_p.E447*|XIAP_ENST00000434753.3_Nonsense_Mutation_p.E447*|XIAP_ENST00000468691.1_3'UTR	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	447					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	p.E447*(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						CCTGCAAGAGGAGAAGCTTTG	0.358000									X-linked Lymphoproliferative syndrome				13	62					3.27435e-08	4.38092e-08	0.002450	1	0
IQCG	84223	broad.mit.edu	37	3	197619552	197619552	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:197619552G>C	ENST00000265239.6	-	10	1466	c.1042C>G	c.(1042-1044)Ctc>Gtc	p.L348V	IQCG_ENST00000455191.1_Missense_Mutation_p.L348V	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	348								p.L348V(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GTGGCTTTGAGAGCATTTAGT	0.428000													67	241					0	0	0.003610	0	0
LONRF3	79836	broad.mit.edu	37	X	118147002	118147002	+	Splice_Site	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:118147002G>T	ENST00000365713.2	+	8	1852	c.1688_splice	c.e8-1	p.G563_splice	LONRF3_ENST00000371628.3_Splice_Site_p.G604_splice|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Splice_Site_p.G348_splice|LONRF3_ENST00000304778.7_Splice_Site_p.G563_splice			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	604	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.G563G(1)|p.G604G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CAATAAACAGGTTTGCAGAAT	0.502000													35	196					7.04047e-22	1.23507e-21	0.005524	1	0
TECRL	253017	broad.mit.edu	37	4	65274936	65274936	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:65274936G>T	ENST00000381210.3	-	1	244	c.134C>A	c.(133-135)cCt>cAt	p.P45H	TECRL_ENST00000507440.1_Missense_Mutation_p.P45H	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	45					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.P45H(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TGGTCTTAGAGGGCCCGCTGA	0.388000													7	51					2.0095e-06	2.52538e-06	0.001984	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84528438	84528438	+	RNA	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:84528438A>T	ENST00000527857.1	+	0	87					NR_026851.1																						CTTAGCCCTGACTCACCTTGT	0.428000													5	27					0	0	0.000602	0	0
LRP2	4036	broad.mit.edu	37	2	170101325	170101325	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:170101325G>T	ENST00000263816.3	-	22	3593	c.3308C>A	c.(3307-3309)aCc>aAc	p.T1103N	LRP2_ENST00000443831.1_Missense_Mutation_p.T966N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1103	LDL-receptor class A 9.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.T1103N(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGTGCGTGGGTGGGGCAGTT	0.542000													25	125					7.92952e-12	1.1833e-11	0.003954	1	0
SPEF2	79925	broad.mit.edu	37	5	35697879	35697879	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:35697879A>G	ENST00000440995.2	+	15	2110	c.2110A>G	c.(2110-2112)Ata>Gta	p.I704V	SPEF2_ENST00000356031.3_Missense_Mutation_p.I709V|SPEF2_ENST00000509059.1_Missense_Mutation_p.I704V|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	709					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.I709V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTTGACATCATAGTAAATGC	0.333000													11	18					0	0	0.008291	0	0
PCM1	5108	broad.mit.edu	37	8	17827249	17827249	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:17827249G>A	ENST00000325083.8	+	22	4015	c.3576G>A	c.(3574-3576)gaG>gaA	p.E1192E	PCM1_ENST00000519253.1_Silent_p.E1192E|PCM1_ENST00000524226.1_Silent_p.E1193E	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	1192					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	p.E1192E(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TTGGAGCAGAGAAACCAAGGT	0.368000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								5	93					0	0	0.000602	0	0
SETD2	29072	broad.mit.edu	37	3	47162473	47162473	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:47162473T>G	ENST00000409792.3	-	3	3695	c.3653A>C	c.(3652-3654)cAa>cCa	p.Q1218P		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.Q715P(1)|p.Q1218P(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGTGGTCTGTTGCCAAGACTT	0.413000			"""N, F, S, Mis"""		clear cell renal carcinoma								26	156					0	0	0.003330	0	0
PHRF1	57661	broad.mit.edu	37	11	587399	587399	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:587399G>C	ENST00000264555.5	+	4	483	c.355G>C	c.(355-357)Gcc>Ccc	p.A119P	PHRF1_ENST00000416188.2_Missense_Mutation_p.A119P|PHRF1_ENST00000533464.1_Missense_Mutation_p.A115P|PHRF1_ENST00000413872.2_Missense_Mutation_p.A118P	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	119							RNA polymerase binding|zinc ion binding	p.A124P(1)|p.A119P(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAGAGACCAGGCCGTGGGGAC	0.557000													6	60					0	0	0.001168	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907748	164907748	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:164907748C>G	ENST00000475390.1	-	2	1314	c.871G>C	c.(871-873)Gct>Cct	p.A291P	SLITRK3_ENST00000241274.3_Missense_Mutation_p.A291P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	291						integral to membrane		p.A291P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCCAAACTAGCCTCTACCTCA	0.453000										HNSCC(40;0.11)			35	108					0	0	0.012213	0	0
BAI3	577	broad.mit.edu	37	6	70048873	70048873	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:70048873C>T	ENST00000370598.1	+	25	4075	c.3254C>T	c.(3253-3255)aCa>aTa	p.T1085I	BAI3_ENST00000546190.1_Missense_Mutation_p.T49I|BAI3_ENST00000238918.8_Missense_Mutation_p.T291I	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1085					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T1085I(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTTTCAACAACAGCTTTGTCA	0.423000													121	130					0	0	0.003610	0	0
TRPM6	140803	broad.mit.edu	37	9	77436694	77436694	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:77436694G>A	ENST00000451710.3	-	8	1138	c.901C>T	c.(901-903)Ctg>Ttg	p.L301L	TRPM6_ENST00000449912.2_Silent_p.L296L|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376864.4_Silent_p.L301L|TRPM6_ENST00000376871.3_Silent_p.L301L|TRPM6_ENST00000361255.3_Silent_p.L296L|TRPM6_ENST00000376872.3_Silent_p.L301L|TRPM6_ENST00000360774.1_Silent_p.L301L			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	301					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.L301L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACACTGACAGGATGACGTTG	0.582000													25	46					0	0	0.003954	0	0
ZFHX4	79776	broad.mit.edu	37	8	77620045	77620045	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:77620045C>A	ENST00000521891.2	+	3	3303	c.2855C>A	c.(2854-2856)aCt>aAt	p.T952N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.T926N|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T926N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T926N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	926						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T952N(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACTACAACACTCAGCTCAAA	0.473000										HNSCC(33;0.089)			6	48					5.9392e-07	7.61584e-07	0.001168	1	0
RAI2	10742	broad.mit.edu	37	X	17818874	17818874	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:17818874G>T	ENST00000545871.1	-	3	1717	c.1257C>A	c.(1255-1257)agC>agA	p.S419R	RAI2_ENST00000451717.1_Missense_Mutation_p.S419R|RAI2_ENST00000415486.3_Missense_Mutation_p.S369R|RAI2_ENST00000360011.1_Missense_Mutation_p.S419R|RAI2_ENST00000331511.1_Missense_Mutation_p.S419R	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	419					embryo development			p.S419R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TGACTTCGCCGCTGGGGTGGT	0.567000													13	128					9.31168e-06	1.13479e-05	0.001855	1	0
ADH7	131	broad.mit.edu	37	4	100349701	100349701	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:100349701C>T	ENST00000437033.2	-	3	710	c.207G>A	c.(205-207)gaG>gaA	p.E69E	ADH7_ENST00000209665.4_Silent_p.E81E|ADH7_ENST00000482593.1_Silent_p.E12E|ADH7_ENST00000476959.1_Silent_p.E89E			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	81					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.E81E(1)|p.E89E(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TCCCAGTTGCCTCATGTCCCA	0.428000													6	126					0	0	0.001984	0	0
KLHL13	90293	broad.mit.edu	37	X	117033335	117033335	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:117033335G>T	ENST00000371876.1	-	6	3772	c.1351C>A	c.(1351-1353)Caa>Aaa	p.Q451K	KLHL13_ENST00000545703.1_Missense_Mutation_p.Q460K|KLHL13_ENST00000469946.1_Missense_Mutation_p.Q451K|KLHL13_ENST00000539496.1_Missense_Mutation_p.Q505K|KLHL13_ENST00000541812.1_Missense_Mutation_p.Q486K|KLHL13_ENST00000262820.3_Missense_Mutation_p.Q502K|KLHL13_ENST00000371878.1_Missense_Mutation_p.Q451K|KLHL13_ENST00000371882.1_Missense_Mutation_p.Q451K|KLHL13_ENST00000540167.1_Missense_Mutation_p.Q486K			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	502					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.Q502K(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGCTCCTTTTGGAAAGTATCA	0.388000													38	264					1.58521e-26	2.85337e-26	0.005524	1	0
PAPPA	5069	broad.mit.edu	37	9	119114996	119114996	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:119114996C>A	ENST00000328252.3	+	16	4345	c.3976C>A	c.(3976-3978)Ctc>Atc	p.L1326I	PAPPA_ENST00000534838.1_Missense_Mutation_p.L364I	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1326	Sushi 2.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.L1326I(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CAACAACAGCCTCCTGACCTG	0.552000													13	72					0.00136819	0.00152854	0.001368	1	0
CLCN6	1185	broad.mit.edu	37	1	11889329	11889329	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:11889329C>T	ENST00000346436.6	+	13	1250	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000312413.6_Missense_Mutation_p.P344L|CLCN6_ENST00000376487.3_Nonsense_Mutation_p.R378*|CLCN6_ENST00000376496.3_Nonsense_Mutation_p.R400*	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	400					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	p.R400*(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGAATGCCGACAGATGTC	0.512000													88	75					0	0	0.003610	0	0
KRTAP6-3	337968	broad.mit.edu	37	21	31964926	31964926	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr21:31964926G>T	ENST00000391624.1	+	1	168	c.141G>T	c.(139-141)ctG>ctT	p.L47L		NM_181605.3	NP_853636.3			keratin associated protein 6-3									p.L47L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						atggaggcctggactgtggct	0.617000													30	13					9.78306e-22	1.70997e-21	0.009535	1	0
TOX2	84969	broad.mit.edu	37	20	42695416	42695416	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:42695416C>A	ENST00000358131.5	+	7	1557	c.1349C>A	c.(1348-1350)tCa>tAa	p.S450*	TOX2_ENST00000435864.2_Nonsense_Mutation_p.S346*|TOX2_ENST00000341197.3_Nonsense_Mutation_p.S468*|TOX2_ENST00000423191.1_Nonsense_Mutation_p.S426*|TOX2_ENST00000372999.1_Nonsense_Mutation_p.S426*	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	450	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S426*(1)|p.S477*(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGATCCTGCTCACCTGGCCCA	0.637000													39	88					2.52637e-11	3.71269e-11	0.005524	1	0
ARHGAP44	9912	broad.mit.edu	37	17	12883544	12883544	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:12883544C>T	ENST00000379672.5	+	19	2233	c.1933C>T	c.(1933-1935)Cgg>Tgg	p.R645W	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.R639W|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.R645W	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	645					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R645W(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TCACACCCTCCGGAAAGGTAT	0.617000													4	23					0	0	0.000602	0	0
HTT	3064	broad.mit.edu	37	4	3174698	3174698	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:3174698A>T	ENST00000355072.5	+	31	4151	c.4006A>T	c.(4006-4008)Agc>Tgc	p.S1336C		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1336					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.S1336C(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTCCAACCCCAGCAAGTCACA	0.532000													47	34					0	0	0.013114	0	0
SPECC1L	23384	broad.mit.edu	37	22	24724886	24724886	+	Splice_Site	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr22:24724886G>T	ENST00000314328.9	+	7	2504	c.2220_splice	c.e7+1	p.R740_splice	SPECC1L_ENST00000437398.1_Splice_Site_p.R740_splice|KB-1896H10.1_ENST00000358654.2_Splice_Site_p.R740_splice|SPECC1L_ENST00000541492.1_Splice_Site_p.R740_splice	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	740					cell cycle|cell division			p.R740L(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGAAGACTTCGGGTAGGATAA	0.348000													14	13					1.5842e-08	2.14533e-08	0.001855	1	0
C3orf38	285237	broad.mit.edu	37	3	88205744	88205744	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:88205744G>T	ENST00000318887.3	+	3	1259	c.949G>T	c.(949-951)Gta>Tta	p.V317L	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	317					apoptosis			p.V315L(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		ACGACATAATGTAAAGCAGGC	0.398000													40	92					7.88023e-25	1.41143e-24	0.003610	1	0
CDH6	1004	broad.mit.edu	37	5	31294153	31294153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:31294153G>T	ENST00000265071.2	+	3	578	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	CDH6_ENST00000514738.1_Nonsense_Mutation_p.E50*	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	105	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.E105*(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CATTATTAATGAAAACACAGG	0.428000													11	99					1.58986e-06	2.00323e-06	0.008291	1	0
HAVCR1	26762	broad.mit.edu	37	5	156482498	156482498	+	Silent	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:156482498A>T	ENST00000339252.3	-	2	625	c.93T>A	c.(91-93)tcT>tcA	p.S31S	HAVCR1_ENST00000523175.1_Silent_p.S31S|HAVCR1_ENST00000544197.1_Silent_p.S31S|HAVCR1_ENST00000522693.1_Silent_p.S31S|HAVCR1_ENST00000425854.1_Silent_p.S31S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	31	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity	p.S31S(2)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTAGTGTGACAGATGGACCTG	0.468000													11	9					0	0	0.001855	0	0
THEG	51298	broad.mit.edu	37	19	362382	362382	+	Missense_Mutation	SNP	G	G	A	rs146622836		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:362382G>A	ENST00000342640.4	-	8	1000	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	THEG_ENST00000346878.2_Missense_Mutation_p.R296C	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	320					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.R320C(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)		ACCTCCCAGCGAGGATCTCGG	0.592000													18	69					0	0	0.007413	0	0
TLR4	7099	broad.mit.edu	37	9	120476556	120476556	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:120476556C>A	ENST00000355622.6	+	3	2251	c.2150C>A	c.(2149-2151)gCc>gAc	p.A717D	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.A677D	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	717	TIR.				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.A717D(1)		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						CCCGGTGTGGCCATTGCTGCC	0.473000													38	95					4.62619e-21	8.03759e-21	0.004289	1	0
ZFYVE1	53349	broad.mit.edu	37	14	73459868	73459868	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:73459868T>A	ENST00000556143.1	-	4	1906	c.1186A>T	c.(1186-1188)Atc>Ttc	p.I396F	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.I396F|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.I396F	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	396						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	p.I396F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GCTTTGAAGATGACTCCCGGG	0.572000													7	41					0	0	0.001984	0	0
MCM6	4175	broad.mit.edu	37	2	136626369	136626369	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:136626369G>A	ENST00000264156.2	-	4	487	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	143					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	p.R143W(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GGGTGAGTCCGCACCACCTGC	0.473000													18	68					0	0	0.006122	0	0
FN1	2335	broad.mit.edu	37	2	216284006	216284006	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:216284006C>A	ENST00000354785.4	-	12	2147	c.1778G>T	c.(1777-1779)gGc>gTc	p.G593V	FN1_ENST00000432072.2_Missense_Mutation_p.G593V|FN1_ENST00000357867.4_Missense_Mutation_p.G593V|FN1_ENST00000443816.1_Missense_Mutation_p.G593V|FN1_ENST00000446046.1_Missense_Mutation_p.G593V|FN1_ENST00000359671.1_Missense_Mutation_p.G593V|FN1_ENST00000357009.2_Missense_Mutation_p.G593V|FN1_ENST00000356005.4_Missense_Mutation_p.G593V|FN1_ENST00000346544.3_Missense_Mutation_p.G593V|FN1_ENST00000323926.6_Missense_Mutation_p.G593V|FN1_ENST00000421182.1_Missense_Mutation_p.G593V|FN1_ENST00000426059.1_Missense_Mutation_p.G593V|FN1_ENST00000345488.5_Missense_Mutation_p.G593V|FN1_ENST00000336916.4_Missense_Mutation_p.G593V			P02751	FINC_HUMAN	fibronectin 1	593	Collagen-binding.|Fibronectin type-I 9.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.G593F(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCCCAATGCCACGGCCATA	0.463000													15	53					5.3912e-06	6.64273e-06	0.006122	1	0
USP51	158880	broad.mit.edu	37	X	55513992	55513992	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:55513992G>T	ENST00000500968.3	-	2	1463	c.1381C>A	c.(1381-1383)Cta>Ata	p.L461I	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	461					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.L461I(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TGTCTATGTAGCACGTCTAAT	0.458000													17	184					0.00074312	0.000837962	0.006122	1	0
SLC2A10	81031	broad.mit.edu	37	20	45358063	45358063	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:45358063T>A	ENST00000359271.2	+	4	1733	c.1483T>A	c.(1483-1485)Tta>Ata	p.L495I		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	495						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	p.L495I(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CTTCATCTATTTATTTGTTCC	0.567000													17	52					0	0	0.006122	0	0
CD22	933	broad.mit.edu	37	19	35832311	35832311	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:35832311G>T	ENST00000085219.5	+	8	1639	c.1573G>T	c.(1573-1575)Gtc>Ttc	p.V525F	CD22_ENST00000536635.2_Missense_Mutation_p.V437F|CD22_ENST00000341773.6_Missense_Mutation_p.V348F|CD22_ENST00000544992.2_Missense_Mutation_p.V525F|CD22_ENST00000594250.1_Missense_Mutation_p.V348F|CD22_ENST00000270311.6_Missense_Mutation_p.V405F|CD22_ENST00000419549.2_Missense_Mutation_p.V353F	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	525	Ig-like C2-type 5.				cell adhesion		protein binding|sugar binding	p.V525F(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TGGAAACTCGGTCAGCCTCCA	0.547000													33	33					3.67414e-24	6.55644e-24	0.012213	1	0
KIF1A	547	broad.mit.edu	37	2	241656803	241656803	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:241656803C>A	ENST00000498729.2	-	49	5600	c.5354G>T	c.(5353-5355)aGg>aTg	p.R1785M	KIF1A_ENST00000320389.7_Missense_Mutation_p.R1684M	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1684					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.R1684M(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTGGGCAGACCTCCTTCTGGA	0.662000													24	40					5.61819e-17	9.13665e-17	0.005443	1	0
RND3	390	broad.mit.edu	37	2	151326543	151326543	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:151326543C>A	ENST00000375734.2	-	5	942	c.693G>T	c.(691-693)acG>acT	p.T231T	RND3_ENST00000409557.1_Silent_p.T102T|RND3_ENST00000263895.4_Silent_p.T231T	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	231					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity	p.D232Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		TTCGTAAGTCCGTAGCAACTG	0.398000													19	51					2.35188e-11	3.46681e-11	0.006122	1	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510143	77510143	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:77510143C>A	ENST00000477717.1	+	3	751	c.516C>A	c.(514-516)ggC>ggA	p.G172G		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	172					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.G172G(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TCTTCTGGGGCCCCAGCAGCT	0.622000													18	88					3.41278e-10	4.86725e-10	0.004990	1	0
PCDHGB1	56104	broad.mit.edu	37	5	140730620	140730620	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:140730620G>C	ENST00000523390.1	+	1	793	c.793G>C	c.(793-795)Gac>Cac	p.D265H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1												p.D265H(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGCCACAGACCAGGATGA	0.507000													48	46					0	0	0.003610	0	0
PML	5371	broad.mit.edu	37	15	74315475	74315475	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:74315475G>T	ENST00000565898.1	+	3	993	c.909G>T	c.(907-909)gcG>gcT	p.A303A	PML_ENST00000268059.6_Silent_p.A303A|PML_ENST00000395132.2_Silent_p.A303A|PML_ENST00000268058.3_Silent_p.A303A|PML_ENST00000564428.1_Silent_p.A303A|PML_ENST00000359928.4_Silent_p.A303A|PML_ENST00000563500.1_Silent_p.A303A|PML_ENST00000569965.1_Silent_p.A303A|PML_ENST00000569477.1_Silent_p.A303A|PML_ENST00000569161.1_3'UTR|PML_ENST00000567543.1_Silent_p.A303A|PML_ENST00000436891.3_Silent_p.A303A|PML_ENST00000435786.2_Silent_p.A303A|PML_ENST00000395135.3_Silent_p.A303A|PML_ENST00000354026.6_Silent_p.A303A			P29590	PML_HUMAN	promyelocytic leukemia	303					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.A303A(3)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CTGTGGACGCGCGGTACCAGC	0.711000			T	"""RARA, PAX5"""	"""APL, ALL"""								10	16					9.70103e-10	1.37006e-09	0.008291	1	0
NDUFS2	4720	broad.mit.edu	37	1	161183230	161183230	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:161183230C>T	ENST00000392179.4	+	11	1416	c.1177C>T	c.(1177-1179)Cca>Tca	p.P393S	NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000367993.3_Missense_Mutation_p.P393S	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	393					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	p.P393S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	CCAAGTTCCTCCAGGAGCCAC	0.438000													7	27					0	0	0.004482	0	0
NOS2	4843	broad.mit.edu	37	17	26094750	26094750	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:26094750C>G	ENST00000313735.6	-	18	2381	c.2148G>C	c.(2146-2148)caG>caC	p.Q716H		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	716					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.Q716H(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GGTCCAAAGGCTGTGAGTCCT	0.567000													5	28					0	0	0.000602	0	0
KIF16B	55614	broad.mit.edu	37	20	16359504	16359504	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:16359504C>A	ENST00000354981.2	-	19	3300	c.3143G>T	c.(3142-3144)gGg>gTg	p.G1048V	KIF16B_ENST00000355755.3_Missense_Mutation_p.G1048V|KIF16B_ENST00000408042.1_Missense_Mutation_p.G1048V|KIF16B_ENST00000378003.2_Missense_Mutation_p.G274V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1048	Glu-rich.				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	p.G1048V(2)		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						AGCCTGGAGCCCTGACTGCTC	0.577000													13	144					0.00185496	0.00206916	0.001855	1	0
SDPR	8436	broad.mit.edu	37	2	192701131	192701131	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:192701131C>T	ENST00000304141.4	-	2	1125	c.796G>A	c.(796-798)Gag>Aag	p.E266K		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	266						caveola|cytosol	phosphatidylserine binding|protein binding	p.E266K(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TCTCTCCTCTCTACAGATACG	0.448000													28	363					0	0	0.006320	0	0
ZNF536	9745	broad.mit.edu	37	19	31039467	31039467	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:31039467C>A	ENST00000355537.3	+	4	3088	c.2941C>A	c.(2941-2943)Cgg>Agg	p.R981R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	981					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R981R(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTTGTCTGTGCGGCCAGATGC	0.572000													18	93					2.4624e-09	3.43408e-09	0.008871	1	0
ARHGAP22	58504	broad.mit.edu	37	10	49654495	49654495	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:49654495T>C	ENST00000249601.4	-	10	2332	c.2036A>G	c.(2035-2037)gAg>gGg	p.E679G	ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E695G|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.E570G|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.E589G|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E685G|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.E520G|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.E512G	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	679					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	p.E679G(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGAAAAAAACTCCTCCATTTC	0.517000													7	140					0	0	0.003080	0	0
IGFN1	91156	broad.mit.edu	37	1	201196129	201196129	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:201196129G>T	ENST00000335211.4	+	23	11036	c.10906G>T	c.(10906-10908)Gcc>Tcc	p.A3636S	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1									p.A796S(1)|p.A3636S(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CATGAGCTGTGCCGTGCAGGG	0.687000													12	65					2.27111e-07	2.94351e-07	0.001368	1	0
ALPK2	115701	broad.mit.edu	37	18	56274666	56274666	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr18:56274666G>T	ENST00000361673.3	-	3	328	c.115C>A	c.(115-117)Ccc>Acc	p.P39T		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	39	Ig-like 1.						ATP binding|protein serine/threonine kinase activity	p.P39T(1)		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						TCTGGCTTGGGCTGACCTGAC	0.348000													18	22					9.16793e-09	1.24735e-08	0.004990	1	0
F2RL2	2151	broad.mit.edu	37	5	75914019	75914019	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:75914019G>A	ENST00000296641.4	-	2	716	c.513C>T	c.(511-513)gtC>gtT	p.V171V	IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron|F2RL2_ENST00000504899.1_Silent_p.V149V	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	171					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity	p.V171V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		CATAGAAGATGACTGTGGTGG	0.498000													6	49					0	0	0.001168	0	0
SLC15A2	6565	broad.mit.edu	37	3	121658294	121658294	+	Silent	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:121658294T>C	ENST00000489711.1	+	20	2248	c.1860T>C	c.(1858-1860)gcT>gcC	p.A620A	SLC15A2_ENST00000295605.2_Silent_p.A589A	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	620					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	p.A620A(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGGTTACAGCTGGGGAGGTCA	0.443000													4	113					0	0	0.009096	0	0
TRPM2	7226	broad.mit.edu	37	21	45837909	45837909	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr21:45837909C>A	ENST00000397928.1	+	21	3691	c.3246C>A	c.(3244-3246)ccC>ccA	p.P1082P	TRPM2_ENST00000300481.9_Silent_p.P1062P|TRPM2_ENST00000397932.2_Silent_p.P1082P|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.P1082P	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1082						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.P1082P(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ccgcgccgccccccTTCATCC	0.632000													15	48					1.05317e-09	1.4816e-09	0.002450	1	0
PSME4	23198	broad.mit.edu	37	2	54125136	54125136	+	Splice_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:54125136C>A	ENST00000404125.1	-	31	3532	c.3476_splice	c.e31-1	p.L1159_splice	PSME4_ENST00000421748.2_Splice_Site_p.L303_splice	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1159					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.L1045L(1)|p.L1159L(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATTTCCAGGGCCTTAAAAGGA	0.363000													49	79					3.76525e-18	6.24238e-18	0.003610	1	0
SERPINA6	866	broad.mit.edu	37	14	94772431	94772431	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:94772431C>G	ENST00000341584.3	-	4	1155	c.1009G>C	c.(1009-1011)Gac>Cac	p.D337H		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	337					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	p.D337H(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AGCTGGGCGTCCTGGGTGATG	0.473000													25	66					0	0	0.006320	0	0
RYR2	6262	broad.mit.edu	37	1	237947745	237947745	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:237947745C>A	ENST00000366574.2	+	90	13050	c.12733C>A	c.(12733-12735)Ctg>Atg	p.L4245M	RYR2_ENST00000360064.6_Missense_Mutation_p.L4251M|RYR2_ENST00000542537.1_Missense_Mutation_p.L4229M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4245					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.L4243M(1)		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)			CAGGTCGGCCCTGTTTGCGCT	0.502000													5	36					0.000602214	0.000681726	0.000602	1	0
NOTCH1	4851	broad.mit.edu	37	9	139411824	139411824	+	Silent	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:139411824C>T	ENST00000277541.6	-	9	1530	c.1455G>A	c.(1453-1455)gtG>gtA	p.V485V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	485	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.V485V(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCTCGCAGTGCACACCCTCGT	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	14					0	0	0.009096	0	0
XIRP2	129446	broad.mit.edu	37	2	168101659	168101659	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:168101659G>T	ENST00000409195.1	+	9	3846	c.3757G>T	c.(3757-3759)Gaa>Taa	p.E1253*	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.E1031*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.E1253*|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1078					actin cytoskeleton organization	cell junction	actin binding	p.E1253*(1)		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						TAAGATAAAAGAAAGCCAAGA	0.333000													17	56					0.00400662	0.00442163	0.004007	1	0
HTR1D	3352	broad.mit.edu	37	1	23520676	23520676	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:23520676G>A	ENST00000374619.1	-	1	546	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	HTR1D_ENST00000314113.3_Nonsense_Mutation_p.Q13*	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	13					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	p.Q13*(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GAGGCCTCCTGGGGAAGGCCT	0.577000													8	70					0	0	0.004482	0	0
OR4C6	219432	broad.mit.edu	37	11	55433215	55433215	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:55433215C>A	ENST00000314259.3	+	1	602	c.573C>A	c.(571-573)caC>caA	p.H191Q		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H191Q(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CGGACACCCACATCCTGGGCC	0.438000													15	91					2.32078e-09	3.24283e-09	0.003163	1	0
OR2G6	391211	broad.mit.edu	37	1	248685897	248685897	+	Nonstop_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:248685897A>G	ENST00000343414.4	+	1	982	c.950A>G	c.(949-951)tAg>tGg	p.*317W		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.*317W(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|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;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACAAGGACTAGGAAACACCT	0.483000													9	28					0	0	0.004482	0	0
SYK	6850	broad.mit.edu	37	9	93657852	93657852	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:93657852G>A	ENST00000375754.4	+	14	2026	c.1878G>A	c.(1876-1878)ctG>ctA	p.L626L	SYK_ENST00000375747.1_Silent_p.L603L|SYK_ENST00000375751.4_Silent_p.L603L|SYK_ENST00000375746.1_Silent_p.L626L	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	626	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	p.L603L(1)|p.L626L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AACTGCGGCTGCGCAATTACT	0.488000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""						OREG0019297	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	93					0	0	0.003163	0	0
NPAS3	64067	broad.mit.edu	37	14	34269137	34269137	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:34269137G>A	ENST00000346562.2	+	11	1602	c.1528G>A	c.(1528-1530)Gcg>Acg	p.A510T	NPAS3_ENST00000357798.5_Missense_Mutation_p.A529T|NPAS3_ENST00000356141.4_Missense_Mutation_p.A542T|NPAS3_ENST00000548645.1_Missense_Mutation_p.A512T|NPAS3_ENST00000551492.1_Missense_Mutation_p.A547T	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.A529T(1)|p.A542T(1)|p.A510T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GAACCCCAAGGCGGGCGAGGA	0.632000													8	36					0	0	0.003080	0	0
GPR107	57720	broad.mit.edu	37	9	132861768	132861768	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:132861768C>T	ENST00000372406.1	+	10	1403	c.896C>T	c.(895-897)gCg>gTg	p.A299V	GPR107_ENST00000372410.3_Missense_Mutation_p.A299V|GPR107_ENST00000347136.6_Missense_Mutation_p.A299V	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	299						integral to membrane		p.A299V(1)		endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TGGCTGATGGCGGCCCTTCCT	0.403000													5	119					0	0	0.001168	0	0
CASR	846	broad.mit.edu	37	3	121976017	121976017	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:121976017C>T	ENST00000498619.1	+	3	713	c.275C>T	c.(274-276)aCg>aTg	p.T92M	CASR_ENST00000296154.5_Missense_Mutation_p.T92M|CASR_ENST00000490131.1_Missense_Mutation_p.T92M	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	92					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.T92M(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCCAACTTGACGCTGGGATAC	0.443000													24	111					0	0	0.003954	0	0
ABCA7	10347	broad.mit.edu	37	19	1057026	1057026	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:1057026G>A	ENST00000263094.6	+	34	4938	c.4707G>A	c.(4705-4707)caG>caA	p.Q1569Q	ABCA7_ENST00000435683.2_Silent_p.Q1431Q|ABCA7_ENST00000433129.1_Silent_p.Q1569Q	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1569					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.Q1569Q(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		AGCACCTGCAGCTCATGGGGG	0.622000													4	30					0	0	0.000602	0	0
PEG10	23089	broad.mit.edu	37	7	94293376	94293376	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:94293376A>T	ENST00000482108.1	+	2	987	c.508A>T	c.(508-510)Aag>Tag	p.K170*	PEG10_ENST00000488574.1_Nonsense_Mutation_p.K170*	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	170	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.K170*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCCAAACGCAAGATCAGACG	0.542000													19	153					0	0	0.012319	0	0
UNC13C	440279	broad.mit.edu	37	15	54305853	54305853	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:54305853G>T	ENST00000545554.1	+	1	753	c.753G>T	c.(751-753)caG>caT	p.Q251H	UNC13C_ENST00000537900.1_Missense_Mutation_p.Q251H|UNC13C_ENST00000260323.11_Missense_Mutation_p.Q251H			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	251					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.Q251H(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGGAACTTCAGGGAATAAGTC	0.468000													24	74					3.83957e-06	4.7879e-06	0.002780	1	0
NEIL3	55247	broad.mit.edu	37	4	178272695	178272695	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:178272695G>T	ENST00000264596.3	+	7	1149	c.1031G>T	c.(1030-1032)aGg>aTg	p.R344M	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	344					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	p.R344M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TTGACCTCAAGGCCTATTGGT	0.413000								Base excision repair (BER), DNA glycosylases					33	76					4.3181e-19	7.30096e-19	0.002836	1	0
CSF1R	1436	broad.mit.edu	37	5	149434825	149434825	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:149434825G>T	ENST00000286301.3	-	20	2920	c.2629C>A	c.(2629-2631)Cag>Aag	p.Q877K		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	877	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.Q877K(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AATGCAGGCTGGGCCATTTGG	0.537000													51	39					2.74695e-27	4.96921e-27	0.003610	1	0
CDC20	991	broad.mit.edu	37	1	43828709	43828709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:43828709G>A	ENST00000372462.1	+	10	1612	c.1409G>A	c.(1408-1410)tGg>tAg	p.W470*	CDC20_ENST00000310955.6_Nonsense_Mutation_p.W470*			Q12834	CDC20_HUMAN	cell division cycle 20	470					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding	p.W470*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGAGGCTATGGCGCTGTTTT	0.617000													12	115					0	0	0.001855	0	0
OR4K13	390433	broad.mit.edu	37	14	20502482	20502482	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:20502482A>C	ENST00000315693.2	-	1	437	c.436T>G	c.(436-438)Tta>Gta	p.L146V		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L146V(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TAGGAGGATAACAGTAGCCCA	0.463000													10	172					0	0	0.008291	0	0
OR4A15	81328	broad.mit.edu	37	11	55135949	55135949	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:55135949G>T	ENST00000314706.3	+	1	590	c.590G>T	c.(589-591)tGt>tTt	p.C197F		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C197F(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTCCCTTTCTGTGGACCCAAT	0.418000													29	134					3.73988e-18	6.20743e-18	0.006320	1	0
NAP1L2	4674	broad.mit.edu	37	X	72433698	72433698	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:72433698C>A	ENST00000373517.3	-	1	986	c.631G>T	c.(631-633)Gct>Tct	p.A211S	NAP1L2_ENST00000536638.1_Missense_Mutation_p.A69S	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	211	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex		p.A211S(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					tcttccACAGCATAATCATAA	0.433000													7	44					2.7689e-08	3.72528e-08	0.001984	1	0
HDLBP	3069	broad.mit.edu	37	2	242169568	242169568	+	Splice_Site	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:242169568G>T	ENST00000391975.1	-	26	3818	c.3591_splice	c.e26+1	p.Y1197_splice	HDLBP_ENST00000427183.2_Splice_Site_p.Y1164_splice|HDLBP_ENST00000310931.4_Splice_Site_p.Y1197_splice|HDLBP_ENST00000391976.2_Splice_Site_p.Y1197_splice	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1197	KH 14.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	p.Y1197*(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AGAGACTCACGTATTCCTCCT	0.627000													4	66					0.00024832	0.000285568	0.009096	1	0
ATL2	64225	broad.mit.edu	37	2	38570580	38570580	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:38570580G>A	ENST00000378954.4	-	2	194	c.193C>T	c.(193-195)Ctt>Ttt	p.L65F	ATL2_ENST00000546051.1_Intron|ATL2_ENST00000419554.2_Missense_Mutation_p.L65F|ATL2_ENST00000406122.1_Intron|ATL2_ENST00000486927.1_5'UTR|ATL2_ENST00000452935.2_Missense_Mutation_p.L47F|ATL2_ENST00000539122.1_Intron|ATL2_ENST00000402054.1_Intron|ATL2_ENST00000332337.4_Missense_Mutation_p.L47F	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	65					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	p.L65F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TCATGAGCAAGAACAATCTGT	0.363000													14	110					0	0	0.002450	0	0
DNAH9	1770	broad.mit.edu	37	17	11865225	11865225	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:11865225T>A	ENST00000262442.3	+	68	12953	c.12885T>A	c.(12883-12885)aaT>aaA	p.N4295K	DNAH9_ENST00000396001.2_Missense_Mutation_p.N607K|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.N4219K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4295					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.N4295K(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACTTACAGAATGCCCTGTACT	0.542000													16	176					0	0	0.004007	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053825	95053825	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:95053825C>A	ENST00000329597.7	+	3	336	c.126C>A	c.(124-126)ccC>ccA	p.P42P	SERPINA5_ENST00000554276.1_Silent_p.P42P|SERPINA5_ENST00000553780.1_Silent_p.P42P|SERPINA5_ENST00000554866.1_Silent_p.P42P	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	42					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.P42P(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CGGTGGCCCCCAGCAGCAGAA	0.622000													16	33					3.45872e-05	4.12824e-05	0.004007	1	0
OR4N5	390437	broad.mit.edu	37	14	20612634	20612634	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:20612634T>C	ENST00000333629.1	+	1	740	c.740T>C	c.(739-741)aTa>aCa	p.I247T		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I247T(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ATTATCATTATATTTCTCATG	0.448000													37	246					0	0	0.004878	0	0
OMA1	115209	broad.mit.edu	37	1	58971854	58971854	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:58971854C>A	ENST00000371226.3	-	8	1356	c.1243G>T	c.(1243-1245)Gtg>Ttg	p.V415L	DAB1_ENST00000485760.1_5'UTR|OMA1_ENST00000358603.2_Missense_Mutation_p.V415L	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	415					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	p.V415L(1)		NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TGCCAAAACACTGAACTGGCT	0.398000													9	31					2.17888e-05	2.6071e-05	0.006214	1	0
DPYSL4	10570	broad.mit.edu	37	10	134015467	134015467	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:134015467C>A	ENST00000338492.4	+	11	1292	c.1128C>A	c.(1126-1128)gaC>gaA	p.D376E	DPYSL4_ENST00000368629.1_Missense_Mutation_p.D276E|DPYSL4_ENST00000368627.1_Missense_Mutation_p.D276E	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	376					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.D376E(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGAAGATGGACGAGAATGAGT	0.592000													41	33					6.48837e-15	1.02863e-14	0.010771	1	0
CKAP2L	150468	broad.mit.edu	37	2	113504007	113504007	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:113504007T>C	ENST00000541405.1	-	6	1776	c.1253A>G	c.(1252-1254)aAt>aGt	p.N418S	CKAP2L_ENST00000302450.6_Missense_Mutation_p.N583S			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	583						centrosome		p.N583S(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGTTGCCCCATTTTTAATGGC	0.373000													6	174					0	0	0.001984	0	0
SMARCC1	6599	broad.mit.edu	37	3	47702927	47702927	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:47702927C>A	ENST00000254480.5	-	21	2296	c.2177G>T	c.(2176-2178)cGg>cTg	p.R726L	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	726					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	p.R726L(1)		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)		TACCTCCTCCCGGACCCGAGA	0.473000													11	114					6.40141e-05	7.54117e-05	0.010729	1	0
MMP2	4313	broad.mit.edu	37	16	55539339	55539339	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:55539339C>A	ENST00000219070.4	+	13	2477	c.1968C>A	c.(1966-1968)gaC>gaA	p.D656E	MMP2_ENST00000437642.2_Missense_Mutation_p.D606E|MMP2_ENST00000543485.1_Missense_Mutation_p.D580E|MMP2_ENST00000570308.1_Missense_Mutation_p.D580E	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	656	Hemopexin-like 4.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.D656E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TCAAATCCGACTGGCTAGGCT	0.567000													13	93					0.00010058	0.000117155	0.001368	1	0
CSMD3	114788	broad.mit.edu	37	8	113662513	113662513	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:113662513G>T	ENST00000297405.5	-	19	3314	c.3070C>A	c.(3070-3072)Cat>Aat	p.H1024N	CSMD3_ENST00000343508.3_Missense_Mutation_p.H984N|CSMD3_ENST00000352409.3_Missense_Mutation_p.H1024N|CSMD3_ENST00000455883.2_Missense_Mutation_p.H920N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1024	Sushi 5.					integral to membrane|plasma membrane		p.H984N(1)|p.H1024N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAGAAATCATGACCATAGCGA	0.433000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	83					1.5842e-08	2.14533e-08	0.001855	1	0
PARD3B	117583	broad.mit.edu	37	2	206023603	206023603	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:206023603C>A	ENST00000406610.2	+	11	1799	c.1592C>A	c.(1591-1593)tCc>tAc	p.S531Y	PARD3B_ENST00000462231.1_Missense_Mutation_p.S531Y|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Missense_Mutation_p.S531Y|PARD3B_ENST00000351153.1_Missense_Mutation_p.S531Y	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	531	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction		p.S531Y(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTTATCAAATCCATCATTCAT	0.453000													5	67					0.000602214	0.000681726	0.000602	1	0
KIAA0586	9786	broad.mit.edu	37	14	58955345	58955345	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:58955345G>A	ENST00000423743.3	+	25	3660	c.3402G>A	c.(3400-3402)atG>atA	p.M1134I	KIAA0586_ENST00000354386.6_Missense_Mutation_p.M1231I|KIAA0586_ENST00000556134.1_Missense_Mutation_p.M1163I|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.M1102I	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	1102								p.M1102I(1)|p.M1231I(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTAGTGTAATGTCTGTGGCTA	0.438000													20	55					0	0	0.008871	0	0
SMR3A	26952	broad.mit.edu	37	4	71232510	71232510	+	Silent	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:71232510T>C	ENST00000226460.4	+	3	300	c.204T>C	c.(202-204)tcT>tcC	p.S68S		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	68	Pro-rich.					extracellular region		p.S68S(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CACCCCTTTCTCCACCCTATG	0.547000													20	154					0	0	0.010504	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761288	92761288	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:92761288C>T	ENST00000318238.4	-	5	5213	c.3997G>A	c.(3997-3999)Gaa>Aaa	p.E1333K	SAMD9L_ENST00000437805.1_Missense_Mutation_p.E1333K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.E1333K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1333								p.E1333K(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTCAGAGCTTCTAGCTTTTTC	0.378000													35	78					0	0	0.002836	0	0
AGXT	189	broad.mit.edu	37	2	241814543	241814543	+	Missense_Mutation	SNP	G	G	T	rs121908527		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:241814543G>T	ENST00000307503.3	+	7	1085	c.698G>T	c.(697-699)cGc>cTc	p.R233L		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	233			R -> C (in HP1).|R -> H (in HP1).|R -> L (in HP1).		glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	p.R233L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ATGTACTCCCGCAAGACGAAG	0.587000													17	39					5.3912e-06	6.64273e-06	0.006122	1	0
COL4A1	1282	broad.mit.edu	37	13	110822946	110822946	+	Silent	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:110822946G>C	ENST00000375820.4	-	42	3811	c.3690C>G	c.(3688-3690)gcC>gcG	p.A1230A		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1230	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.A873A(1)|p.A1230A(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCCCCTCCGTGGCATGGCCTG	0.672000													4	12					0	0	0.009096	0	0
CA4	762	broad.mit.edu	37	17	58236675	58236675	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:58236675G>T	ENST00000300900.4	+	8	928	c.829G>T	c.(829-831)Ggg>Tgg	p.G277W		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	277					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding	p.G277W(1)		kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	GCAGCAGCTGGGGCAGCGCAC	0.652000													6	12					3.59834e-05	4.26328e-05	0.001168	1	0
XIRP2	129446	broad.mit.edu	37	2	168101938	168101938	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:168101938G>T	ENST00000409195.1	+	9	4125	c.4036G>T	c.(4036-4038)Gat>Tat	p.D1346Y	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1124Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1346Y|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1171					actin cytoskeleton organization	cell junction	actin binding	p.D1346Y(1)		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						AATTCATGGAGATGTGCGAGG	0.383000													27	46					6.12954e-19	1.03276e-18	0.004656	1	0
CFI	3426	broad.mit.edu	37	4	110681705	110681705	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:110681705T>A	ENST00000394634.2	-	5	953	c.746A>T	c.(745-747)gAc>gTc	p.D249V	CFI_ENST00000394635.3_Missense_Mutation_p.D249V|CFI_ENST00000512148.1_Missense_Mutation_p.D249V	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	249	LDL-receptor class A 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	p.D249V(1)		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)		ATCACTTTGGTCTCCACAATC	0.358000													7	54					0	0	0.003080	0	0
OTOF	9381	broad.mit.edu	37	2	26687776	26687776	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:26687776G>T	ENST00000272371.2	-	39	5047	c.4921C>A	c.(4921-4923)Cgc>Agc	p.R1641S	OTOF_ENST00000402415.3_Missense_Mutation_p.R951S|OTOF_ENST00000339598.3_Missense_Mutation_p.R874S|OTOF_ENST00000338581.6_Missense_Mutation_p.R874S|OTOF_ENST00000403946.3_Missense_Mutation_p.R1641S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1641					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.R1641S(1)|p.R951S(1)|p.R874S(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAAGACGCGGTTGGCCACC	0.647000													10	51					9.70103e-10	1.37006e-09	0.008291	1	0
HLTF	6596	broad.mit.edu	37	3	148766766	148766766	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:148766766T>A	ENST00000310053.5	-	16	1833	c.1640A>T	c.(1639-1641)cAt>cTt	p.H547L	HLTF_ENST00000494055.1_Missense_Mutation_p.H547L|HLTF_ENST00000465259.1_Missense_Mutation_p.H546L|HLTF_ENST00000392912.2_Missense_Mutation_p.H547L	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	547	Helicase ATP-binding.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.H547L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CCTTATGCTATGTAATGGACT	0.333000													12	54					0	0	0.001368	0	0
ABCC11	85320	broad.mit.edu	37	16	48258303	48258303	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:48258303C>T	ENST00000394747.1	-	4	782	c.433G>A	c.(433-435)Ggg>Agg	p.G145R	ABCC11_ENST00000394748.1_Missense_Mutation_p.G145R|ABCC11_ENST00000356608.2_Missense_Mutation_p.G145R|ABCC11_ENST00000353782.5_Missense_Mutation_p.G145R|ABCC11_ENST00000537808.1_Missense_Mutation_p.G145R	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	145						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.G145R(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TTTTCAATCCCTCGCCTTGAG	0.463000													8	43					0	0	0.003080	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369000	86369000	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:86369000G>T	ENST00000400286.2	-	2	2242	c.1644C>A	c.(1642-1644)tcC>tcA	p.S548S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	548	LRRCT 2.					integral to membrane		p.S548*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GATGCCCGGGGGAAGTGCAGA	0.463000													31	46					3.69857e-22	6.50391e-22	0.008361	1	0
NID2	22795	broad.mit.edu	37	14	52526869	52526869	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:52526869G>T	ENST00000216286.5	-	3	739	c.740C>A	c.(739-741)aCt>aAt	p.T247N	NID2_ENST00000541773.1_Missense_Mutation_p.T194N	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	247	NIDO.					basement membrane	calcium ion binding|collagen binding	p.T247N(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AGACTGTTCAGTGCTAGTCAA	0.443000													11	50					4.68919e-08	6.25657e-08	0.008291	1	0
ALPK1	80216	broad.mit.edu	37	4	113360972	113360972	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:113360972A>G	ENST00000458497.1	+	14	3761	c.3482A>G	c.(3481-3483)tAt>tGt	p.Y1161C	ALPK1_ENST00000504176.2_Missense_Mutation_p.Y1083C|ALPK1_ENST00000177648.9_Missense_Mutation_p.Y1161C	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1161	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity	p.Y1161C(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GGCTTGGCCTATGGCCATTTT	0.328000													19	9					0	0	0.006122	0	0
ZWINT	11130	broad.mit.edu	37	10	58119778	58119778	+	Splice_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:58119778C>A	ENST00000373944.3	-	3	295		c.e3+1		ZWINT_ENST00000395405.1_Splice_Site|ZWINT_ENST00000361148.6_Splice_Site			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein						cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	p.?(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						TGCCTACTCACGGCTCGTGTC	0.562000													33	28					3.62531e-18	6.03801e-18	0.004289	1	0
CEL	1056	broad.mit.edu	37	9	135942025	135942025	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:135942025G>C	ENST00000372080.4	+	5	672	c.656G>C	c.(655-657)gGa>gCa	p.G219A	CEL_ENST00000351304.7_Missense_Mutation_p.G216A	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	216					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	p.G219A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GAGTCTGCTGGAGGTGCCAGC	0.637000													8	154					0	0	0.004482	0	0
BCOR	54880	broad.mit.edu	37	X	39934315	39934315	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:39934315C>A	ENST00000342274.4	-	4	646	c.284G>T	c.(283-285)gGa>gTa	p.G95V	BCOR_ENST00000378455.4_Missense_Mutation_p.G95V|BCOR_ENST00000378444.4_Missense_Mutation_p.G95V|BCOR_ENST00000397354.3_Missense_Mutation_p.G95V	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	95					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.G95V(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGAGCCCAGTCCACACAAGCT	0.557000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						12	54					1.61879e-10	2.33164e-10	0.001368	1	0
ACSM1	116285	broad.mit.edu	37	16	20702562	20702562	+	Translation_Start_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:20702562C>A	ENST00000219151.4	-	0	16				ACSM1_ENST00000307493.4_De_novo_Start_OutOfFrame|ACSM1_ENST00000520010.1_Splice_Site			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1						benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CACCACCTGCCTTGGGAAGAG	0.458000													23	36					7.41877e-09	1.01231e-08	0.012319	1	0
DCDC1	341019	broad.mit.edu	37	11	31312225	31312225	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:31312225T>C	ENST00000597505.1	-	5	928	c.929A>G	c.(928-930)gAg>gGg	p.E310G	DCDC1_ENST00000452803.1_Missense_Mutation_p.E310G			P59894	DCDC1_HUMAN	doublecortin domain containing 1	310					intracellular signal transduction			p.E310G(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CACTGTAATCTCATGCCCATC	0.338000													7	52					0	0	0.001984	0	0
SH2D4B	387694	broad.mit.edu	37	10	82331222	82331222	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:82331222G>T	ENST00000339284.2	+	3	813	c.383G>T	c.(382-384)cGg>cTg	p.R128L	SH2D4B_ENST00000313455.4_Missense_Mutation_p.R79L|SH2D4B_ENST00000470604.2_Missense_Mutation_p.R127L	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	127	Glu-rich.							p.R128L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			AAGAAGTTCCGGGATGCTCTG	0.517000													9	33					3.09899e-07	4.00574e-07	0.004482	1	0
PROS1	5627	broad.mit.edu	37	3	93605208	93605208	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:93605208C>A	ENST00000394236.3	-	11	1611	c.1295G>T	c.(1294-1296)cGg>cTg	p.R432L	PROS1_ENST00000407433.1_Missense_Mutation_p.R301L	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	432	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.R432L(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTCCACTTTCCGAGGGAATCC	0.378000													66	134					1.12612e-26	2.03206e-26	0.003610	1	0
DICER1	23405	broad.mit.edu	37	14	95571475	95571475	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:95571475C>T	ENST00000526495.1	-	22	3493	c.3202G>A	c.(3202-3204)Gag>Aag	p.E1068K	DICER1_ENST00000556045.1_5'UTR|DICER1_ENST00000527414.1_Missense_Mutation_p.E1068K|DICER1_ENST00000541352.1_Missense_Mutation_p.E1068K|DICER1_ENST00000343455.3_Missense_Mutation_p.E1068K|DICER1_ENST00000393063.1_Missense_Mutation_p.E1068K			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1068					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.E1068K(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTTAGCTCCTCTGCAGTCAAA	0.507000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				21	133					0	0	0.010504	0	0
FOXO4	4303	broad.mit.edu	37	X	70321310	70321310	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:70321310G>T	ENST00000374259.3	+	2	1562	c.1230G>T	c.(1228-1230)acG>acT	p.T410T	FOXO4_ENST00000341558.3_Silent_p.T355T	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	410					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.T410T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					AGCTGGCCACGGGCGTCGGCC	0.622000													5	33					0.000602214	0.000681726	0.000602	1	0
ARNT2	9915	broad.mit.edu	37	15	80750291	80750291	+	Silent	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:80750291T>C	ENST00000533983.1	+	4	474	c.135T>C	c.(133-135)gaT>gaC	p.D45D	ARNT2_ENST00000303329.4_Silent_p.D56D|ARNT2_ENST00000527771.1_Silent_p.D45D			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	56					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.D56D(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATGATGAAGATGGTGAAGGCC	0.368000													6	58					0	0	0.001984	0	0
C1orf173	127254	broad.mit.edu	37	1	75037552	75037552	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:75037552A>G	ENST00000326665.5	-	14	4060	c.3842T>C	c.(3841-3843)aTg>aCg	p.M1281T	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1281	Glu-rich.							p.M1281T(1)		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						CTTTTCTGCCATTATGGGATC	0.567000													50	158					0	0	0.003610	0	0
DNAH9	1770	broad.mit.edu	37	17	11513788	11513788	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:11513788G>A	ENST00000262442.3	+	3	758	c.690G>A	c.(688-690)gtG>gtA	p.V230V	DNAH9_ENST00000579828.1_Silent_p.V230V|DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Silent_p.V230V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	230	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.V230V(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGTCCAGGTGGTACTCAAGA	0.468000													10	62					0	0	0.010729	0	0
RYR3	6263	broad.mit.edu	37	15	34015011	34015011	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:34015011G>T	ENST00000389232.4	+	44	6785	c.6715G>T	c.(6715-6717)Ggg>Tgg	p.G2239W	RYR3_ENST00000415757.3_Missense_Mutation_p.G2239W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2239	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G2239W(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)		GGGGGGAAACGGGCTCTTGGC	0.572000													57	84					1.46156e-29	2.66725e-29	0.003610	1	0
PGLYRP2	114770	broad.mit.edu	37	19	15579522	15579522	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:15579522G>T	ENST00000340880.4	-	5	2163	c.1683C>A	c.(1681-1683)tcC>tcA	p.S561S	PGLYRP2_ENST00000292609.4_3'UTR	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	561					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.S561S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCTCCCTCCTGGATCTCTTAG	0.522000													27	112					1.80694e-10	2.59748e-10	0.009535	1	0
RND3	390	broad.mit.edu	37	2	151326542	151326542	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:151326542C>A	ENST00000375734.2	-	5	943	c.694G>T	c.(694-696)Gac>Tac	p.D232Y	RND3_ENST00000409557.1_Missense_Mutation_p.D103Y|RND3_ENST00000263895.4_Missense_Mutation_p.D232Y	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	232					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity	p.D232Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		TTTCGTAAGTCCGTAGCAACT	0.398000													18	53					1.02788e-11	1.52447e-11	0.004990	1	0
CNBD1	168975	broad.mit.edu	37	8	87917399	87917399	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:87917399A>C	ENST00000518476.1	+	3	300	c.249A>C	c.(247-249)aaA>aaC	p.K83N		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	83								p.K83N(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GACTTCCTAAACTTTTCAAAC	0.383000													3	15					0	0	0.004672	0	0
TTLL7	79739	broad.mit.edu	37	1	84399389	84399389	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:84399389A>G	ENST00000260505.8	-	9	1326	c.949T>C	c.(949-951)Tgt>Cgt	p.C317R	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	317	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	p.C317R(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CCAGGTCTACACATTCGATAG	0.418000													31	75					0	0	0.010818	0	0
KIAA1755	85449	broad.mit.edu	37	20	36851985	36851985	+	Silent	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:36851985A>T	ENST00000279024.4	-	9	2494	c.2223T>A	c.(2221-2223)gcT>gcA	p.A741A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	741								p.A741A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CCTCGATGGAAGCTTGTAGCA	0.612000													5	21					0	0	0.000602	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137136	126137136	+	Silent	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:126137136C>G	ENST00000299308.3	+	8	2057	c.2049C>G	c.(2047-2049)gtC>gtG	p.V683V	TMEM132B_ENST00000535886.1_Silent_p.V195V	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	683						integral to membrane		p.V683V(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)		GGGCCATCGTCTCCACAGCTG	0.602000													7	63					0	0	0.004482	0	0
OR10J5	127385	broad.mit.edu	37	1	159505255	159505255	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:159505255G>T	ENST00000334857.2	-	1	587	c.543C>A	c.(541-543)taC>taA	p.Y181*		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y181*(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TCATGACTGGGTAAATGTCAC	0.398000													9	33					1.12685e-05	1.36866e-05	0.004482	1	0
MOGAT1	116255	broad.mit.edu	37	2	223559869	223559869	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:223559869C>A	ENST00000446656.3	+	5	715	c.715C>A	c.(715-717)Cct>Act	p.P239T		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	239					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	p.P238T(2)|p.P239T(2)		breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		AACTGACAACCCTGAAGGATC	0.423000													14	21					4.3838e-07	5.63632e-07	0.001855	1	0
AHNAK2	113146	broad.mit.edu	37	14	105410706	105410706	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:105410706G>A	ENST00000333244.5	-	7	11201	c.11082C>T	c.(11080-11082)gaC>gaT	p.D3694D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3694						nucleus		p.D3694D(1)		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)			GGACCTTCAGGTCGGCAGAAG	0.632000													34	159					0	0	0.010818	0	0
DUSP15	128853	broad.mit.edu	37	20	30436654	30436654	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr20:30436654G>T	ENST00000278979.3	-	9	757	c.681C>A	c.(679-681)gaC>gaA	p.D227E				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	227						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D227E(1)		large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGGGCCCGGGTCCTCCTCAC	0.597000													5	14					1.76689e-08	2.38161e-08	0.006214	1	0
PTTG1	9232	broad.mit.edu	37	5	159854761	159854761	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:159854761C>G	ENST00000393964.1	+	4	813	c.410C>G	c.(409-411)gCg>gGg	p.A137G	PTTG1_ENST00000352433.5_Missense_Mutation_p.A137G|PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000520452.1_Missense_Mutation_p.A137G			O95997	PTTG1_HUMAN	pituitary tumor-transforming 1	137					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding	p.A137G(1)		breast(1)|large_intestine(1)|lung(4)	6	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)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		CACCAGATTGCGCACCTCCCC	0.527000													14	61					0	0	0.003163	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548589	20548589	+	Silent	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:20548589A>T	ENST00000329697.6	-	14	1893	c.1725T>A	c.(1723-1725)cgT>cgA	p.R575R	ACSM2B_ENST00000565322.1_Silent_p.R496R|ACSM2B_ENST00000565232.1_Silent_p.R575R|ACSM2B_ENST00000567001.1_Silent_p.R575R	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	575					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.R575R(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTCACTGCGCACGGGCTTTTC	0.463000													81	148					0	0	0.003610	0	0
ABCA6	23460	broad.mit.edu	37	17	67082843	67082843	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:67082843C>A	ENST00000284425.2	-	30	4027	c.3853G>T	c.(3853-3855)Gaa>Taa	p.E1285*	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1285					transport	integral to membrane	ATP binding|ATPase activity	p.E1285*(1)		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)					CCTGCATATTCTTTGTGTAGA	0.373000													5	76					0.000602214	0.000681726	0.000602	1	0
PDILT	204474	broad.mit.edu	37	16	20370825	20370825	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:20370825G>A	ENST00000302451.4	-	12	1819	c.1571C>T	c.(1570-1572)cCt>cTt	p.P524L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	524					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.P524L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CCTCATCATAGGCACCTCCTT	0.488000													43	109					0	0	0.006999	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269586	150269586	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:150269586A>G	ENST00000255945.2	+	3	603	c.428A>G	c.(427-429)gAg>gGg	p.E143G	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.E157G	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	143							GTP binding	p.E143G(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGTTTGGAGAGAGGGCTAGA	0.478000													10	79					0	0	0.008291	0	0
C6	729	broad.mit.edu	37	5	41201792	41201792	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:41201792G>T	ENST00000263413.3	-	3	432	c.168C>A	c.(166-168)taC>taA	p.Y56*	C6_ENST00000337836.5_Nonsense_Mutation_p.Y56*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	56	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Y56*(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)				AGTTTTCCTGGTAGTACTTAT	0.398000													21	62					1.55795e-14	2.45376e-14	0.012319	1	0
UNC45B	146862	broad.mit.edu	37	17	33482441	33482441	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:33482441G>T	ENST00000268876.5	+	7	863	c.766G>T	c.(766-768)Gac>Tac	p.D256Y	UNC45B_ENST00000433649.1_Missense_Mutation_p.D256Y|UNC45B_ENST00000394570.2_Missense_Mutation_p.D256Y|UNC45B_ENST00000591048.1_Missense_Mutation_p.D256Y|UNC45B_ENST00000378449.1_Missense_Mutation_p.D256Y	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	256					cell differentiation|muscle organ development	cytosol	binding	p.D256Y(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GTCTGGGGAGGACAAGCGGGA	0.522000													60	89					4.48484e-38	8.45062e-38	0.003610	1	0
CCHCR1	54535	broad.mit.edu	37	6	31116273	31116273	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:31116273G>T	ENST00000396268.3	-	10	1677	c.1489C>A	c.(1489-1491)Ctg>Atg	p.L497M	CCHCR1_ENST00000451521.2_Missense_Mutation_p.L461M|CCHCR1_ENST00000376266.5_Missense_Mutation_p.L408M|CCHCR1_ENST00000396263.2_Missense_Mutation_p.L408M	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	408					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	p.L408M(1)|p.L497M(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GCACGGCTCAGCTCCAACTGC	0.657000													19	50					9.7654e-05	0.000114206	0.007413	1	0
CHRM2	1129	broad.mit.edu	37	7	136700022	136700022	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:136700022C>G	ENST00000445907.2	+	3	938	c.410C>G	c.(409-411)aCa>aGa	p.T137R	CHRM2_ENST00000397608.3_Missense_Mutation_p.T137R|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.T137R|CHRM2_ENST00000453373.1_Missense_Mutation_p.T137R|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.T137R|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.T137R	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	137					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.T137R(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AAGCGGACCACAAAAATGGCA	0.488000													17	105					0	0	0.004007	0	0
LYPLAL1	127018	broad.mit.edu	37	1	219352503	219352503	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:219352503G>A	ENST00000366928.5	+	2	153	c.106G>A	c.(106-108)Gga>Aga	p.G36R	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Missense_Mutation_p.G36R	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	36						cytoplasm	lysophospholipase activity	p.G36R(1)		large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TTCTGGACAAGGATTAAGAAT	0.299000													5	21					0	0	0.001168	0	0
ANKH	56172	broad.mit.edu	37	5	14711380	14711380	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:14711380C>G	ENST00000284268.6	-	12	1735	c.1405G>C	c.(1405-1407)Gac>Cac	p.D469H	ANKH_ENST00000535119.1_Missense_Mutation_p.D271H	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	469					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.D469H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATGGCAGAGTCTTCCCCCTCC	0.542000													7	314					0	0	0.001984	0	0
PPP1R42	286187	broad.mit.edu	37	8	67925301	67925301	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:67925301T>C	ENST00000522909.1	-	4	511	c.327A>G	c.(325-327)atA>atG	p.I109M	PPP1R42_ENST00000517834.1_5'UTR|PPP1R42_ENST00000324682.5_Missense_Mutation_p.I109M			Q7Z4L9	LRC67_HUMAN	protein phosphatase 1, regulatory subunit 42	109								p.I109M(1)									CTAAACCTTCTATGACAGCAA	0.383000													8	75					0	0	0.004482	0	0
WDR72	256764	broad.mit.edu	37	15	54007479	54007479	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:54007479T>C	ENST00000396328.1	-	5	664	c.425A>G	c.(424-426)aAa>aGa	p.K142R	WDR72_ENST00000559418.1_Missense_Mutation_p.K142R|WDR72_ENST00000360509.5_Missense_Mutation_p.K142R|WDR72_ENST00000557913.1_Missense_Mutation_p.K142R	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	142								p.K142R(1)		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)		AGCCAAAGTTTTGGCATCAAT	0.408000													7	37					0	0	0.001984	0	0
BAGE2	85319	broad.mit.edu	37	21	11039169	11039169	+	RNA	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr21:11039169T>C	ENST00000470054.1	-	0	1034									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GACACTAAGGTTTCTAGTGGA	0.408000													6	333					0	0	0.001168	0	0
ZNF10	7556	broad.mit.edu	37	12	133732389	133732389	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:133732389A>T	ENST00000248211.6	+	5	779	c.557A>T	c.(556-558)cAt>cTt	p.H186L	ZNF10_ENST00000426665.2_Missense_Mutation_p.H186L|ZNF10_ENST00000402932.2_Intron|ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	186				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.H186L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GAGTATTTCCATAAACGTGAC	0.378000													9	70					0	0	0.004482	0	0
TENM1	10178	broad.mit.edu	37	X	123680902	123680902	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:123680902G>T	ENST00000422452.2	-	15	2536	c.2473C>A	c.(2473-2475)Caa>Aaa	p.Q825K	TENM1_ENST00000371130.3_Missense_Mutation_p.Q825K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.Q827K(1)									CAGTTGCTTTGTTGACAACAG	0.393000													17	73					7.07596e-05	8.32905e-05	0.006122	1	0
TAB1	10454	broad.mit.edu	37	22	39817889	39817889	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr22:39817889G>T	ENST00000216160.6	+	8	896	c.834G>T	c.(832-834)ctG>ctT	p.L278L	TAB1_ENST00000331454.3_Silent_p.L278L	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	278	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	p.L278L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CACAGCCGCTGGATGGGGTGA	0.607000													19	26					8.34094e-07	1.06204e-06	0.008871	1	0
WRN	7486	broad.mit.edu	37	8	31004915	31004915	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:31004915G>T	ENST00000298139.5	+	30	3744	c.3495G>T	c.(3493-3495)caG>caT	p.Q1165H		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1165	HRDC.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	p.Q1165H(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAGCTAGGCAGAAACATGCCA	0.343000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				10	50					0.00621372	0.00678498	0.006214	1	0
GRM7	2917	broad.mit.edu	37	3	7188146	7188146	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:7188146A>T	ENST00000486284.1	+	2	801	c.527A>T	c.(526-528)cAg>cTg	p.Q176L	GRM7_ENST00000403881.1_Missense_Mutation_p.Q176L|GRM7_ENST00000357716.4_Missense_Mutation_p.Q176L|GRM7_ENST00000389336.4_Missense_Mutation_p.Q176L|GRM7_ENST00000402647.2_Missense_Mutation_p.Q176L	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	176					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.Q176L(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CAGATCCCCCAGATTAGTTAT	0.488000													14	105					0	0	0.002450	0	0
LRP1B	53353	broad.mit.edu	37	2	141130580	141130580	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:141130580G>T	ENST00000389484.3	-	69	11736	c.10765C>A	c.(10765-10767)Cca>Aca	p.P3589T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3589					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.P3589T(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)		CTTTTACCTGGCTCACAGCTT	0.363000										TSP Lung(27;0.18)			11	120					2.27111e-07	2.94351e-07	0.001368	1	0
TTC40	54777	broad.mit.edu	37	10	134752117	134752117	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:134752117T>C	ENST00000368586.5	-	5	612	c.512A>G	c.(511-513)aAg>aGg	p.K171R	TTC40_ENST00000368585.3_Missense_Mutation_p.K171R|TTC40_ENST00000368582.2_Missense_Mutation_p.K171R	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	0								p.K171R(2)|p.K113R(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ACGCCACTCCTTGTCTTCCTC	0.602000													9	93					0	0	0.004482	0	0
DNAH2	146754	broad.mit.edu	37	17	7736826	7736826	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:7736826C>A	ENST00000572933.1	+	86	14719	c.13259C>A	c.(13258-13260)gCt>gAt	p.A4420D	DNAH2_ENST00000389173.2_Missense_Mutation_p.A4420D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4420					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A4420D(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGGGCACTGCTCTACTCATG	0.582000													10	37					2.80697e-09	3.90336e-09	0.010729	1	0
RNASEH1	246243	broad.mit.edu	37	2	3593432	3593432	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:3593432T>C	ENST00000315212.3	-	8	1159	c.804A>G	c.(802-804)atA>atG	p.I268M	RP13-512J5.1_ENST00000438485.1_Missense_Mutation_p.I19M	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	268	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding	p.I268M(1)		endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		CTTCATTGCCTATAAATCCCG	0.403000													10	41					0	0	0.010729	0	0
CA4	762	broad.mit.edu	37	17	58236674	58236674	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:58236674G>T	ENST00000300900.4	+	8	927	c.828G>T	c.(826-828)ctG>ctT	p.L276L		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	276					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding	p.G277W(1)		kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TGCAGCAGCTGGGGCAGCGCA	0.657000													6	12					3.59834e-05	4.26328e-05	0.001168	1	0
TTLL5	23093	broad.mit.edu	37	14	76241935	76241935	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:76241935G>T	ENST00000298832.9	+	22	2450	c.2245G>T	c.(2245-2247)Gcc>Tcc	p.A749S	TTLL5_ENST00000556893.1_Missense_Mutation_p.A300S|TTLL5_ENST00000557636.1_Missense_Mutation_p.A763S|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.A258S	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	749					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	p.A749S(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AAGAATCCTGGCCCACCAGCT	0.448000													34	75					6.00712e-18	9.93644e-18	0.012213	1	0
NEGR1	257194	broad.mit.edu	37	1	72400927	72400927	+	Translation_Start_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:72400927C>A	ENST00000306821.3	-	0	253				NEGR1_ENST00000434200.1_Missense_Mutation_p.G80C|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000357731.4_Missense_Mutation_p.G82C			Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1						cell adhesion	anchored to membrane|plasma membrane		p.G82C(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CACTTATCACCTCCCGCAAAA	0.418000													15	57					1.3612e-06	1.72411e-06	0.003163	1	0
WEE2	494551	broad.mit.edu	37	7	141423010	141423010	+	Silent	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:141423010C>A	ENST00000397541.2	+	6	1363	c.957C>A	c.(955-957)atC>atA	p.I319I	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	319	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.I319I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TCAAGGACATCCTTCTACAGA	0.438000													51	176					1.00776e-21	1.75932e-21	0.003610	1	0
DNAAF1	123872	broad.mit.edu	37	16	84188285	84188285	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:84188285G>T	ENST00000378553.5	+	4	580	c.456G>T	c.(454-456)gaG>gaT	p.E152D	DNAAF1_ENST00000334315.5_Missense_Mutation_p.E152D	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	152					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	p.E152D(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CCCAAACTGAGTTGCGTTGCC	0.468000													6	28					3.59834e-05	4.26328e-05	0.001168	1	0
NLRP7	199713	broad.mit.edu	37	19	55450622	55450622	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:55450622A>G	ENST00000588756.1	-	6	2051	c.1565T>C	c.(1564-1566)tTa>tCa	p.L522S	NLRP7_ENST00000340844.2_Missense_Mutation_p.L522S|NLRP7_ENST00000590030.1_Missense_Mutation_p.L522S|NLRP7_ENST00000592784.1_Missense_Mutation_p.L522S|NLRP7_ENST00000448121.2_Missense_Mutation_p.L522S|NLRP7_ENST00000328092.5_Missense_Mutation_p.L522S|NLRP7_ENST00000446217.1_Missense_Mutation_p.L550S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	522							ATP binding	p.L522S(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAGGCCGAATAAGAAGTGTCC	0.542000													13	73					0	0	0.001368	0	0
KCNH3	23416	broad.mit.edu	37	12	49950228	49950228	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:49950228G>A	ENST00000257981.6	+	13	2804	c.2544G>A	c.(2542-2544)ccG>ccA	p.P848P		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	848					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	p.P848P(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGTCTGGCCCGGAATGTAGCA	0.612000													7	71					0	0	0.001984	0	0
DEDD	9191	broad.mit.edu	37	1	161094006	161094006	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:161094006G>A	ENST00000392188.1	-	3	481	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	DEDD_ENST00000545495.1_Missense_Mutation_p.R83C|DEDD_ENST00000489249.1_Intron|DEDD_ENST00000368005.1_Missense_Mutation_p.R83C|NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000368006.3_Missense_Mutation_p.R83C|DEDD_ENST00000458050.2_Missense_Mutation_p.R83C			O75618	DEDD_HUMAN	death effector domain containing	83	DED.				apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R83C(1)		cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGCACCTGGCGAAAGTTACTT	0.567000													4	24					0	0	0.009096	0	0
CHD2	1106	broad.mit.edu	37	15	93487673	93487673	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:93487673G>C	ENST00000394196.4	+	10	2149	c.1081G>C	c.(1081-1083)Gaa>Caa	p.E361Q	CHD2_ENST00000536619.1_Missense_Mutation_p.E374Q|CHD2_ENST00000557381.1_Missense_Mutation_p.E361Q|CHD2_ENST00000420239.2_Missense_Mutation_p.E361Q	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	361					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.E361Q(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGAAGATGTAGAATATTTCAA	0.383000													4	71					0	0	0.009096	0	0
AMOT	154796	broad.mit.edu	37	X	112058719	112058719	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:112058719T>A	ENST00000371959.3	-	2	1258	c.1259A>T	c.(1258-1260)tAt>tTt	p.Y420F	AMOT_ENST00000371962.1_Missense_Mutation_p.Y188F|AMOT_ENST00000371958.1_Missense_Mutation_p.Y188F|AMOT_ENST00000524145.1_Missense_Mutation_p.Y420F|AMOT_ENST00000304758.1_Missense_Mutation_p.Y11F	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	420					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.Y11F(1)|p.Y420F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CACTGGCTGATAAGAAGCAGA	0.547000													15	124					0	0	0.004007	0	0
TMEM18	129787	broad.mit.edu	37	2	675549	675549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:675549G>A	ENST00000281017.3	-	2	232	c.139C>T	c.(139-141)Cga>Tga	p.R47*	TMEM18_ENST00000355654.2_Nonsense_Mutation_p.R34*|TMEM18_ENST00000405941.3_Nonsense_Mutation_p.R50*	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	47					cell migration	integral to membrane|nuclear membrane		p.R47*(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		CTGTAGCTTCGGGAGGACAAG	0.532000													7	73					0	0	0.004482	0	0
COL1A2	1278	broad.mit.edu	37	7	94040229	94040229	+	Missense_Mutation	SNP	G	G	T	rs72658109		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:94040229G>T	ENST00000297268.6	+	22	1697	c.1226G>T	c.(1225-1227)gGa>gTa	p.G409V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	409			G -> V (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G409V(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTCTTCCTGGAGCTGATGGC	0.443000										HNSCC(75;0.22)			39	68					2.40579e-17	3.93897e-17	0.006230	1	0
TRAV29DV5	28653	broad.mit.edu	37	14	22631734	22631734	+	RNA	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:22631734G>T	ENST00000390458.3	+	0	437																											TCCCAGCCTGGAGACTCTGCA	0.498000													5	31					3.59834e-05	4.26328e-05	0.001168	1	0
SLC7A14	57709	broad.mit.edu	37	3	170198912	170198912	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:170198912C>A	ENST00000231706.4	-	7	1474	c.1159G>T	c.(1159-1161)Gcc>Tcc	p.A387S	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	387						integral to membrane	amino acid transmembrane transporter activity	p.A387S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACGATGCAGGCCACCACTGGT	0.592000													14	23					4.3838e-07	5.63632e-07	0.001855	1	0
WDR17	116966	broad.mit.edu	37	4	177056385	177056385	+	Missense_Mutation	SNP	C	C	T	rs113488450		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:177056385C>T	ENST00000393643.2	+	8	1477	c.1225C>T	c.(1225-1227)Ccg>Tcg	p.P409S	WDR17_ENST00000508596.1_Missense_Mutation_p.P409S|WDR17_ENST00000507824.2_Missense_Mutation_p.P416S|WDR17_ENST00000280190.4_Missense_Mutation_p.P433S	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	433								p.P433S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTACACATCCCCGGGTAATGA	0.343000													17	92					0	0	0.004007	0	0
PDE3B	5140	broad.mit.edu	37	11	14880790	14880790	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:14880790A>T	ENST00000282096.4	+	13	3075	c.2722A>T	c.(2722-2724)Aag>Tag	p.K908*	PDE3B_ENST00000455098.2_Nonsense_Mutation_p.K857*	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	908	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	p.K908*(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATTCAATGCCAAGGTTTGTTA	0.294000													9	31					0	0	0.004482	0	0
MYH4	4622	broad.mit.edu	37	17	10358081	10358081	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:10358081C>A	ENST00000255381.2	-	22	2592	c.2482G>T	c.(2482-2484)Gtg>Ttg	p.V828L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	828					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.V828L(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CAGTGCTTCACATTCATGAAA	0.428000													8	89					0.000157383	0.000182147	0.003080	1	0
RPS6KA2	6196	broad.mit.edu	37	6	166844023	166844023	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:166844023C>T	ENST00000510118.1	-	18	1914	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q	RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R411Q|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R411Q|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R508Q|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.R500Q			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	500	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|magnesium ion binding|protein serine/threonine kinase activity	p.R500Q(1)|p.R508Q(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GTATCTCTGCCGGAGGATGCG	0.597000													20	51					0	0	0.007413	0	0
ASAP1	50807	broad.mit.edu	37	8	131193083	131193083	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:131193083C>A	ENST00000357668.1	-	7	601	c.574G>T	c.(574-576)Ggg>Tgg	p.G192W	ASAP1_ENST00000518721.1_Missense_Mutation_p.G192W			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	192					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.G192W(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CGGATCATCCCATGTTGTTTT	0.373000													21	198					1.22574e-08	1.66457e-08	0.002299	1	0
MAP1B	4131	broad.mit.edu	37	5	71495211	71495211	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:71495211C>A	ENST00000296755.7	+	5	6327	c.6029C>A	c.(6028-6030)aCc>aAc	p.T2010N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2010						microtubule|microtubule associated complex	structural molecule activity	p.T2010N(1)		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)		TCTTATGAAACCACTGAGAAA	0.463000													71	103					3.94839e-29	7.18746e-29	0.003610	1	0
EMD	2010	broad.mit.edu	37	X	153609423	153609423	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:153609423C>T	ENST00000369842.4	+	6	919	c.631C>T	c.(631-633)Cgt>Tgt	p.R211C	EMD_ENST00000369835.3_Missense_Mutation_p.R176C|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	211	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding	p.R211C(1)		lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCTGAAAACCGTGCTCCTGG	0.572000													10	77					0	0	0.010729	0	0
ATP13A5	344905	broad.mit.edu	37	3	193029690	193029690	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:193029690C>A	ENST00000342358.4	-	20	2477	c.2360G>T	c.(2359-2361)gGg>gTg	p.G787V	ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	787					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.G787V(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TCCTCCTTCCCCACGAGGGGT	0.403000													13	76					0.00185496	0.00206916	0.001855	1	0
KCNK9	51305	broad.mit.edu	37	8	140630624	140630624	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:140630624G>T	ENST00000520439.1	-	2	1065	c.1002C>A	c.(1000-1002)atC>atA	p.I334I	KCNK9_ENST00000303015.1_Silent_p.I334I			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	334						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.I334I(2)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			AGATCTCCTCGATCTTGTAAG	0.557000													12	89					2.68362e-12	4.04217e-12	0.001368	1	0
TEX15	56154	broad.mit.edu	37	8	30702577	30702577	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:30702577C>A	ENST00000256246.2	-	1	4031	c.3957G>T	c.(3955-3957)atG>atT	p.M1319I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1319								p.M1319I(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTAATGGGCCCATAAGGAAGT	0.368000													40	60					9.8876e-21	1.70561e-20	0.004878	1	0
IMMP2L	83943	broad.mit.edu	37	7	110526649	110526649	+	Splice_Site	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:110526649C>A	ENST00000405709.2	-	5	850	c.408_splice	c.e5+1	p.P136_splice	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Splice_Site_p.P136_splice|IMMP2L_ENST00000331762.3_Splice_Site_p.P136_splice|IMMP2L_ENST00000452895.1_Splice_Site_p.P136_splice|IMMP2L_ENST00000450877.1_Splice_Site_p.P118_splice	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	136					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity	p.P136P(1)		endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GATGACTTACCGGCCCAAAAG	0.413000													10	76					2.17888e-05	2.6071e-05	0.006214	1	0
FMN2	56776	broad.mit.edu	37	1	240555840	240555840	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:240555840T>G	ENST00000319653.9	+	15	5118	c.4888T>G	c.(4888-4890)Tca>Gca	p.S1630A	FMN2_ENST00000545751.1_Missense_Mutation_p.S226A	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1630	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.S1773A(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGAGGAAAATTCACTGACAGA	0.333000													20	127					0	0	0.010504	0	0
INSRR	3645	broad.mit.edu	37	1	156814347	156814347	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:156814347G>A	ENST00000368195.3	-	14	3040	c.2644C>T	c.(2644-2646)Ccc>Tcc	p.P882S	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	882	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.P882S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTTCCAGGGGGCAGCAGGGCC	0.572000													6	72					0	0	0.001168	0	0
CNTN5	53942	broad.mit.edu	37	11	99932087	99932087	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:99932087G>A	ENST00000524871.1	+	10	1414	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H	CNTN5_ENST00000527185.1_Missense_Mutation_p.R375H|CNTN5_ENST00000528682.1_Missense_Mutation_p.R375H|CNTN5_ENST00000418526.2_Missense_Mutation_p.R301H|CNTN5_ENST00000279463.3_Missense_Mutation_p.R375H	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	375	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.R375H(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAAAACTCACGTGGAAAAAAT	0.428000													9	41					0	0	0.006214	0	0
USP9X	8239	broad.mit.edu	37	X	41075817	41075817	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:41075817G>A	ENST00000324545.7	+	35	6630	c.5997G>A	c.(5995-5997)atG>atA	p.M1999I	USP9X_ENST00000378308.2_Missense_Mutation_p.M1999I	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1999					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	p.M1999I(1)|p.M1992I(1)		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						TACAATTCATGCATAACCGAA	0.393000													34	31					0	0	0.010818	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22259521	22259521	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:22259521C>G	ENST00000344041.6	-	9	813	c.501G>C	c.(499-501)ttG>ttC	p.L167F	RAPGEF5_ENST00000405243.1_Missense_Mutation_p.L320F|RAPGEF5_ENST00000475788.1_5'UTR	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	p.L167F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TGTCCGTCTGCAAAAACTGAT	0.448000													19	56					0	0	0.007413	0	0
FOXR2	139628	broad.mit.edu	37	X	55651039	55651039	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:55651039A>G	ENST00000339140.3	+	1	1207	c.895A>G	c.(895-897)Atg>Gtg	p.M299V		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	299					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.M299V(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CCAAGAGTGCATGAGTCAGCC	0.507000													4	86					0	0	0.009096	0	0
NDUFA10	4705	broad.mit.edu	37	2	240946746	240946746	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:240946746T>C	ENST00000252711.2	-	7	891	c.791A>G	c.(790-792)cAa>cGa	p.Q264R	NDUFA10_ENST00000404554.1_Missense_Mutation_p.Q264R|NDUFA10_ENST00000307300.4_Missense_Mutation_p.Q294R	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	264					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	p.Q264R(1)		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)	TTTTGAATCTTGAGCTTCCCT	0.318000													3	30					0	0	0.004672	0	0
OR13C5	138799	broad.mit.edu	37	9	107361235	107361235	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:107361235C>A	ENST00000374779.2	-	1	553	c.460G>T	c.(460-462)Gtc>Ttc	p.V154F		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V154F(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCAGAATTGACAGCTCCTATG	0.443000													74	175					1.63007e-36	3.06352e-36	0.003610	1	0
ANO6	196527	broad.mit.edu	37	12	45784253	45784253	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:45784253C>A	ENST00000320560.8	+	12	1560	c.1358C>A	c.(1357-1359)aCc>aAc	p.T453N	ANO6_ENST00000441606.2_Missense_Mutation_p.T435N|ANO6_ENST00000435642.1_Missense_Mutation_p.T453N|ANO6_ENST00000425752.2_Missense_Mutation_p.T453N|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Missense_Mutation_p.T474N	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	453					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.T453N(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATACGGATAACCCTCTGTGCC	0.303000													55	164					7.10663e-31	1.31178e-30	0.003610	1	0
EFCAB13	124989	broad.mit.edu	37	17	45419355	45419355	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:45419355G>T	ENST00000331493.2	+	6	671	c.260G>T	c.(259-261)gGg>gTg	p.G87V	ITGB3_ENST00000435993.2_3'UTR|ITGB3_ENST00000560629.1_3'UTR|EFCAB13_ENST00000520802.1_3'UTR|EFCAB13_ENST00000517484.1_Missense_Mutation_p.G87V	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13									p.G87V(1)									AAAAAAGTTGGGAGAAAGAGT	0.308000													17	31					2.35188e-11	3.46681e-11	0.006122	1	0
PPCS	79717	broad.mit.edu	37	1	42923009	42923009	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:42923009G>A	ENST00000372556.3	+	2	160	c.155G>A	c.(154-156)gGg>gAg	p.G52E	PPCS_ENST00000455780.1_Silent_p.G27G|PPCS_ENST00000372560.3_Silent_p.G200G|PPCS_ENST00000372561.3_Silent_p.G200G|PPCS_ENST00000372562.1_Silent_p.G27G|PPCS_ENST00000472013.1_3'UTR			Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	0					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	p.G200G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGTCATCTGGGGGCCCACTGC	0.488000													14	215					0	0	0.001855	0	0
LDHC	3948	broad.mit.edu	37	11	18436798	18436798	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:18436798T>G	ENST00000541669.1	+	3	305	c.194T>G	c.(193-195)cTt>cGt	p.L65R	LDHC_ENST00000546146.1_Missense_Mutation_p.L65R|LDHC_ENST00000535809.1_Missense_Mutation_p.L65R|LDHC_ENST00000544105.1_Missense_Mutation_p.L65R|LDHC_ENST00000280704.4_Missense_Mutation_p.L65R|LDHC_ENST00000537486.1_Missense_Mutation_p.L65R|LDHC_ENST00000536880.1_Missense_Mutation_p.L65R			P07864	LDHC_HUMAN	lactate dehydrogenase C	65					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	p.L65R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	ATGATGGATCTTCAGCATGGC	0.303000													10	56					0	0	0.010729	0	0
TMEM131	23505	broad.mit.edu	37	2	98377313	98377313	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:98377313C>A	ENST00000186436.5	-	37	5182	c.4954G>T	c.(4954-4956)Ggc>Tgc	p.G1652C		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1652						integral to membrane		p.G1652C(1)|p.G1539C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CCGTTCTTGCCCGGGAGCGAG	0.527000													34	65					1.36161e-19	2.32389e-19	0.004289	1	0
CENPI	2491	broad.mit.edu	37	X	100402979	100402979	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:100402979T>A	ENST00000372927.1	+	19	2200	c.1923T>A	c.(1921-1923)aaT>aaA	p.N641K	CENPI_ENST00000218507.5_Missense_Mutation_p.N641K|CENPI_ENST00000423383.1_Missense_Mutation_p.N641K	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	641					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	p.N641K(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AAGAATTTAATCACTATTTGA	0.373000													24	127					0	0	0.002299	0	0
IQCJ	654502	broad.mit.edu	37	3	158983083	158983083	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:158983083G>T	ENST00000482126.1	+	4	395	c.290G>T	c.(289-291)gGa>gTa	p.G97V	IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ_ENST00000451172.1_Missense_Mutation_p.G124V	NM_001197100.1	NP_001184029.1			IQ motif containing J									p.G124V(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			TTGCCTGGTGGAAGGAAGGTG	0.498000													75	118					4.01556e-35	7.51751e-35	0.003610	1	0
KMT2B	9757	broad.mit.edu	37	19	36223688	36223688	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:36223688G>T	ENST00000222270.7	+	28	6238	c.6238G>T	c.(6238-6240)Ggc>Tgc	p.G2080C	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.G2080C	NM_014727.1	NP_055542.1												p.G2082C(1)									GCAGCCTCGGGGCCAGGGCAC	0.706000													10	9					2.17888e-05	2.6071e-05	0.006214	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84606380	84606380	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:84606380G>T	ENST00000344803.2	+	4	1042	c.995G>T	c.(994-996)gGc>gTc	p.G332V		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.G332V(2)									TCTCTAGGTGGCTCTGGTGGG	0.488000													30	212					2.12542e-12	3.20471e-12	0.006320	1	0
PTPRD	5789	broad.mit.edu	37	9	8499800	8499800	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:8499800G>T	ENST00000381196.4	-	22	2712	c.2169C>A	c.(2167-2169)gtC>gtA	p.V723V	PTPRD_ENST00000360074.4_Silent_p.V710V|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000540109.1_Silent_p.V723V|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000356435.5_Silent_p.V723V|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000358503.5_Silent_p.V710V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	723	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V723V(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGTTGAGTTGACAGCCTCTA	0.458000										TSP Lung(15;0.13)			20	108					8.04996e-18	1.32852e-17	0.012319	1	0
RALGPS2	55103	broad.mit.edu	37	1	178863068	178863068	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:178863068A>T	ENST00000367635.3	+	16	1678	c.1340A>T	c.(1339-1341)gAa>gTa	p.E447V	RALGPS2_ENST00000324778.4_Missense_Mutation_p.E412V|RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.E421V	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	447					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.E447V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GCAGAATCAGAAGATTTGGCA	0.313000													8	39					0	0	0.004482	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144868162	144868162	+	Silent	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:144868162A>T	ENST00000369359.4	-	36	5723	c.5685T>A	c.(5683-5685)acT>acA	p.T1895T	PDE4DIP_ENST00000530740.1_Silent_p.T1844T|PDE4DIP_ENST00000369354.3_Silent_p.T1759T|PDE4DIP_ENST00000369356.4_Silent_p.T1759T|PDE4DIP_ENST00000313382.9_Silent_p.T1653T|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1759					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.T1759T(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAGGAGGAACAGTGCTGGCAC	0.498000			T	PDGFRB	MPD								32	137					0	0	0.003271	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008723	88008723	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:88008723A>G	ENST00000276127.4	+	3	567	c.308A>G	c.(307-309)cAc>cGc	p.H103R	CPXCR1_ENST00000373111.1_Missense_Mutation_p.H103R	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	103						intracellular	zinc ion binding	p.H103R(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TTGGTCTCTCACAAGCCCTTA	0.403000													5	27					0	0	0.000602	0	0
MCEE	84693	broad.mit.edu	37	2	71351404	71351404	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:71351404G>T	ENST00000244217.5	-	2	327	c.310C>A	c.(310-312)Cgt>Agt	p.R104S		NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	104			R -> L (in dbSNP:rs6748672).		fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity	p.R104S(1)		kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGACTGTCACGTCCCAATGGA	0.433000													21	71					4.35082e-09	6.01559e-09	0.010504	1	0
SBF1	6305	broad.mit.edu	37	22	50904684	50904684	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr22:50904684G>T	ENST00000380817.2	-	8	975	c.792C>A	c.(790-792)ttC>ttA	p.F264L	SBF1_ENST00000390679.3_Missense_Mutation_p.F264L|SBF1_ENST00000348911.6_Missense_Mutation_p.F265L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	264	DENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	p.F264L(2)		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)		GCACATAGGTGAAGCTGTGCA	0.667000													16	14					6.31663e-08	8.35109e-08	0.003163	1	0
C15orf39	56905	broad.mit.edu	37	15	75500971	75500971	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:75500971C>T	ENST00000360639.2	+	2	2902	c.2582C>T	c.(2581-2583)tCt>tTt	p.S861F	C15orf39_ENST00000567617.1_Missense_Mutation_p.S861F|C15orf39_ENST00000394987.4_Missense_Mutation_p.S861F			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	861								p.S861F(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCACCCGCTTCTGTGGACCAT	0.682000													3	11					0	0	0.004672	0	0
PI15	51050	broad.mit.edu	37	8	75757373	75757373	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:75757373A>T	ENST00000260113.2	+	4	582	c.403A>T	c.(403-405)Att>Ttt	p.I135F	RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.I135F|RP11-758M4.4_ENST00000522914.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	135						extracellular region	peptidase inhibitor activity	p.I135F(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			ATATCGCTCTATTCTCCAGTT	0.388000													36	88					0	0	0.005524	0	0
MASP1	5648	broad.mit.edu	37	3	186937956	186937956	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:186937956C>A	ENST00000337774.5	-	16	2392	c.2003G>T	c.(2002-2004)tGg>tTg	p.W668L		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	668	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.W668L(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTCATCACCCCAGGACACAGT	0.567000											OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	55					9.90768e-06	1.20641e-05	0.004656	1	0
HOOK3	84376	broad.mit.edu	37	8	42852763	42852763	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:42852763G>T	ENST00000307602.4	+	16	1803	c.1603G>T	c.(1603-1605)Ggc>Tgc	p.G535C		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	535					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	p.G535C(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			ACAGGATCAAGGCTCAAAAGC	0.308000			T	RET	papillary thyroid								4	15					0.00024832	0.000285568	0.009096	1	0
CACNA1A	773	broad.mit.edu	37	19	13340978	13340978	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:13340978G>C	ENST00000360228.5	-	36	5445	c.5446C>G	c.(5446-5448)Ctc>Gtc	p.L1816V	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1817V	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1817					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.L1817V(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCTCGGGTGAGGTACTCAAAG	0.582000													4	42					0	0	0.009096	0	0
OR10R2	343406	broad.mit.edu	37	1	158450221	158450221	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:158450221G>T	ENST00000368152.1	+	1	554	c.554G>T	c.(553-555)aGc>aTc	p.S185I	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	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S185I(1)		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)					TTAGTTTTCAGCCTCCCTTTT	0.448000													20	129					2.94398e-08	3.94984e-08	0.007413	1	0
TEX10	54881	broad.mit.edu	37	9	103064539	103064539	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr9:103064539A>C	ENST00000374902.4	-	15	2900	c.2724T>G	c.(2722-2724)caT>caG	p.H908Q	TEX10_ENST00000535814.1_Missense_Mutation_p.H892Q|TEX10_ENST00000477648.1_5'UTR	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	908						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	p.H908Q(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGAAGCAGTAATGTAAGTCTG	0.453000													7	128					0	0	0.001984	0	0
CDH13	1012	broad.mit.edu	37	16	83250957	83250957	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:83250957A>T	ENST00000566620.1	+	5	781	c.491A>T	c.(490-492)gAt>gTt	p.D164V	CDH13_ENST00000268613.10_Missense_Mutation_p.D211V|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Missense_Mutation_p.D125V	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	164	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	p.D164V(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TAGGTAGTCGATAGTGACAGG	0.443000													22	32					0	0	0.003330	0	0
FAT4	79633	broad.mit.edu	37	4	126402752	126402752	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:126402752G>T	ENST00000394329.3	+	15	12688	c.12675G>T	c.(12673-12675)cgG>cgT	p.R4225R	FAT4_ENST00000335110.5_Silent_p.R2466R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4225	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R4168R(1)|p.R4225R(1)		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						ATGAGAAGCGGGAATATTTGT	0.453000													14	83					0.000151284	0.000175932	0.001855	1	0
SPTA1	6708	broad.mit.edu	37	1	158636228	158636228	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:158636228G>T	ENST00000368148.3	-	16	2278	c.2098C>A	c.(2098-2100)Cag>Aag	p.Q700K	SPTA1_ENST00000368147.3_Missense_Mutation_p.Q700K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	700					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.Q700K(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)					AGCCAGCGCTGCAAATCTTCT	0.507000													10	28					1.58986e-06	2.00323e-06	0.008291	1	0
OR10G3	26533	broad.mit.edu	37	14	22038868	22038868	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:22038868C>G	ENST00000303532.1	-	1	7	c.8G>C	c.(7-9)aGa>aCa	p.R3T		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R3T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GCTGTTGATTCTTTCCATATC	0.388000													5	42					0	0	0.000602	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962119	73962119	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:73962119T>G	ENST00000373468.1	-	3	2924	c.2273A>C	c.(2272-2274)aAt>aCt	p.N758T	KIAA2022_ENST00000055682.5_Missense_Mutation_p.N758T			Q5QGS0	K2022_HUMAN	KIAA2022	758					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	p.N758T(1)		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						ATTCTTTAAATTAGCCTTTGA	0.408000													6	109					0	0	0.001168	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369001	86369001	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:86369001G>T	ENST00000400286.2	-	2	2241	c.1643C>A	c.(1642-1644)tCc>tAc	p.S548Y		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	548	LRRCT 2.					integral to membrane		p.S548*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATGCCCGGGGGAAGTGCAGAG	0.463000													30	46					6.07407e-21	1.05153e-20	0.007291	1	0
FAM45B	55855	broad.mit.edu	37	X	129629533	129629533	+	RNA	SNP	T	T	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:129629533T>C	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA														p.I134T(1)									ACAAAGGGGATATGCCAGAGT	0.438000													64	83					0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168067243	168067243	+	Splice_Site	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:168067243A>T	ENST00000409195.1	+	4	651		c.e4-1		XIRP2_ENST00000420519.1_Splice_Site|XIRP2_ENST00000409043.1_Splice_Site|XIRP2_ENST00000409273.1_Splice_Site|XIRP2_ENST00000409728.1_Splice_Site|XIRP2_ENST00000409605.1_Splice_Site|XIRP2_ENST00000295237.9_Splice_Site|XIRP2_ENST00000409756.2_Splice_Site	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2						actin cytoskeleton organization	cell junction	actin binding	p.?(2)		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						GTTTGCTTTCAGCGACTGCTG	0.463000													82	137					0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100686002	100686002	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:100686002C>A	ENST00000306151.4	+	3	11369	c.11305C>A	c.(11305-11307)Cct>Act	p.P3769T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3769	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P3769T(1)		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)					TACGAGGTTTCCTGAGAGTAG	0.493000													66	274					1.48873e-21	2.59586e-21	0.003610	1	0
PCDHA4	56144	broad.mit.edu	37	5	140188758	140188758	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:140188758G>T	ENST00000530339.1	+	1	1986	c.1986G>T	c.(1984-1986)acG>acT	p.T662T	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.T662T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.T662T	NM_018907.2	NP_061730.1												p.T662T(4)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGGCCACGGCCACTGTGC	0.677000													54	28					1.63038e-21	2.83944e-21	0.003610	1	0
GTDC1	79712	broad.mit.edu	37	2	144966223	144966223	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:144966223G>T	ENST00000409214.1	-	4	404	c.126C>A	c.(124-126)gcC>gcA	p.A42A	GTDC1_ENST00000241391.5_Silent_p.A42A|GTDC1_ENST00000392869.1_Silent_p.A42A|GTDC1_ENST00000344850.4_Silent_p.A42A|GTDC1_ENST00000542155.1_Silent_p.A42A|GTDC1_ENST00000463875.2_Intron|GTDC1_ENST00000409298.1_Silent_p.A42A|GTDC1_ENST00000392867.3_Silent_p.A42A	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	42					biosynthetic process		transferase activity, transferring glycosyl groups	p.A42A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CAGATGTCCGGGCTCTCCAAT	0.428000													7	72					0.00307968	0.00340126	0.003080	1	0
ZNF479	90827	broad.mit.edu	37	7	57188767	57188767	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:57188767C>A	ENST00000331162.4	-	5	625	c.355G>T	c.(355-357)Gga>Tga	p.G119*		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G119*(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTCATGTCCACATTTTCCA	0.388000													33	109					1.91693e-13	2.95807e-13	0.003610	1	0
SETBP1	26040	broad.mit.edu	37	18	42533228	42533228	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr18:42533228C>A	ENST00000282030.5	+	4	4219	c.3923C>A	c.(3922-3924)aCg>aAg	p.T1308K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1308						nucleus	DNA binding	p.T1254K(1)|p.T1308K(1)		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)		GGCTTTGGAACGTACAGGGAA	0.468000									Schinzel-Giedion syndrome				11	30					1.08611e-07	1.42681e-07	0.010729	1	0
ZNF479	90827	broad.mit.edu	37	7	57187958	57187958	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:57187958T>G	ENST00000331162.4	-	5	1434	c.1164A>C	c.(1162-1164)caA>caC	p.Q388H		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q388H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GCCTAAAGTCTTGGCCACATT	0.438000													6	34					0	0	0.006214	0	0
TRPM2	7226	broad.mit.edu	37	21	45802661	45802661	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr21:45802661C>G	ENST00000397928.1	+	9	1721	c.1276C>G	c.(1276-1278)Cag>Gag	p.Q426E	TRPM2_ENST00000300481.9_Missense_Mutation_p.Q426E|TRPM2_ENST00000397932.2_Missense_Mutation_p.Q426E|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.Q426E	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	426						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.Q426E(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CAAGGATGGTCAGCAGGACGT	0.567000													3	26					0	0	0.009096	0	0
MARC2	54996	broad.mit.edu	37	1	220935067	220935067	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:220935067T>A	ENST00000366913.3	+	3	712	c.514T>A	c.(514-516)Ttg>Atg	p.L172M	MARC2_ENST00000359316.2_Missense_Mutation_p.L172M	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	172						mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	p.L172M(1)									CACCAACTTCTTGAAAACTGA	0.418000													7	38					0	0	0.003080	0	0
PKD2L1	9033	broad.mit.edu	37	10	102053073	102053073	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:102053073T>A	ENST00000318222.3	-	10	2105	c.1723A>T	c.(1723-1725)Aag>Tag	p.K575*	PKD2L1_ENST00000353274.3_Nonsense_Mutation_p.K575*|PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.K500*	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	575					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	p.K575*(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGCTCATCCTTCTGTCCAGCC	0.507000													37	22					0	0	0.004289	0	0
BSCL2	26580	broad.mit.edu	37	11	62458593	62458593	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr11:62458593G>C	ENST00000433053.1	-	9	1582	c.1026C>G	c.(1024-1026)gaC>gaG	p.D342E	RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Missense_Mutation_p.D278E|BSCL2_ENST00000407022.3_Missense_Mutation_p.D278E|BSCL2_ENST00000405837.1_Missense_Mutation_p.D342E|BSCL2_ENST00000421906.1_Missense_Mutation_p.D278E|BSCL2_ENST00000360796.5_Missense_Mutation_p.D342E|BSCL2_ENST00000278893.7_Missense_Mutation_p.T231R			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	278					cell death	integral to endoplasmic reticulum membrane		p.D278E(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						TCCGGGAATTGTCTCTTTTTC	0.522000													10	48					0	0	0.008291	0	0
CEP135	9662	broad.mit.edu	37	4	56858234	56858234	+	Silent	SNP	A	A	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:56858234A>G	ENST00000257287.4	+	15	2116	c.1992A>G	c.(1990-1992)acA>acG	p.T664T		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	664					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	p.T664T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ATCAGAAAACAGAGGTGAACT	0.323000													7	52					0	0	0.003080	0	0
SLC22A16	85413	broad.mit.edu	37	6	110778046	110778046	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:110778046G>T	ENST00000368919.3	-	2	294	c.228C>A	c.(226-228)gcC>gcA	p.A76A	SLC22A16_ENST00000456137.2_Silent_p.A76A|SLC22A16_ENST00000439654.1_Silent_p.A76A|SLC22A16_ENST00000330550.4_Intron|SLC22A16_ENST00000461487.1_5'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	76					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.A76A(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		AAGACAACAGGGCCCCGGTGT	0.502000													89	112					3.62344e-47	6.89025e-47	0.003610	1	0
POMC	5443	broad.mit.edu	37	2	25383997	25383997	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:25383997G>C	ENST00000405623.1	-	3	1212	c.757C>G	c.(757-759)Ctg>Gtg	p.L253V	POMC_ENST00000380794.1_Missense_Mutation_p.L253V|POMC_ENST00000395826.2_Missense_Mutation_p.L253V|POMC_ENST00000264708.3_Missense_Mutation_p.L253V			P01189	COLI_HUMAN	proopiomelanocortin	253					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	p.L253V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TTTTTGAACAGCGTCACCAGG	0.642000													13	28					0	0	0.001855	0	0
DUSP13	51207	broad.mit.edu	37	10	76861637	76861637	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:76861637C>T	ENST00000491677.2	-	5	916	c.374G>A	c.(373-375)aGa>aAa	p.R125K	DUSP13_ENST00000607009.1_Intron|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000607131.1_Missense_Mutation_p.R89K|DUSP13_ENST00000372702.3_3'UTR	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	0	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R89K(1)		large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GTGGGAGTATCTGGCCCAGGC	0.557000													4	77					0	0	0.009096	0	0
NBEAP1	606	broad.mit.edu	37	15	20874904	20874904	+	RNA	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:20874904G>T	ENST00000556948.1	-	0	344																											TGCATATGGTGGTGTAGATGG	0.323000													20	58					5.03518e-11	7.34741e-11	0.007413	1	0
ZNF460	10794	broad.mit.edu	37	19	57803158	57803158	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:57803158G>T	ENST00000360338.3	+	3	1571	c.1249G>T	c.(1249-1251)Gag>Tag	p.E417*	ZNF460_ENST00000537645.1_Nonsense_Mutation_p.E376*	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E417*(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCACACTGGAGAGAAGCCCTA	0.473000													37	28					1.836e-18	3.06847e-18	0.003755	1	0
CUL4B	8450	broad.mit.edu	37	X	119678060	119678060	+	Splice_Site	SNP	T	T	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:119678060T>A	ENST00000371322.5	-	7	1145		c.e7-2		CUL4B_ENST00000336592.6_Splice_Site|CUL4B_ENST00000404115.3_Splice_Site	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B						cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	p.?(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTGATAAATCTGGAGGGGGAA	0.318000													12	18					0	0	0.001368	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76033639	76033639	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:76033639G>C	ENST00000275560.3	-	2	465	c.118C>G	c.(118-120)Ctc>Gtc	p.L40V	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	40						extracellular region|membrane	scavenger receptor activity	p.L40V(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GGCAGGAGGAGAAGGAAAGAC	0.567000													8	27					0	0	0.003080	0	0
EPHA7	2045	broad.mit.edu	37	6	93964499	93964499	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:93964499C>A	ENST00000369303.4	-	14	2582	c.2398G>T	c.(2398-2400)Gta>Tta	p.V800L		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	800	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.V800L(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTCCACCTTACTGGAATTTTT	0.353000													12	31					2.80697e-09	3.90336e-09	0.010729	1	0
KIF13A	63971	broad.mit.edu	37	6	17764426	17764426	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr6:17764426T>G	ENST00000378814.5	-	37	5188	c.5189A>C	c.(5188-5190)cAc>cCc	p.H1730P	KIF13A_ENST00000378816.5_Missense_Mutation_p.H1743P|KIF13A_ENST00000378826.2_Missense_Mutation_p.H1743P|KIF13A_ENST00000378843.2_Missense_Mutation_p.H1730P|KIF13A_ENST00000259711.6_Missense_Mutation_p.H1778P	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1778					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	p.H1778P(2)		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)			GCTGGGGTGGTGGAGCCCATC	0.468000													10	50					0	0	0.008291	0	0
GPR112	139378	broad.mit.edu	37	X	135431527	135431527	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:135431527G>A	ENST00000394143.1	+	6	5953	c.5662G>A	c.(5662-5664)Gct>Act	p.A1888T	GPR112_ENST00000394141.1_Missense_Mutation_p.A1683T|GPR112_ENST00000370652.1_Missense_Mutation_p.A1888T|GPR112_ENST00000287534.4_Missense_Mutation_p.A1825T|GPR112_ENST00000412101.1_Missense_Mutation_p.A1683T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1888					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A1888T(1)		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)					CATACCCACAGCTGAAGGTTC	0.438000													68	67					0	0	0.003610	0	0
CDH6	1004	broad.mit.edu	37	5	31322999	31322999	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:31322999A>T	ENST00000265071.2	+	12	2222	c.1957A>T	c.(1957-1959)Aga>Tga	p.R653*		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	653					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.R653*(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAGGACATCAGAGATAACAT	0.478000													34	50					0	0	0.010818	0	0
ALK	238	broad.mit.edu	37	2	30143133	30143133	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:30143133G>A	ENST00000389048.3	-	1	1299	c.393C>T	c.(391-393)tcC>tcT	p.S131S	ALK_ENST00000431873.1_Silent_p.S131S	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	131					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.S131S(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCTTGCGCACGGAGCCGCCCT	0.741000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				5	12					0	0	0.000602	0	0
MAP4K3	8491	broad.mit.edu	37	2	39499673	39499673	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:39499673C>A	ENST00000263881.3	-	25	2129	c.1805G>T	c.(1804-1806)cGa>cTa	p.R602L	MAP4K3_ENST00000341681.5_Missense_Mutation_p.R581L|MAP4K3_ENST00000536018.1_Missense_Mutation_p.R155L|MAP4K3_ENST00000437545.1_Missense_Mutation_p.R518L	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	602	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R602L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TGTACACCTTCGAGGGAATAG	0.289000													30	55					2.2171e-23	3.94182e-23	0.009535	1	0
CLDN17	26285	broad.mit.edu	37	21	31538561	31538561	+	Silent	SNP	G	G	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr21:31538561G>A	ENST00000286808.3	-	1	410	c.375C>T	c.(373-375)ctC>ctT	p.L125L		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	125					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.L125L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TCAGGATGAAGAGGACTCCTG	0.507000													25	65					0	0	0.003954	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552069	178552069	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:178552069G>T	ENST00000251582.7	-	19	2964	c.2863C>A	c.(2863-2865)Cac>Aac	p.H955N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	955	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.H955N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGCTTGGCGTGCACGGAGCGG	0.697000													41	49					2.24893e-16	3.62885e-16	0.009718	1	0
THSD7A	221981	broad.mit.edu	37	7	11521554	11521554	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:11521554G>T	ENST00000423059.3	-	7	2129	c.1878C>A	c.(1876-1878)gcC>gcA	p.A626A	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	626						integral to membrane		p.A626A(1)		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)		GGGCATCACAGGCCACAGGGA	0.507000										HNSCC(18;0.044)			13	52					1.61879e-10	2.33164e-10	0.001368	1	0
PTPRN2	5799	broad.mit.edu	37	7	157364164	157364164	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:157364164C>A	ENST00000389413.3	-	19	2821	c.2718G>T	c.(2716-2718)agG>agT	p.R906S	PTPRN2_ENST00000404321.2_Missense_Mutation_p.R958S|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R897S|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R918S|PTPRN2_ENST00000389418.4_Missense_Mutation_p.R935S	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	935	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R935I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AAGAACGGCCCCTGTAGCACT	0.318000													21	72					1.96292e-10	2.8189e-10	0.010504	1	0
SCFD1	23256	broad.mit.edu	37	14	31099691	31099691	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr14:31099691T>G	ENST00000458591.2	+	3	368	c.141T>G	c.(139-141)atT>atG	p.I47M	SCFD1_ENST00000396629.2_Intron|SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000421551.3_Intron|SCFD1_ENST00000544052.2_5'UTR	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	47					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	p.I47M(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AGGTACTCATTTATGACAGAT	0.323000													9	71					0	0	0.001368	0	0
ETNPPL	64850	broad.mit.edu	37	4	109681047	109681047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:109681047C>A	ENST00000296486.3	-	3	347	c.193G>T	c.(193-195)Gga>Tga	p.G65*	ETNPPL_ENST00000510706.1_Nonsense_Mutation_p.G25*|ETNPPL_ENST00000411864.2_Splice_Site|ETNPPL_ENST00000512646.1_Nonsense_Mutation_p.G7*	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase									p.G65*(1)									TTGACCACTCCTGGGTGACAG	0.418000													10	36					7.48243e-07	9.56932e-07	0.006214	1	0
C10orf90	118611	broad.mit.edu	37	10	128147646	128147646	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:128147646G>T	ENST00000284694.7	-	6	1980	c.1860C>A	c.(1858-1860)acC>acA	p.T620T	C10orf90_ENST00000544758.1_Silent_p.T717T|C10orf90_ENST00000454341.1_Silent_p.T523T|C10orf90_ENST00000356858.3_Silent_p.T573T|C10orf90_ENST00000480379.1_Silent_p.T24T	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	620								p.T620T(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GCTTCTTGCTGGTGCGGATGG	0.572000													40	30					9.73076e-26	1.74503e-25	0.006999	1	0
TAS2R16	50833	broad.mit.edu	37	7	122635151	122635151	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:122635151C>G	ENST00000249284.2	-	1	603	c.538G>C	c.(538-540)Gct>Cct	p.A180P		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	180					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.A180P(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTGTATGAGCCTGGAACTGA	0.418000													58	84					0	0	0.003610	0	0
SLC35F6	54978	broad.mit.edu	37	2	27001208	27001208	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:27001208C>A	ENST00000344420.5	+	6	1007	c.945C>A	c.(943-945)ttC>ttA	p.F315L	SLC35F6_ENST00000416475.2_Missense_Mutation_p.F232L|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2			solute carrier family 35, member F6									p.F315L(1)									GGGAGGCCTTCCATGCACTGC	0.632000													12	78					9.05144e-12	1.34656e-11	0.001855	1	0
GABRG3	2567	broad.mit.edu	37	15	27777962	27777962	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:27777962G>T	ENST00000333743.6	+	10	1593	c.1339G>T	c.(1339-1341)Gtc>Ttc	p.V447F	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	447					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.V447F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GTACTCCCGGGTCTTTTTCCC	0.478000													12	44					0.000978159	0.00110043	0.010729	1	0
MMRN1	22915	broad.mit.edu	37	4	90872784	90872784	+	Silent	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:90872784G>T	ENST00000394980.1	+	8	3466	c.3147G>T	c.(3145-3147)ccG>ccT	p.P1049P	MMRN1_ENST00000508372.1_Silent_p.P791P|MMRN1_ENST00000394981.1_Silent_p.P352P|MMRN1_ENST00000264790.2_Silent_p.P1049P			Q13201	MMRN1_HUMAN	multimerin 1	1049	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.P1049P(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTCGGCATCCGTGCCAAAATG	0.428000													9	47					1.12685e-05	1.36866e-05	0.004482	1	0
FANCB	2187	broad.mit.edu	37	X	14883071	14883071	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:14883071C>G	ENST00000398334.1	-	3	829	c.562G>C	c.(562-564)Gaa>Caa	p.E188Q	FANCB_ENST00000324138.3_Missense_Mutation_p.E188Q	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	188					DNA repair	nucleoplasm		p.E188Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					AAACAACATTCCTTTAGTCCC	0.353000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				37	141					0	0	0.004289	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298619	125298619	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:125298619G>T	ENST00000538699.1	-	2	1369	c.1289C>A	c.(1288-1290)gCg>gAg	p.A430E	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A430E	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	430								p.A430G(4)|p.A430E(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGTGTAGAGCGCATTGGGGAA	0.602000													19	122					1.00905e-13	1.56208e-13	0.008871	1	0
DRD5	1816	broad.mit.edu	37	4	9784742	9784742	+	Silent	SNP	C	C	A	rs143226097		TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:9784742C>A	ENST00000304374.2	+	1	1485	c.1089C>A	c.(1087-1089)gcC>gcA	p.A363A		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	363					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.A363A(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CCTTCAACGCCGACTTTCAGA	0.597000													4	61					0.00909568	0.00985762	0.009096	1	0
RFX5	5993	broad.mit.edu	37	1	151315112	151315112	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:151315112delC	ENST00000290524.4	-	11	1579	c.1401delG	c.(1399-1401)ggfs	p.G467fs	RFX5_ENST00000452671.2_Frame_Shift_Del_p.G467fs|RFX5_ENST00000368870.2_Frame_Shift_Del_p.G467fs|RFX5_ENST00000452513.2_Frame_Shift_Del_p.G427fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	467						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)			TTCGAGGGCGCCCCCGTTTCC	0.537													153	1040	---	---	---	---					
TOR1AIP2	163590	broad.mit.edu	37	1	179815899	179815899	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:179815899delG	ENST00000367612.3	-	6	1107	c.720delC	c.(718-720)tcfs	p.S241fs		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	241						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GGGCTGGAGAGGAATAGTAGC	0.453													36	54	---	---	---	---					
KCNT2	343450	broad.mit.edu	37	1	196250051	196250051	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr1:196250051delG	ENST00000367433.5	-	24	2878	c.2777delC	c.(2776-2778)ttfs	p.S926fs	KCNT2_ENST00000294725.8_Frame_Shift_Del_p.S950fs|KCNT2_ENST00000367431.4_Frame_Shift_Del_p.S876fs|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	950						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATCTCCAGTAGAAGAACACAA	0.323													30	21	---	---	---	---					
C2orf61	285051	broad.mit.edu	37	2	47378505	47378506	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:47378505_47378506insA	ENST00000294947.2	-	3	325_326	c.290_291insT	c.(289-291)ccafs	p.P97fs	CALM2_ENST00000422269.1_5'UTR|C2orf61_ENST00000445927.2_Frame_Shift_Ins_p.P97fs	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	97								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCATATACTGCGGAAGATCATT	0.431													46	168	---	---	---	---					
KDM3A	55818	broad.mit.edu	37	2	86705065	86705096	+	Frame_Shift_Del	DEL	ATCTTCAACCTGCACTGGGTGTGTCCTCGGTG	ATCTTCAACCTGCACTGGGTGTGTCCTCGGTG	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:86705065_86705096delATCTTCAACCTGCACTGGGTGTGTCCTCGGTG	ENST00000409556.1	+	14	2370_2401	c.2005_2036delATCTTCAACCTGCACTGGGTGTGTCCTCGGTG	c.(2005-2037)tfs	p.IFNLHWVCPRC669fs	KDM3A_ENST00000542128.1_Frame_Shift_Del_p.IFNLHWVCPRC617fs|KDM3A_ENST00000409064.1_Frame_Shift_Del_p.IFNLHWVCPRC669fs|KDM3A_ENST00000312912.5_Frame_Shift_Del_p.IFNLHWVCPRC669fs			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	669					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.N671S(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CGACACCACCATCTTCAACCTGCACTGGGTGTGTCCTCGGTGTGGGTTTGGA	0.483													9	99	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91885991	91885991	+	RNA	DEL	A	A	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:91885991delA	ENST00000436174.1	-	0	808																											TTTGTGCTACAAGTGAAGATC	0.279													9	122	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179597060	179597060	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:179597060delC	ENST00000589042.1	-	57	16860	c.16636delG	c.(16636-16638)ttfs	p.V5546fs	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.V4302fs|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Frame_Shift_Del_p.V5229fs|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5229	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTTTTCAACAAATGTGGCA	0.393													21	193	---	---	---	---					
EPHA4	2043	broad.mit.edu	37	2	222428959	222428960	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr2:222428959_222428960insA	ENST00000281821.2	-	3	355_356	c.314_315insT	c.(313-315)tagfs	p.*105fs	EPHA4_ENST00000409938.1_Frame_Shift_Ins_p.*105fs|EPHA4_ENST00000392071.4_Frame_Shift_Ins_p.*54fs|EPHA4_ENST00000409854.1_Frame_Shift_Ins_p.*105fs	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	105						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGCAGTCCCTCAAGGTGAATTT	0.475													40	100	---	---	---	---					
ARPP21	10777	broad.mit.edu	37	3	35723355	35723356	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:35723355_35723356delGA	ENST00000187397.4	+	3	568_569	c.112_113delGA	c.(112-114)gfs	p.E38fs	ARPP21_ENST00000438071.1_Frame_Shift_Del_p.E38fs|ARPP21_ENST00000432682.1_Frame_Shift_Del_p.E38fs|ARPP21_ENST00000441454.1_Frame_Shift_Del_p.E38fs|ARPP21_ENST00000396482.2_Frame_Shift_Del_p.E38fs|ARPP21_ENST00000458225.1_Frame_Shift_Del_p.E38fs|ARPP21_ENST00000427542.1_Frame_Shift_Del_p.E38fs|ARPP21_ENST00000337271.5_Frame_Shift_Del_p.E38fs|ARPP21_ENST00000474696.1_Frame_Shift_Del_p.E38fs|ARPP21_ENST00000436702.1_Frame_Shift_Del_p.E38fs|ARPP21_ENST00000428373.1_Frame_Shift_Del_p.E38fs|ARPP21_ENST00000417925.1_Frame_Shift_Del_p.E38fs|ARPP21_ENST00000444190.1_Frame_Shift_Del_p.E38fs|ARPP21_ENST00000396481.2_Frame_Shift_Del_p.E38fs|ARPP21_ENST00000412048.1_Frame_Shift_Del_p.E38fs	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	38						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGATGAAGAGGAGAAACTGGAA	0.460													29	36	---	---	---	---					
TBC1D23	55773	broad.mit.edu	37	3	100013984	100013987	+	Frame_Shift_Del	DEL	GGAT	GGAT	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr3:100013984_100013987delGGAT	ENST00000394144.4	+	6	661_664	c.654_657delGGAT	c.(652-657)tgfs	p.WD218fs	TBC1D23_ENST00000475134.1_Frame_Shift_Del_p.WD81fs|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Frame_Shift_Del_p.WD218fs	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	218	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AGGCAATATGGGATGGATATCTAC	0.343													10	117	---	---	---	---					
AFM	173	broad.mit.edu	37	4	74353498	74353498	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr4:74353498delG	ENST00000226355.3	+	6	766	c.673delG	c.(673-675)ggfs	p.G225fs		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	225	Albumin 2.				vitamin transport		vitamin E binding	p.G225W(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACATGTCTGTGGGGCACTTTT	0.328													8	45	---	---	---	---					
AMACR	23600	broad.mit.edu	37	5	33989210	33989210	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:33989210delT	ENST00000335606.6	-	5	1225	c.1137delA	c.(1135-1137)aafs	p.K379fs	AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382085.3_Intron|AMACR_ENST00000502637.1_Frame_Shift_Del_p.K364fs|AMACR_ENST00000382072.2_3'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	379					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						AGAGACTAGCTTTTACCTTAT	0.383													7	53	---	---	---	---					
KIF4B	285643	broad.mit.edu	37	5	154393713	154393713	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr5:154393713delG	ENST00000435029.4	+	1	454	c.294delG	c.(292-294)atfs	p.M98fs		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	98	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCTATTCAATGGGAGGTGCAT	0.428													48	56	---	---	---	---					
PLXNA4	91584	broad.mit.edu	37	7	132192628	132192628	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:132192628delC	ENST00000359827.3	-	2	1787	c.825delG	c.(823-825)gtfs	p.V275fs	PLXNA4_ENST00000378539.5_Frame_Shift_Del_p.V275fs|PLXNA4_ENST00000423507.2_Frame_Shift_Del_p.V275fs|PLXNA4_ENST00000321063.4_Frame_Shift_Del_p.V275fs			Q9HCM2	PLXA4_HUMAN	plexin A4	275	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGGATGTATACACCTGCTCCT	0.527													14	36	---	---	---	---					
CLEC5A	23601	broad.mit.edu	37	7	141631528	141631528	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:141631528delG	ENST00000546910.1	-	6	640	c.444delC	c.(442-444)ttfs	p.F148fs	MGAM_ENST00000497554.1_3'UTR|CLEC5A_ENST00000439991.1_Frame_Shift_Del_p.F44fs|CLEC5A_ENST00000470595.1_5'UTR|CLEC5A_ENST00000438351.1_Frame_Shift_Del_p.F125fs|CLEC5A_ENST00000551012.2_Frame_Shift_Del_p.F125fs	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	148	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					ACTTGCCATTGAACACAGAGT	0.428													16	87	---	---	---	---					
PRSS1	5644	broad.mit.edu	37	7	142458441	142458441	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:142458441delG	ENST00000486171.1	+	2	93	c.76delG	c.(76-78)ggfs	p.G27fs	PRSS1_ENST00000311737.7_Frame_Shift_Del_p.G27fs			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	27	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CAAGATCGTTGGGGGCTACAA	0.547													14	271	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142479944	142479944	+	RNA	DEL	G	G	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:142479944delG	ENST00000603901.1	+	0	76					NR_001296.3																						CAAGATCGTTGGGGGCTACAC	0.557													14	61	---	---	---	---					
OR2F2	135948	broad.mit.edu	37	7	143632636	143632636	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:143632636delC	ENST00000408955.2	+	1	378	c.311delC	c.(310-312)tcfs	p.S104fs		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TTATTTTTCTCCCTGGCCTTG	0.542													17	206	---	---	---	---					
AOC1	26	broad.mit.edu	37	7	150558147	150558147	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr7:150558147delC	ENST00000493429.1	+	7	2690	c.2106delC	c.(2104-2106)ttfs	p.F702fs	AOC1_ENST00000416793.2_Frame_Shift_Del_p.F721fs|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Frame_Shift_Del_p.F702fs|AOC1_ENST00000360937.4_Frame_Shift_Del_p.F702fs					amine oxidase, copper containing 1																		TCAACTTCTTCCCAGAGGACC	0.617													13	45	---	---	---	---					
C8orf37	157657	broad.mit.edu	37	8	96275920	96275921	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr8:96275920_96275921insT	ENST00000286688.5	-	2	248_249	c.237_238insA	c.(235-240)aacctcfs	p.NL79fs		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	79										kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					CTTACAGAGGGTTTTTTGTCCA	0.312													11	65	---	---	---	---					
GPR158	57512	broad.mit.edu	37	10	25886710	25886710	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:25886710delA	ENST00000376351.3	+	11	2514	c.2155delA	c.(2155-2157)aafs	p.K720fs	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	720						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGACGAGCTGAAAAAACTCTA	0.408													12	124	---	---	---	---					
AGAP6	414189	broad.mit.edu	37	10	51769059	51769059	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr10:51769059delC	ENST00000374056.4	+	7	1503	c.1105delC	c.(1105-1107)ccfs	p.P370fs	AGAP6_ENST00000412531.3_Frame_Shift_Del_p.P393fs			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	393					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GCTCAACCCGCCCCCCTCTCC	0.507													23	249	---	---	---	---					
SPIC	121599	broad.mit.edu	37	12	101880362	101880362	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:101880362delG	ENST00000551346.1	+	6	719	c.560delG	c.(559-561)agfs	p.R187fs	SPIC_ENST00000299272.5_Frame_Shift_Del_p.R187fs			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	187						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AAAATCCGGAGGAAGCTGACT	0.458													62	75	---	---	---	---					
TBX3	6926	broad.mit.edu	37	12	115117764	115117764	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr12:115117764delG	ENST00000257566.3	-	3	1060	c.671delC	c.(670-672)cafs	p.P224fs	TBX3_ENST00000349155.2_Intron	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	224					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GTGATCACTTGGGAAGGCCAA	0.438													21	48	---	---	---	---					
FREM2	341640	broad.mit.edu	37	13	39425876	39425876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr13:39425876delC	ENST00000280481.7	+	11	7012	c.6796delC	c.(6796-6798)ctfs	p.P2266fs		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2266	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACCCAAAGAACCTGGAGAGTC	0.418													17	38	---	---	---	---					
CIB2	10518	broad.mit.edu	37	15	78398247	78398247	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:78398247delC	ENST00000258930.3	-	5	704	c.376delG	c.(376-378)agfs	p.E126fs	CIB2_ENST00000557846.1_Frame_Shift_Del_p.E77fs|CIB2_ENST00000539011.1_Frame_Shift_Del_p.E83fs|CIB2_ENST00000560618.1_Frame_Shift_Del_p.E83fs	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	126	EF-hand 2.						calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						TCCAGGTCCTCCTTGCAGATG	0.562													25	51	---	---	---	---					
ZNF592	9640	broad.mit.edu	37	15	85345528	85345528	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr15:85345528delG	ENST00000299927.3	+	8	3730	c.3708delG	c.(3706-3708)ctfs	p.L1236fs	ZNF592_ENST00000560079.2_Frame_Shift_Del_p.L1236fs			Q92610	ZN592_HUMAN	zinc finger protein 592	1236					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGATTGCTGGGCCCGGCCC	0.617													10	24	---	---	---	---					
CRYM-AS1	400508	broad.mit.edu	37	16	21328200	21328200	+	RNA	DEL	T	T	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr16:21328200delT	ENST00000444326.1	+	0	316																											GATGTATTGCTTTAGTTGTGG	0.348													18	152	---	---	---	---					
DNAH9	1770	broad.mit.edu	37	17	11593607	11593609	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:11593607_11593609delTTC	ENST00000262442.3	+	20	4536_4538	c.4468_4470delTTC	c.(4468-4470)del	p.F1491del	DNAH9_ENST00000454412.2_In_Frame_Del_p.F1491del	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1491	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTATGTTGCTTTCTTCTTGGAGG	0.502													36	143	---	---	---	---					
LYZL6	57151	broad.mit.edu	37	17	34263800	34263800	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr17:34263800delG	ENST00000585556.1	-	4	670	c.336delC	c.(334-336)tgfs	p.C112fs	LYZL6_ENST00000293274.4_Frame_Shift_Del_p.C112fs|LYZL6_ENST00000394523.3_Frame_Shift_Del_p.C112fs			O75951	LYZL6_HUMAN	lysozyme-like 6	112					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCCTTTTTGCGCAGTGGATGC	0.572													24	83	---	---	---	---					
LPHN1	22859	broad.mit.edu	37	19	14269997	14269997	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:14269997delC	ENST00000340736.6	-	12	2366	c.2069delG	c.(2068-2070)gcfs	p.G690fs	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Frame_Shift_Del_p.G685fs	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	690					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGCACCTGGCCCTCTGTGTT	0.592													25	51	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17068695	17068695	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:17068695delG	ENST00000443236.1	-	19	2416	c.2385delC	c.(2383-2385)ccfs	p.P795fs	CPAMD8_ENST00000388925.4_3'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	748						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			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						TCCATGTTTCGGGGAAGAAAG	0.393													48	221	---	---	---	---					
C5AR1	728	broad.mit.edu	37	19	47824025	47824026	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chr19:47824025_47824026delGA	ENST00000355085.3	+	2	1013_1014	c.991_992delGA	c.(991-993)gfs	p.E331fs		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	331					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CGTGGTTAGGGAGAGCAAGTCA	0.619													37	37	---	---	---	---					
FAM47C	442444	broad.mit.edu	37	X	37027370	37027370	+	Frame_Shift_Del	DEL	G	G	-	rs140151778	byFrequency	TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:37027370delG	ENST00000358047.3	+	1	939	c.887delG	c.(886-888)cgfs	p.R296fs		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	296										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CATCTCCATCGGGAGCCTCCT	0.597													40	46	---	---	---	---					
XIST	7503	broad.mit.edu	37	X	73071761	73071762	+	RNA	INS	-	-	A			TCGA-05-4427-01A-21D-1855-08	TCGA-05-4427-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	736e0134-8b1a-4ff1-9106-ca09c9812ef6	486af110-e61e-4e67-b5fa-f0eef31227cb	g.chrX:73071761_73071762insA	ENST00000429829.1	-	0	826_827					NR_001564.2																						TGATCAGCAGCAAAAAAAAGTG	0.416													8	75	---	---	---	---					
