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
FCER2	2208	broad.mit.edu	37	19	7754204	7754204	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:7754204C>T	ENST00000346664.5	-	11	1053	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	FCER2_ENST00000597921.1_Missense_Mutation_p.V281M|FCER2_ENST00000360067.4_Missense_Mutation_p.V280M	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	281	C-type lectin.				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CGGTCGCACACCCAGGCGCCC	0.697000													10	19					0	0	0.000673444	0	0
PTGFR	5737	broad.mit.edu	37	1	78958951	78958951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:78958951C>T	ENST00000370756.3	+	2	760	c.523C>T	c.(523-525)Cga>Tga	p.R175*	PTGFR_ENST00000370758.1_Nonsense_Mutation_p.R175*|PTGFR_ENST00000370757.3_Nonsense_Mutation_p.R175*	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	175					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CCTTGGACATCGAGACTATAA	0.373000													64	77					0	0	0.000781405	0	0
SLC12A7	10723	broad.mit.edu	37	5	1053505	1053505	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:1053505T>C	ENST00000264930.5	-	23	3162	c.3119A>G	c.(3118-3120)aAc>aGc	p.N1040S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	1040					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACCTGGCATGTTGAGCAGGAC	0.612000													6	30					0	0	0.00198382	0	0
OR52K1	390036	broad.mit.edu	37	11	4510907	4510907	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:4510907C>T	ENST00000307632.3	+	1	799	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I259I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGTAGTCATCTCTTCAGTCA	0.527000													41	61					0	0	0.000781405	0	0
FLG	2312	broad.mit.edu	37	1	152282067	152282067	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:152282067G>A	ENST00000368799.1	-	3	5330	c.5295C>T	c.(5293-5295)ttC>ttT	p.F1765F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1765	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.F1765F(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGGTAGAGGAAAGACCCTG	0.612000									Ichthyosis				67	95					0	0	0.000781405	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68213613	68213613	+	Missense_Mutation	SNP	G	G	A	rs144506580		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:68213613G>A	ENST00000262215.3	-	3	547	c.158C>T	c.(157-159)cCt>cTt	p.P53L		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	53					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCCATGAGGAGGACTAAATGA	0.348000													17	49					0	0	0.00121646	0	0
ZFP69B	65243	broad.mit.edu	37	1	40928144	40928144	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:40928144C>T	ENST00000411995.2	+	6	863	c.488C>T	c.(487-489)tCg>tTg	p.S163L	ZFP69B_ENST00000361584.3_Missense_Mutation_p.S61L|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B									p.S61L(2)									AATGATATTTCGTGGGAAGAA	0.338000													103	102					0	0	0.000781405	0	0
C1orf65	164127	broad.mit.edu	37	1	223568396	223568396	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:223568396G>A	ENST00000366875.3	+	1	1682	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	527										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GACCACTAGGGACAAGGTGCA	0.542000													18	33					0	0	0.00188189	0	0
OR4K2	390431	broad.mit.edu	37	14	20345228	20345228	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:20345228G>A	ENST00000298642.2	+	1	838	c.802G>A	c.(802-804)Gac>Aac	p.D268N		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTTCTCACAGACAAGATTCT	0.398000													15	70					0	0	0.000308642	0	0
ANKS1B	56899	broad.mit.edu	37	12	99223026	99223026	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:99223026C>T	ENST00000547776.2	-	19	2991	c.2992G>A	c.(2992-2994)Gat>Aat	p.D998N	ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000333732.7_Missense_Mutation_p.D4N|ANKS1B_ENST00000332712.7_Intron|ANKS1B_ENST00000549493.2_Missense_Mutation_p.D224N|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.D998N|ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000546960.1_Missense_Mutation_p.D224N|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000341752.7_Missense_Mutation_p.D4N	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	998						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTCCTTGCATCGCCCTGCATG	0.463000													46	73					0	0	0.000781405	0	0
FBLN1	2192	broad.mit.edu	37	22	45959046	45959046	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:45959046C>T	ENST00000402984.3	+	16	2169	c.2066C>T	c.(2065-2067)cCc>cTc	p.P689L	FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000262722.7_Missense_Mutation_p.P651L|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000442170.2_Intron			P23142	FBLN1_HUMAN	fibulin 1	669					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTCCCCGAGCCCAGGGACTTG	0.612000													53	12					0	0	0.000781405	0	0
MYH10	4628	broad.mit.edu	37	17	8393840	8393840	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:8393840G>A	ENST00000360416.3	-	35	4840	c.4702C>T	c.(4702-4704)Cta>Tta	p.L1568L	MYH10_ENST00000396239.1_Silent_p.L1558L|MYH10_ENST00000379980.4_Silent_p.L1553L|MYH10_ENST00000269243.4_Silent_p.L1537L	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1537					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGCTGCTCTAGGGCCCGTTTG	0.532000													23	26					0	0	0.00047179	0	0
KRT3	3850	broad.mit.edu	37	12	53189302	53189302	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:53189302G>A	ENST00000417996.2	-	1	599	c.525C>T	c.(523-525)atC>atT	p.I175I	KRT3_ENST00000309505.3_Silent_p.I175I	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	175	Head.			I -> T (in Ref. 1; CAA28991).	epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GACTCTGGTTGATAGTCACTT	0.582000													13	5					0	0	0.00185496	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13928122	13928122	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:13928122C>T	ENST00000254323.2	+	7	1462	c.1273C>T	c.(1273-1275)Ctg>Ttg	p.L425L	ZSWIM4_ENST00000440752.2_Silent_p.L259L	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	425							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CAGGGCGCTCCTGGAGGCCTG	0.632000													20	28					0	0	0.00152264	0	0
MIXL1	83881	broad.mit.edu	37	1	226413317	226413317	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:226413317C>T	ENST00000366810.5	+	2	567	c.503C>T	c.(502-504)aCg>aTg	p.T168M	MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Missense_Mutation_p.T176M			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	168					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		GGAACTGAAACGAAATGTCTG	0.557000													14	39					0	0	0.00244969	0	0
ASXL1	171023	broad.mit.edu	37	20	31024516	31024516	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:31024516C>T	ENST00000375687.4	+	13	4425	c.4001C>T	c.(4000-4002)cCc>cTc	p.P1334L	ASXL1_ENST00000306058.5_Missense_Mutation_p.P1329L	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1334					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCAGTTTTTCCCAGTGGGAAG	0.577000			"""F, N, Mis"""		"""MDS, CMML"""								17	24					0	0	0.000566183	0	0
MUC2	4583	broad.mit.edu	37	11	1085744	1085744	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:1085744G>A	ENST00000441003.2	+	21	2692	c.2664_splice	c.e21-1	p.D889_splice	MUC2_ENST00000359061.5_Splice_Site_p.D889_splice	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	889	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGGCCCCCAGGACTACTGCGG	0.637000													10	13					0	0	0.000442599	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028047	45028047	+	RNA	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:45028047C>T	ENST00000454753.1	-	0	722							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TGGGGTCGCTCCTCTGGCTCA	0.537000													79	107					0	0	0.000781405	0	0
CD163L1	283316	broad.mit.edu	37	12	7510023	7510023	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:7510023G>A	ENST00000313599.3	-	19	4396	c.4339C>T	c.(4339-4341)Cct>Tct	p.P1447S	CD163L1_ENST00000416109.2_Missense_Mutation_p.P1457S|CD163L1_ENST00000396630.1_Missense_Mutation_p.P1415S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1447						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCAGAGGCAGGAAGAACTCCC	0.413000													18	53					0	0	0.00188189	0	0
PRAMEF19	645414	broad.mit.edu	37	1	13695858	13695858	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:13695858G>A	ENST00000540591.1	-	3	1153	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	PRAMEF19_ENST00000376101.2_Silent_p.I300I	NM_001099790.1	NP_001093260.2			PRAME family member 19											lung(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCAGGCAGGATGACCCTGA	0.567000													100	112					0	0	0.000781405	0	0
LRRTM2	26045	broad.mit.edu	37	5	138209934	138209934	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:138209934G>A	ENST00000274711.6	-	2	694	c.316C>T	c.(316-318)Caa>Taa	p.Q106*	CTNNA1_ENST00000302763.7_Intron|LRRTM2_ENST00000518785.1_Intron|LRRTM2_ENST00000521094.2_Intron|LRRTM2_ENST00000523537.1_Intron|CTNNA1_ENST00000520400.1_Intron|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000355078.5_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	106						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TATAGTCCTTGAAAAGCATCT	0.338000													12	52					0	0	0.000978159	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145972568	145972568	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:145972568C>T	ENST00000394413.3	-	8	1588	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.D340N|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.D398N|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.D406N|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.D346N|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.D340N|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.D343N|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.D329N|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.D329N|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.D340N			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	340					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAAATTTATCAAAAATGCAG	0.418000													64	90					0	0	0.000781405	0	0
ODF1	4956	broad.mit.edu	37	8	103573090	103573090	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:103573090C>T	ENST00000285402.3	+	2	887	c.731C>T	c.(730-732)tCc>tTc	p.S244F	ODF1_ENST00000518835.1_Missense_Mutation_p.S37F	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	244					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AGCCGATTTTCCTGTAGGAAG	0.532000													30	67					0	0	0.000692331	0	0
OR1F1	4992	broad.mit.edu	37	16	3254454	3254454	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:3254454G>A	ENST00000304646.2	+	1	208	c.208G>A	c.(208-210)Gac>Aac	p.D70N	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GTCTTTTGTGGACATCTGCTT	0.527000													45	59					0	0	0.000781405	0	0
BCKDHA	593	broad.mit.edu	37	19	41925134	41925134	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:41925134C>T	ENST00000269980.2	+	5	947	c.579C>T	c.(577-579)gtC>gtT	p.V193V	BCKDHA_ENST00000595085.1_Silent_p.V227V|CTC-435M10.3_ENST00000540732.1_Silent_p.V227V|BCKDHA_ENST00000457836.2_Silent_p.V171V|BCKDHA_ENST00000535632.1_3'UTR	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	193					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						AGATGCCTGTCCACTACGGCT	0.572000													10	13					0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	9062685	9062685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:9062685C>T	ENST00000397910.4	-	3	24964	c.24761G>A	c.(24760-24762)tGg>tAg	p.W8254*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8256	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGACTAGGCCATAACATATC	0.502000													14	24					0	0	0.000308642	0	0
ALDOB	229	broad.mit.edu	37	9	104187776	104187776	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:104187776G>A	ENST00000374855.4	-	7	882	c.758C>T	c.(757-759)aCc>aTc	p.T253I		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	253					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				AGCTGTTACGGTGGCCATAGC	0.507000													30	61					0	0	0.0024448	0	0
MTL5	9633	broad.mit.edu	37	11	68478403	68478403	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:68478403C>T	ENST00000255087.5	-	9	1456	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	425					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGGCTGCCTTCCAAACCTCCA	0.418000													19	19					0	0	0.00121646	0	0
HCAR2	338442	broad.mit.edu	37	12	123187700	123187700	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:123187700C>T	ENST00000328880.5	-	1	190	c.131G>A	c.(130-132)gGc>gAc	p.G44D	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	44					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	AAGGCCATTGCCCAGAAGCCC	0.507000													13	12					0	0	0.00244969	0	0
NCKAP5	344148	broad.mit.edu	37	2	133486512	133486512	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:133486512G>A	ENST00000409261.1	-	18	5830	c.5457C>T	c.(5455-5457)tcC>tcT	p.S1819S	NCKAP5_ENST00000409213.1_Silent_p.S500S|NCKAP5_ENST00000317721.6_Silent_p.S1819S|NCKAP5_ENST00000405974.3_Silent_p.S500S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1819							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCTGCTTTTGGGAACTGACTT	0.478000													84	155					0	0	0.000781405	0	0
NLRP13	126204	broad.mit.edu	37	19	56443625	56443625	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:56443625A>C	ENST00000588751.1	-	1	77	c.53T>G	c.(52-54)cTg>cGg	p.L18R	NLRP13_ENST00000342929.3_Missense_Mutation_p.L18R			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	18	DAPIN.						ATP binding			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)		CAGGTAAGGCAGAAGCCCTTG	0.532000													10	25					0	0	0.00136819	0	0
SMG7	9887	broad.mit.edu	37	1	183502837	183502837	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:183502837T>C	ENST00000367537.3	+	11	1315	c.1120T>C	c.(1120-1122)Tgt>Cgt	p.C374R	SMG7_ENST00000347615.2_Missense_Mutation_p.C345R|SMG7_ENST00000515829.2_Missense_Mutation_p.C345R|SMG7_ENST00000508461.1_Missense_Mutation_p.C303R|SMG7_ENST00000507469.1_Missense_Mutation_p.C345R|SMG7_ENST00000456731.2_Missense_Mutation_p.C303R			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	345					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CCTGTGCAAGTGTCCTCTACA	0.413000													17	41					0	0	0.000566183	0	0
ATIC	471	broad.mit.edu	37	2	216213859	216213859	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:216213859C>T	ENST00000435675.1	+	14	1934	c.1543C>T	c.(1543-1545)Cct>Tct	p.P515S	ATIC_ENST00000236959.9_Missense_Mutation_p.P516S|ATIC_ENST00000540518.1_Missense_Mutation_p.P457S			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	516					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	TGAGGAAGTCCCTGAGTTACT	0.448000			T	ALK	ALCL								43	47					0	0	0.000781405	0	0
C1GALT1C1	29071	broad.mit.edu	37	X	119760911	119760911	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:119760911G>A	ENST00000304661.5	-	2	349	c.111C>T	c.(109-111)caC>caT	p.H37H	C1GALT1C1_ENST00000371313.2_Silent_p.H37H	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	37						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						GCTCATGGTGGTGCATTCTAT	0.418000													53	28					0	0	0.000781405	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862898	10862898	+	RNA	SNP	A	A	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr21:10862898A>C	ENST00000559480.1	+	0	194																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CAAGGGCTTGAGTGGATGGGA	0.557000													18	77					0	0	0.00152264	0	0
MYO16	23026	broad.mit.edu	37	13	109817396	109817396	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr13:109817396C>T	ENST00000356711.2	+	33	5372	c.5246C>T	c.(5245-5247)tCc>tTc	p.S1749F	MYO16_ENST00000357550.2_Missense_Mutation_p.S1749F|MYO16-AS1_ENST00000439299.1_RNA	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1749					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AATGGAAATTCCATCTCAAAT	0.323000													25	17					0	0	0.000878237	0	0
MUC5B	727897	broad.mit.edu	37	11	1265002	1265002	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:1265002C>T	ENST00000447027.1	+	31	6959	c.6901C>T	c.(6901-6903)Ccc>Tcc	p.P2301S	MUC5B_ENST00000529681.1_Missense_Mutation_p.P2298S|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2298	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACCCTGCTGCCCAGCAGCCC	0.682000													12	42					0	0	0.00185496	0	0
EPHB2	2048	broad.mit.edu	37	1	23208887	23208887	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:23208887C>T	ENST00000400191.3	+	6	1357	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000544305.1_Missense_Mutation_p.R447C|EPHB2_ENST00000374632.3_Missense_Mutation_p.R447C|EPHB2_ENST00000374630.3_Missense_Mutation_p.R447C|EPHB2_ENST00000374627.1_Missense_Mutation_p.R441C	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	447	Fibronectin type-III 2.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TCAGGTGAGCCGCACCGTGGA	0.587000													9	40					0	0	0.000442599	0	0
GPR158	57512	broad.mit.edu	37	10	25886856	25886856	+	Silent	SNP	G	G	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:25886856G>C	ENST00000376351.3	+	11	2660	c.2301G>C	c.(2299-2301)cgG>cgC	p.R767R	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	767						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						CAGTCAGCCGGCAGTGCTCTA	0.572000													39	15					0	0	0.000953801	0	0
ARHGAP6	395	broad.mit.edu	37	X	11174717	11174717	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:11174717C>T	ENST00000337414.4	-	10	2711	c.1839G>A	c.(1837-1839)ctG>ctA	p.L613L	ARHGAP6_ENST00000380736.1_Silent_p.L410L|ARHGAP6_ENST00000303025.6_Silent_p.L410L|ARHGAP6_ENST00000413512.3_Silent_p.L422L|ARHGAP6_ENST00000380718.1_Silent_p.L613L|ARHGAP6_ENST00000380732.3_Silent_p.L645L|ARHGAP6_ENST00000534860.1_Silent_p.L438L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	613					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ACAGGCTGATCAGCACTTCGT	0.448000													20	4					0	0	0.00278032	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825806	146825806	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:146825806T>G	ENST00000361727.3	+	7	1477	c.961T>G	c.(961-963)Ttc>Gtc	p.F321V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	321	Laminin G-like 1.				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			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)			AGGCATCCCTTTCTCTGGCAA	0.393000										HNSCC(39;0.1)			16	62					0	0	0.000422831	0	0
FBXO40	51725	broad.mit.edu	37	3	121340659	121340659	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:121340659C>T	ENST00000338040.4	+	3	797	c.383C>T	c.(382-384)gCc>gTc	p.A128V		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	128					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TTGGACACAGCCCTGGCCCTG	0.498000													17	21					0	0	0.000422831	0	0
AQR	9716	broad.mit.edu	37	15	35202393	35202393	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:35202393G>A	ENST00000156471.5	-	17	1831	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	536						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ACATCTGCACGAACTCGGGTT	0.448000													30	74					0	0	0.00209593	0	0
ANK2	287	broad.mit.edu	37	4	114294517	114294517	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:114294517C>T	ENST00000357077.4	+	45	11824	c.11771C>T	c.(11770-11772)cCa>cTa	p.P3924L	ANK2_ENST00000510275.2_Missense_Mutation_p.P522L|ANK2_ENST00000506722.1_Missense_Mutation_p.P1830L|ANK2_ENST00000509550.1_Missense_Mutation_p.P1015L|ANK2_ENST00000264366.6_Missense_Mutation_p.P3891L|ANK2_ENST00000394537.3_Missense_Mutation_p.P1839L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3891					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGGGAATGCCACAGGAACCT	0.433000													45	23					0	0	0.000680045	0	0
MTHFSD	64779	broad.mit.edu	37	16	86565627	86565627	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:86565627C>T	ENST00000322911.6	-	8	1189	c.1139G>A	c.(1138-1140)aGg>aAg	p.R380K	MTHFSD_ENST00000546093.1_Missense_Mutation_p.R218K|MTHFSD_ENST00000381214.5_Missense_Mutation_p.R381K|MTHFSD_ENST00000543303.2_Missense_Mutation_p.R380K|MTHFSD_ENST00000360900.6_Missense_Mutation_p.R381K	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	381					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						TCACTTGTCCCTCTGCTGCCT	0.697000													5	0					0	0	0.00116845	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786624	19786624	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:19786624C>T	ENST00000341998.2	-	1	302	c.241G>A	c.(241-243)Ggt>Agt	p.G81S	SLC24A2_ENST00000286344.3_Missense_Mutation_p.G81S	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	81					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TGATGGTAACCCTGTGCTACC	0.448000													26	42					0	0	0.000586117	0	0
PRKG2	5593	broad.mit.edu	37	4	82125817	82125817	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:82125817G>A	ENST00000395578.1	-	2	501	c.385C>T	c.(385-387)Cca>Tca	p.P129S	PRKG2_ENST00000264399.1_Missense_Mutation_p.P129S|PRKG2_ENST00000418486.2_Missense_Mutation_p.P129S			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	129					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CGGGTTGTTGGCTCAGCAGAC	0.507000													104	58					0	0	0.000781405	0	0
PIK3CD	5293	broad.mit.edu	37	1	9787030	9787030	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:9787030G>A	ENST00000536656.1	+	24	3341	c.3133G>A	c.(3133-3135)Gaa>Aaa	p.E1045K	PIK3CD_ENST00000361110.2_Missense_Mutation_p.E1045K|PIK3CD_ENST00000377346.4_Missense_Mutation_p.E1021K			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	1021					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GAAGTTTAACGAAGCCCTCCG	0.567000													20	19					0	0	0.00152264	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559298	140559298	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140559298C>T	ENST00000239444.2	+	1	1928	c.1683C>T	c.(1681-1683)ttC>ttT	p.F561F		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		561	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGCTGTACC	0.711000													17	47					0	0	0.00229938	0	0
DNAH8	1769	broad.mit.edu	37	6	38754570	38754570	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:38754570C>T	ENST00000359357.3	+	16	2028	c.1774C>T	c.(1774-1776)Cca>Tca	p.P592S	DNAH8_ENST00000449981.2_Missense_Mutation_p.P809S|DNAH8_ENST00000441566.1_Missense_Mutation_p.P592S					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTGCGACATCCAGAAACAGG	0.358000													7	35					0	0	0.000157383	0	0
NPAS3	64067	broad.mit.edu	37	14	34266709	34266709	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:34266709C>G	ENST00000346562.2	+	10	1326	c.1252C>G	c.(1252-1254)Cat>Gat	p.H418D	NPAS3_ENST00000551492.1_Missense_Mutation_p.H455D|NPAS3_ENST00000356141.4_Missense_Mutation_p.H450D|NPAS3_ENST00000357798.5_Missense_Mutation_p.H437D|NPAS3_ENST00000548645.1_Missense_Mutation_p.H420D	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	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			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)		ACAGCTCCCCCATCTGCCGGA	0.507000													13	40					0	0	0.00244969	0	0
CACNA1S	779	broad.mit.edu	37	1	201052399	201052399	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:201052399G>A	ENST00000362061.3	-	10	1510	c.1284C>T	c.(1282-1284)atC>atT	p.I428I	CACNA1S_ENST00000367338.3_Silent_p.I428I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	428					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGACTTCACGATGTCATGGC	0.562000													31	44					0	0	0.00283554	0	0
PLB1	151056	broad.mit.edu	37	2	28719005	28719005	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:28719005C>T	ENST00000422425.2	+	1	68	c.24C>T	c.(22-24)ttC>ttT	p.F8F	PLB1_ENST00000327757.5_Silent_p.F8F	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	8					lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			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)					CAGGCATTTTCCTCCTGGAGC	0.597000													23	44					0	0	0.000878237	0	0
RP1	6101	broad.mit.edu	37	8	55540771	55540771	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:55540771G>A	ENST00000220676.1	+	4	4477	c.4329G>A	c.(4327-4329)cgG>cgA	p.R1443R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1443					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			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)			AAGAACCACGGACTTCTGAAG	0.343000													21	22					0	0	0.00188189	0	0
CSMD2	114784	broad.mit.edu	37	1	34189828	34189828	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:34189828G>A	ENST00000373381.4	-	19	3146	c.2970C>T	c.(2968-2970)tgC>tgT	p.C990C		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	950	CUB 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TAATCCAGGTGCAGTTCAAGT	0.527000													10	68					0	0	0.000978159	0	0
AGAP11	119385	broad.mit.edu	37	10	88769290	88769290	+	RNA	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:88769290G>A	ENST00000444431.1	+	0	3890				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GGGAAGAGAAGGAACGGTGGA	0.562000													59	19					0	0	0.000781405	0	0
DMXL1	1657	broad.mit.edu	37	5	118576136	118576136	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:118576136C>T	ENST00000311085.8	+	41	8691	c.8611C>T	c.(8611-8613)Ctt>Ttt	p.L2871F	DMXL1_ENST00000539542.1_Missense_Mutation_p.L2892F|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2871										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTGGGATACTCTTGTAGCACC	0.289000													42	43					0	0	0.000781405	0	0
ATG2A	23130	broad.mit.edu	37	11	64677197	64677197	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:64677197G>A	ENST00000421419.2	-	14	2177	c.2063C>T	c.(2062-2064)cCc>cTc	p.P688L	ATG2A_ENST00000377264.3_Missense_Mutation_p.P688L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	688							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGGGACTGGGGGACCAGGCCC	0.667000													5	23					0	0	0.00116845	0	0
RYR3	6263	broad.mit.edu	37	15	33842517	33842517	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:33842517G>A	ENST00000389232.4	+	10	1042	c.972_splice	c.e10+1	p.K324_splice	RYR3_ENST00000415757.3_Splice_Site_p.K324_splice	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	324	MIR 4.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			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)		GGGCATCAAAGGTAAGGTGTG	0.468000													6	10					0	0	0.00116845	0	0
DTD2	112487	broad.mit.edu	37	14	31926593	31926593	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:31926593C>T	ENST00000310850.4	-	1	123	c.7G>A	c.(7-9)Gag>Aag	p.E3K	DTD2_ENST00000356180.4_Missense_Mutation_p.E3K|RP11-176H8.1_ENST00000547378.1_Missense_Mutation_p.E3K	NM_080664.2	NP_542395.1			D-tyrosyl-tRNA deacylase 2 (putative)																		CGGCTACCCTCAGCCATGGCT	0.706000													4	4					0	0	0.00024832	0	0
SEZ6L	23544	broad.mit.edu	37	22	26743711	26743711	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:26743711G>A	ENST00000529632.2	+	11	2435	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N	SEZ6L_ENST00000360929.3_Missense_Mutation_p.D747N|SEZ6L_ENST00000248933.6_Missense_Mutation_p.D747N|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000343706.4_Missense_Mutation_p.D747N|SEZ6L_ENST00000403121.1_Missense_Mutation_p.D520N|SEZ6L_ENST00000404234.3_Missense_Mutation_p.D747N|SEZ6L_ENST00000402979.1_Missense_Mutation_p.D520N	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	747	Sushi 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTCCTGCTCGGATTTACCCGA	0.512000													46	8					0	0	0.000781405	0	0
IQCA1	79781	broad.mit.edu	37	2	237276886	237276886	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:237276886G>A	ENST00000409907.3	-	14	1894	c.1620C>T	c.(1618-1620)tcC>tcT	p.S540S	IQCA1_ENST00000431676.2_Silent_p.S499S|IQCA1_ENST00000309507.5_Silent_p.S537S|RP11-785G17.1_ENST00000605740.1_RNA			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	540							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CATCCAGGAGGGAGGGCATGG	0.517000													4	7					0	0	0.000602214	0	0
LRRC66	339977	broad.mit.edu	37	4	52861333	52861333	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:52861333C>T	ENST00000343457.3	-	4	1861	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	619						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTAGAAAATTCCATCTGCGAG	0.502000													33	12					0	0	0.00058488	0	0
GFRAL	389400	broad.mit.edu	37	6	55216236	55216236	+	Silent	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:55216236T>C	ENST00000340465.2	+	5	642	c.556T>C	c.(556-558)Ttg>Ctg	p.L186L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	186						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGCCCAGATGTTGGCTTTTTG	0.438000													38	49					0	0	0.00148497	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120229	46120229	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:46120229C>T	ENST00000355105.3	-	6	1823	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.E155K	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TCCTCCTCTTCAAACTGCAAC	0.408000													26	70					0	0	0.00127121	0	0
OR7D2	162998	broad.mit.edu	37	19	9296779	9296779	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:9296779C>T	ENST00000344248.2	+	1	501	c.322C>T	c.(322-324)Cct>Tct	p.P108S		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	108					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CATGTTTTTTCCTATTCTGGA	0.512000													22	84					0	0	0.000720815	0	0
CDHR3	222256	broad.mit.edu	37	7	105645017	105645017	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:105645017C>T	ENST00000542731.1	+	8	1044	c.936C>T	c.(934-936)tcC>tcT	p.S312S	CDHR3_ENST00000541203.1_3'UTR|CDHR3_ENST00000478080.1_Silent_p.S224S|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000343407.5_Silent_p.S29S|CDHR3_ENST00000317716.9_Silent_p.S312S			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	312	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCACCATTTCCCTGGAAGTTC	0.483000													14	15					0	0	0.000308642	0	0
C9	735	broad.mit.edu	37	5	39308393	39308393	+	Silent	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:39308393T>C	ENST00000263408.4	-	8	1274	c.1179A>G	c.(1177-1179)gaA>gaG	p.E393E		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	393	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CAACAGAGATTTCAGAGAAAG	0.358000													13	86					0	0	0.00136819	0	0
CLIP2	7461	broad.mit.edu	37	7	73791003	73791003	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:73791003C>T	ENST00000223398.6	+	10	2599	c.2272C>T	c.(2272-2274)Ctg>Ttg	p.L758L	CLIP2_ENST00000361545.5_Silent_p.L723L|CLIP2_ENST00000395060.1_Silent_p.L758L	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	758						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCAGATCTCGCTGGCCGAGAA	0.627000													12	38					0	0	0.00185496	0	0
C12orf50	160419	broad.mit.edu	37	12	88381713	88381713	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:88381713G>A	ENST00000298699.2	-	9	911	c.731C>T	c.(730-732)tCc>tTc	p.S244F	C12orf50_ENST00000550553.1_Intron	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	244										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GGTAGTTAGGGAATGCTTTGG	0.343000													19	30					0	0	0.00278032	0	0
IL12RB1	3594	broad.mit.edu	37	19	18177379	18177379	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:18177379G>A	ENST00000600835.1	-	13	1759	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	IL12RB1_ENST00000430026.2_Nonsense_Mutation_p.R486*|IL12RB1_ENST00000593993.1_Nonsense_Mutation_p.R486*			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	486	Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TCTTCATCTCGGCAGCGGACA	0.567000													18	32					0	0	0.000958276	0	0
POU2F2	5452	broad.mit.edu	37	19	42603707	42603707	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:42603707G>A	ENST00000389341.5	-	7	539	c.473C>T	c.(472-474)tCc>tTc	p.S158F	POU2F2_ENST00000529067.1_Missense_Mutation_p.S158F|POU2F2_ENST00000560398.1_Missense_Mutation_p.S180F|POU2F2_ENST00000529952.1_Missense_Mutation_p.S158F|POU2F2_ENST00000526816.2_Missense_Mutation_p.S158F|POU2F2_ENST00000560558.1_Missense_Mutation_p.S119F|POU2F2_ENST00000342301.4_Missense_Mutation_p.S158F|POU2F2_ENST00000533720.1_Missense_Mutation_p.S158F	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	158					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CCGGGGCTGGGAGGTCAGAAG	0.602000													9	24					0	0	0.000978159	0	0
OR4K1	79544	broad.mit.edu	37	14	20404103	20404103	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:20404103C>T	ENST00000285600.4	+	1	337	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAGACTATCTCCTTTGAGGGT	0.403000													20	118					0	0	0.00188189	0	0
LILRA6	79168	broad.mit.edu	37	19	54746055	54746055	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:54746055G>A	ENST00000440558.2	-	3	250	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S	LILRA6_ENST00000270464.5_Missense_Mutation_p.P68S|LILRA6_ENST00000245621.5_Missense_Mutation_p.P68S|LILRB3_ENST00000407860.2_Missense_Mutation_p.P68S|LILRA6_ENST00000396365.2_Missense_Mutation_p.P68S|LILRA6_ENST00000419410.2_Missense_Mutation_p.P68S|LILRA6_ENST00000391735.3_Missense_Mutation_p.P68S					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTCCAAGGGCTCTGGGCTT	0.572000													7	169					0	0	0.00185496	0	0
CRTC2	200186	broad.mit.edu	37	1	153923935	153923935	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:153923935G>A	ENST00000368633.1	-	11	1332	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	CRTC2_ENST00000368630.3_Missense_Mutation_p.S82F	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	402	Ser-rich.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	p.S402F(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ggaggaggaggaagaggagga	0.677000													7	8					0	0	0.00198382	0	0
FSD1	79187	broad.mit.edu	37	19	4317268	4317268	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:4317268G>A	ENST00000221856.6	+	8	937	c.790G>A	c.(790-792)Gag>Aag	p.E264K	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.E264K	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	264	Fibronectin type-III.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGACTCTGGAGACACCAGG	0.537000													23	30					0	0	0.00047179	0	0
LRRN3	54674	broad.mit.edu	37	7	110763912	110763912	+	Missense_Mutation	SNP	G	G	A	rs145461505		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:110763912G>A	ENST00000451085.1	+	4	2130	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	LRRN3_ENST00000308478.5_Missense_Mutation_p.E362K|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.E362K|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	362						integral to membrane		p.E362K(2)		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)		AAACCTCAAGGAAATCAGCAT	0.463000													13	40					0	0	0.00185496	0	0
MYO15A	51168	broad.mit.edu	37	17	18023226	18023226	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:18023226C>T	ENST00000205890.5	+	2	1450	c.1112C>T	c.(1111-1113)cCc>cTc	p.P371L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	371	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TACTTTGATCCCTACGGAGTC	0.592000													14	37					0	0	0.00185496	0	0
TMEM120B	144404	broad.mit.edu	37	12	122209433	122209433	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:122209433C>T	ENST00000449592.2	+	8	758	c.657C>T	c.(655-657)ttC>ttT	p.F219F	TMEM120B_ENST00000540377.1_Intron	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	219						integral to membrane				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)		GCAACCAGTTCTTAGCATTTT	0.483000													28	26					0	0	0.001512	0	0
SLC29A4	222962	broad.mit.edu	37	7	5331406	5331406	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:5331406C>T	ENST00000406453.3	+	5	523	c.461C>T	c.(460-462)aCg>aTg	p.T154M	SLC29A4_ENST00000396872.2_Silent_p.Y166Y|SLC29A4_ENST00000297195.4_Silent_p.Y166Y			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	164					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		ACCAGGCCTACGCCATCAACC	0.637000													31	20					0	0	0.00128727	0	0
COQ4	51117	broad.mit.edu	37	9	131088065	131088065	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:131088065C>T	ENST00000300452.3	+	4	630	c.307C>T	c.(307-309)Ccc>Tcc	p.P103S	COQ4_ENST00000372875.3_Missense_Mutation_p.P103S	NM_016035.3	NP_057119.2	Q9Y3A0	COQ4_HUMAN	coenzyme Q4	103					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						CAGGGAGCGTCCCCGGATTTC	0.597000													7	24					0	0	0.000274275	0	0
TSGA10	80705	broad.mit.edu	37	2	99695239	99695239	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:99695239T>G	ENST00000393483.3	-	12	1609	c.765A>C	c.(763-765)gaA>gaC	p.E255D	TSGA10_ENST00000410001.1_Missense_Mutation_p.E255D|TSGA10_ENST00000355053.4_Missense_Mutation_p.E255D|TSGA10_ENST00000542655.1_Missense_Mutation_p.E255D|TSGA10_ENST00000539964.1_Missense_Mutation_p.E255D|TSGA10_ENST00000478090.1_Intron	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	255					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GAATGCTGATTTCTTCTCGCT	0.338000													6	46					0	0	0.00116845	0	0
BRINP2	57795	broad.mit.edu	37	1	177250484	177250484	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:177250484G>A	ENST00000361539.4	+	8	2484	c.2172G>A	c.(2170-2172)agG>agA	p.R724R	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		724						extracellular region				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						TTGAGCTCAGGGACCGGGTGA	0.537000													27	47					0	0	0.000878237	0	0
MYH13	8735	broad.mit.edu	37	17	10206725	10206725	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:10206725C>T	ENST00000418404.3	-	37	5720	c.5557G>A	c.(5557-5559)Gag>Aag	p.E1853K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1853K|MYH13_ENST00000570743.1_Missense_Mutation_p.E1853K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1853					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TAAGTCATCTCCTTGACTTTG	0.547000													36	30					0	0	0.000814825	0	0
OR2L8	391190	broad.mit.edu	37	1	248112159	248112159	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:248112159C>T	ENST00000357191.3	+	1	0		c.e1-1		OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			AGGAATGCTCCATGGAAAATT	0.413000													13	44					0	0	0.00244969	0	0
KRT74	121391	broad.mit.edu	37	12	52963665	52963665	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:52963665T>C	ENST00000549343.1	-	6	1150	c.1112A>G	c.(1111-1113)gAg>gGg	p.E371G	KRT74_ENST00000305620.2_Missense_Mutation_p.E371G			Q7RTS7	K2C74_HUMAN	keratin 74	371	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		ATTCCCGATCTCACACCGGAT	0.607000													17	23					0	0	0.000958276	0	0
SPTA1	6708	broad.mit.edu	37	1	158604457	158604457	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:158604457T>G	ENST00000368148.3	-	39	5621	c.5441A>C	c.(5440-5442)aAg>aCg	p.K1814T	SPTA1_ENST00000368147.3_Missense_Mutation_p.K1814T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1814					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			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)					TTCTTCCAACTTAAGTCCTCT	0.463000													11	43					0	0	0.000673444	0	0
GALNT12	79695	broad.mit.edu	37	9	101597641	101597641	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:101597641C>T	ENST00000375011.3	+	5	1028	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	343	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CTCGAATTTTCCTTTAGGGTA	0.423000													27	58					0	0	0.00209593	0	0
SETDB1	9869	broad.mit.edu	37	1	150921900	150921900	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:150921900C>T	ENST00000271640.5	+	12	1669	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S	SETDB1_ENST00000368969.4_Silent_p.S493S|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGAGCACGTCCTTTCGACCAG	0.498000													41	79					0	0	0.00285205	0	0
AGO1	26523	broad.mit.edu	37	1	36383199	36383199	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:36383199C>T	ENST00000373204.4	+	16	2247	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	AGO1_ENST00000373206.1_Silent_p.L603L	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		CCTAGATACTCCACTATGAGC	0.448000													37	110					0	0	0.00170553	0	0
SULT1E1	6783	broad.mit.edu	37	4	70710024	70710024	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:70710024G>A	ENST00000226444.3	-	7	739	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	209					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TCCTTTCCAGGAAATGTATCA	0.353000													40	24					0	0	0.00285205	0	0
NR2F6	2063	broad.mit.edu	37	19	17351502	17351502	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:17351502G>A	ENST00000291442.3	-	2	1070	c.351C>T	c.(349-351)ttC>ttT	p.F117F	AC010646.3_ENST00000594059.1_5'UTR	NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	117					negative 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|thyroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						TGCCCACCCGGAAGCACTTCT	0.627000													12	37					0	0	0.00244969	0	0
ZNF33A	7581	broad.mit.edu	37	10	38305931	38305931	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:38305931C>T	ENST00000374618.3	+	3	320	c.142C>T	c.(142-144)Ctt>Ttt	p.L48F	ZNF33A_ENST00000469037.2_Missense_Mutation_p.L48F|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000432900.2_Missense_Mutation_p.L55F|ZNF33A_ENST00000307441.9_Missense_Mutation_p.L48F|ZNF33A_ENST00000458705.2_Missense_Mutation_p.L48F	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	48	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CTACAGCAACCTTGTCTCAGT	0.438000													36	18					0	0	0.0025221	0	0
ACE	1636	broad.mit.edu	37	17	61568744	61568744	+	Splice_Site	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:61568744T>C	ENST00000577647.1	+	8	1235		c.e8+2		ACE_ENST00000413513.3_Splice_Site|ACE_ENST00000421982.2_Splice_Site|ACE_ENST00000428043.1_Splice_Site|ACE_ENST00000490216.2_Splice_Site|ACE_ENST00000290866.4_Splice_Site|ACE_ENST00000290863.6_Splice_Site			P12821	ACE_HUMAN	angiotensin I converting enzyme						arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGACTTCCGGTACATCCAGCT	0.612000													27	21					0	0	0.001512	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813339	24813339	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:24813339C>T	ENST00000376451.2	+	8	1853	c.1593C>T	c.(1591-1593)gtC>gtT	p.V531V	KIAA1217_ENST00000376454.3_Silent_p.V848V|KIAA1217_ENST00000458595.1_Silent_p.V813V|KIAA1217_ENST00000396445.1_Silent_p.V531V|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376462.1_Silent_p.V768V|KIAA1217_ENST00000307544.6_Silent_p.V531V|KIAA1217_ENST00000376452.3_Silent_p.V813V|KIAA1217_ENST00000396446.1_Silent_p.V531V			Q5T5P2	SKT_HUMAN	KIAA1217	848					embryonic skeletal system development	cytoplasm				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						CCGCAGAAGTCCTGAAGAGTC	0.607000													31	8					0	0	0.00178596	0	0
CCNJL	79616	broad.mit.edu	37	5	159680613	159680613	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:159680613G>A	ENST00000393977.3	-	7	1365	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S	CCNJL_ENST00000257536.7_Silent_p.S312S|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	360						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCCTGCAAGGAGTCCCGAT	0.657000													16	16					0	0	0.000422831	0	0
ZBED1	9189	broad.mit.edu	37	X	2407161	2407161	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:2407161G>A	ENST00000381223.4	-	2	1803	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W	ZBED1_ENST00000381218.3_Missense_Mutation_p.R534W|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.R534W	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	534						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTGGATGTCCGCATGAGCTTC	0.652000													13	6					0	0	0.000422831	0	0
B2M	567	broad.mit.edu	37	15	45003812	45003812	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:45003812G>A	ENST00000558401.1	+	1	137		c.e1+1		B2M_ENST00000559916.1_Splice_Site|B2M_ENST00000544417.1_Splice_Site	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.?(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCTATCCAGCGTGAGTCTCTC	0.617000													8	12					0	0	0.000274275	0	0
OAS3	4940	broad.mit.edu	37	12	113400697	113400697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:113400697C>T	ENST00000228928.7	+	9	2253	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	692	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGGCCAGCTTCGAAAACCCAG	0.567000													31	108					0	0	0.000814825	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229697	140229697	+	Missense_Mutation	SNP	C	C	G	rs141845549		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140229697C>G	ENST00000378122.3	+	1	2341	c.1617C>G	c.(1615-1617)gaC>gaG	p.D539E	PCDHA9_ENST00000532602.1_Missense_Mutation_p.D539E|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGCGACGCGGGCGTGC	0.672000													44	48					0	0	0.000781405	0	0
MUC15	143662	broad.mit.edu	37	11	26586936	26586936	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:26586936G>A	ENST00000436318.2	-	2	684	c.551C>T	c.(550-552)aCc>aTc	p.T184I	ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.T184I|MUC15_ENST00000529533.1_Missense_Mutation_p.T184I|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.T157I|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.T184I			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	157			I -> T (in dbSNP:rs2292290).			extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AGTTTTCACGGTGTCATTGAC	0.458000													15	37					0	0	0.000308642	0	0
MAP2	4133	broad.mit.edu	37	2	210560314	210560314	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:210560314C>T	ENST00000360351.4	+	7	3926	c.3420C>T	c.(3418-3420)ctC>ctT	p.L1140L	MAP2_ENST00000447185.1_Silent_p.L1136L|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1140					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATGAAAGTCTCACCATGGAGT	0.463000													23	14					0	0	0.00047179	0	0
PTPN21	11099	broad.mit.edu	37	14	88945372	88945372	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:88945372G>A	ENST00000556564.1	-	13	2687	c.2403C>T	c.(2401-2403)ctC>ctT	p.L801L	PTPN21_ENST00000328736.3_Silent_p.L801L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	801						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGACGTGGTGAGGTCGGACT	0.647000													10	16					0	0	0.000673444	0	0
ITGAL	3683	broad.mit.edu	37	16	30522415	30522415	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:30522415C>T	ENST00000356798.6	+	24	2924	c.2744C>T	c.(2743-2745)aCc>aTc	p.T915I	ITGAL_ENST00000358164.5_Missense_Mutation_p.T831I|ITGAL_ENST00000433423.2_Missense_Mutation_p.T149I	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	915					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.T915I(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TCAGCCACTACCATCATCCCC	0.567000													31	35					0	0	0.00058488	0	0
RP3-462D8.2	0	broad.mit.edu	37	22	25679005	25679005	+	RNA	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:25679005C>T	ENST00000444383.1	-	0	56																											GCAAGAGGACCGTCCTGCCCG	0.721000													5	3					0	0	0.00116845	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70940196	70940196	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:70940196C>T	ENST00000359655.4	+	1	209	c.149C>T	c.(148-150)tCc>tTc	p.S50F	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	50					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCGCCTCCTCCTCTGCCTCC	0.657000													34	9					0	0	0.000953801	0	0
UROC1	131669	broad.mit.edu	37	3	126226832	126226832	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:126226832C>T	ENST00000290868.2	-	5	571	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	UROC1_ENST00000383579.3_Missense_Mutation_p.R173Q	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	173					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GATGACGAGCCGTGGGGCACT	0.592000													21	29					0	0	0.00188189	0	0
SHC1	6464	broad.mit.edu	37	1	154941262	154941262	+	Silent	SNP	C	C	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:154941262C>A	ENST00000448116.2	-	3	835	c.615G>T	c.(613-615)gcG>gcT	p.A205A	SHC1_ENST00000368453.4_Silent_p.A95A|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368445.5_Silent_p.A205A|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368450.1_Silent_p.A95A	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	205	PID.		A -> V (in dbSNP:rs8191981).		activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	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)			TCCTCCTTGTCGCCCCCTTAG	0.637000													38	42					2.01872e-29	8.54244e-29	0.000781405	1	0
SNRNP40	9410	broad.mit.edu	37	1	31744311	31744311	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:31744311G>A	ENST00000263694.4	-	6	708	c.690C>T	c.(688-690)acC>acT	p.T230T	SNRNP40_ENST00000446633.2_Silent_p.T230T|SNRNP40_ENST00000489853.1_5'UTR	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	230						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						GGCCTCTCATGGTGTAGGTTA	0.438000													59	45					0	0	0.000781405	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256014	140256014	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140256014G>A	ENST00000398631.2	+	1	957	c.957G>A	c.(955-957)caG>caA	p.Q319Q	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAAATTCAGGTTAACGCCA	0.398000													39	37					0	0	0.00128727	0	0
PXT1	222659	broad.mit.edu	37	6	36368262	36368262	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:36368262C>T	ENST00000454782.2	-	4	752	c.269G>A	c.(268-270)gGg>gAg	p.G90E		NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	7						peroxisome											AATGTTGTCCCCAATGTGTCT	0.488000													19	82					0	0	0.00121646	0	0
NPVF	64111	broad.mit.edu	37	7	25266264	25266264	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:25266264G>A	ENST00000222674.2	-	2	566	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S		NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	174					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TTTTGATCGGGATTCTGGATT	0.413000													19	95					0	0	0.00188189	0	0
ALMS1	7840	broad.mit.edu	37	2	73784358	73784358	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:73784358C>T	ENST00000264448.6	+	14	10198	c.10087C>T	c.(10087-10089)Caa>Taa	p.Q3363*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Q3321*	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3363					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGCCTCAGTTCAAGTGCTAAT	0.413000													26	37					0	0	0.000720815	0	0
ZNF609	23060	broad.mit.edu	37	15	64970588	64970588	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:64970588C>T	ENST00000326648.3	+	5	3804	c.3676C>T	c.(3676-3678)Ccc>Tcc	p.P1226S		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1226						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCCTACATCCCCTACATGCA	0.602000													14	41					0	0	0.00074312	0	0
ATR	545	broad.mit.edu	37	3	142215245	142215245	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:142215245G>A	ENST00000350721.4	-	34	5977	c.5856C>T	c.(5854-5856)ctC>ctT	p.L1952L	ATR_ENST00000383101.3_Silent_p.L1888L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1952	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACAGTTCAGCGAGTCGTGATT	0.443000								Other conserved DNA damage response genes					23	18					0	0	0.00178596	0	0
GPR137B	7107	broad.mit.edu	37	1	236343179	236343179	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:236343179G>A	ENST00000366592.3	+	4	779	c.687_splice	c.e4-1	p.G230_splice	GPR137B_ENST00000366591.4_Splice_Site_p.G139_splice	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	230						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TCTTTTCCAGGGCTCCTCCGT	0.552000													15	58					0	0	0.00074312	0	0
CD163	9332	broad.mit.edu	37	12	7635291	7635291	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:7635291G>A	ENST00000359156.4	-	14	3397	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	CD163_ENST00000432237.2_Silent_p.F1065F|CD163_ENST00000396620.3_Silent_p.F1098F|CD163_ENST00000541972.1_Silent_p.F1053F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1065					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATAATGCGACGAAAATGGCCA	0.423000													53	58					0	0	0.000781405	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182643	140182643	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140182643C>T	ENST00000522353.2	+	1	1861	c.1861C>T	c.(1861-1863)Ccg>Tcg	p.P621S	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P621S|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														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)			TGCGCGCATCCCGTTTCGCGT	0.667000													8	25					0	0	0.000442599	0	0
ZFAT	57623	broad.mit.edu	37	8	135521977	135521977	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:135521977G>A	ENST00000520727.1	-	16	3640	c.3341C>T	c.(3340-3342)cCc>cTc	p.P1114L	ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000523399.1_Missense_Mutation_p.P1064L|ZFAT_ENST00000377838.3_Missense_Mutation_p.P1126L|ZFAT_ENST00000520214.1_Missense_Mutation_p.P1114L|ZFAT_ENST00000429442.2_Missense_Mutation_p.P1114L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CACGGCCGTGGGGTCCAGTCG	0.592000													24	54					0	0	0.000878237	0	0
GJA5	2702	broad.mit.edu	37	1	147230938	147230938	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:147230938C>T	ENST00000271348.2	-	2	570	c.409G>A	c.(409-411)Gag>Aag	p.E137K	GJA5_ENST00000369237.1_Missense_Mutation_p.E137K	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	137					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TTCCCTTCCTCCCAGCAGGAC	0.607000													16	44					0	0	0.000308642	0	0
PCLO	27445	broad.mit.edu	37	7	82583366	82583366	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:82583366C>T	ENST00000423517.2	-	5	7240	c.6903G>A	c.(6901-6903)gtG>gtA	p.V2301V	PCLO_ENST00000333891.8_Silent_p.V2301V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2232					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			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						TGGCTTTCTTCACTGGGTCCT	0.408000													22	131					0	0	0.00278032	0	0
FAM135B	51059	broad.mit.edu	37	8	139163712	139163712	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:139163712C>T	ENST00000395297.1	-	13	3176	c.3006G>A	c.(3004-3006)gaG>gaA	p.E1002E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1002										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGCCTTCAGCTCTTGGTTTT	0.507000										HNSCC(54;0.14)			15	39					0	0	0.00244969	0	0
CLDN10	9071	broad.mit.edu	37	13	96230203	96230203	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr13:96230203C>T	ENST00000376873.3	+	5	846	c.616C>T	c.(616-618)Cat>Tat	p.H206Y	CLDN10_ENST00000299339.2_Missense_Mutation_p.H208Y	NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	208					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GACAAAGTATCATGGTGGAGA	0.388000													18	27					0	0	0.00152264	0	0
PRUNE2	158471	broad.mit.edu	37	9	79267526	79267526	+	Silent	SNP	A	A	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:79267526A>T	ENST00000428286.1	-	11	8553	c.7353T>A	c.(7351-7353)ctT>ctA	p.L2451L	PRUNE2_ENST00000443509.2_Silent_p.L59L|PRUNE2_ENST00000376718.3_Silent_p.L2810L|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000223609.6_Silent_p.L74L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2810					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGTCCAGAGAAAGATTGATAT	0.413000													57	107					0	0	0.000781405	0	0
OR5D13	390142	broad.mit.edu	37	11	55541419	55541419	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:55541419C>T	ENST00000361760.1	+	1	506	c.506C>T	c.(505-507)tCg>tTg	p.S169L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTTGACTTATCGTTTTGTGAA	0.418000													20	41					0	0	0.000958276	0	0
NLRP14	338323	broad.mit.edu	37	11	7064042	7064042	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:7064042A>T	ENST00000299481.4	+	4	1131	c.785A>T	c.(784-786)gAt>gTt	p.D262V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	262	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GACAGTTTCGATGAACTGAAC	0.448000													7	50					0	0	0.00198382	0	0
PPP4R4	57718	broad.mit.edu	37	14	94700961	94700961	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:94700961G>A	ENST00000304338.3	+	7	840	c.686G>A	c.(685-687)cGa>cAa	p.R229Q		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	229						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TATGAAGTTCGATCTTGTATG	0.388000													9	16					0	0	0.000978159	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563504	140563504	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140563504C>T	ENST00000361016.2	+	1	2525	c.1370C>T	c.(1369-1371)aCc>aTc	p.T457I		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		457	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTCCTACACCCTGTTCGTC	0.562000													32	40					0	0	0.000692331	0	0
POM121L12	285877	broad.mit.edu	37	7	53104126	53104126	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:53104126C>T	ENST00000408890.4	+	1	778	c.762C>T	c.(760-762)tcC>tcT	p.S254S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	254								p.S254S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTTGGCCTTCCGTGCTGGTCC	0.637000													26	19					0	0	0.000878237	0	0
NLRP7	199713	broad.mit.edu	37	19	55447766	55447766	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:55447766C>T	ENST00000446217.1	-	8	2649	c.2247G>A	c.(2245-2247)cgG>cgA	p.R749R	NLRP7_ENST00000328092.5_Silent_p.R693R|NLRP7_ENST00000448121.2_Silent_p.R693R|NLRP7_ENST00000592784.1_Silent_p.R721R|NLRP7_ENST00000590030.1_Silent_p.R721R|NLRP7_ENST00000588756.1_Silent_p.R721R|NLRP7_ENST00000340844.2_Silent_p.R721R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	721							ATP binding			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)		GACAGAAGTCCCGGTACGCGG	0.507000													39	34					0	0	0.00195071	0	0
SNAPC4	6621	broad.mit.edu	37	9	139272358	139272358	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:139272358G>A	ENST00000298532.2	-	21	4289	c.3921C>T	c.(3919-3921)gcC>gcT	p.A1307A		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	1307	SNAPC2-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGCTGCACAGGGCTGGGGGCT	0.706000													12	26					0	0	0.00136819	0	0
FOLH1	2346	broad.mit.edu	37	11	49196493	49196493	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:49196493C>T	ENST00000340334.7	-	10	1379	c.1011G>A	c.(1009-1011)gtG>gtA	p.V337V	FOLH1_ENST00000356696.3_Silent_p.V352V|FOLH1_ENST00000533034.1_Silent_p.V337V|FOLH1_ENST00000256999.2_Silent_p.V352V|FOLH1_ENST00000343844.4_Silent_p.V44V|FOLH1_ENST00000525629.1_5'UTR	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	352	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AAATTCTTGTCACTTCATTGG	0.338000													5	24					0	0	0.000602214	0	0
NUP210	23225	broad.mit.edu	37	3	13438860	13438860	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:13438860C>T	ENST00000254508.5	-	3	515	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	145					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTCTCACCTTCGGAGTCCAGG	0.592000													12	15					0	0	0.000308642	0	0
IL7R	3575	broad.mit.edu	37	5	35871189	35871189	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:35871189C>T	ENST00000303115.3	+	4	540	c.411C>T	c.(409-411)gtC>gtT	p.V137V	IL7R_ENST00000506850.1_Silent_p.V137V|IL7R_ENST00000343305.4_Silent_p.V137V	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	137	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACCTGAGTGTCGTCTATCGGG	0.368000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						15	93					0	0	0.000566183	0	0
CARD11	84433	broad.mit.edu	37	7	2949686	2949686	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:2949686G>A	ENST00000396946.4	-	24	3661	c.3258C>T	c.(3256-3258)ttC>ttT	p.F1086F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1086	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGCCCTACCTGAACCTCTTGA	0.592000			Mis		DLBCL								36	30					0	0	0.00148497	0	0
UBE2U	148581	broad.mit.edu	37	1	64698315	64698315	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:64698315A>G	ENST00000371077.4	+	7	1002	c.578A>G	c.(577-579)gAa>gGa	p.E193G	UBE2U_ENST00000371076.3_Missense_Mutation_p.E193G|UBE2U_ENST00000464349.1_3'UTR			Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	193							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						AAAGCCACAGAATACTACAGA	0.328000													18	66					0	0	0.000958276	0	0
ACVR1B	91	broad.mit.edu	37	12	52380764	52380764	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:52380764C>T	ENST00000415850.2	+	7	1299	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	ACVR1B_ENST00000542485.1_Intron|ACVR1B_ENST00000541224.1_Intron|ACVR1B_ENST00000426655.2_Intron|ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000257963.4_Intron			P36896	ACV1B_HUMAN	activin A receptor, type IB	0	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	ACCTCCCATTCCAGGATGCTG	0.468000													31	15					0	0	0.001512	0	0
PREP	5550	broad.mit.edu	37	6	105730374	105730374	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:105730374G>A	ENST00000369110.3	-	13	1825	c.1633C>T	c.(1633-1635)Ccc>Tcc	p.P545S		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	545					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	AGCCTCTTGGGAGATGTGTAA	0.438000													33	66					0	0	0.00283554	0	0
GSE1	23199	broad.mit.edu	37	16	85688528	85688528	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:85688528C>T	ENST00000253458.7	+	5	904	c.728C>T	c.(727-729)cCg>cTg	p.P243L	GSE1_ENST00000405402.2_Missense_Mutation_p.P139L|GSE1_ENST00000393243.1_Missense_Mutation_p.P170L	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		GGCCTGGACCCGGCCACTGCT	0.682000													5	11					0	0	0.00116845	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323836	79323836	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:79323836C>T	ENST00000428286.1	-	8	3477	c.2277G>A	c.(2275-2277)gtG>gtA	p.V759V	PRUNE2_ENST00000376718.3_Silent_p.V1118V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1118					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCTCCAAAATCACTCTGTTCC	0.517000													37	68					0	0	0.00170553	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918682	21918682	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:21918682C>T	ENST00000240662.2	-	3	1595	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	417						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GTTTTGATTTCCTTCTGGAGT	0.423000													36	46					0	0	0.00128727	0	0
NID1	4811	broad.mit.edu	37	1	236154255	236154255	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:236154255C>T	ENST00000264187.6	-	14	2941	c.2859G>A	c.(2857-2859)aaG>aaA	p.K953K	NID1_ENST00000366595.3_Silent_p.K820K	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	953					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGCGCTCAATCTTCCCAGTCT	0.572000													7	17					0	0	0.000157383	0	0
IL7	3574	broad.mit.edu	37	8	79710372	79710372	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:79710372C>T	ENST00000263851.4	-	2	682	c.82G>A	c.(82-84)Gat>Aat	p.D28N	IL7_ENST00000520269.1_Missense_Mutation_p.D28N|IL7_ENST00000379113.2_Missense_Mutation_p.D28N	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	28					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						CCTTCAATATCACAATCAGAT	0.343000													16	44					0	0	0.000308642	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140865237	140865237	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140865237C>T	ENST00000306593.1	+	1	497	c.497C>T	c.(496-498)tCg>tTg	p.S166L	PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCAATTCGATTAGCAGC	0.567000													20	20					0	0	0.00188189	0	0
PCNXL2	80003	broad.mit.edu	37	1	233225830	233225830	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:233225830C>T	ENST00000258229.8	-	23	4287	c.4053G>A	c.(4051-4053)gtG>gtA	p.V1351V		NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1351						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCCAGAATTTCACTGGCCTGA	0.423000													9	23					0	0	0.000978159	0	0
ABCA1	19	broad.mit.edu	37	9	107607828	107607828	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:107607828G>A	ENST00000374736.3	-	8	1137	c.743C>T	c.(742-744)cCc>cTc	p.P248L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	248			P -> A.		Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCTCGGGAAGGGAGATGTAGA	0.413000													18	32					0	0	0.000958276	0	0
STAT3	6774	broad.mit.edu	37	17	40485919	40485919	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:40485919A>T	ENST00000264657.5	-	9	1258	c.946T>A	c.(946-948)Tta>Ata	p.L316I	STAT3_ENST00000585517.1_Missense_Mutation_p.L316I|STAT3_ENST00000389272.3_Missense_Mutation_p.L218I|STAT3_ENST00000588969.1_Missense_Mutation_p.L316I|STAT3_ENST00000404395.3_Missense_Mutation_p.L316I	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	316					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTTTTCATTAAGTTTCTAAAC	0.468000									Hyperimmunoglobulin E Recurrent Infection Syndrome				27	14					0	0	0.00106085	0	0
DNAJC15	29103	broad.mit.edu	37	13	43652761	43652761	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr13:43652761A>G	ENST00000379221.2	+	4	672	c.248A>G	c.(247-249)tAc>tGc	p.Y83C	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	83						integral to membrane	heat shock protein binding			endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		TTTTCATCCTACTATAAAGGA	0.408000													5	20					0	0	0.000602214	0	0
FOXRED2	80020	broad.mit.edu	37	22	36892219	36892219	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:36892219G>A	ENST00000397224.4	-	7	1512	c.1419C>T	c.(1417-1419)ccC>ccT	p.P473P	FOXRED2_ENST00000366463.3_Silent_p.P25P|FOXRED2_ENST00000216187.6_Silent_p.P473P|FOXRED2_ENST00000397223.4_Silent_p.P473P	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	473					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCATCTGTATGGGGAACTCCT	0.597000													51	12					0	0	0.000781405	0	0
GLUD1P7	414212	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													3	8					0	0	6.4e-05	0	0
ZAN	7455	broad.mit.edu	37	7	100350390	100350390	+	RNA	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:100350390C>T	ENST00000542585.1	+	0	2810				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCCCCATTGAAGA	0.502000													7	32					0	0	0.000157383	0	0
SLC35F4	341880	broad.mit.edu	37	14	58048095	58048095	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:58048095C>T	ENST00000556826.1	-	4	880	c.644G>A	c.(643-645)aGa>aAa	p.R215K	SLC35F4_ENST00000554729.1_Missense_Mutation_p.R92K|SLC35F4_ENST00000339762.6_Missense_Mutation_p.R251K	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGAGCAGTTCTTTTAAGAAA	0.413000													5	9					0	0	0.000157383	0	0
MUC16	94025	broad.mit.edu	37	19	9048458	9048458	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:9048458G>A	ENST00000397910.4	-	5	33376	c.33173C>T	c.(33172-33174)cCa>cTa	p.P11058L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11060	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AATCAGAGTTGGAATACTTGT	0.488000													21	31					0	0	0.00188189	0	0
PLAC8L1	153770	broad.mit.edu	37	5	145483828	145483828	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:145483828G>A	ENST00000311450.4	-	1	104	c.47C>T	c.(46-48)tCc>tTc	p.S16F	RP11-118M9.3_ENST00000514002.1_RNA	NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	16										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGAGTAAGGAAAGATCCTC	0.398000													8	21					0	0	0.000274275	0	0
PRSS1	5644	broad.mit.edu	37	7	142460761	142460761	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:142460761G>A	ENST00000486171.1	+	6	693	c.676G>A	c.(676-678)Gga>Aga	p.G226R	PRSS1_ENST00000311737.7_Missense_Mutation_p.G212R			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	212	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)			ACAGCTCCAAGGAGTTGTCTC	0.502000													44	20					0	0	0.00285205	0	0
ALDOC	230	broad.mit.edu	37	17	26901211	26901211	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:26901211C>T	ENST00000226253.4	-	7	1148	c.673G>A	c.(673-675)Gag>Aag	p.E225K	ALDOC_ENST00000395321.2_Missense_Mutation_p.E225K|ALDOC_ENST00000395319.3_Missense_Mutation_p.E197K|RP11-192H23.5_ENST00000585189.1_RNA	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	225					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					AGGGTCCCCTCCAGGTATACA	0.582000													54	46					0	0	0.000781405	0	0
PDE10A	10846	broad.mit.edu	37	6	165832235	165832235	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:165832235G>A	ENST00000366882.1	-	12	1010	c.856C>T	c.(856-858)Cgt>Tgt	p.R286C	PDE10A_ENST00000354448.4_Missense_Mutation_p.R286C|PDE10A_ENST00000539869.2_Missense_Mutation_p.R296C			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	286	Allosteric effector binding.|GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGCGCACAACGATCGGCATTC	0.373000													14	9					0	0	0.000422831	0	0
COL4A2	1284	broad.mit.edu	37	13	111088659	111088659	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr13:111088659C>T	ENST00000360467.5	+	13	1076	c.770C>T	c.(769-771)aCc>aTc	p.T257I		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	257	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCATCAGACACCCTCCACCCC	0.458000													17	14					0	0	0.00188189	0	0
LIMA1	51474	broad.mit.edu	37	12	50615941	50615941	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:50615941G>A	ENST00000341247.4	-	4	642	c.493C>T	c.(493-495)Cta>Tta	p.L165L	LIMA1_ENST00000552823.1_Silent_p.L5L|LIMA1_ENST00000552909.1_Silent_p.L5L|LIMA1_ENST00000552783.1_Silent_p.L5L|LIMA1_ENST00000394943.3_Silent_p.L165L|RP3-405J10.4_ENST00000551284.1_RNA	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	165					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GATTCTCCTAGACAATTTTCC	0.418000													18	64					0	0	0.000566183	0	0
IGHG3	3502	broad.mit.edu	37	14	106237485	106237485	+	RNA	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:106237485G>A	ENST00000390551.2	-	0	257																											CTGGGCTTGTGATTCACGTTG	0.627000													15	33					0	0	0.000958276	0	0
PGM5P2	595135	broad.mit.edu	37	9	69127002	69127002	+	RNA	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:69127002C>T	ENST00000591037.1	-	0	556					NR_002836.2																						CCAAACTCTCCCCCTGGTCCT	0.453000													6	9					0	0	0.000274275	0	0
ROS1	6098	broad.mit.edu	37	6	117631415	117631415	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:117631415G>A	ENST00000368508.3	-	40	6461	c.6263C>T	c.(6262-6264)tCc>tTc	p.S2088F	ROS1_ENST00000368507.3_Missense_Mutation_p.S2082F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2088	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTCTTTCACGGAAACAAGGCA	0.378000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								37	48					0	0	0.00148497	0	0
CHERP	10523	broad.mit.edu	37	19	16640618	16640618	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:16640618A>G	ENST00000546361.2	-	8	1121	c.970T>C	c.(970-972)Ttt>Ctt	p.F324L	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.F335L	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	324	Gln-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CTGGTGACAAACTCCTCGTGC	0.627000													8	17					0	0	0.00136819	0	0
ZAN	7455	broad.mit.edu	37	7	100348354	100348354	+	RNA	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:100348354C>T	ENST00000542585.1	+	0	1504				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCGTGGAGTTCGCATACCACA	0.597000													5	12					0	0	0.00116845	0	0
MUC2	4583	broad.mit.edu	37	11	1090912	1090912	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:1090912C>T	ENST00000441003.2	+	28	3834	c.3807C>T	c.(3805-3807)acC>acT	p.T1269T	MUC2_ENST00000359061.5_Silent_p.T1270T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1269						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccaccttcaccaccatcaccc	0.617000													5	5					0	0	0.000602214	0	0
CREG1	8804	broad.mit.edu	37	1	167515488	167515488	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:167515488G>A	ENST00000370509.4	-	3	534	c.509C>T	c.(508-510)tCg>tTg	p.S170L		NM_003851.2	NP_003842.1	O75629	CREG1_HUMAN	cellular repressor of E1A-stimulated genes 1	170					cell proliferation|multicellular organismal development|regulation of growth|regulation of transcription from RNA polymerase II promoter	extracellular region	FMN binding|transcription corepressor activity										AATGAATAACGAATGCTTTGC	0.353000													26	33					0	0	0.000878237	0	0
UNC13C	440279	broad.mit.edu	37	15	54586225	54586225	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:54586225G>A	ENST00000545554.1	+	10	3951	c.3951G>A	c.(3949-3951)agG>agA	p.R1317R	UNC13C_ENST00000537900.1_Silent_p.R1315R|UNC13C_ENST00000260323.11_Silent_p.R1317R			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1317					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			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)		TAGAAGTGAGGACCTTGAGTG	0.363000													32	53					0	0	0.00148497	0	0
MYH2	4620	broad.mit.edu	37	17	10429146	10429146	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:10429146G>A	ENST00000245503.5	-	31	4619	c.4235C>T	c.(4234-4236)gCt>gTt	p.A1412V	MYH2_ENST00000397183.2_Missense_Mutation_p.A1412V|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1412					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGCGTTCACAGCTTCTACATG	0.483000													25	31					0	0	0.000878237	0	0
HCN4	10021	broad.mit.edu	37	15	73622119	73622119	+	Missense_Mutation	SNP	C	C	T	rs146714274		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:73622119C>T	ENST00000261917.3	-	4	2378	c.1385G>A	c.(1384-1386)gGg>gAg	p.G462E		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	462					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTACTGCTTCCCCCAGGAGTT	0.622000													7	12					0	0	0.000157383	0	0
PLIN4	729359	broad.mit.edu	37	19	4510976	4510976	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:4510976C>T	ENST00000301286.3	-	3	2953	c.2954G>A	c.(2953-2955)aGt>aAt	p.S985N		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	985	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGTAACCCCACTGAAGACAGT	0.617000													5	19					0	0	0.000602214	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995786	57995786	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:57995786G>A	ENST00000316770.2	-	1	604	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CGCAGGACGGGAGGCACATCG	0.622000													17	15					0	0	0.00188189	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554534	140554534	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140554534C>T	ENST00000231137.3	+	1	2292	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		706					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F706F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.692000													48	105					0	0	0.000781405	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033518	95033518	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:95033518G>A	ENST00000557004.1	+	3	1282	c.861G>A	c.(859-861)agG>agA	p.R287R	SERPINA4_ENST00000555095.1_Silent_p.R287R|SERPINA4_ENST00000298841.5_Silent_p.R287R|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	287					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			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)		GCAAAATGAGGGAGATTGAAG	0.468000													13	15					0	0	0.00136819	0	0
IL12RB1	3594	broad.mit.edu	37	19	18177380	18177380	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:18177380G>A	ENST00000600835.1	-	13	1758	c.1455C>T	c.(1453-1455)tgC>tgT	p.C485C	IL12RB1_ENST00000430026.2_Silent_p.C485C|IL12RB1_ENST00000593993.1_Silent_p.C485C			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	485	Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CTTCATCTCGGCAGCGGACAA	0.567000													18	32					0	0	0.000958276	0	0
FAM47B	170062	broad.mit.edu	37	X	34961290	34961290	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:34961290G>A	ENST00000329357.5	+	1	378	c.342G>A	c.(340-342)cgG>cgA	p.R114R		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	114										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGCCAGCACGGAAGGCGTTCG	0.532000													31	26					0	0	0.00209593	0	0
RPL5	6125	broad.mit.edu	37	1	93298955	93298955	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:93298955A>T	ENST00000370321.3	+	2	103	c.13A>T	c.(13-15)Aaa>Taa	p.K5*		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	5					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GGGGTTTGTTAAAGTTGTTAA	0.299000													48	42					0	0	0.000781405	0	0
SAMD12	401474	broad.mit.edu	37	8	119391770	119391770	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:119391770C>T	ENST00000314727.4	-	4	628	c.492G>A	c.(490-492)atG>atA	p.M164I	AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000409003.4_Intron|SAMD12_ENST00000527515.1_Intron	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	164										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TCTCCCCATCCATCCACCCAT	0.423000													31	32					0	0	0.00178596	0	0
DSCAM	1826	broad.mit.edu	37	21	41725663	41725663	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr21:41725663C>T	ENST00000400454.1	-	5	1140	c.663G>A	c.(661-663)gcG>gcA	p.A221A		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	221					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.A221A(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGGCTGAGTTCGCTGGGTCTG	0.498000													6	7					0	0	0.00116845	0	0
OR13H1	347468	broad.mit.edu	37	X	130678657	130678657	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:130678657T>G	ENST00000338616.3	+	1	708	c.610T>G	c.(610-612)Ttc>Gtc	p.F204V		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CACCAGTATCTTCACCCTGCT	0.453000													36	100					0	0	0.00128727	0	0
AGXT	189	broad.mit.edu	37	2	241808652	241808652	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:241808652C>T	ENST00000307503.3	+	2	618	c.231C>T	c.(229-231)gtC>gtT	p.V77V		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	77					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			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)	TCACACTGGTCATCTCTGGCT	0.607000													20	36					0	0	0.00278032	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045004	55045004	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:55045004G>A	ENST00000335056.3	+	3	162	c.124G>A	c.(124-126)Gga>Aga	p.G42R																	endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GGTTCCCCTAGGAGGACGTGT	0.557000													9	36					0	0	0.000673444	0	0
GLI3	2737	broad.mit.edu	37	7	42005316	42005316	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:42005316C>A	ENST00000395925.3	-	15	3439	c.3355G>T	c.(3355-3357)Gac>Tac	p.D1119Y	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1119					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			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						ACTTTGCTGTCGTCCGGGAGG	0.642000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				16	55					8.60227e-14	3.62507e-13	0.000422831	1	0
TCF20	6942	broad.mit.edu	37	22	42608428	42608428	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:42608428G>A	ENST00000359486.3	-	1	3020	c.2884C>T	c.(2884-2886)Cgc>Tgc	p.R962C	TCF20_ENST00000335626.4_Missense_Mutation_p.R962C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	962					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCATTGCCGCGGTAAGACTCA	0.522000													98	26					0	0	0.000781405	0	0
IL20RB	53833	broad.mit.edu	37	3	136701038	136701038	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:136701038C>T	ENST00000329582.4	+	3	501	c.252C>T	c.(250-252)atC>atT	p.I84I	IL20RB_ENST00000309741.5_Silent_p.I37I|IL20RB_ENST00000484501.1_Intron|IL20RB-AS1_ENST00000462176.2_RNA	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	84	Fibronectin type-III 1.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						ACATCTGGATCCCCAGCAGCT	0.557000													9	20					0	0	0.00185496	0	0
ZNF607	84775	broad.mit.edu	37	19	38189123	38189123	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:38189123T>C	ENST00000355202.4	-	5	2504	c.1909A>G	c.(1909-1911)Agc>Ggc	p.S637G	ZNF607_ENST00000395835.3_Missense_Mutation_p.S636G|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GCATGAACGCTTTCATGTCTA	0.368000													10	54					0	0	0.000673444	0	0
CALD1	800	broad.mit.edu	37	7	134625950	134625950	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:134625950C>T	ENST00000361388.2	+	7	1273	c.807C>T	c.(805-807)ttC>ttT	p.F269F	CALD1_ENST00000424922.1_Silent_p.F237F|CALD1_ENST00000417172.1_Silent_p.F243F|CALD1_ENST00000422748.1_Silent_p.F269F|CALD1_ENST00000361675.2_Silent_p.F498F|CALD1_ENST00000361901.2_Silent_p.F243F|CALD1_ENST00000495522.1_Silent_p.F263F|CALD1_ENST00000393118.2_Silent_p.F263F|CALD1_ENST00000543443.1_Silent_p.F248F	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	498					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	p.F498L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						ATGGAGAATTCATGACCCACA	0.328000													24	17					0	0	0.000586117	0	0
LAMB2	3913	broad.mit.edu	37	3	49159020	49159020	+	Silent	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:49159020T>C	ENST00000418109.1	-	32	5270	c.5106A>G	c.(5104-5106)ctA>ctG	p.L1702L	LAMB2_ENST00000305544.4_Silent_p.L1702L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1702	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGGACCGCGTAGCAGCTGCA	0.612000													4	27					0	0	0.00024832	0	0
HECTD1	25831	broad.mit.edu	37	14	31598181	31598181	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:31598181G>A	ENST00000399332.1	-	25	4884	c.4396C>T	c.(4396-4398)Cct>Tct	p.P1466S	HECTD1_ENST00000553700.1_Missense_Mutation_p.P1466S	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1466	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GAACTATCAGGGCCTAACTTC	0.443000													14	32					0	0	0.000422831	0	0
C2orf78	388960	broad.mit.edu	37	2	74042413	74042413	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:74042413G>A	ENST00000409561.1	+	3	1184	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	355										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCCAAGCCAGGAAAAAAATGA	0.428000													17	31					0	0	0.00152264	0	0
TRAT1	50852	broad.mit.edu	37	3	108572538	108572538	+	Silent	SNP	G	G	A	rs143422005		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:108572538G>A	ENST00000295756.6	+	6	605	c.375G>A	c.(373-375)agG>agA	p.R125R	TRAT1_ENST00000426646.1_Silent_p.R88R	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	125					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.R125R(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GAAAGCCCAGGAAACAGAATA	0.433000													23	29					0	0	0.00229938	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6427490	6427490	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:6427490G>A	ENST00000449001.2	+	10	1577	c.1083G>A	c.(1081-1083)ctG>ctA	p.L361L	PLEKHG6_ENST00000011684.7_Silent_p.L393L|PLEKHG6_ENST00000536531.1_Silent_p.L393L|PLEKHG6_ENST00000396988.3_Silent_p.L393L	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	393					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TCTCCACCCTGGACCTGACGT	0.652000													11	15					0	0	0.00136819	0	0
CDCA2	157313	broad.mit.edu	37	8	25346122	25346122	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:25346122C>T	ENST00000330560.3	+	13	2065	c.1588C>T	c.(1588-1590)Cag>Tag	p.Q530*	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Nonsense_Mutation_p.Q515*	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	530					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TACAGAAGTTCAGCCTTGTAA	0.348000													15	48					0	0	0.000422831	0	0
KRT5	3852	broad.mit.edu	37	12	52913965	52913965	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:52913965C>G	ENST00000252242.4	-	1	506	c.116G>C	c.(115-117)gGg>gCg	p.G39A		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	39	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCGCCACCCCCGGACCGGGA	0.677000													3	25					0	0	6.4e-05	0	0
ADCY8	114	broad.mit.edu	37	8	131916041	131916041	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:131916041C>T	ENST00000286355.5	-	7	3980	c.1888G>A	c.(1888-1890)Gat>Aat	p.D630N	ADCY8_ENST00000377928.3_Missense_Mutation_p.D630N	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	630					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACGATATTATCAAAGGGCAGT	0.507000										HNSCC(32;0.087)			18	37					0	0	0.00074312	0	0
TNR	7143	broad.mit.edu	37	1	175304902	175304902	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:175304902C>T	ENST00000367674.1	-	20	4284	c.3576G>A	c.(3574-3576)cgG>cgA	p.R1192R	TNR_ENST00000263525.2_Silent_p.R1192R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1192	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				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)					CAGCCCATTTCCGGAAAAAAT	0.418000													35	61					0	0	0.000953801	0	0
TNXB	7148	broad.mit.edu	37	6	32036897	32036897	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:32036897C>T	ENST00000375244.3	-	16	5805	c.5604G>A	c.(5602-5604)acG>acA	p.T1868T	TNXB_ENST00000375247.2_Silent_p.T1868T			P22105	TENX_HUMAN	tenascin XB	1950	Fibronectin type-III 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.T1868T(1)|p.T1955T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTCAGTTTCCGTTTCTTCCC	0.627000													31	151					0	0	0.00285205	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858185	149858185	+	Silent	SNP	A	A	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:149858185A>G	ENST00000369155.2	-	1	47	c.6T>C	c.(4-6)ccT>ccC	p.P2P		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	2					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TTGCCGGTTCAGGCATGGTAA	0.512000													11	22					0	0	0.000673444	0	0
COL27A1	85301	broad.mit.edu	37	9	116931602	116931602	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:116931602C>T	ENST00000356083.3	+	3	2158	c.1767C>T	c.(1765-1767)gcC>gcT	p.A589A		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	589	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCACCCCGGCCCTGGTATTGG	0.652000													15	35					0	0	0.000566183	0	0
CXorf61	203413	broad.mit.edu	37	X	115593954	115593954	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:115593954G>A	ENST00000371894.4	-	1	210	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	22						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						TGAAAGCGGCGATATTTCCAG	0.428000													34	30					0	0	0.00148497	0	0
TIRAP	114609	broad.mit.edu	37	11	126162942	126162942	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:126162942T>C	ENST00000392679.1	+	4	921	c.638T>C	c.(637-639)gTc>gCc	p.V213A	TIRAP_ENST00000392680.2_Missense_Mutation_p.V213A|RP11-712L6.7_ENST00000533378.1_RNA|TIRAP_ENST00000392678.3_Missense_Mutation_p.V213A			P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein	213	TIR.				3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway	endocytic vesicle|intrinsic to membrane|ruffle membrane	phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		AAAGAAGCTGTCATGCGTTGT	0.527000													14	8					0	0	0.000308642	0	0
EPPK1	83481	broad.mit.edu	37	8	144945562	144945562	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:144945562G>A	ENST00000525985.1	-	2	1931	c.1860C>T	c.(1858-1860)tcC>tcT	p.S620S				P58107	EPIPL_HUMAN	epiplakin 1	620						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCGTTCCTGGGAGCCAGGGA	0.647000													9	8					0	0	0.000274275	0	0
PAK7	57144	broad.mit.edu	37	20	9547011	9547011	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:9547011C>T	ENST00000378429.3	-	6	1557	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q	PAK7_ENST00000353224.5_Silent_p.Q337Q|PAK7_ENST00000378423.1_Silent_p.Q337Q	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	337	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGAGGACCATCTGTGCTCGAT	0.532000													39	55					0	0	0.00195071	0	0
TRBC2	28638	broad.mit.edu	37	7	142498753	142498753	+	RNA	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:142498753G>A	ENST00000466254.1	+	0	29																											TCCCACCCGAGGTCGCTGTGT	0.567000													9	40					0	0	0.000442599	0	0
EPHA6	285220	broad.mit.edu	37	3	97194224	97194224	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:97194224G>A	ENST00000389672.5	+	8	1961	c.1923G>A	c.(1921-1923)caG>caA	p.Q641Q	EPHA6_ENST00000502694.1_Silent_p.Q33Q|EPHA6_ENST00000514100.1_Silent_p.Q33Q|EPHA6_ENST00000442602.2_Silent_p.Q7Q	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	546	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			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						AACAAGGACAGATTCTCGTGA	0.413000													19	12					0	0	0.00152264	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674823	71674823	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:71674823G>A	ENST00000299952.4	+	3	1169	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	379	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CGCCAGCGTGGTGCTGGCCCT	0.597000													11	12					0	0	0.000673444	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870703	51870703	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:51870703G>A	ENST00000371497.5	+	2	1593	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	TSHZ2_ENST00000329613.6_Missense_Mutation_p.E233K|TSHZ2_ENST00000603338.2_Missense_Mutation_p.E233K	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	236					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCACATGAATGAAACGGGCCA	0.532000													16	23					0	0	0.000422831	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251757	25251757	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:25251757G>A	ENST00000328086.7	-	7	3087	c.2284C>T	c.(2284-2286)Cgt>Tgt	p.R762C		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	762					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CACATCAGACGAGTGCTCCTT	0.502000													12	29					0	0	0.000978159	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77369756	77369756	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:77369756G>A	ENST00000282849.5	-	12	2174	c.1756C>T	c.(1756-1758)Cgg>Tgg	p.R586W		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	586					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						TGGATGGGCCGGGGCCCGAGC	0.587000													19	74					0	0	0.000586117	0	0
AGAP11	119385	broad.mit.edu	37	10	88768349	88768349	+	RNA	SNP	A	A	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:88768349A>T	ENST00000444431.1	+	0	2949				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										TCACGCTGACACCATCGGGAG	0.522000													130	59					0	0	0.000781405	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561454	11561454	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:11561454G>A	ENST00000294484.6	+	2	543	c.405G>A	c.(403-405)cgG>cgA	p.R135R	PTCHD2_ENST00000389575.3_Silent_p.R135R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	135					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCTGGGGGCGGAACCGGCGCG	0.607000													18	33					0	0	0.00074312	0	0
ALPP	250	broad.mit.edu	37	2	233244608	233244608	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:233244608G>A	ENST00000392027.2	+	5	888	c.619G>A	c.(619-621)Gac>Aac	p.D207N	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	207						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGGGTGCCAGGACATCGCTAC	0.682000													17	41					0	0	0.000958276	0	0
TRPS1	7227	broad.mit.edu	37	8	116616576	116616576	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:116616576G>A	ENST00000395715.3	-	4	2197	c.1620C>T	c.(1618-1620)ttC>ttT	p.F540F	TRPS1_ENST00000520276.1_Silent_p.F531F|TRPS1_ENST00000220888.5_Silent_p.F527F|TRPS1_ENST00000519674.1_Silent_p.F527F|TRPS1_ENST00000519076.1_Intron	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	527					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGAAGTCACAGAACTGACAAT	0.458000									Langer-Giedion syndrome				50	67					0	0	0.000781405	0	0
C2orf40	84417	broad.mit.edu	37	2	106694293	106694293	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:106694293C>T	ENST00000409944.1	+	5	481	c.250C>T	c.(250-252)Caa>Taa	p.Q84*	C2orf40_ENST00000238044.3_Nonsense_Mutation_p.Q120*			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	120						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						CGATTACTACCAACGTCACTA	0.453000													22	42					0	0	0.00229938	0	0
OR10R2	343406	broad.mit.edu	37	1	158450327	158450327	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:158450327C>T	ENST00000368152.1	+	1	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					TTGTGATATTCATTTGTGGAG	0.408000													42	86					0	0	0.00222228	0	0
C17orf104	284071	broad.mit.edu	37	17	42745072	42745072	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:42745072G>A	ENST00000409122.2	+	5	1935	c.1793G>A	c.(1792-1794)gGg>gAg	p.G598E	C17orf104_ENST00000409464.1_Missense_Mutation_p.G432E|C17orf104_ENST00000359945.3_Missense_Mutation_p.G598E	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	598										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						CAGAAGTATGGGATAATTGAA	0.358000													10	6					0	0	0.000442599	0	0
STRA6	64220	broad.mit.edu	37	15	74476283	74476283	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:74476283G>A	ENST00000323940.5	-	14	1459	c.1214C>T	c.(1213-1215)cCc>cTc	p.P405L	STRA6_ENST00000574278.1_Missense_Mutation_p.P420L|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Missense_Mutation_p.P444L|STRA6_ENST00000535552.1_Missense_Mutation_p.P442L|STRA6_ENST00000449139.2_Missense_Mutation_p.P405L|STRA6_ENST00000423167.2_Missense_Mutation_p.P396L|STRA6_ENST00000416286.3_Missense_Mutation_p.P397L|STRA6_ENST00000395105.4_Missense_Mutation_p.P405L	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	405					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CCGATGCAAGGGACTCAAGTC	0.592000													22	17					0	0	0.00188189	0	0
ZNF831	128611	broad.mit.edu	37	20	57829713	57829713	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:57829713G>A	ENST00000371030.2	+	5	4949	c.4949G>A	c.(4948-4950)aGt>aAt	p.S1650N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1650						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGAAGAGGAGTCTGGAAGGA	0.443000													18	40					0	0	0.000958276	0	0
TRGV8	6982	broad.mit.edu	37	7	38370059	38370059	+	RNA	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:38370059C>T	ENST00000390343.2	-	0	352																											TCGACTGATTCCTGATTCCAA	0.458000													11	46					0	0	0.00136819	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105363294	105363294	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:105363294G>A	ENST00000369774.4	-	15	1957	c.1681C>T	c.(1681-1683)Cct>Tct	p.P561S	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.P396S|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.P533S|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.P428S			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	561					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCGAATGCAGGGATGTCATAC	0.677000													14	10					0	0	0.00244969	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182644	140182644	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140182644C>T	ENST00000522353.2	+	1	1862	c.1862C>T	c.(1861-1863)cCg>cTg	p.P621L	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P621L|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														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)			GCGCGCATCCCGTTTCGCGTG	0.667000													8	25					0	0	0.000274275	0	0
JAM3	83700	broad.mit.edu	37	11	134009758	134009758	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:134009758G>A	ENST00000299106.4	+	2	248	c.89G>A	c.(88-90)gGg>gAg	p.G30E	JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000441717.3_Missense_Mutation_p.G30E|JAM3_ENST00000529443.2_Missense_Mutation_p.G75E			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	30					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TGCCTGATAGGGGCTGTAAAT	0.453000											OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	21					0	0	0.00136819	0	0
AGAP11	119385	broad.mit.edu	37	10	88768350	88768350	+	RNA	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:88768350C>T	ENST00000444431.1	+	0	2950				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CACGCTGACACCATCGGGAGC	0.517000													129	59					0	0	0.000781405	0	0
AGK	55750	broad.mit.edu	37	7	141341053	141341053	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:141341053G>A	ENST00000355413.4	+	12	992	c.732G>A	c.(730-732)tgG>tgA	p.W244*	AGK_ENST00000473247.1_Nonsense_Mutation_p.W216*|AGK_ENST00000535825.1_Intron	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	244					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					AAAAGGAGTGGCCTCAGACTC	0.433000													29	20					0	0	0.000692331	0	0
DNAH2	146754	broad.mit.edu	37	17	7662210	7662210	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:7662210T>G	ENST00000572933.1	+	15	3676	c.2216T>G	c.(2215-2217)aTg>aGg	p.M739R	DNAH2_ENST00000389173.2_Missense_Mutation_p.M739R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	739	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)				TAGGTGCAGATGATTGTGAAT	0.537000													6	21					0	0	0.00116845	0	0
TMEM117	84216	broad.mit.edu	37	12	44781983	44781983	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:44781983C>T	ENST00000266534.3	+	8	1200	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F	TMEM117_ENST00000536799.1_Missense_Mutation_p.S254F|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	358						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		ACCAAGCTATCCTGGGAATGG	0.413000													36	34					0	0	0.000692331	0	0
TTC40	54777	broad.mit.edu	37	10	134628402	134628402	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:134628402C>A	ENST00000368586.5	-	51	7234	c.7134G>T	c.(7132-7134)aaG>aaT	p.K2378N	TTC40_ENST00000263170.5_Missense_Mutation_p.K539N	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	539										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TTCTTCCCTCCTTTTTCACGC	0.572000													78	36					6.64032e-35	2.81775e-34	0.000781405	1	0
SLC25A14	9016	broad.mit.edu	37	X	129474280	129474280	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:129474280A>T	ENST00000218197.5	+	1	255	c.28A>T	c.(28-30)Att>Ttt	p.I10F	SLC25A14_ENST00000543953.1_Intron|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000545805.1_Missense_Mutation_p.I10F|SLC25A14_ENST00000339231.3_Missense_Mutation_p.I10F|SLC25A14_ENST00000361980.5_Missense_Mutation_p.I10F	NM_003951.2|NM_022810.1	NP_003942.1|NP_073721.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	10					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AATAATCCTAATTTTTCTAAG	0.498000													27	23					0	0	0.0024448	0	0
MORC1	27136	broad.mit.edu	37	3	108723921	108723921	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:108723921G>A	ENST00000232603.5	-	19	2091	c.2009C>T	c.(2008-2010)tCc>tTc	p.S670F	MORC1_ENST00000483760.1_Missense_Mutation_p.S649F	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	670					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.S670Y(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TAATACCTGGGATCTCTCAGC	0.338000													28	68					0	0	0.001512	0	0
HDC	3067	broad.mit.edu	37	15	50535348	50535348	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:50535348G>A	ENST00000267845.3	-	11	1636	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C	HDC_ENST00000543581.1_Missense_Mutation_p.R379C	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	412					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ACCTTTAGACGAAAAACCACC	0.478000													14	12					0	0	0.00185496	0	0
TG	7038	broad.mit.edu	37	8	134128868	134128868	+	Silent	SNP	C	C	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:134128868C>A	ENST00000220616.4	+	45	7810	c.7770C>A	c.(7768-7770)atC>atA	p.I2590I	TG_ENST00000542445.1_Silent_p.I960I|TG_ENST00000519543.1_Silent_p.I723I|TG_ENST00000377869.1_Silent_p.I2533I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2590					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			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)		ACTTTATCATCTGCCCTATAA	0.537000													18	48					3.08376e-08	1.29061e-07	0.00047179	1	0
SPRY2	10253	broad.mit.edu	37	13	80911390	80911390	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr13:80911390G>A	ENST00000377102.1	-	2	1428	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	SPRY2_ENST00000540649.1_Missense_Mutation_p.R151W|SPRY2_ENST00000377104.3_Missense_Mutation_p.R151W			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	151					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GGTTGCACCCGGATTATGCCA	0.562000													4	31					0	0	0.000602214	0	0
DNM3	26052	broad.mit.edu	37	1	172011255	172011255	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:172011255C>T	ENST00000358155.4	+	8	1275	c.1099C>T	c.(1099-1101)Cat>Tat	p.H367Y	DNM3_ENST00000355305.5_Missense_Mutation_p.H367Y|DNM3_ENST00000367731.1_Missense_Mutation_p.H367Y|DNM3_ENST00000367733.2_Missense_Mutation_p.H367Y|DNM3_ENST00000520906.1_Missense_Mutation_p.H367Y	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	367					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCGTATTTTTCATGAACGCTT	0.358000													23	39					0	0	0.00188189	0	0
WAC	51322	broad.mit.edu	37	10	28897258	28897258	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:28897258C>T	ENST00000375664.3	+	8	1537	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	WAC_ENST00000428935.1_Missense_Mutation_p.P310S|WAC_ENST00000375646.1_Missense_Mutation_p.P207S|WAC_ENST00000354911.4_Missense_Mutation_p.P355S|WAC_ENST00000347934.4_Missense_Mutation_p.P252S			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	355					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GCCAATACCTCCCTTACTTCA	0.468000													19	8					0	0	0.00074312	0	0
KIF18A	81930	broad.mit.edu	37	11	28112954	28112954	+	Splice_Site	SNP	A	A	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:28112954A>T	ENST00000263181.6	-	4	879		c.e4+1			NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A						blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTATATACATACCTGGTGTAA	0.388000													15	69					0	0	0.00074312	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125367418	125367418	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:125367418G>A	ENST00000431078.1	+	12	2158	c.1794G>A	c.(1792-1794)ggG>ggA	p.G598G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	598	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGCACCAGGGGAATACAGCCG	0.537000													16	32					0	0	0.000308642	0	0
OR51A4	401666	broad.mit.edu	37	11	4967515	4967515	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:4967515G>A	ENST00000380373.2	-	1	841	c.816C>T	c.(814-816)ctC>ctT	p.L272L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAACATTAATGAGGGGAGAGA	0.443000													31	144					0	0	0.00209593	0	0
NUDT4	11163	broad.mit.edu	37	12	93793087	93793087	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:93793087C>A	ENST00000337179.5	+	5	918	c.478C>A	c.(478-480)Ctt>Att	p.L160I	NUDT4_ENST00000548662.1_Missense_Mutation_p.L107I|NUDT4_ENST00000549992.1_Missense_Mutation_p.L107I|NUDT4_ENST00000547014.1_Missense_Mutation_p.L108I|NUDT4_ENST00000415493.2_Missense_Mutation_p.L159I	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	159					calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						AGTCCCTTCCCTTCCGGATAA	0.473000													19	151					4.35082e-09	1.8234e-08	0.00152264	1	0
HDC	3067	broad.mit.edu	37	15	50535050	50535050	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:50535050G>A	ENST00000267845.3	-	12	1798	c.1396C>T	c.(1396-1398)Ctc>Ttc	p.L466F	HDC_ENST00000543581.1_Missense_Mutation_p.L433F	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	466					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TCTCGAATGAGATTCCAGTCT	0.527000													9	13					0	0	0.000442599	0	0
AKAP9	10142	broad.mit.edu	37	7	91713966	91713966	+	Missense_Mutation	SNP	C	C	T	rs146689921		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:91713966C>T	ENST00000356239.3	+	34	8892	c.8659C>T	c.(8659-8661)Cct>Tct	p.P2887S	AKAP9_ENST00000359028.2_Intron|AKAP9_ENST00000358100.2_Intron	NM_005751.4|NM_147185.2	NP_005742.4|NP_671714.1	Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2899					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			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)			ATCCTCAATTCCTGAGCTAGC	0.299000			T	BRAF	papillary thyroid								12	60					0	0	0.00136819	0	0
PROKR2	128674	broad.mit.edu	37	20	5283294	5283294	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:5283294G>A	ENST00000546004.1	-	3	793	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	PROKR2_ENST00000217270.3_Missense_Mutation_p.L183F			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	183						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ATGGCAATGAGAATGGACACC	0.512000										HNSCC(71;0.22)			39	87					0	0	0.00285205	0	0
PFKFB1	5207	broad.mit.edu	37	X	54964045	54964045	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:54964045A>G	ENST00000375006.3	-	11	1281	c.1211T>C	c.(1210-1212)tTc>tCc	p.F404S	PFKFB1_ENST00000545676.1_Missense_Mutation_p.F339S|PFKFB1_ENST00000374992.2_Missense_Mutation_p.F204S	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	404	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTTATCCAGGAAATAGGCCAG	0.463000													10	8					0	0	0.00244969	0	0
SORL1	6653	broad.mit.edu	37	11	121393401	121393401	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:121393401T>C	ENST00000260197.7	+	10	1640	c.1511T>C	c.(1510-1512)aTc>aCc	p.I504T	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	504					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			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)		CCAGGCCTCATCATCGCCACT	0.582000													17	71					0	0	0.000566183	0	0
GRIK3	2899	broad.mit.edu	37	1	37271706	37271706	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:37271706C>T	ENST00000373091.3	-	14	2329	c.2314_splice	c.e14+1	p.M771_splice	GRIK3_ENST00000373093.4_Splice_Site_p.M771_splice	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	771					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTCGCTCACCCATGGGCGTGC	0.652000													12	17					0	0	0.000308642	0	0
SCN3A	6328	broad.mit.edu	37	2	165984373	165984373	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:165984373C>T	ENST00000360093.3	-	18	3652	c.3161G>A	c.(3160-3162)gGa>gAa	p.G1054E	SCN3A_ENST00000409101.3_Missense_Mutation_p.G1005E|SCN3A_ENST00000283254.7_Missense_Mutation_p.G1054E	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1054						voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	TATTTCAATTCCAGTATTATT	0.373000													38	46					0	0	0.000814825	0	0
DLGAP1	9229	broad.mit.edu	37	18	3567488	3567488	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr18:3567488C>T	ENST00000315677.3	-	9	2652	c.2057_splice	c.e9+1	p.C686_splice	DLGAP1_ENST00000534970.1_Splice_Site_p.C370_splice|DLGAP1_ENST00000400149.3_Splice_Site_p.C376_splice|DLGAP1_ENST00000584874.1_Splice_Site_p.C686_splice|DLGAP1_ENST00000539435.1_Splice_Site_p.C394_splice|DLGAP1_ENST00000581527.1_Splice_Site_p.C686_splice|DLGAP1_ENST00000400147.2_Splice_Site_p.C384_splice|DLGAP1_ENST00000400150.3_Splice_Site_p.C402_splice|DLGAP1_ENST00000400155.1_Splice_Site_p.C392_splice|DLGAP1_ENST00000400145.2_Splice_Site_p.C384_splice|DLGAP1_ENST00000581699.1_Splice_Site_p.C392_splice|DLGAP1_ENST00000515196.2_Splice_Site_p.C686_splice	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	686					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				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)				GTGGACTTACCACTTCTCTTC	0.418000													61	22					0	0	0.000781405	0	0
RBKS	64080	broad.mit.edu	37	2	28113192	28113192	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:28113192G>A	ENST00000302188.3	-	1	773	c.21C>T	c.(19-21)ccC>ccT	p.P7P	RBKS_ENST00000444339.2_Silent_p.P7P	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	7					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					ACTGCCTCTGGGGTTCCCCAG	0.652000													7	12					0	0	0.000274275	0	0
HOMER2	9455	broad.mit.edu	37	15	83561583	83561583	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:83561583T>C	ENST00000304231.8	-	2	208	c.16A>G	c.(16-18)Atc>Gtc	p.I6V	HOMER2_ENST00000450735.2_Missense_Mutation_p.I6V|HOMER2_ENST00000399166.2_Missense_Mutation_p.I6V|HOMER2_ENST00000426485.1_Missense_Mutation_p.I6V	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	6	WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						GTGGTGAAGATGGGCTGTTCT	0.478000													31	33					0	0	0.00058488	0	0
FRYL	285527	broad.mit.edu	37	4	48545867	48545867	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:48545867G>A	ENST00000358350.4	-	44	6153	c.5549C>T	c.(5548-5550)tCc>tTc	p.S1850F	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.S1850F|FRYL_ENST00000537810.1_Missense_Mutation_p.S1850F	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1850					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TACAAGTCTGGAGAGAACATC	0.438000													28	12					0	0	0.00111076	0	0
NFIX	4784	broad.mit.edu	37	19	13135903	13135903	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:13135903C>T	ENST00000358552.3	+	1	93	c.93C>T	c.(91-93)aaC>aaT	p.N31N	NFIX_ENST00000587260.1_Silent_p.N31N|NFIX_ENST00000592199.1_Silent_p.N32N|NFIX_ENST00000397661.2_Silent_p.N32N|NFIX_ENST00000585575.1_Silent_p.N24N|NFIX_ENST00000587760.1_Silent_p.N24N|NFIX_ENST00000588228.1_5'UTR|NFIX_ENST00000360105.4_Silent_p.N35N			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	32					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CCTGGTTCAACCTGCAGGCGC	0.632000													5	10					0	0	0.000602214	0	0
DNAH1	25981	broad.mit.edu	37	3	52431002	52431002	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:52431002A>C	ENST00000420323.2	+	73	11990	c.11729A>C	c.(11728-11730)gAg>gCg	p.E3910A		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3975	AAA 6 (By similarity).				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			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)		CTCTCCCCTGAGCACAGCTAC	0.617000													3	3					0	0	6.4e-05	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526248	176526248	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:176526248T>C	ENST00000367662.3	+	2	1954	c.790T>C	c.(790-792)Tac>Cac	p.Y264H	PAPPA2_ENST00000367661.3_Missense_Mutation_p.Y264H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	264					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCCCATCTTATACTTCTCTGG	0.572000													12	25					0	0	0.00136819	0	0
GDPD2	54857	broad.mit.edu	37	X	69645640	69645640	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:69645640G>A	ENST00000453994.2	+	4	598	c.237G>A	c.(235-237)tgG>tgA	p.W79*	GDPD2_ENST00000374382.3_Nonsense_Mutation_p.W79*|GDPD2_ENST00000536730.1_De_novo_Start_InFrame|GDPD2_ENST00000538649.1_De_novo_Start_InFrame	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	79					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GGGGACACTGGATGGACTGGT	0.617000													23	13					0	0	0.001512	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166145	180166145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:180166145C>T	ENST00000307832.2	-	1	954	c.914G>A	c.(913-915)tGg>tAg	p.W305*		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGCCCCTCCATAGTACTTT	0.423000													48	59					0	0	0.000781405	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52714670	52714670	+	Missense_Mutation	SNP	C	C	T	rs112759633		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:52714670C>T	ENST00000322088.6	+	4	486	c.428C>T	c.(427-429)tCc>tTc	p.S143F	PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S88F	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	143	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TGGTTCACCTCCCGCACCTCG	0.642000			Mis		clear cell ovarian carcinoma								16	31					0	0	0.000422831	0	0
TOX2	84969	broad.mit.edu	37	20	42695394	42695394	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:42695394C>T	ENST00000358131.5	+	7	1535	c.1327C>T	c.(1327-1329)Ccc>Tcc	p.P443S	TOX2_ENST00000372999.1_Missense_Mutation_p.P419S|TOX2_ENST00000341197.3_Missense_Mutation_p.P461S|TOX2_ENST00000435864.2_Missense_Mutation_p.P339S|TOX2_ENST00000423191.1_Missense_Mutation_p.P419S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	443	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			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)			CTCTGAGTTCCCCAGCAGCTC	0.647000													24	43					0	0	0.000878237	0	0
HBG2	3048	broad.mit.edu	37	11	5275617	5275617	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:5275617C>T	ENST00000380259.2	-	7	1460	c.220G>A	c.(220-222)Gat>Aat	p.D74N	HBG2_ENST00000380252.1_Missense_Mutation_p.D64N|HBG2_ENST00000336906.4_Missense_Mutation_p.D74N					hemoglobin, gamma G											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)		TTTATGGCATCTCCCAAGGAA	0.527000													47	103					0	0	0.000781405	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884134	228884134	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:228884134G>A	ENST00000392056.3	-	7	1482	c.1436C>T	c.(1435-1437)aCc>aTc	p.T479I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.T479I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	479						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GATGCTTGAGGTTTCAACAGA	0.532000													13	35					0	0	0.00136819	0	0
LARP6	55323	broad.mit.edu	37	15	71125175	71125175	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:71125175C>T	ENST00000299213.8	-	3	762	c.692G>A	c.(691-693)cGg>cAg	p.R231Q		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	231					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TTTGAGGATCCGCACTGATGA	0.582000													8	15					0	0	0.000157383	0	0
MPRIP	23164	broad.mit.edu	37	17	17049351	17049351	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:17049351C>T	ENST00000395811.5	+	10	1240	c.1149_splice	c.e10-1	p.P384_splice	MPRIP_ENST00000444976.1_Splice_Site_p.P346_splice|MPRIP_ENST00000395804.3_Splice_Site_p.P384_splice|MPRIP_ENST00000341712.4_Splice_Site_p.P384_splice	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	384						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTTTCTCAGCCCGACCTGCTG	0.542000													6	13					0	0	0.00198382	0	0
AGRP	181	broad.mit.edu	37	16	67516960	67516960	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:67516960C>T	ENST00000290953.2	-	3	483	c.184G>A	c.(184-186)Gat>Aat	p.D62N	RP11-297D21.4_ENST00000602596.1_RNA	NM_001138.1	NP_001129.1	O00253	AGRP_HUMAN	agouti related protein homolog (mouse)	62					hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior	extracellular space|Golgi lumen	neuropeptide hormone activity			endometrium(1)	1		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		TGCAACAGATCCTCTTCTGCC	0.607000													24	33					0	0	0.00106085	0	0
ACAN	176	broad.mit.edu	37	15	89398549	89398549	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:89398549C>T	ENST00000439576.2	+	12	3107	c.2733C>T	c.(2731-2733)ggC>ggT	p.G911G	ACAN_ENST00000561243.1_Silent_p.G911G|ACAN_ENST00000352105.7_Silent_p.G911G|ACAN_ENST00000559004.1_Silent_p.G911G	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	911					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGGGCTCAGGCCTGCCTGTGG	0.582000													15	7					0	0	0.00244969	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131785610	131785610	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:131785610C>T	ENST00000392953.3	+	5	1039	c.520C>T	c.(520-522)Cac>Tac	p.H174Y	ARHGEF4_ENST00000409303.1_Missense_Mutation_p.H174Y|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.H103Y|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.H174Y|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.H174Y	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	174					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			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)		CTCCAGCCACCACTACAGCCA	0.632000													6	15					0	0	0.000157383	0	0
NEIL2	252969	broad.mit.edu	37	8	11640909	11640909	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:11640909G>A	ENST00000284503.6	+	4	1287		c.e4+1		NEIL2_ENST00000528323.1_Splice_Site|NEIL2_ENST00000436750.3_Splice_Site|NEIL2_ENST00000455213.2_Splice_Site|NEIL2_ENST00000403422.3_Splice_Site	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)						base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TCAGGGCTAGGTATGACTCAT	0.537000								Base excision repair (BER), DNA glycosylases					18	29					0	0	0.00121646	0	0
CDH24	64403	broad.mit.edu	37	14	23523812	23523812	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:23523812G>A	ENST00000397359.3	-	5	946	c.687C>T	c.(685-687)gcC>gcT	p.A229A	CDH24_ENST00000554034.1_Silent_p.A229A|CDH24_ENST00000487137.2_Silent_p.A229A|CDH24_ENST00000267383.5_Silent_p.A229A	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	229	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCATGTCCTTGGCCTGGATCA	0.602000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	26					0	0	0.000274275	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6527632	6527632	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:6527632C>T	ENST00000377748.1	-	22	3740	c.3242_splice	c.e22-1	p.S1081_splice	PLEKHG5_ENST00000400913.1_Splice_Site_p.S1004_splice|PLEKHG5_ENST00000377728.3_Splice_Site_p.S1004_splice|PLEKHG5_ENST00000377740.3_Splice_Site_p.S850_splice|PLEKHG5_ENST00000535355.1_Splice_Site_p.S1073_splice|PLEKHG5_ENST00000377732.1_Splice_Site_p.S1041_splice|PLEKHG5_ENST00000537245.1_Splice_Site_p.S1083_splice|PLEKHG5_ENST00000377725.1_3'UTR|PLEKHG5_ENST00000377737.2_Splice_Site_p.S1004_splice|PLEKHG5_ENST00000340850.5_Splice_Site_p.S1004_splice|PLEKHG5_ENST00000400915.3_Splice_Site_p.S1060_splice	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	1060					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTCAGACCTCCCTACAGGGTG	0.632000													22	88					0	0	0.000720815	0	0
OR2B3	442184	broad.mit.edu	37	6	29055016	29055016	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:29055016C>T	ENST00000377173.2	-	1	74	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3									p.E4*(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CTCTCATTTTCCCAATTCATG	0.363000													4	24					0	0	0.00024832	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43659461	43659461	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:43659461C>T	ENST00000374466.3	+	5	1463	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	376					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAGCCGAATTCCTTAACAGCT	0.438000													34	12					0	0	0.000814825	0	0
ENC1	8507	broad.mit.edu	37	5	73931417	73931417	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:73931417G>A	ENST00000302351.4	-	2	2024	c.894C>T	c.(892-894)ttC>ttT	p.F298F	ENC1_ENST00000537006.1_Silent_p.F298F|ENC1_ENST00000510316.1_Silent_p.F225F	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	298					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTCCCAGAAGGAAGAGGGCAT	0.507000													9	20					0	0	0.000274275	0	0
KCNA4	3739	broad.mit.edu	37	11	30032279	30032279	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:30032279C>T	ENST00000328224.6	-	2	3180	c.1947G>A	c.(1945-1947)gtG>gtA	p.V649V		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	649						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			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						CATCAGTCTCCACAGCCTTTG	0.428000													11	54					0	0	0.000978159	0	0
ZNF470	388566	broad.mit.edu	37	19	57088460	57088460	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:57088460C>T	ENST00000330619.8	+	6	1349	c.663C>T	c.(661-663)gaC>gaT	p.D221D	ZNF470_ENST00000391709.3_Silent_p.D221D|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ACAAGCAAGACCGTGGAGAAA	0.308000													18	29					0	0	0.00121646	0	0
ARID3B	10620	broad.mit.edu	37	15	74836479	74836479	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:74836479C>T	ENST00000346246.5	+	2	433	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						TCCCTTAGGTCCCTTAGCCAG	0.562000													12	12					0	0	0.00185496	0	0
NLRP11	204801	broad.mit.edu	37	19	56297047	56297047	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:56297047G>A	ENST00000443188.1	-	12	3756	c.3046C>T	c.(3046-3048)Ccc>Tcc	p.P1016S	NLRP11_ENST00000592953.1_Missense_Mutation_p.P917S|NLRP11_ENST00000589824.2_Missense_Mutation_p.P962S|NLRP11_ENST00000589093.1_Missense_Mutation_p.P1016S|NLRP11_ENST00000360133.3_Missense_Mutation_p.P962S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	1016							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GACATTCTGGGAAATTTGAAA	0.373000													23	56					0	0	0.00047179	0	0
KMT2B	9757	broad.mit.edu	37	19	36218823	36218823	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:36218823C>T	ENST00000420124.1	+	18	4434	c.4434C>T	c.(4432-4434)caC>caT	p.H1478H	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Silent_p.H1478H																							TCATGCGGCACTCGGAGGAGG	0.627000													5	11					0	0	0.00116845	0	0
OR2M3	127062	broad.mit.edu	37	1	248366744	248366744	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:248366744C>T	ENST00000456743.1	+	1	413	c.375C>T	c.(373-375)gcC>gcT	p.A125A		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			GCTACACTGCCATTTGCCACC	0.443000													26	171					0	0	0.000720815	0	0
KIF21B	23046	broad.mit.edu	37	1	200967659	200967659	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:200967659C>T	ENST00000332129.2	-	14	2246	c.1930G>A	c.(1930-1932)Gaa>Aaa	p.E644K	KIF21B_ENST00000360529.5_Missense_Mutation_p.E644K|KIF21B_ENST00000461742.2_Missense_Mutation_p.E644K|KIF21B_ENST00000422435.2_Missense_Mutation_p.E644K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	644					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGCTTGATTTCGATCTCACAA	0.567000													30	39					0	0	0.001512	0	0
ZFP3	124961	broad.mit.edu	37	17	4994885	4994885	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:4994885C>T	ENST00000318833.3	+	2	422	c.86C>T	c.(85-87)cCa>cTa	p.P29L		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GAAAAATTTCCAAAAGTGGTT	0.423000													29	20					0	0	0.001512	0	0
GNAS	2778	broad.mit.edu	37	20	57428691	57428691	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:57428691C>T	ENST00000371100.4	+	1	923	c.371C>T	c.(370-372)cCc>cTc	p.P124L	GNAS_ENST00000306120.3_Missense_Mutation_p.P61S|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.P124L|GNAS_ENST00000371102.4_Missense_Mutation_p.P124L|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCTGGATTCCCCAGTGGGGTC	0.632000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			12	28					0	0	0.00244969	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144892467	144892467	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:144892467A>G	ENST00000369351.3	-	22	3046	c.2938T>C	c.(2938-2940)Tgg>Cgg	p.W980R	PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313431.9_Intron|PDE4DIP_ENST00000524974.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			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)		TGTGCTGTCCACCCTGGAAGT	0.488000			T	PDGFRB	MPD								16	115					0	0	0.000422831	0	0
TNXB	7148	broad.mit.edu	37	6	32036905	32036905	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:32036905C>T	ENST00000375244.3	-	16	5797	c.5596G>A	c.(5596-5598)Gaa>Aaa	p.E1866K	TNXB_ENST00000375247.2_Missense_Mutation_p.E1866K			P22105	TENX_HUMAN	tenascin XB	1948	Fibronectin type-III 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCGTTTCTTCCCTGCCGGCT	0.627000													21	134					0	0	0.00058488	0	0
NTRK3	4916	broad.mit.edu	37	15	88476251	88476251	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:88476251C>T	ENST00000394480.1	-	16	2202	c.1881G>A	c.(1879-1881)aaG>aaA	p.K627K	NTRK3_ENST00000557856.1_Silent_p.K619K|NTRK3_ENST00000355254.2_Silent_p.K627K|NTRK3_ENST00000360948.2_Silent_p.K627K|NTRK3_ENST00000357724.2_Silent_p.K619K|NTRK3_ENST00000558676.1_Silent_p.K619K|NTRK3_ENST00000542733.2_Silent_p.K529K	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	627	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACCTGAGGAACTTATTCAGGT	0.517000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			14	15					0	0	0.000422831	0	0
IGHV3-49	28423	broad.mit.edu	37	14	107013315	107013315	+	RNA	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:107013315C>T	ENST00000390625.2	-	0	126																											CACTCATGTCCCCTCACACTC	0.468000													19	23					0	0	0.00074312	0	0
CHIC1	53344	broad.mit.edu	37	X	72797281	72797281	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:72797281C>T	ENST00000373504.6	+	2	420	c.335C>T	c.(334-336)tCc>tTc	p.S112F	CHIC1_ENST00000373502.5_Missense_Mutation_p.S112F			Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	112						cytoplasmic membrane-bounded vesicle|plasma membrane				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					GAATTTCCCTCCGTTCTAACA	0.343000													62	40					0	0	0.000781405	0	0
AMOT	154796	broad.mit.edu	37	X	112058649	112058649	+	Silent	SNP	G	G	A	rs149397566	byFrequency	TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:112058649G>A	ENST00000371959.3	-	2	1328	c.1329C>T	c.(1327-1329)gaC>gaT	p.D443D	AMOT_ENST00000371958.1_Silent_p.D211D|AMOT_ENST00000524145.1_Silent_p.D443D|AMOT_ENST00000371962.1_Silent_p.D211D|AMOT_ENST00000304758.1_Silent_p.D34D	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	443					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			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						TCCGGTTCTCGTCTGAGAGGA	0.522000													85	56					0	0	0.000781405	0	0
SCG3	29106	broad.mit.edu	37	15	51981460	51981460	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:51981460G>A	ENST00000220478.3	+	6	988	c.585G>A	c.(583-585)gaG>gaA	p.E195E	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	195					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AAGTAGCAGAGGTTTTACAAA	0.373000													13	17					0	0	0.00244969	0	0
TMEM67	91147	broad.mit.edu	37	8	94828667	94828667	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:94828667G>A	ENST00000453321.3	+	28	3033	c.2975G>A	c.(2974-2976)aGa>aAa	p.R992K	TMEM67_ENST00000409623.3_Missense_Mutation_p.R911K	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	992					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GTGGATCAAAGATTTTTGATT	0.274000													37	62					0	0	0.00148497	0	0
OR4M1	441670	broad.mit.edu	37	14	20248826	20248826	+	Silent	SNP	C	C	T	rs138166254		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:20248826C>T	ENST00000315957.4	+	1	426	c.345C>T	c.(343-345)ctC>ctT	p.L115L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TGTTCTTGCTCACAGTGATGG	0.488000													23	151					0	0	0.00229938	0	0
RHCG	51458	broad.mit.edu	37	15	90021107	90021107	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:90021107G>A	ENST00000268122.4	-	6	1004	c.936C>T	c.(934-936)gtC>gtT	p.V312V	RHCG_ENST00000544600.1_Silent_p.V312V	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	312					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			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)					TGATGCCGCAGACGAAGCCGA	0.587000													14	16					0	0	0.000308642	0	0
TRIM35	23087	broad.mit.edu	37	8	27146715	27146715	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:27146715G>A	ENST00000305364.4	-	5	951	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	TRIM35_ENST00000521253.1_Missense_Mutation_p.P250L	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	290	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		TTCCAGACGCGGTACTGCAGG	0.572000													11	7					0	0	0.00136819	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535361	166535361	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:166535361C>T	ENST00000314499.7	+	7	1232	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	CSRNP3_ENST00000409420.1_Missense_Mutation_p.P318S|CSRNP3_ENST00000342316.4_Missense_Mutation_p.P286S	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	286					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GCAGCAAATCCCCACGCTGAA	0.448000													26	29					0	0	0.000720815	0	0
MUC5B	727897	broad.mit.edu	37	11	1265003	1265003	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:1265003C>T	ENST00000447027.1	+	31	6960	c.6902C>T	c.(6901-6903)cCc>cTc	p.P2301L	MUC5B_ENST00000529681.1_Missense_Mutation_p.P2298L|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2298	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCCTGCTGCCCAGCAGCCCC	0.687000													12	42					0	0	0.000308642	0	0
CD1B	910	broad.mit.edu	37	1	158300748	158300748	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:158300748G>A	ENST00000368168.3	-	2	273	c.166C>T	c.(166-168)Cat>Tat	p.H56Y		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	56					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TCCCAGCCATGAATCTGCAAA	0.493000													102	200					0	0	0.000781405	0	0
FZD1	8321	broad.mit.edu	37	7	90896063	90896063	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:90896063C>T	ENST00000287934.2	+	1	2281	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	623					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			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)			TGGATCTGGTCCGGCAAGACC	0.597000													18	21					0	0	0.000958276	0	0
DISC1	27185	broad.mit.edu	37	1	231954099	231954099	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:231954099A>T	ENST00000439617.2	+	9	1870	c.1817A>T	c.(1816-1818)gAc>gTc	p.D606V	DISC1_ENST00000602873.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.D606V|DISC1_ENST00000366636.4_Missense_Mutation_p.D606V|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000535983.1_Missense_Mutation_p.D606V|DISC1_ENST00000539444.1_Missense_Mutation_p.T572S|DISC1_ENST00000366633.3_Missense_Mutation_p.D606V	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	606	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ACGGCTAAAGACCTCACCGAG	0.483000													30	31					0	0	0.00209593	0	0
GLP2R	9340	broad.mit.edu	37	17	9783724	9783724	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:9783724C>T	ENST00000262441.5	+	11	1688	c.1175C>T	c.(1174-1176)cCt>cTt	p.P392L	GLP2R_ENST00000574745.1_Missense_Mutation_p.P212L	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	392					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GTCCTCATTCCTTTATTGGGC	0.413000													65	71					0	0	0.000781405	0	0
WDR65	149465	broad.mit.edu	37	1	43649360	43649360	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:43649360C>T	ENST00000372492.4	+	4	897	c.573C>T	c.(571-573)agC>agT	p.S191S	WDR65_ENST00000528956.1_Silent_p.S191S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	191										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCAAACCAGCTTTCAGAGGG	0.488000													21	62					0	0	0.00152264	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215876	20215876	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:20215876G>A	ENST00000331723.1	+	1	290	c.290G>A	c.(289-291)gGa>gAa	p.G97E		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTTTTCAGGATGCCTGGCC	0.473000													5	35					0	0	0.000602214	0	0
TRIM61	391712	broad.mit.edu	37	4	165890999	165890999	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:165890999G>A	ENST00000329314.5	-	3	768	c.156C>T	c.(154-156)ccC>ccT	p.P52P		NM_001012414.2	NP_001012414.1	Q5EBN2	TRI61_HUMAN	tripartite motif containing 61	52						intracellular	zinc ion binding			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		AAAAGGGGCAGGGGAAACTAT	0.453000													22	10					0	0	0.00229938	0	0
TMC5	79838	broad.mit.edu	37	16	19485494	19485494	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:19485494C>T	ENST00000396229.2	+	12	2735	c.1986C>T	c.(1984-1986)ttC>ttT	p.F662F	TMC5_ENST00000561503.1_Silent_p.F303F|TMC5_ENST00000542583.2_Silent_p.F662F|TMC5_ENST00000381414.4_Silent_p.F662F|TMC5_ENST00000219821.5_Silent_p.F416F|TMC5_ENST00000541464.1_Silent_p.F610F|TMC5_ENST00000564959.1_Silent_p.F345F	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	662						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TACTGCCTTTCGTTGTGTCCT	0.547000													15	71					0	0	0.000308642	0	0
BTBD8	284697	broad.mit.edu	37	1	92554331	92554331	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:92554331C>T	ENST00000370382.3	+	2	493	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	BTBD8_ENST00000342818.3_Missense_Mutation_p.L76F|BTBD8_ENST00000540648.1_Missense_Mutation_p.L76F			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	76	BTB 1.					nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CAAAGCAGTCCTTTTAGCAAG	0.368000													29	77					0	0	0.001512	0	0
C1orf198	84886	broad.mit.edu	37	1	230979419	230979419	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:230979419G>A	ENST00000366663.5	-	3	748	c.608C>T	c.(607-609)cCt>cTt	p.P203L	C1orf198_ENST00000470540.1_Missense_Mutation_p.P165L|C1orf198_ENST00000523410.1_Missense_Mutation_p.P73L|C1orf198_ENST00000427697.2_5'UTR	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	203										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CTCGGCCTCAGGCCCCTCCCC	0.642000													25	22					0	0	0.000586117	0	0
DNAH5	1767	broad.mit.edu	37	5	13763005	13763005	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:13763005G>A	ENST00000265104.4	-	60	10211	c.10107C>T	c.(10105-10107)ttC>ttT	p.F3369F	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3369	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F3369L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTCTTTTGGGAATTGCTATG	0.368000									Kartagener syndrome				51	8					0	0	0.000781405	0	0
CEP250	11190	broad.mit.edu	37	20	34091156	34091156	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:34091156C>T	ENST00000397527.1	+	30	5679	c.4959C>T	c.(4957-4959)ctC>ctT	p.L1653L	CEP250_ENST00000342580.4_Silent_p.L1597L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1653	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTCAGGATCTCGAGAGGAGAG	0.567000													41	77					0	0	0.00222228	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058027	152058027	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:152058027C>T	ENST00000368806.1	-	3	2195	c.2131G>A	c.(2131-2133)Gga>Aga	p.G711R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	711							calcium ion binding			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)			GTTGCTCTTCCTTTCTCTTCT	0.443000													66	70					0	0	0.000781405	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764752	138764752	+	Missense_Mutation	SNP	G	G	A	rs150932310		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:138764752G>A	ENST00000242351.5	-	4	1251	c.935C>T	c.(934-936)tCg>tTg	p.S312L	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S312L|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S312L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	312					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						AGCCTTGGACGAGCCTGAGGG	0.587000													29	26					0	0	0.000878237	0	0
DEFA3	1668	broad.mit.edu	37	8	6873538	6873538	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:6873538C>T	ENST00000327857.2	-	3	350	c.259G>A	c.(259-261)Gga>Aga	p.G87R	DEFA1B_ENST00000535841.1_Intron	NM_005217.3	NP_005208.1			defensin, alpha 3, neutrophil-specific											endometrium(1)|prostate(2)	3				COAD - Colon adenocarcinoma(149;0.0561)|READ - Rectum adenocarcinoma(644;0.118)		CAGAGTCTTCCCTGGTAGATG	0.473000													23	45					0	0	0.000878237	0	0
LILRA3	11026	broad.mit.edu	37	19	54803596	54803596	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:54803596C>T	ENST00000391745.1	-	7	595	c.279G>A	c.(277-279)gaG>gaA	p.E93E	LILRA3_ENST00000251390.3_Silent_p.E76E|LILRA3_ENST00000391744.3_Silent_p.E76E					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTTCACAAGCTCCTGTGGGA	0.537000													20	13					0	0	0.00188189	0	0
GJB3	2707	broad.mit.edu	37	1	35251051	35251051	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:35251051T>C	ENST00000373366.2	+	2	1303	c.688T>C	c.(688-690)Tcg>Ccg	p.S230P	GJB3_ENST00000373362.3_Missense_Mutation_p.S230P|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	230					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TTGCAGCCCCTCGTCCTCCGC	0.632000													8	15					0	0	0.000157383	0	0
IFNLR1	163702	broad.mit.edu	37	1	24484058	24484058	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:24484058G>A	ENST00000327535.1	-	7	1137	c.1125C>T	c.(1123-1125)gtC>gtT	p.V375V	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Silent_p.V346V	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		CTTCGCTTGGGACCAGAGGAG	0.622000													18	15					0	0	0.000566183	0	0
HEG1	57493	broad.mit.edu	37	3	124739640	124739640	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:124739640G>A	ENST00000311127.4	-	4	1315	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	416						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ACTTACTTGGGGAATCATTTT	0.383000													21	36					0	0	0.00152264	0	0
CACNB4	785	broad.mit.edu	37	2	152711872	152711872	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:152711872T>G	ENST00000360283.6	-	10	1044	c.787A>C	c.(787-789)Att>Ctt	p.I263L	CACNB4_ENST00000397327.2_Missense_Mutation_p.I249L|CACNB4_ENST00000539935.1_Missense_Mutation_p.I296L|CACNB4_ENST00000427385.1_Missense_Mutation_p.I278L|CACNB4_ENST00000201943.5_Missense_Mutation_p.I296L|CACNB4_ENST00000534999.1_Missense_Mutation_p.I262L			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	296					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	ATTCTTTCAATTTCACTTTGT	0.333000													14	21					0	0	0.00185496	0	0
COL4A3	1285	broad.mit.edu	37	2	228172560	228172560	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:228172560G>A	ENST00000396578.3	+	48	4549	c.4387G>A	c.(4387-4389)Ggg>Agg	p.G1463R	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1463	Collagen IV NC1.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ATGTCCAGAGGGGACAGTGCC	0.502000													19	41					0	0	0.00152264	0	0
PCSK5	5125	broad.mit.edu	37	9	78790127	78790127	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:78790127G>A	ENST00000376767.3	+	14	2494	c.1982G>A	c.(1981-1983)tGg>tAg	p.W661*	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						agaatggaatggaatggaatg	0.433000													8	17					0	0	0.000157383	0	0
BRD4	23476	broad.mit.edu	37	19	15350808	15350808	+	Silent	SNP	C	C	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:15350808C>G	ENST00000263377.2	-	15	3416	c.3195G>C	c.(3193-3195)ccG>ccC	p.P1065P		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1065					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GTATCATAAGCGGGGAGGGGG	0.567000			T	C15orf55	lethal midline carcinoma of young people								6	27					0	0	0.000157383	0	0
INHBC	3626	broad.mit.edu	37	12	57843234	57843234	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:57843234C>T	ENST00000309668.2	+	2	615	c.488C>T	c.(487-489)aCc>aTc	p.T163I	INHBC_ENST00000550133.1_Missense_Mutation_p.T163I	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	163					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						ACCAACCTCACCTTGGCTACT	0.567000													39	45					0	0	0.00170553	0	0
CUL7	9820	broad.mit.edu	37	6	43019484	43019484	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:43019484G>A	ENST00000535468.1	-	3	936	c.850C>T	c.(850-852)Ctt>Ttt	p.L284F	CUL7_ENST00000265348.3_Missense_Mutation_p.L200F	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	200					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGTGACAGAAGGATCTGAGTC	0.498000													40	40					0	0	0.0025221	0	0
ZNF568	374900	broad.mit.edu	37	19	37441305	37441305	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:37441305C>T	ENST00000415168.1	+	5	1434	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.P417L|ZNF568_ENST00000427117.1_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTGAGAAACCCTATGTATGT	0.388000													22	27					0	0	0.00047179	0	0
CSMD3	114788	broad.mit.edu	37	8	113702234	113702234	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:113702234C>T	ENST00000297405.5	-	14	2262	c.2018G>A	c.(2017-2019)gGa>gAa	p.G673E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G633E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G569E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G673E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	673	Sushi 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCTCTAATTCCATATAAGGG	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			88	145					0	0	0.000781405	0	0
CYP4F8	11283	broad.mit.edu	37	19	15740206	15740206	+	RNA	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:15740206T>C	ENST00000441682.2	+	0	1662							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TTGCATCACCTACCTTTGCAC	0.582000													4	3					0	0	0.00024832	0	0
HYDIN	54768	broad.mit.edu	37	16	70917885	70917885	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:70917885C>T	ENST00000393567.2	-	59	10067	c.9917G>A	c.(9916-9918)cGa>cAa	p.R3306Q		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3306										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCAGGGTCTCGGCCGGAGAT	0.537000													5	25					0	0	0.00116845	0	0
MIR543	100126335	broad.mit.edu	37	14	101498395	101498395	+	RNA	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:101498395C>T	ENST00000390751.1	+	0	72					NR_030619.1																						ACTTCTTTTTCAGTATCCTAT	0.502000													8	15					0	0	0.000673444	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3679968	3679968	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:3679968G>A	ENST00000344754.4	-	7	1666	c.1667C>T	c.(1666-1668)cCc>cTc	p.P556L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P556L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	556	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCTGCTGCCGGGACCCTCGTG	0.677000													5	6					0	0	0.000602214	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457959	45457959	+	RNA	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:45457959G>A	ENST00000548424.1	+	0	448																											TTCTCTTTCAGCTTTTACTGT	0.438000													9	18					0	0	0.000978159	0	0
RP11-876N24.2	0	broad.mit.edu	37	16	10960422	10960422	+	RNA	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:10960422C>T	ENST00000572017.1	-	0	438																											GCCACAGTGACCATGGTGGTA	0.562000													3	2					0	0	6.4e-05	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503257	140503257	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140503257C>T	ENST00000194152.1	+	1	1677	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		559	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGCTGTACC	0.701000													11	16					0	0	0.000958276	0	0
OR6S1	341799	broad.mit.edu	37	14	21109567	21109567	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:21109567G>A	ENST00000320704.3	-	1	283	c.284C>T	c.(283-285)tCc>tTc	p.S95F		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S95F(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGCAGCAAAGGAAATAGTGTG	0.468000													18	33					0	0	0.00229938	0	0
FAM47C	442444	broad.mit.edu	37	X	37026709	37026709	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:37026709T>A	ENST00000358047.3	+	1	278	c.226T>A	c.(226-228)Ttt>Att	p.F76I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	76								p.F76I(1)		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						CCGTGACGAGTTTTTACTCCC	0.527000													16	15					0	0	0.000566183	0	0
FRG1B	284802	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:29625892T>C	ENST00000278882.3	+	5	516	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H|FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348000													6	67					0	0	0.00198382	0	0
CHEK1	1111	broad.mit.edu	37	11	125503111	125503111	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:125503111C>T	ENST00000534070.1	+	6	733	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	CHEK1_ENST00000524737.1_Missense_Mutation_p.R160C|CHEK1_ENST00000428830.2_Missense_Mutation_p.R160C|CHEK1_ENST00000438015.1_Missense_Mutation_p.R160C|CHEK1_ENST00000278916.3_Missense_Mutation_p.R160C|CHEK1_ENST00000544373.1_Missense_Mutation_p.R160C|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000427383.2_Missense_Mutation_p.R176C	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	160	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GTATAATAATCGTGAGCGTTT	0.358000								Other conserved DNA damage response genes					18	54					0	0	0.00152264	0	0
KAT2B	8850	broad.mit.edu	37	3	20153274	20153274	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:20153274C>T	ENST00000263754.4	+	6	1493	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	346					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TCACTCATTTCCCAAAGTAAG	0.423000													6	21					0	0	0.000157383	0	0
TRIM58	25893	broad.mit.edu	37	1	248028016	248028016	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:248028016G>A	ENST00000366481.3	+	3	574	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	176						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAGAAAGTGGAAATGCAGAG	0.582000													10	23					0	0	0.000673444	0	0
CPN2	1370	broad.mit.edu	37	3	194062986	194062986	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:194062986G>A	ENST00000323830.3	-	2	535	c.446C>T	c.(445-447)tCc>tTc	p.S149F	CPN2_ENST00000429275.1_Missense_Mutation_p.S149F	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	149					protein stabilization	extracellular region	enzyme regulator activity			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)		CAGGTGGAGGGACTCCAGGGC	0.622000													18	27					0	0	0.000958276	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15115510	15115510	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:15115510C>T	ENST00000253699.3	-	14	2747	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.E712K	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	712	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GTGGGTTCCTCAAAGGGGTTA	0.552000													21	40					0	0	0.00152264	0	0
ZNF208	7757	broad.mit.edu	37	19	22156113	22156113	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:22156113G>A	ENST00000397126.4	-	4	1871	c.1723C>T	c.(1723-1725)Cat>Tat	p.H575Y	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTACAGTATGAATTTTCTTA	0.348000													11	17					0	0	0.000978159	0	0
PLS1	5357	broad.mit.edu	37	3	142405183	142405183	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:142405183G>A	ENST00000337777.3	+	9	1159	c.946G>A	c.(946-948)Gga>Aga	p.G316R	PLS1_ENST00000457734.2_Missense_Mutation_p.G316R|PLS1_ENST00000497002.1_Missense_Mutation_p.G316R	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	316	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TGGGGAAGATGGACCTGCCAT	0.338000													29	30					0	0	0.000953801	0	0
TTN	7273	broad.mit.edu	37	2	179500945	179500945	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:179500945T>C	ENST00000589042.1	-	226	41577	c.41353A>G	c.(41353-41355)Aca>Gca	p.T13785A	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T12144A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T4912A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T4720A|TTN_ENST00000359218.5_Missense_Mutation_p.T4845A|TTN_ENST00000342992.6_Missense_Mutation_p.T11217A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12144	Ig-like 94.		N -> S (in a breast pleomorphic lobular carcinoma sample; somatic mutation).				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)			TCTTCCAGTGTTTTTACAAAA	0.373000													12	11					0	0	0.00136819	0	0
ZBP1	81030	broad.mit.edu	37	20	56185226	56185226	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:56185226C>T	ENST00000340462.4	-	6	1283	c.1003G>A	c.(1003-1005)Ggg>Agg	p.G335R	ZBP1_ENST00000371173.3_Missense_Mutation_p.G358R|ZBP1_ENST00000395822.3_Missense_Mutation_p.G283R|ZBP1_ENST00000343535.4_Missense_Mutation_p.G358R			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	358						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CCTGGCTCCCCCTCTCCAGAC	0.587000													19	64					0	0	0.00121646	0	0
APOB	338	broad.mit.edu	37	2	21236327	21236327	+	Silent	SNP	G	G	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:21236327G>T	ENST00000233242.1	-	25	4048	c.3921C>A	c.(3919-3921)tcC>tcA	p.S1307S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1307					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTAGATCTCTGGAGGATTTGC	0.428000													8	392					0.000274275	0.00114163	0.000274275	1	0
DCDC1	341019	broad.mit.edu	37	11	31086081	31086081	+	Silent	SNP	C	C	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:31086081C>A	ENST00000597505.1	-	18	2525	c.2526G>T	c.(2524-2526)acG>acT	p.T842T	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.T461T(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)					TCAGCTCCCCCGTCTCCTCAA	0.483000													5	103					0.00116845	0.00483708	0.00116845	1	0
ABCA6	23460	broad.mit.edu	37	17	67129904	67129904	+	Silent	SNP	A	A	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:67129904A>G	ENST00000284425.2	-	6	843	c.669T>C	c.(667-669)ttT>ttC	p.F223F		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	223					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGAATAAAATAAACATCTCAT	0.318000													10	35					0	0	0.000978159	0	0
CCR4	1233	broad.mit.edu	37	3	32995941	32995941	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:32995941C>A	ENST00000330953.5	+	2	1195	c.1027C>A	c.(1027-1029)Ccc>Acc	p.P343T		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	343					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGCTGACACCCCCAGCTCATC	0.453000													5	33					0.00116845	0.00483708	0.00116845	1	0
RPL9	6133	broad.mit.edu	37	4	39456226	39456226	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:39456226G>A	ENST00000449470.2	-	6	964	c.516C>T	c.(514-516)atC>atT	p.I172I	RPL9_ENST00000295955.9_Silent_p.I172I	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9	172					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|nucleolus|ribosome	rRNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						AAAATTTCCTGATATCCTTGT	0.353000													17	7					0	0	0.00074312	0	0
ACOX1	51	broad.mit.edu	37	17	73945838	73945838	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:73945838G>A	ENST00000537812.1	-	10	1973	c.1325C>T	c.(1324-1326)cCc>cTc	p.P442L	ACOX1_ENST00000293217.5_Missense_Mutation_p.P480L|ACOX1_ENST00000301608.4_Missense_Mutation_p.P480L	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	480					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TAGGCTTTCGGGGCTGTTGAT	0.567000													16	40					0	0	0.000308642	0	0
CEP128	145508	broad.mit.edu	37	14	81251619	81251619	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:81251619G>A	ENST00000555265.1	-	15	2206	c.1831C>T	c.(1831-1833)Cac>Tac	p.H611Y	CEP128_ENST00000281129.3_Missense_Mutation_p.H611Y			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	611						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCCTCCAAGTGAGCTTTCTCA	0.453000													29	58					0	0	0.00127121	0	0
CNTN2	6900	broad.mit.edu	37	1	205028341	205028341	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:205028341C>T	ENST00000331830.4	+	6	901	c.617C>T	c.(616-618)tCc>tTc	p.S206F		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	206	Ig-like C2-type 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGCAACTACTCCTGTTTGGCC	0.582000													8	18					0	0	0.000274275	0	0
ATP2A3	489	broad.mit.edu	37	17	3856722	3856722	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:3856722C>T	ENST00000309890.7	-	3	288	c.136_splice	c.e3-1	p.G46_splice	ATP2A3_ENST00000397041.3_Splice_Site_p.G46_splice|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Splice_Site_p.G46_splice|ATP2A3_ENST00000397035.3_Splice_Site_p.G46_splice|ATP2A3_ENST00000352011.3_Splice_Site_p.G46_splice|ATP2A3_ENST00000359983.3_Splice_Site_p.G46_splice	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	46					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			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)		ACAGGGACTTCCCTGGGAACG	0.652000													5	17					0	0	0.000602214	0	0
YLPM1	56252	broad.mit.edu	37	14	75302090	75302090	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:75302090C>T	ENST00000325680.7	+	20	6541	c.6417C>T	c.(6415-6417)gcC>gcT	p.A2139A	YLPM1_ENST00000552421.1_Silent_p.A1433A	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1944					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTGAAAAAGCCCTCAATCGAA	0.413000													16	36					0	0	0.000566183	0	0
SIM1	6492	broad.mit.edu	37	6	100841376	100841376	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:100841376G>A	ENST00000369208.3	-	11	2339	c.1557C>T	c.(1555-1557)gtC>gtT	p.V519V	SIM1_ENST00000262901.4_Silent_p.V519V			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	519	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGATCCTGTGGACTGAAGCGA	0.552000													11	48					0	0	0.00185496	0	0
POP1	10940	broad.mit.edu	37	8	99162864	99162864	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:99162864A>T	ENST00000401707.2	+	14	2135	c.2054A>T	c.(2053-2055)aAa>aTa	p.K685I	POP1_ENST00000349693.3_Missense_Mutation_p.K685I	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	685					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GAAAAGTACAAAAGGTAAGAA	0.413000													8	24					0	0	0.000274275	0	0
SZT2	23334	broad.mit.edu	37	1	43891205	43891205	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:43891205C>T	ENST00000562955.1	+	19	2706	c.2706C>T	c.(2704-2706)ctC>ctT	p.L902L	SZT2_ENST00000372442.1_Silent_p.L60L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	902						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTCAGAGCTCAATCTGGTCA	0.557000													27	92					0	0	0.00106085	0	0
GPR97	222487	broad.mit.edu	37	16	57707263	57707263	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:57707263A>C	ENST00000333493.4	+	2	250	c.89A>C	c.(88-90)aAc>aCc	p.N30T	GPR97_ENST00000450388.3_5'UTR|GPR97_ENST00000327655.6_5'UTR	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	30					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGCCAAGAAACACCTGCCTG	0.532000													7	32					0	0	0.00198382	0	0
TRPM2	7226	broad.mit.edu	37	21	45786783	45786783	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr21:45786783C>T	ENST00000397928.1	+	4	1015	c.570C>T	c.(568-570)ttC>ttT	p.F190F	TRPM2_ENST00000300481.9_Silent_p.F190F|TRPM2_ENST00000397932.2_Silent_p.F190F|TRPM2_ENST00000300482.5_Silent_p.F190F	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	190						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			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						AGAGCATTTTCCGCAGAGGCC	0.642000													11	7					0	0	0.000978159	0	0
LTN1	26046	broad.mit.edu	37	21	30316752	30316752	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr21:30316752G>A	ENST00000361371.4	-	22	4085	c.3935C>T	c.(3934-3936)tCc>tTc	p.S1312F	LTN1_ENST00000389194.2_Missense_Mutation_p.S1358F	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1312							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GATGCCTTGGGAAAAAAATTC	0.383000													28	46					0	0	0.00178596	0	0
FAM221A	340277	broad.mit.edu	37	7	23724254	23724254	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:23724254C>T	ENST00000344962.4	+	2	291	c.202C>T	c.(202-204)Ctt>Ttt	p.L68F	FAM221A_ENST00000409994.3_Intron|FAM221A_ENST00000409653.1_Intron|FAM221A_ENST00000409192.3_Missense_Mutation_p.L68F	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	68																	GGATTGTAAACTTGTGGGCCC	0.348000													25	19					0	0	0.00106085	0	0
RYR2	6262	broad.mit.edu	37	1	237758871	237758871	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:237758871G>A	ENST00000366574.2	+	34	4827	c.4510G>A	c.(4510-4512)Gga>Aga	p.G1504R	RYR2_ENST00000360064.6_Missense_Mutation_p.G1502R|RYR2_ENST00000542537.1_Missense_Mutation_p.G1488R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1504	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACAATAATGGACTGGAGAT	0.498000													6	24					0	0	0.00198382	0	0
UBXN10	127733	broad.mit.edu	37	1	20517366	20517366	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:20517366C>T	ENST00000375099.3	+	2	396	c.312C>T	c.(310-312)ccC>ccT	p.P104P		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	104										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						AGCAAGTACCCACTGGGGCTT	0.522000													46	39					0	0	0.000781405	0	0
SLC22A6	9356	broad.mit.edu	37	11	62747339	62747339	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:62747339G>A	ENST00000377871.3	-	7	1385	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	SLC22A6_ENST00000360421.4_Silent_p.I373I|SLC22A6_ENST00000421062.2_Silent_p.I373I|SLC22A6_ENST00000537349.1_Intron|SLC22A6_ENST00000458333.2_Silent_p.I373I	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	373					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.I373I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAGCACCAAAGATCACCTGGA	0.572000													12	30					0	0	0.000978159	0	0
TNFAIP8L1	126282	broad.mit.edu	37	19	4652031	4652031	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:4652031G>A	ENST00000536716.1	+	2	296	c.150G>A	c.(148-150)acG>acA	p.T50T	TNFAIP8L1_ENST00000327473.4_Silent_p.T50T	NM_001167942.1	NP_001161414.1	Q8WVP5	TP8L1_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 1	50										endometrium(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAGTTCACGCGCAGCCGCA	0.637000													4	15					0	0	0.000602214	0	0
OMA1	115209	broad.mit.edu	37	1	58946724	58946724	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:58946724C>T	ENST00000371226.3	-	9	1601	c.1488G>A	c.(1486-1488)acG>acA	p.T496T	OMA1_ENST00000358603.2_Intron|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	496					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TCTGTTTCTTCGTGATATTTA	0.353000													58	56					0	0	0.000781405	0	0
PPP1R1C	151242	broad.mit.edu	37	2	182850861	182850861	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:182850861G>A	ENST00000409137.3	+	1	267	c.24G>A	c.(22-24)aaG>aaA	p.K8K	PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000452904.1_Silent_p.K8K|PPP1R1C_ENST00000280295.3_Silent_p.K8K|PPP1R1C_ENST00000409702.1_Silent_p.K8K	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	8					signal transduction	cytoplasm	protein phosphatase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			GTCCCAAAAAGATACAGTTTG	0.448000													36	68					0	0	0.00285205	0	0
OTOF	9381	broad.mit.edu	37	2	26705274	26705274	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:26705274C>T	ENST00000272371.2	-	14	1705	c.1579_splice	c.e14+1	p.G527_splice	OTOF_ENST00000403946.3_Splice_Site_p.G527_splice	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	527					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			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)					CGCTGCTGACCTTTGTCTCCG	0.572000													12	22					0	0	0.00136819	0	0
ADAM10	102	broad.mit.edu	37	15	58902632	58902632	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:58902632G>A	ENST00000260408.3	-	14	2332	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F	ADAM10_ENST00000396140.2_Missense_Mutation_p.S329F|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	630	Cys-rich.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		GTTGCAAGGGGATCCAGGTTG	0.468000													17	32					0	0	0.000566183	0	0
ZFPL1	7542	broad.mit.edu	37	11	64855563	64855563	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:64855563C>T	ENST00000294258.3	+	8	1062	c.910C>T	c.(910-912)Cac>Tac	p.H304Y		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	304					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CATGAACCCTCACATCCGCGT	0.657000													15	50					0	0	0.000422831	0	0
COL15A1	1306	broad.mit.edu	37	9	101777808	101777808	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:101777808C>T	ENST00000375001.3	+	10	1886	c.1463C>T	c.(1462-1464)cCc>cTc	p.P488L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	488	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGCCTGGCTCCCCTCACAGCC	0.562000													7	12					0	0	0.000274275	0	0
OTOL1	131149	broad.mit.edu	37	3	161214851	161214851	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:161214851C>T	ENST00000327928.4	+	1	256	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	86						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CACTCTCTCTCCCTTTGAAAA	0.463000													42	40					0	0	0.000781405	0	0
MRC2	9902	broad.mit.edu	37	17	60742014	60742014	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:60742014A>C	ENST00000303375.5	+	2	626	c.224A>C	c.(223-225)cAg>cCg	p.Q75P		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	75	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CTCCCTGCCCAGCGCTGGAAG	0.652000													5	34					0	0	0.000602214	0	0
RYR3	6263	broad.mit.edu	37	15	33858941	33858941	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:33858941G>A	ENST00000389232.4	+	12	1279	c.1209G>A	c.(1207-1209)gaG>gaA	p.E403E	RYR3_ENST00000415757.3_Silent_p.E403E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	403					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			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)		GCCAGCGTGAGGAGTCCCAGG	0.517000													28	35					0	0	0.00127121	0	0
CLPTM1	1209	broad.mit.edu	37	19	45476417	45476417	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:45476417G>T	ENST00000541297.2	+	3	682	c.217G>T	c.(217-219)Gga>Tga	p.G73*	CLPTM1_ENST00000337392.5_Nonsense_Mutation_p.G87*|CLPTM1_ENST00000546079.1_5'UTR			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	87					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GGGCCCCGGAGGAGCTCCACG	0.632000													68	96					1.4533e-46	6.17552e-46	0.000781405	1	0
TMEM132B	114795	broad.mit.edu	37	12	125834043	125834043	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:125834043C>T	ENST00000299308.3	+	2	106	c.98C>T	c.(97-99)tCg>tTg	p.S33L	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	33						integral to membrane				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)		AAGTTTTCCTCGCTCCCTGCT	0.463000													32	80					0	0	0.000692331	0	0
PLOD3	8985	broad.mit.edu	37	7	100856396	100856396	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:100856396G>A	ENST00000223127.3	-	7	1167	c.769C>T	c.(769-771)Ccc>Tcc	p.P257S		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	257					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ACCTTAGTGGGACCGTTTCCA	0.602000													5	24					0	0	0.00198382	0	0
BMP5	653	broad.mit.edu	37	6	55625290	55625290	+	Missense_Mutation	SNP	C	C	T	rs147691986		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:55625290C>T	ENST00000370830.3	-	5	1767	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	BMP5_ENST00000446683.2_Missense_Mutation_p.E357K	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	357					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACATAGAGTTCGTGCTTCTTA	0.348000													9	39					0	0	0.000673444	0	0
SOX6	55553	broad.mit.edu	37	11	16119235	16119235	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:16119235C>T	ENST00000352083.6	-	8	976		c.e8-1		SOX6_ENST00000316399.6_Splice_Site|SOX6_ENST00000528429.1_Splice_Site|SOX6_ENST00000396356.3_Splice_Site|SOX6_ENST00000528252.1_Splice_Site|SOX6_ENST00000527619.1_Splice_Site			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6						muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TAGTTATCACCTGTCGGAAAG	0.458000													19	26					0	0	0.00152264	0	0
CACNA1A	773	broad.mit.edu	37	19	13428134	13428134	+	Splice_Site	SNP	A	A	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:13428134A>G	ENST00000360228.5	-	11	1346	c.1345_splice	c.e11-1	p.G449_splice	CACNA1A_ENST00000573710.2_Splice_Site_p.G450_splice	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	450					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGAAGGGAGAACCTGCCAGGG	0.502000													3	10					0	0	6.4e-05	0	0
PDE11A	50940	broad.mit.edu	37	2	178936519	178936519	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:178936519G>A	ENST00000286063.5	-	1	963	c.646C>T	c.(646-648)Ctt>Ttt	p.L216F	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	216					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GTGAGGTCAAGGTCATTGGAG	0.502000									Primary Pigmented Nodular Adrenocortical Disease, Familial				29	58					0	0	0.00283554	0	0
DENND4A	10260	broad.mit.edu	37	15	65962215	65962215	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:65962215G>A	ENST00000443035.3	-	27	4901	c.4686C>T	c.(4684-4686)tcC>tcT	p.S1562S	DENND4A_ENST00000431932.2_Silent_p.S1519S	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TTGAAATGGAGGATGGAAAGT	0.388000													22	19					0	0	0.000878237	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68221874	68221874	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:68221874T>C	ENST00000347230.4	-	37	7018	c.6880A>G	c.(6880-6882)Aag>Gag	p.K2294E	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.K140E	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2294					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCCTTGGCCTTAAGTAGCCAT	0.478000													15	41					0	0	0.000308642	0	0
BZRAP1	9256	broad.mit.edu	37	17	56403732	56403732	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:56403732C>T	ENST00000355701.3	-	3	1362	c.492G>A	c.(490-492)agG>agA	p.R164R	BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1_ENST00000343736.4_Silent_p.R164R|BZRAP1_ENST00000268893.6_Silent_p.R164R	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	164						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGGCGTTCTTCCTCTTCAGCC	0.607000													24	24					0	0	0.000720815	0	0
SEMA6C	10500	broad.mit.edu	37	1	151108200	151108200	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:151108200G>A	ENST00000341697.3	-	14	2991	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	434	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTACTGTGGGGACCAGCCATG	0.582000													16	36					0	0	0.000308642	0	0
STRA6	64220	broad.mit.edu	37	15	74476282	74476282	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:74476282G>A	ENST00000323940.5	-	14	1460	c.1215C>T	c.(1213-1215)ccC>ccT	p.P405P	STRA6_ENST00000574278.1_Silent_p.P420P|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Silent_p.P444P|STRA6_ENST00000535552.1_Silent_p.P442P|STRA6_ENST00000449139.2_Silent_p.P405P|STRA6_ENST00000423167.2_Silent_p.P396P|STRA6_ENST00000416286.3_Silent_p.P397P|STRA6_ENST00000395105.4_Silent_p.P405P	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	405					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TCCGATGCAAGGGACTCAAGT	0.597000													21	17					0	0	0.00152264	0	0
DSG3	1830	broad.mit.edu	37	18	29040811	29040811	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr18:29040811C>T	ENST00000257189.4	+	7	783	c.700C>T	c.(700-702)Cgt>Tgt	p.R234C		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	234	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAGCAGCTATCGTCTGGTTGT	0.338000													19	6					0	0	0.00188189	0	0
PXT1	222659	broad.mit.edu	37	6	36368263	36368263	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:36368263C>T	ENST00000454782.2	-	4	751	c.268G>A	c.(268-270)Ggg>Agg	p.G90R		NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	7						peroxisome											ATGTTGTCCCCAATGTGTCTC	0.483000													19	83					0	0	0.00121646	0	0
GAGE10	643832	broad.mit.edu	37	X	49173756	49173756	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:49173756G>A	ENST00000407599.3	+	4	410	c.317G>A	c.(316-318)aGg>aAg	p.R106K		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	106										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					GAGGTGAAAAGGCCTGAAGAA	0.473000													80	40					0	0	0.000781405	0	0
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517000													9	284					0	0	0.000442599	0	0
COL22A1	169044	broad.mit.edu	37	8	139626153	139626153	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:139626153C>T	ENST00000303045.6	-	56	4381	c.3935G>A	c.(3934-3936)gGa>gAa	p.G1312E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1292E|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1312	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCAGTGGGTCCAGTGTCACC	0.498000										HNSCC(7;0.00092)			37	66					0	0	0.00195071	0	0
OTOF	9381	broad.mit.edu	37	2	26705273	26705273	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:26705273C>T	ENST00000272371.2	-	14	1706		c.e14+1		OTOF_ENST00000403946.3_Splice_Site	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						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			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)					CCGCTGCTGACCTTTGTCTCC	0.577000													12	22					0	0	0.00136819	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450539	107450539	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:107450539C>T	ENST00000409382.3	-	3	1617	c.1007G>A	c.(1006-1008)gGg>gAg	p.G336E	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G336E|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G336E	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	336					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGTTTTATTCCCAACATCTTT	0.388000													52	87					0	0	0.000781405	0	0
PCDHA2	56146	broad.mit.edu	37	5	140174764	140174764	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140174764G>A	ENST00000526136.1	+	1	215	c.215G>A	c.(214-216)gGg>gAg	p.G72E	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.G72E|PCDHA2_ENST00000520672.2_Missense_Mutation_p.G72E	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGACACGGGGACCTTCTG	0.622000													34	48					0	0	0.00111076	0	0
ATP1A3	478	broad.mit.edu	37	19	42485885	42485885	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:42485885G>A	ENST00000545399.1	-	10	1483	c.1330C>T	c.(1330-1332)Cct>Tct	p.P444S	ATP1A3_ENST00000543770.1_Missense_Mutation_p.P442S|ATP1A3_ENST00000602133.1_Missense_Mutation_p.P401S|ATP1A3_ENST00000302102.5_Missense_Mutation_p.P431S	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	431					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.P431T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TTGAGCACAGGGATGTTGTCC	0.592000													6	21					0	0	0.00198382	0	0
MPRIP	23164	broad.mit.edu	37	17	17049352	17049352	+	Silent	SNP	C	C	T	rs139934070	by1000genomes	TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:17049352C>T	ENST00000395811.5	+	10	1241	c.1152C>T	c.(1150-1152)ccC>ccT	p.P384P	MPRIP_ENST00000444976.1_Silent_p.P346P|MPRIP_ENST00000395804.3_Silent_p.P384P|MPRIP_ENST00000341712.4_Silent_p.P384P	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	384						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TTTCTCAGCCCGACCTGCTGA	0.542000													6	13					0	0	0.00198382	0	0
CENPJ	55835	broad.mit.edu	37	13	25457366	25457366	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr13:25457366C>T	ENST00000381884.4	-	17	4151	c.3966G>A	c.(3964-3966)cgG>cgA	p.R1322R	CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1322					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TAACTCTTATCCGACCGGATC	0.428000													53	57					0	0	0.000781405	0	0
LRP1B	53353	broad.mit.edu	37	2	141072529	141072529	+	Silent	SNP	T	T	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:141072529T>G	ENST00000389484.3	-	83	13751	c.12780A>C	c.(12778-12780)ggA>ggC	p.G4260G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4260	EGF-like 11.				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)		CGCAAGTTCCTCCATTCTGGC	0.363000										TSP Lung(27;0.18)			13	36					0	0	0.00244969	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89100516	89100516	+	RNA	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:89100516C>T	ENST00000393525.3	+	0	1089																											attttgacttccctaaaaatc	0.343000													8	8					0	0	0.000157383	0	0
UBE3C	9690	broad.mit.edu	37	7	156967649	156967649	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:156967649C>T	ENST00000348165.5	+	5	739	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L	UBE3C_ENST00000389103.4_Silent_p.L84L	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	127					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.L127M(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACACAGCTCTCTGTTTGTCAA	0.318000													16	67					0	0	0.000422831	0	0
DNHD1	144132	broad.mit.edu	37	11	6520067	6520067	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:6520067G>A	ENST00000254579.6	+	3	1186	c.622G>A	c.(622-624)Gag>Aag	p.E208K	DNHD1_ENST00000527990.2_Missense_Mutation_p.E208K|DNHD1_ENST00000354685.3_Missense_Mutation_p.E208K	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	208					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGCCCTAGAAGAGGCTGTGTG	0.577000													16	72					0	0	0.00074312	0	0
GPR158	57512	broad.mit.edu	37	10	25701267	25701267	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:25701267C>T	ENST00000376351.3	+	4	1559	c.1200C>T	c.(1198-1200)ccC>ccT	p.P400P		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	400						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						AGGGCTGCCCCTTCTGTGCTG	0.498000													82	31					0	0	0.000781405	0	0
ARSG	22901	broad.mit.edu	37	17	66339772	66339772	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:66339772C>T	ENST00000448504.2	+	3	1042	c.246C>T	c.(244-246)tcC>tcT	p.S82S	ARSG_ENST00000452479.2_5'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	82					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGCTGCCTCCACCTGCTCAC	0.592000													7	24					0	0	0.000274275	0	0
OR2T1	26696	broad.mit.edu	37	1	248569331	248569331	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:248569331C>T	ENST00000366474.1	+	1	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			ATGTTTTCTTCCCACTTTTAA	0.294000													29	39					0	0	0.001512	0	0
MAPK3	5595	broad.mit.edu	37	16	30129013	30129013	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:30129013C>T	ENST00000484663.1	-	4	1544	c.411G>A	c.(409-411)ctG>ctA	p.L137L	MAPK3_ENST00000263025.4_Silent_p.L251L|MAPK3_ENST00000322266.5_Silent_p.L251L|MAPK3_ENST00000395199.3_Silent_p.L251L|MAPK3_ENST00000395200.1_Silent_p.L183L|MAPK3_ENST00000403394.1_Silent_p.L251L|MAPK3_ENST00000395202.1_Silent_p.L251L			P27361	MK03_HUMAN	mitogen-activated protein kinase 3	251	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding 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|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	TGAGCTGATCCAGGTAGTGCT	0.562000													12	49					0	0	0.000422831	0	0
SSPN	8082	broad.mit.edu	37	12	26383984	26383984	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:26383984C>T	ENST00000242729.2	+	3	884	c.707C>T	c.(706-708)tCc>tTc	p.S236F	SSPN_ENST00000540266.1_Missense_Mutation_p.S133F|RP11-283G6.4_ENST00000540392.1_RNA|RP11-283G6.5_ENST00000537525.1_RNA|SSPN_ENST00000535504.1_Intron|SSPN_ENST00000422622.2_Missense_Mutation_p.S133F|RP11-283G6.5_ENST00000540625.1_RNA	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	236					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					CTCACGGCTTCCGAAGGCCCC	0.453000													7	19					0	0	0.000157383	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138444552	138444552	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:138444552C>T	ENST00000310018.2	-	8	866	c.584G>A	c.(583-585)gGa>gAa	p.G195E	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G195E|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G195E	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	195					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTACACGTTTCCTCGGCAGAT	0.527000													27	21					0	0	0.00127121	0	0
BRF1	2972	broad.mit.edu	37	14	105684023	105684023	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:105684023G>C	ENST00000546474.1	-	15	16589	c.1630C>G	c.(1630-1632)Cgg>Ggg	p.R544G	BRF1_ENST00000446501.2_Missense_Mutation_p.R306G|BRF1_ENST00000440513.3_Missense_Mutation_p.R451G|BRF1_ENST00000392557.4_Missense_Mutation_p.R340G|BRF1_ENST00000327359.3_Missense_Mutation_p.R429G|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000547530.1_Missense_Mutation_p.R70G|BRF1_ENST00000379937.2_Missense_Mutation_p.R517G|BRF1_ENST00000551787.1_Intron	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	544					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CTGAGGCCCCGGAGCACGCTA	0.637000													5	3					0	0	0.00116845	0	0
CETN1	1068	broad.mit.edu	37	18	580847	580847	+	Missense_Mutation	SNP	G	G	A	rs143489830		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr18:580847G>A	ENST00000327228.3	+	1	481	c.439G>A	c.(439-441)Gac>Aac	p.D147N		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	147	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGAGATGATCGACGAAGCTGA	0.537000													27	19					0	0	0.001512	0	0
RFX4	5992	broad.mit.edu	37	12	107080830	107080830	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:107080830C>T	ENST00000392842.1	+	6	960	c.546C>T	c.(544-546)ccC>ccT	p.P182P	RFX4_ENST00000229387.5_Silent_p.P88P|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Silent_p.P191P	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	182					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CAGAATTTCCCAATGTCAAAG	0.502000													38	47					0	0	0.00195071	0	0
ZNF578	147660	broad.mit.edu	37	19	53007995	53007995	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:53007995G>A	ENST00000421239.2	+	5	395	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TTTGTACAGGGAAGTGATGTT	0.498000													40	45					0	0	0.00148497	0	0
GRIA4	2893	broad.mit.edu	37	11	105623843	105623843	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:105623843C>T	ENST00000393127.2	+	4	830	c.384C>T	c.(382-384)agC>agT	p.S128S	GRIA4_ENST00000393125.2_Silent_p.S128S|GRIA4_ENST00000428631.2_Silent_p.S128S|GRIA4_ENST00000525187.1_Silent_p.S128S|GRIA4_ENST00000282499.5_Silent_p.S128S|GRIA4_ENST00000530497.1_Silent_p.S128S	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	128					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.S128R(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AGGGGGAGAGCCAGTTTGTGC	0.473000													20	17					0	0	0.00188189	0	0
MRC2	9902	broad.mit.edu	37	17	60767588	60767588	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:60767588C>T	ENST00000303375.5	+	26	4216	c.3814C>T	c.(3814-3816)Ccc>Tcc	p.P1272S	MRC2_ENST00000446119.2_Missense_Mutation_p.P138S	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1272					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGCGTGGATTCCCTTCCGGGA	0.627000													11	17					0	0	0.000673444	0	0
LILRB2	10288	broad.mit.edu	37	19	54782706	54782706	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:54782706A>C	ENST00000391748.1	-	6	1043	c.916T>G	c.(916-918)Tgc>Ggc	p.C306G	LILRB2_ENST00000434421.1_Missense_Mutation_p.C190G|LILRB2_ENST00000391749.4_Missense_Mutation_p.C306G|LILRB2_ENST00000391746.1_Missense_Mutation_p.C306G|LILRB2_ENST00000314446.5_Missense_Mutation_p.C306G	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	306	Ig-like C2-type 3.		C -> W (in dbSNP:rs7247451).		cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGCCGAGCACTCAGAGGAG	0.662000													10	15					0	0	0.000978159	0	0
DIO2	1734	broad.mit.edu	37	14	80669401	80669401	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:80669401G>A	ENST00000557125.1	-	2	76	c.77C>T	c.(76-78)cCt>cTt	p.P26L	DIO2_ENST00000438257.4_Silent_p.S151S|DIO2_ENST00000557010.1_Silent_p.S151S|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000555750.1_Silent_p.S187S			Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	0					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAGCCACTGAGGAGAACTCTT	0.562000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	11					0	0	0.000602214	0	0
CD19	930	broad.mit.edu	37	16	28944319	28944319	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:28944319C>T	ENST00000538922.1	+	3	505	c.443C>T	c.(442-444)tCc>tTc	p.S148F	CD19_ENST00000324662.3_Missense_Mutation_p.S148F|CD19_ENST00000567541.1_Missense_Mutation_p.S148F	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	148					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						AGCTCCCCTTCCGGGAAGCTC	0.632000													4	7					0	0	0.00116845	0	0
LTF	4057	broad.mit.edu	37	3	46497363	46497363	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:46497363G>A	ENST00000231751.4	-	4	717	c.422C>T	c.(421-423)aCc>aTc	p.T141I	LTF_ENST00000426532.2_Missense_Mutation_p.T97I|LTF_ENST00000417439.1_Missense_Mutation_p.T141I	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	141	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CCATCCAGCGGTCCTGCGAAG	0.552000													13	22					0	0	0.00244969	0	0
OR52D1	390066	broad.mit.edu	37	11	5510551	5510551	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:5510551G>A	ENST00000322641.5	+	1	637	c.615G>A	c.(613-615)gtG>gtA	p.V205V	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTAACTGTGGCTCTGCTGG	0.498000													51	74					0	0	0.000781405	0	0
ADAM28	10863	broad.mit.edu	37	8	24181448	24181448	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:24181448G>A	ENST00000265769.4	+	9	932	c.822G>A	c.(820-822)gaG>gaA	p.E274E	ADAM28_ENST00000437154.2_Silent_p.E274E|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_Silent_p.E41E|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000397649.3_Silent_p.E21E	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	274	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.E274D(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TCACCTTGGAGAATTTTTCTA	0.383000													22	41					0	0	0.00278032	0	0
PKHD1	5314	broad.mit.edu	37	6	51656141	51656141	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:51656141G>A	ENST00000371117.3	-	53	8608	c.8333C>T	c.(8332-8334)cCa>cTa	p.P2778L	PKHD1_ENST00000340994.4_Missense_Mutation_p.P2778L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2778	G8 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTGAAGAATGGAAGATCTGT	0.453000													4	21					0	0	0.00024832	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444330	5444330	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:5444330G>A	ENST00000300778.4	+	1	990	c.900G>A	c.(898-900)caG>caA	p.Q300Q	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAACAAGCAGATCCAATGGG	0.423000													19	27					0	0	0.000958276	0	0
EPPK1	83481	broad.mit.edu	37	8	144945889	144945889	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:144945889C>T	ENST00000525985.1	-	2	1604	c.1533G>A	c.(1531-1533)tgG>tgA	p.W511*				P58107	EPIPL_HUMAN	epiplakin 1	511						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAGCAGCTCCCAGAGGGACA	0.652000													11	9					0	0	0.000978159	0	0
DNAH1	25981	broad.mit.edu	37	3	52356589	52356589	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:52356589G>A	ENST00000420323.2	+	2	392	c.131G>A	c.(130-132)gGa>gAa	p.G44E		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	44	Stem (By similarity).				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			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)		ATTCTTCCAGGATCAGACTAT	0.617000													11	16					0	0	0.00136819	0	0
PSG3	5671	broad.mit.edu	37	19	43237165	43237165	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:43237165C>T	ENST00000327495.5	-	3	664	c.480G>A	c.(478-480)gaG>gaA	p.E160E	PSG3_ENST00000595140.1_Silent_p.E160E	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	160	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CCTCCATGTCCTCCCTGGGGT	0.542000													50	97					0	0	0.000781405	0	0
HARS	3035	broad.mit.edu	37	5	140062741	140062741	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140062741G>A	ENST00000504366.1	-	2	1856	c.37C>T	c.(37-39)Cgt>Tgt	p.R13C	HARS_ENST00000504156.1_Missense_Mutation_p.R82C|HARS_ENST00000415192.2_Missense_Mutation_p.R82C|HARS_ENST00000307633.3_Intron|HARS_ENST00000431330.2_Intron|HARS_ENST00000438307.2_Intron|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000457527.2_Missense_Mutation_p.R82C			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	82	WHEP-TRS.				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TTGAAGCAACGGATGATTACG	0.483000													17	48					0	0	0.00074312	0	0
SH3GL3	6457	broad.mit.edu	37	15	84245343	84245343	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:84245343G>A	ENST00000324537.5	+	9	990	c.498G>A	c.(496-498)ctG>ctA	p.L166L	SH3GL3_ENST00000427482.2_Silent_p.L158L|SH3GL3_ENST00000434347.1_Silent_p.L166L|SH3GL3_ENST00000535412.1_Silent_p.L158L			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	158	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AGCATCACCTGAAAAAGCTGG	0.388000													16	21					0	0	0.00074312	0	0
TROAP	10024	broad.mit.edu	37	12	49724243	49724243	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:49724243C>G	ENST00000551245.1	+	13	1726	c.1615C>G	c.(1615-1617)Cag>Gag	p.Q539E	TROAP_ENST00000257909.3_Missense_Mutation_p.Q539E|TROAP_ENST00000547923.1_Missense_Mutation_p.Q247E			Q12815	TROAP_HUMAN	trophinin associated protein	539	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GCCCTCCCTCCAGGAACAGCT	0.632000													26	22					0	0	0.000720815	0	0
PTPRT	11122	broad.mit.edu	37	20	40748607	40748607	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:40748607T>C	ENST00000373198.3	-	21	3153	c.2918A>G	c.(2917-2919)tAc>tGc	p.Y973C	PTPRT_ENST00000373184.1_Missense_Mutation_p.Y941C|PTPRT_ENST00000373187.1_Missense_Mutation_p.Y951C|PTPRT_ENST00000356100.2_Missense_Mutation_p.Y960C|PTPRT_ENST00000373190.1_Missense_Mutation_p.Y950C|PTPRT_ENST00000373193.3_Missense_Mutation_p.Y954C|PTPRT_ENST00000373201.1_Missense_Mutation_p.Y941C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	951	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGTCGATGGTATCCCTGGAT	0.488000													5	81					0	0	0.00116845	0	0
RGS7BP	401190	broad.mit.edu	37	5	63894231	63894231	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:63894231G>A	ENST00000334025.2	+	5	977	c.651G>A	c.(649-651)agG>agA	p.R217R		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	217					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		GCAAACTCAGGGAAACTATGC	0.333000													67	96					0	0	0.000781405	0	0
GLG1	2734	broad.mit.edu	37	16	74524922	74524922	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:74524922G>A	ENST00000422840.2	-	8	1425	c.1426C>T	c.(1426-1428)Ctt>Ttt	p.L476F	GLG1_ENST00000447066.2_Missense_Mutation_p.L465F|GLG1_ENST00000205061.5_Missense_Mutation_p.L476F	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	476						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTCATTCCAAGGTTCCCCTTC	0.498000													12	48					0	0	0.00244969	0	0
PLD1	5337	broad.mit.edu	37	3	171427469	171427469	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:171427469T>G	ENST00000356327.5	-	10	1012	c.942A>C	c.(940-942)agA>agC	p.R314S	PLD1_ENST00000351298.4_Missense_Mutation_p.R314S|PLD1_ENST00000342215.6_Missense_Mutation_p.R314S|PLD1_ENST00000340989.4_Missense_Mutation_p.R314S	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	314	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACCGAGCATGTCTATAGCTGT	0.388000													24	53					0	0	0.000586117	0	0
LGR5	8549	broad.mit.edu	37	12	71898435	71898435	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:71898435C>T	ENST00000266674.5	+	2	565	c.254C>T	c.(253-255)cCc>cTc	p.P85L	LGR5_ENST00000536515.1_Missense_Mutation_p.P85L|LGR5_ENST00000540815.2_Missense_Mutation_p.P85L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	85						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTCCCGAATCCCCTGCCCAGT	0.507000													34	100					0	0	0.000814825	0	0
KIAA1755	85449	broad.mit.edu	37	20	36867950	36867950	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:36867950G>A	ENST00000279024.4	-	4	1998	c.1727C>T	c.(1726-1728)tCc>tTc	p.S576F		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	576										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)				TGCTATCCTGGAGCGGAAAAC	0.637000													11	25					0	0	0.00185496	0	0
CRMP1	1400	broad.mit.edu	37	4	5841406	5841406	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:5841406C>T	ENST00000324989.7	-	9	1242		c.e9-1		CRMP1_ENST00000512574.1_Splice_Site|CRMP1_ENST00000397890.2_Splice_Site|CRMP1_ENST00000511535.1_Splice_Site	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1						axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			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)		ACTAGGGGCCCTTAGGAGGGG	0.547000													6	1					0	0	0.00116845	0	0
ZBP1	81030	broad.mit.edu	37	20	56185227	56185227	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:56185227C>T	ENST00000340462.4	-	6	1282	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E	ZBP1_ENST00000371173.3_Silent_p.E357E|ZBP1_ENST00000395822.3_Silent_p.E282E|ZBP1_ENST00000343535.4_Silent_p.E357E			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	357						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTGGCTCCCCCTCTCCAGACC	0.587000													19	64					0	0	0.00121646	0	0
STXBP5L	9515	broad.mit.edu	37	3	120976086	120976086	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:120976086C>T	ENST00000273666.6	+	17	2009	c.1738C>T	c.(1738-1740)Ctc>Ttc	p.L580F	STXBP5L_ENST00000471454.1_Missense_Mutation_p.L580F|STXBP5L_ENST00000492541.1_Missense_Mutation_p.L580F|STXBP5L_ENST00000497029.1_Missense_Mutation_p.L580F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.L580F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	580					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GTTTCCAGATCTCTCAGCCCA	0.403000													40	58					0	0	0.00222228	0	0
HLA-DRB6	3128	broad.mit.edu	37	6	32521655	32521655	+	RNA	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:32521655G>A	ENST00000411500.1	-	0	828					NR_001298.1																						TGAAGTAGATGAACAGCCCTG	0.512000													4	3					0	0	0.00024832	0	0
NPAP1	23742	broad.mit.edu	37	15	24922388	24922388	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:24922388C>T	ENST00000329468.2	+	1	1848	c.1374C>T	c.(1372-1374)atC>atT	p.I458I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CATTCACAATCCCTAACTCTC	0.498000													24	43					0	0	0.00278032	0	0
BUD13	84811	broad.mit.edu	37	11	116633303	116633303	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:116633303G>A	ENST00000260210.4	-	4	1025	c.1002C>T	c.(1000-1002)tcC>tcT	p.S334S	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	334										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTCCAAAATGGGATTTTGCTT	0.448000													82	262					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179402191	179402191	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:179402191G>T	ENST00000589042.1	-	355	99967	c.99743C>A	c.(99742-99744)aCt>aAt	p.T33248N	TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T31607N|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T24375N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T24183N|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T24308N|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T30680N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31607							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)			ATAGTGCTCAGTGTTTTCAAT	0.413000													8	24					0.000274275	0.00114163	0.000274275	1	0
LRRK1	79705	broad.mit.edu	37	15	101593484	101593484	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:101593484C>T	ENST00000284395.5	+	27	4304	c.3904C>T	c.(3904-3906)Cgg>Tgg	p.R1302W	LRRK1_ENST00000388948.3_Missense_Mutation_p.R1305W|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1305	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCCGAGTTCCGGCAGGAGGC	0.662000													8	15					0	0	0.000157383	0	0
FSIP2	401024	broad.mit.edu	37	2	186670672	186670672	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:186670672A>C	ENST00000343098.5	+	17	16906	c.16906A>C	c.(16906-16908)Agt>Cgt	p.S5636R	FSIP2_ENST00000424728.1_Missense_Mutation_p.S5547R	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CACTGTGAAAAGTAAAGATAC	0.289000													41	58					0	0	0.00170553	0	0
HPD	3242	broad.mit.edu	37	12	122295688	122295688	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:122295688G>A	ENST00000289004.4	-	3	103	c.68C>T	c.(67-69)aCc>aTc	p.T23I	HPD_ENST00000543163.1_5'UTR	NM_002150.2	NP_002141.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	23					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	AACCCAGAAGGTCACAGAGTG	0.602000													9	12					0	0	0.000673444	0	0
DEFB112	245915	broad.mit.edu	37	6	50016297	50016297	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:50016297G>A	ENST00000322246.4	-	1	67	c.68C>T	c.(67-69)tCc>tTc	p.S23F		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	23					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					AAATATTGTGGAAGATGTATT	0.333000													24	43					0	0	0.00106085	0	0
PHF13	148479	broad.mit.edu	37	1	6680321	6680321	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:6680321C>T	ENST00000377648.4	+	3	982	c.600C>T	c.(598-600)atC>atT	p.I200I	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	200					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		AACGGACTATCGTCCGGCAGG	0.537000													14	31					0	0	0.00185496	0	0
OR2T34	127068	broad.mit.edu	37	1	248737705	248737705	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:248737705G>A	ENST00000328782.2	-	1	375	c.354C>T	c.(352-354)ttC>ttT	p.F118F		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			CAGCCAGGAGGAAAACCTCAG	0.562000													20	24					0	0	0.000720815	0	0
CNTN5	53942	broad.mit.edu	37	11	100170080	100170080	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:100170080G>A	ENST00000524871.1	+	20	2862	c.2572G>A	c.(2572-2574)Gga>Aga	p.G858R	CNTN5_ENST00000279463.3_Missense_Mutation_p.G858R|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.G784R|CNTN5_ENST00000528682.1_Missense_Mutation_p.G858R|CNTN5_ENST00000527185.1_Missense_Mutation_p.G858R	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	858	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			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)		TAACAATAAAGGAGATGGGCC	0.348000													14	51					0	0	0.000422831	0	0
WWP2	11060	broad.mit.edu	37	16	69965107	69965107	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:69965107C>T	ENST00000359154.2	+	14	1599	c.1498C>T	c.(1498-1500)Cac>Tac	p.H500Y	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Missense_Mutation_p.H500Y|WWP2_ENST00000568684.1_Missense_Mutation_p.H61Y|WWP2_ENST00000448661.1_Missense_Mutation_p.H500Y|WWP2_ENST00000542271.1_Missense_Mutation_p.H384Y	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	500					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGGAAGTATCACCAGTTCCG	0.507000													18	46					0	0	0.00152264	0	0
TMEM61	199964	broad.mit.edu	37	1	55451846	55451846	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:55451846G>A	ENST00000371268.3	+	2	366	c.92G>A	c.(91-93)gGg>gAg	p.G31E	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	31						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						CTGGTGGCCGGGACGCTCTGC	0.657000													30	21					0	0	0.00178596	0	0
SPATA17	128153	broad.mit.edu	37	1	217947879	217947879	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:217947879G>A	ENST00000366933.4	+	7	778	c.723_splice	c.e7+1	p.Q241_splice		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	241						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGCAATGTCAGGTACTAGTTT	0.333000													12	10					0	0	0.000978159	0	0
MICALCL	84953	broad.mit.edu	37	11	12315214	12315214	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:12315214C>T	ENST00000256186.2	+	3	527	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	79	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AGGGAAATTCCCCTGTATCTG	0.582000													24	85					0	0	0.000720815	0	0
PBX1	5087	broad.mit.edu	37	1	164769100	164769100	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:164769100C>T	ENST00000420696.2	+	4	863	c.675C>T	c.(673-675)atC>atT	p.I225I	PBX1_ENST00000540246.1_Silent_p.I120I|PBX1_ENST00000540236.1_Silent_p.I225I|PBX1_ENST00000367897.1_Silent_p.I225I|PBX1_ENST00000560641.1_Silent_p.I120I|PBX1_ENST00000401534.1_Silent_p.I225I|PBX1_ENST00000559240.1_Silent_p.I225I	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	225					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CGGTGATGATCCTGCGTTCCC	0.612000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								12	23					0	0	0.000978159	0	0
LAMB4	22798	broad.mit.edu	37	7	107692596	107692596	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:107692596C>T	ENST00000388781.3	-	26	3945	c.3862G>A	c.(3862-3864)Gac>Aac	p.D1288N	LAMB4_ENST00000388780.3_Missense_Mutation_p.D1288N|LAMB4_ENST00000205386.4_Missense_Mutation_p.D1288N	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1288	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCCTGAAGGTCTTCAAGTAAG	0.368000													52	40					0	0	0.000781405	0	0
GRAP	10750	broad.mit.edu	37	17	18925352	18925352	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:18925352C>T	ENST00000284154.5	-	5	1284	c.574G>A	c.(574-576)Gac>Aac	p.D192N	SLC5A10_ENST00000317977.6_3'UTR|GRAP_ENST00000573099.1_Silent_p.Q135Q|GRAP_ENST00000395635.1_Missense_Mutation_p.D163N	NM_006613.3	NP_006604.1	Q13588	GRAP_HUMAN	GRB2-related adaptor protein	192	SH3 2.				cell-cell signaling|Ras protein signal transduction	cytoplasm	SH3/SH2 adaptor activity			large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					CAGTGGGGGTCTGGGCGCTCC	0.687000													3	9					0	0	6.4e-05	0	0
RPS18	6222	broad.mit.edu	37	6	33243639	33243639	+	Silent	SNP	G	G	A	rs142232404	by1000genomes	TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:33243639G>A	ENST00000439602.2	+	3	278	c.168G>A	c.(166-168)gcG>gcA	p.A56A	RPS18_ENST00000476222.1_3'UTR|RPS18_ENST00000474973.1_5'UTR			P62269	RS18_HUMAN	ribosomal protein S18	56					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						CCAAGAGGGCGGGAGAACTCA	0.552000													12	66					0	0	0.000978159	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	28					0	0	0.000878237	0	0
TREML1	340205	broad.mit.edu	37	6	41117417	41117417	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:41117417C>T	ENST00000426005.2	-	6	904	c.861G>A	c.(859-861)ccG>ccA	p.P287P	TREML1_ENST00000437044.2_Silent_p.P176P|TREML1_ENST00000373127.4_3'UTR	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	287					calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGTTCCCTCCCGGGAAGATTA	0.537000													28	34					0	0	0.00127121	0	0
FES	2242	broad.mit.edu	37	15	91432627	91432627	+	Missense_Mutation	SNP	C	C	G	rs149847085	by1000genomes	TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:91432627C>G	ENST00000328850.3	+	6	902	c.760C>G	c.(760-762)Cgc>Ggc	p.R254G	FES_ENST00000414248.2_Missense_Mutation_p.R196G|FES_ENST00000444422.2_Missense_Mutation_p.R254G|FES_ENST00000450438.2_Missense_Mutation_p.R196G|FES_ENST00000394300.3_Missense_Mutation_p.R196G|FES_ENST00000394302.1_Missense_Mutation_p.R196G	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	254	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGCTGCTGCCCGCATCCAGCC	0.632000													81	98					0	0	0.000781405	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261885	125261885	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:125261885C>T	ENST00000431078.1	+	8	1440	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	359	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTCACTTTTTCCTGCTCCGAA	0.463000													21	48					0	0	0.00278032	0	0
SIM1	6492	broad.mit.edu	37	6	100841464	100841464	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:100841464C>T	ENST00000369208.3	-	11	2251	c.1469G>A	c.(1468-1470)tGg>tAg	p.W490*	SIM1_ENST00000262901.4_Nonsense_Mutation_p.W490*			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	490	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.W490L(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GCGAGAGCCCCACCAGGGCTC	0.607000													28	17					0	0	0.00127121	0	0
CACNA1D	776	broad.mit.edu	37	3	53845310	53845310	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:53845310C>T	ENST00000288139.3	+	49	6541	c.6423C>T	c.(6421-6423)ccC>ccT	p.P2141P	CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000350061.5_Silent_p.P2121P|CACNA1D_ENST00000422281.2_Silent_p.P2097P	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2121					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATGTGGGCCCCCTCTCACACC	0.612000													13	31					0	0	0.00185496	0	0
JAG2	3714	broad.mit.edu	37	14	105609037	105609037	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:105609037C>T	ENST00000331782.3	-	26	4115	c.3712G>A	c.(3712-3714)Gag>Aag	p.E1238K	JAG2_ENST00000347004.2_Missense_Mutation_p.E1200K	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1238					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CGCCCCTACTCCTTGCCGGCG	0.706000													3	4					0	0	0.00024832	0	0
ABL2	27	broad.mit.edu	37	1	179095764	179095764	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:179095764C>T	ENST00000502732.1	-	4	638	c.435G>A	c.(433-435)tgG>tgA	p.W145*	ABL2_ENST00000504405.1_Nonsense_Mutation_p.W109*|ABL2_ENST00000344730.3_Nonsense_Mutation_p.W130*|ABL2_ENST00000512653.1_Nonsense_Mutation_p.W130*|ABL2_ENST00000392043.3_Nonsense_Mutation_p.W124*|ABL2_ENST00000511413.1_Nonsense_Mutation_p.W145*|ABL2_ENST00000367623.4_Nonsense_Mutation_p.W124*|ABL2_ENST00000408940.3_Nonsense_Mutation_p.W109*|ABL2_ENST00000507173.1_Nonsense_Mutation_p.W124*	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	145	SH3.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GAACTTCACTCCACTCACCAT	0.473000			T	ETV6	AML								26	16					0	0	0.000878237	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293629	71293629	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:71293629G>A	ENST00000398530.1	-	1	292	c.255C>T	c.(253-255)tcC>tcT	p.S85S	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	85	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TACAGCAGTTGGACTGGGAGC	0.622000													10	43					0	0	0.000442599	0	0
TTN	7273	broad.mit.edu	37	2	179647676	179647676	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:179647676G>A	ENST00000589042.1	-	18	3181	c.2957C>T	c.(2956-2958)tCc>tTc	p.S986F	TTN_ENST00000591111.1_Missense_Mutation_p.S986F|TTN_ENST00000342175.6_Missense_Mutation_p.S940F|TTN_ENST00000460472.2_Missense_Mutation_p.S940F|TTN_ENST00000360870.5_Missense_Mutation_p.S986F|TTN_ENST00000359218.5_Missense_Mutation_p.S940F|TTN_ENST00000342992.6_Missense_Mutation_p.S986F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	986	Ig-like 3.						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)			GAAGTCAATGGAACTTTCGAT	0.473000													23	39					0	0	0.000720815	0	0
TAF1L	138474	broad.mit.edu	37	9	32631964	32631964	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:32631964C>T	ENST00000242310.4	-	1	3703	c.3614G>A	c.(3613-3615)cGa>cAa	p.R1205Q		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1205					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGCTGGTTTTCGGACTGTCTC	0.423000													37	57					0	0	0.00222228	0	0
CAPN2	824	broad.mit.edu	37	1	223939704	223939704	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:223939704C>T	ENST00000295006.5	+	8	1214	c.905C>T	c.(904-906)cCa>cTa	p.P302L	CAPN2_ENST00000433674.2_Missense_Mutation_p.P224L	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	302	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TCCAGCTGCCCAAGCTGGAAC	0.507000													16	22					0	0	0.000422831	0	0
OR4N5	390437	broad.mit.edu	37	14	20612380	20612380	+	Silent	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:20612380T>C	ENST00000333629.1	+	1	486	c.486T>C	c.(484-486)ctT>ctC	p.L162L		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		AAGTAGCCCTTATCCTGCACT	0.478000													23	52					0	0	0.00229938	0	0
GLI2	2736	broad.mit.edu	37	2	121726354	121726354	+	Silent	SNP	C	C	T	rs142322049		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:121726354C>T	ENST00000452319.1	+	6	768	c.708C>T	c.(706-708)tcC>tcT	p.S236S	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Silent_p.S236S|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	236					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			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)				TGTCCATCTCCCCACTCTCAG	0.637000													26	41					0	0	0.00106085	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85165263	85165263	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:85165263C>T	ENST00000448803.2	+	3	2129	c.1837C>T	c.(1837-1839)Ctt>Ttt	p.L613F	ZSCAN2_ENST00000327179.6_Missense_Mutation_p.L612F|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.L463F|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.L613F|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000485222.2_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	613					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GAAAGAGAAACTTTATTGAAG	0.493000													27	24					0	0	0.000720815	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136159	40136159	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:40136159G>T	ENST00000278198.2	-	2	3647	c.1684C>A	c.(1684-1686)Cca>Aca	p.P562T	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P562T|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P562T|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P562T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	562					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTCCTTGTTGGGGCGTGATGG	0.493000													19	34					9.7654e-05	0.00040814	0.000958276	1	0
DNAJC13	23317	broad.mit.edu	37	3	132211368	132211368	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:132211368C>A	ENST00000260818.6	+	33	3982	c.3734C>A	c.(3733-3735)cCa>cAa	p.P1245Q		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1245							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATCAACTATCCACAACTCGAA	0.403000													7	305					0.00198382	0.00817923	0.00198382	1	0
PCK1	5105	broad.mit.edu	37	20	56138761	56138761	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:56138761C>T	ENST00000319441.4	+	6	1103	c.939C>T	c.(937-939)gcC>gcT	p.A313A	PCK1_ENST00000535860.1_Silent_p.A181A|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	313					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATGACATTGCCTGGATGAAGT	0.557000													25	48					0	0	0.000720815	0	0
PCLO	27445	broad.mit.edu	37	7	82545849	82545849	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:82545849T>G	ENST00000423517.2	-	7	11790	c.11453A>C	c.(11452-11454)aAg>aCg	p.K3818T	PCLO_ENST00000333891.8_Missense_Mutation_p.K3818T|PCLO_ENST00000437081.1_Missense_Mutation_p.K538T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3749	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			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						TCGTTCTCTCTTTTCTCTCTC	0.453000													40	37					0	0	0.00148497	0	0
GAMT	2593	broad.mit.edu	37	19	1398961	1398961	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:1398961C>T	ENST00000447102.3	-	5	617	c.524G>A	c.(523-525)gGg>gAg	p.G175E	GAMT_ENST00000252288.2_Missense_Mutation_p.G175E	NM_138924.2	NP_620279.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase	175					creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|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)	Creatine(DB00148)	CATCAGCTCCCCCCAGGAGGT	0.607000													14	25					0	0	0.000308642	0	0
GPR116	221395	broad.mit.edu	37	6	46828470	46828470	+	Silent	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:46828470T>C	ENST00000283296.7	-	16	2649	c.2361A>G	c.(2359-2361)gtA>gtG	p.V787V	GPR116_ENST00000362015.4_Silent_p.V787V|GPR116_ENST00000545669.1_Silent_p.V216V|GPR116_ENST00000456426.2_Silent_p.V645V|GPR116_ENST00000265417.7_Silent_p.V787V	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	787					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTTCTGAATTTACTTGGGTTG	0.418000													10	35					0	0	0.000673444	0	0
CHST4	10164	broad.mit.edu	37	16	71570949	71570949	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:71570949C>T	ENST00000338482.5	+	3	712	c.369C>T	c.(367-369)ctC>ctT	p.L123L	RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000539698.3_Silent_p.L123L|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Silent_p.L123L			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	123					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						AGTCCAGCCTCTTTCAGTGGG	0.582000													6	38					0	0	0.000274275	0	0
GNA12	2768	broad.mit.edu	37	7	2771124	2771124	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:2771124G>A	ENST00000275364.3	-	4	999	c.837C>T	c.(835-837)acC>acT	p.T279T	GNA12_ENST00000407653.1_Silent_p.T203T|GNA12_ENST00000544127.1_Silent_p.T186T|GNA12_ENST00000407904.3_Silent_p.T220T|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000396960.3_Silent_p.T131T|AMZ1_ENST00000489665.1_Intron	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	279					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		TGTTGACGATGGTCTCGAAGA	0.537000													39	37					0	0	0.000953801	0	0
GPR151	134391	broad.mit.edu	37	5	145894714	145894714	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:145894714C>T	ENST00000311104.2	-	1	1039	c.963G>A	c.(961-963)tgG>tgA	p.W321*		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	321						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATCCATTTCCATACACCTT	0.448000													14	29					0	0	0.00185496	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528517	6528517	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:6528517G>A	ENST00000377748.1	-	21	3107	c.2610C>T	c.(2608-2610)gcC>gcT	p.A870A	PLEKHG5_ENST00000400913.1_Silent_p.A793A|PLEKHG5_ENST00000377728.3_Silent_p.A793A|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000544978.1_Silent_p.A793A|PLEKHG5_ENST00000535355.1_Silent_p.A862A|PLEKHG5_ENST00000377732.1_Silent_p.A830A|PLEKHG5_ENST00000537245.1_Silent_p.A872A|PLEKHG5_ENST00000377725.1_Silent_p.A793A|PLEKHG5_ENST00000377737.2_Silent_p.A793A|PLEKHG5_ENST00000340850.5_Silent_p.A793A|PLEKHG5_ENST00000400915.3_Silent_p.A849A	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	849					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TGGCAGATGAGGCAGTGGTGC	0.647000													10	13					0	0	0.000442599	0	0
OR7D4	125958	broad.mit.edu	37	19	9325290	9325290	+	Missense_Mutation	SNP	G	G	A	rs5020281		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:9325290G>A	ENST00000308682.2	-	1	252	c.224C>T	c.(223-225)tCc>tTc	p.S75F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	75			S -> C (in dbSNP:rs5020281).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GACTGTGGTGGAGATGAAACA	0.502000													17	34					0	0	0.000566183	0	0
ZNF205	7755	broad.mit.edu	37	16	3169264	3169264	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:3169264C>T	ENST00000382192.3	+	7	808	c.603C>T	c.(601-603)gtC>gtT	p.V201V	RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.V201V	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						CAGGAGCCGTCGAGGTGGGGC	0.617000													12	36					0	0	0.000422831	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22433750	22433750	+	RNA	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:22433750G>A	ENST00000390442.3	+	0	71																											TGAAATCCTTGAGAGTTTTAC	0.353000													14	28					0	0	0.000308642	0	0
RRM2	6241	broad.mit.edu	37	2	10267090	10267090	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:10267090A>C	ENST00000360566.2	+	6	1129	c.838A>C	c.(838-840)Acc>Ccc	p.T280P	RRM2_ENST00000304567.5_Missense_Mutation_p.T220P	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	220					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		CAAAGAGGCTACCTATGGTAA	0.458000													17	59					0	0	0.00074312	0	0
MYH8	4626	broad.mit.edu	37	17	10304037	10304037	+	Silent	SNP	C	C	T	rs78443907	by1000genomes	TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:10304037C>T	ENST00000403437.2	-	27	3499	c.3405G>A	c.(3403-3405)gcG>gcA	p.A1135A	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1135					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			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						GCTGCTTCTCCGCTTTGGCTC	0.557000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				33	18					0	0	0.00058488	0	0
OR7E24	26648	broad.mit.edu	37	19	9362280	9362280	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:9362280C>T	ENST00000456448.1	+	1	675	c.561C>T	c.(559-561)ttC>ttT	p.F187F		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCACCTGCTTCAAGGATGTGG	0.408000													11	27					0	0	0.000673444	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686389	108686389	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:108686389G>A	ENST00000312143.7	-	3	714	c.351C>T	c.(349-351)ttC>ttT	p.F117F	CMKLR1_ENST00000552995.1_Silent_p.F115F|CMKLR1_ENST00000412676.1_Silent_p.F117F|CMKLR1_ENST00000397688.2_Silent_p.F115F|CMKLR1_ENST00000550402.1_Silent_p.F117F	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	117					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GGATGAGAAGGAAGTTGCTGA	0.532000													6	34					0	0	0.00116845	0	0
ATP2A3	489	broad.mit.edu	37	17	3856723	3856723	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:3856723C>T	ENST00000309890.7	-	3	287	c.136_splice	c.e3-1	p.G46_splice	ATP2A3_ENST00000397041.3_Splice_Site_p.G46_splice|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Splice_Site_p.G46_splice|ATP2A3_ENST00000397035.3_Splice_Site_p.G46_splice|ATP2A3_ENST00000352011.3_Splice_Site_p.G46_splice|ATP2A3_ENST00000359983.3_Splice_Site_p.G46_splice	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	46					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			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)		CAGGGACTTCCCTGGGAACGG	0.652000													4	16					0	0	0.00024832	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833006	101833006	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:101833006A>G	ENST00000263468.8	+	6	1510	c.1240A>G	c.(1240-1242)Aca>Gca	p.T414A	KIAA1377_ENST00000537689.1_Missense_Mutation_p.T215A	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	414							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGAGAGCCCAACATTTAAATT	0.373000													18	24					0	0	0.000958276	0	0
DENND4A	10260	broad.mit.edu	37	15	65962216	65962216	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:65962216G>A	ENST00000443035.3	-	27	4900	c.4685C>T	c.(4684-4686)tCc>tTc	p.S1562F	DENND4A_ENST00000431932.2_Missense_Mutation_p.S1519F	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGAAATGGAGGATGGAAAGTG	0.388000													23	21					0	0	0.00106085	0	0
CCDC88A	55704	broad.mit.edu	37	2	55566693	55566693	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:55566693G>A	ENST00000436346.1	-	13	2266	c.1425C>T	c.(1423-1425)acC>acT	p.T475T	AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Silent_p.T475T|CCDC88A_ENST00000413716.2_Silent_p.T475T|CCDC88A_ENST00000263630.8_Silent_p.T475T|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	475					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GCTCTTCTACGGTTTTTGTCA	0.378000													15	42					0	0	0.00244969	0	0
TLE1	7088	broad.mit.edu	37	9	84225190	84225190	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:84225190G>A	ENST00000376499.3	-	14	2340	c.1276C>T	c.(1276-1278)Cac>Tac	p.H426Y	TLE1_ENST00000376472.1_Missense_Mutation_p.H101Y|TLE1_ENST00000376484.1_Missense_Mutation_p.H101Y	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	426	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ACTCTCATGTGAGGGGGAGGA	0.448000													19	23					0	0	0.00121646	0	0
ZNF638	27332	broad.mit.edu	37	2	71591243	71591243	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:71591243C>T	ENST00000409544.1	+	5	2208	c.1578C>T	c.(1576-1578)tgC>tgT	p.C526C	ZNF638_ENST00000264447.4_Silent_p.C526C|ZNF638_ENST00000355812.3_Silent_p.C526C|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Silent_p.C526C	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	526	Arg-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CAAGAATTTGCCATCGTTTCA	0.428000													22	33					0	0	0.00188189	0	0
TNXB	7148	broad.mit.edu	37	6	32036906	32036906	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:32036906C>T	ENST00000375244.3	-	16	5796	c.5595G>A	c.(5593-5595)agG>agA	p.R1865R	TNXB_ENST00000375247.2_Silent_p.R1865R			P22105	TENX_HUMAN	tenascin XB	1947	Fibronectin type-III 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCGTTTCTTCCCTGCCGGCTG	0.632000													21	134					0	0	0.00058488	0	0
NBPF1	55672	broad.mit.edu	37	1	16892226	16892226	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:16892226G>A	ENST00000430580.2	-	27	3853	c.2966C>T	c.(2965-2967)cCt>cTt	p.P989L		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	989	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACAACTGGAAGGAGTTGAATA	0.473000													84	1129					0	0	0.000781405	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279336	73279336	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:73279336G>A	ENST00000320531.2	+	2	122	c.86G>A	c.(85-87)cGa>cAa	p.R29Q		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	29						integral to membrane		p.R29I(1)		breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GTTCAGAACCGAGATCACCTC	0.512000													63	270					0	0	0.000781405	0	0
RNPEP	6051	broad.mit.edu	37	1	201970811	201970811	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:201970811C>T	ENST00000295640.4	+	8	1385	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Nonsense_Mutation_p.R409*|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	448					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		ATTCAAATTCCGAAGCATCTT	0.493000													67	81					0	0	0.000781405	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37451602	37451602	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:37451602C>T	ENST00000374660.1	+	16	1857	c.1758C>T	c.(1756-1758)ttC>ttT	p.F586F	ANKRD30A_ENST00000602533.1_Silent_p.F586F|ANKRD30A_ENST00000361713.1_Silent_p.F586F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	642						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.F586L(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATCTGCCTTCGAGGTATTTA	0.328000													40	34					0	0	0.000680045	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045005	55045005	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:55045005G>A	ENST00000335056.3	+	3	163	c.125G>A	c.(124-126)gGa>gAa	p.G42E																	endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GTTCCCCTAGGAGGACGTGTG	0.552000													10	33					0	0	0.000978159	0	0
PTGFRN	5738	broad.mit.edu	37	1	117487403	117487403	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:117487403C>T	ENST00000393203.2	+	3	668	c.521C>T	c.(520-522)gCc>gTc	p.A174V		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	174	Ig-like C2-type 2.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GCCGCCTCCGCCTCGCCGCTG	0.781000													3	2					0	0	6.4e-05	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881545	228881545	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:228881545G>A	ENST00000392056.3	-	7	4071	c.4025C>T	c.(4024-4026)tCg>tTg	p.S1342L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1342L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1342						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCTGCTTGCGAGGGAGAGCC	0.522000													16	31					0	0	0.000308642	0	0
ALB	213	broad.mit.edu	37	4	74277741	74277741	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:74277741C>T	ENST00000295897.4	+	7	831	c.742C>T	c.(742-744)Ccc>Tcc	p.P248S	ALB_ENST00000509063.1_Missense_Mutation_p.P248S|ALB_ENST00000401494.3_Missense_Mutation_p.P133S|ALB_ENST00000503124.1_Missense_Mutation_p.P98S|ALB_ENST00000415165.2_Missense_Mutation_p.P56S|ALB_ENST00000505649.1_3'UTR	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	248	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			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)	CCAGAGATTTCCCAAAGCTGA	0.413000													44	25					0	0	0.000781405	0	0
SLC9C2	284525	broad.mit.edu	37	1	173567103	173567103	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:173567103T>A	ENST00000367714.3	-	4	719	c.297A>T	c.(295-297)ttA>ttT	p.L99F	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	99					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TAAATATAATTAAAGGTGAAA	0.303000													47	69					0	0	0.000781405	0	0
LGR4	55366	broad.mit.edu	37	11	27390105	27390105	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:27390105G>C	ENST00000379214.4	-	18	2608	c.2165C>G	c.(2164-2166)gCc>gGc	p.A722G	LGR4_ENST00000389858.4_Missense_Mutation_p.A698G	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	722						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GTAGATAACGGCCATTAATAA	0.398000													38	45					0	0	0.00170553	0	0
FAM83B	222584	broad.mit.edu	37	6	54806173	54806173	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:54806173A>G	ENST00000306858.7	+	5	2520	c.2404A>G	c.(2404-2406)Agt>Ggt	p.S802G		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	802										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TAGATTGTGTAGTAGCTCTGA	0.363000													5	42					0	0	0.000157383	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532579	84532579	+	RNA	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:84532579C>T	ENST00000527857.1	+	0	2601					NR_026851.1																						GTGCATAGTTCATGGCACTCA	0.433000													19	39					0	0	0.00121646	0	0
OR2T2	401992	broad.mit.edu	37	1	248616389	248616389	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:248616389C>T	ENST00000342927.3	+	1	313	c.291C>T	c.(289-291)ggC>ggT	p.G97G		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			CCTTCCTGGGCTGTGCAGTTC	0.532000													51	176					0	0	0.000781405	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257784	41257784	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:41257784C>T	ENST00000307221.4	-	1	346	c.215G>A	c.(214-216)gGa>gAa	p.G72E	XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	72					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TCCGTTTAATCCTTCTGTGCC	0.358000													154	38					0	0	0.000781405	0	0
ZNF408	79797	broad.mit.edu	37	11	46726247	46726247	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:46726247C>T	ENST00000311764.2	+	5	1227	c.997C>T	c.(997-999)Cct>Tct	p.P333S		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTCTGGCTTCCCTACACTCTC	0.632000													22	16					0	0	0.00188189	0	0
SERPINB3	6317	broad.mit.edu	37	18	61322896	61322896	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr18:61322896G>A	ENST00000283752.5	-	8	1311	c.1168C>T	c.(1168-1170)Ccg>Tcg	p.P390S	SERPINB3_ENST00000332821.8_Missense_Mutation_p.P338S|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	390					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGCATCTACGGGGATGAGAAT	0.398000													55	32					0	0	0.000781405	0	0
ZNF573	126231	broad.mit.edu	37	19	38230580	38230580	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:38230580C>T	ENST00000339503.4	-	8	1138	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	ZNF573_ENST00000392138.1_Missense_Mutation_p.E184K|ZNF573_ENST00000590414.2_Missense_Mutation_p.E271K|ZNF573_ENST00000357309.3_Missense_Mutation_p.E183K|ZNF573_ENST00000536220.1_Missense_Mutation_p.E183K	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TATGGTTTTTCGCCAGTATGA	0.428000													27	44					0	0	0.00106085	0	0
ZFHX3	463	broad.mit.edu	37	16	72821201	72821201	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:72821201G>A	ENST00000268489.5	-	10	11646	c.10974C>T	c.(10972-10974)gaC>gaT	p.D3658D	ZFHX3_ENST00000397992.5_Silent_p.D2744D	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3658					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCGAATAGTCGTCTGTTGGCA	0.597000													45	47					0	0	0.0025221	0	0
ADCK3	56997	broad.mit.edu	37	1	227152968	227152968	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:227152968C>T	ENST00000366779.1	+	8	3216	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S	ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366775.1_5'UTR|ADCK3_ENST00000366778.1_Missense_Mutation_p.P97S|ADCK3_ENST00000366776.1_Missense_Mutation_p.P74S|ADCK3_ENST00000366777.3_Missense_Mutation_p.P149S			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	149					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CTTTGCAAACCCCAGAGACTC	0.627000													7	14					0	0	0.000157383	0	0
MUC3A	4584	broad.mit.edu	37	7	100608884	100608884	+	Missense_Mutation	SNP	G	G	A	rs73163797	by1000genomes	TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:100608884G>A	ENST00000319509.7	+	7	2263	c.2263G>A	c.(2263-2265)Gcg>Acg	p.A755T	RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated									p.A755T(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GAGCGGTCCCGCGTGTCGGTA	0.667000													5	11					0	0	0.000978159	0	0
SPOCD1	90853	broad.mit.edu	37	1	32265727	32265727	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:32265727G>A	ENST00000360482.2	-	5	1747	c.1618C>T	c.(1618-1620)Cct>Tct	p.P540S	SPOCD1_ENST00000533231.1_Missense_Mutation_p.P540S|SPOCD1_ENST00000257100.3_Missense_Mutation_p.P33S|SPOCD1_ENST00000373648.2_Missense_Mutation_p.P481S	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	540					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCTCCTGAAGGAGAAGGCTGG	0.642000													9	5					0	0	0.000274275	0	0
DSCAM	1826	broad.mit.edu	37	21	41668072	41668072	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr21:41668072C>T	ENST00000400454.1	-	10	2569	c.2092G>A	c.(2092-2094)Gac>Aac	p.D698N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	698	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCGTCCTGGTCCCGTGGCTGA	0.433000													21	24					0	0	0.00152264	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967660	41967660	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:41967660C>T	ENST00000298919.7	+	10	2687	c.2299C>T	c.(2299-2301)Cat>Tat	p.H767Y	PDZRN4_ENST00000539469.2_Missense_Mutation_p.H769Y|PDZRN4_ENST00000402685.2_Missense_Mutation_p.H1027Y			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	1027							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CACGAGAGTCCATAATGCCTT	0.443000													5	36					0	0	0.000602214	0	0
CNTRL	11064	broad.mit.edu	37	9	123904444	123904444	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:123904444C>T	ENST00000373855.1	+	19	3027	c.2767C>T	c.(2767-2769)Cta>Tta	p.L923L	CNTRL_ENST00000373850.1_Silent_p.L371L|CNTRL_ENST00000238341.5_Silent_p.L923L|CNTRL_ENST00000373847.1_Silent_p.L371L			Q7Z7A1	CNTRL_HUMAN	centriolin	923					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GCAAGAAAATCTAAAAAGTAT	0.378000													18	21					0	0	0.000958276	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918681	21918681	+	Silent	SNP	T	T	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:21918681T>G	ENST00000240662.2	-	3	1596	c.1251A>C	c.(1249-1251)ggA>ggC	p.G417G	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	417						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TGTTTTGATTTCCTTCTGGAG	0.428000													37	46					0	0	0.00111076	0	0
SOS1	6654	broad.mit.edu	37	2	39240630	39240630	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:39240630C>A	ENST00000426016.1	-	14	2224	c.2138G>T	c.(2137-2139)cGa>cTa	p.R713L	SOS1_ENST00000402219.2_Missense_Mutation_p.R713L|SOS1_ENST00000395038.2_Missense_Mutation_p.R713L			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	713	N-terminal Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TTCTTCCATTCGTTGCAAAAG	0.333000									Noonan syndrome				36	93					7.61001e-30	3.22474e-29	0.00111076	1	0
SLC9C2	284525	broad.mit.edu	37	1	173493180	173493180	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:173493180G>A	ENST00000367714.3	-	21	2990	c.2568C>T	c.(2566-2568)ccC>ccT	p.P856P	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	856					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CAGGAGTTGGGGGTGGGATTG	0.358000													30	65					0	0	0.00283554	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167118	140167118	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140167118C>T	ENST00000504120.2	+	1	1243	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	PCDHA1_ENST00000394633.3_Missense_Mutation_p.R415C|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R415C	NM_018900.2	NP_061723.1														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)			CGCCCTGGATCGCGAGAGCCT	0.637000													28	68					0	0	0.00209593	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626131	140626131	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140626131G>A	ENST00000231173.3	+	1	985	c.985G>A	c.(985-987)Gga>Aga	p.G329R		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		329	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGACTTTCTGGAAAATGCTC	0.413000													19	60					0	0	0.00121646	0	0
CHODL	140578	broad.mit.edu	37	21	19629025	19629025	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr21:19629025G>A	ENST00000299295.2	+	2	670	c.279G>A	c.(277-279)ggG>ggA	p.G93G	CHODL_ENST00000400135.1_Silent_p.G52G|CHODL_ENST00000338326.3_Silent_p.G52G|CHODL_ENST00000400131.1_Silent_p.G52G|CHODL_ENST00000400127.1_Silent_p.G52G|CHODL_ENST00000543733.1_Silent_p.G74G|CHODL_ENST00000400128.1_Silent_p.G52G	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	93	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		CCGGGACAGGGATTTCTGATG	0.488000													34	55					0	0	0.00170553	0	0
LILRB1	10859	broad.mit.edu	37	19	55144201	55144201	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:55144201C>T	ENST00000396331.1	+	7	1305	c.948C>T	c.(946-948)atC>atT	p.I316I	LILRB1_ENST00000427581.2_Silent_p.I352I|LILRB1_ENST00000418536.2_Silent_p.I316I|LILRB1_ENST00000396315.1_Silent_p.I316I|LILRB1_ENST00000396321.2_Silent_p.I316I|LILRB1_ENST00000396332.4_Silent_p.I316I|LILRB1_ENST00000324602.7_Silent_p.I316I|LILRB1_ENST00000448689.1_Silent_p.I316I|LILRB1_ENST00000434867.2_Silent_p.I316I|LILRB1_ENST00000396317.1_Silent_p.I316I|LILRB1_ENST00000396327.3_Silent_p.I316I	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	316	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCTGGACATCCTGATCGCAG	0.682000										HNSCC(37;0.09)			8	28					0	0	0.000673444	0	0
CLEC4G	339390	broad.mit.edu	37	19	7796641	7796641	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:7796641C>T	ENST00000328853.5	-	2	140	c.72G>A	c.(70-72)tgG>tgA	p.W24*	CLEC4G_ENST00000598081.1_5'UTR	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	24						integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						TCCAGTGCACCCAGCGTCCCC	0.587000													7	14					0	0	0.00198382	0	0
SPEN	23013	broad.mit.edu	37	1	16245992	16245992	+	Silent	SNP	C	C	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:16245992C>A	ENST00000375759.3	+	8	1819	c.1615C>A	c.(1615-1617)Cga>Aga	p.R539R		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	539	RRM 4.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACATTTCTGCCGATATGGGCC	0.468000													6	155					0.00198382	0.00817923	0.00198382	1	0
ROBO4	54538	broad.mit.edu	37	11	124756364	124756364	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:124756364G>T	ENST00000306534.3	-	16	3275	c.2790C>A	c.(2788-2790)ttC>ttA	p.F930L	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.F785L	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	930					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACATACCTATGAAGACGCAGT	0.498000													19	31					1.01871e-10	4.27523e-10	0.00121646	1	0
ABCA4	24	broad.mit.edu	37	1	94502706	94502706	+	Missense_Mutation	SNP	C	C	T	rs61752425		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:94502706C>T	ENST00000370225.3	-	25	3894	c.3808G>A	c.(3808-3810)Gaa>Aaa	p.E1270K		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1270					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTTACCTCTTCCAGGGGAGTG	0.453000													57	50					0	0	0.000781405	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145770733	145770733	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:145770733G>A	ENST00000276826.5	-	5	2622	c.2421C>T	c.(2419-2421)ctC>ctT	p.L807L	ARHGAP39_ENST00000377307.2_Silent_p.L807L|ARHGAP39_ENST00000540274.1_Silent_p.L807L|ARHGAP39_ENST00000528810.1_5'UTR			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	807	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			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						AGATGGCCATGAGCTCCCAGC	0.637000													15	24					0	0	0.000308642	0	0
GNAS	2778	broad.mit.edu	37	20	57429123	57429123	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:57429123C>T	ENST00000371100.4	+	1	1355	c.803C>T	c.(802-804)cCc>cTc	p.P268L	GNAS_ENST00000306120.3_Missense_Mutation_p.P205S|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.P268L|GNAS_ENST00000371102.4_Missense_Mutation_p.P268L|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CGCCTCACTCCCGCCGCGAAC	0.692000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			4	8					0	0	0.00116845	0	0
HRNR	388697	broad.mit.edu	37	1	152185756	152185756	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:152185756G>A	ENST00000368801.2	-	3	8424	c.8349C>T	c.(8347-8349)tcC>tcT	p.S2783S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2783					keratinization		calcium ion binding|protein binding			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)			GGCCGTAGCTGGAAGACTGCC	0.567000													8	28					0	0	0.00185496	0	0
CACNA1A	773	broad.mit.edu	37	19	13340940	13340940	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:13340940C>T	ENST00000360228.5	-	36	5483	c.5484G>A	c.(5482-5484)ctG>ctA	p.L1828L	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Silent_p.L1829L	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	1829					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGTACTCATCCAGGTGGTGGG	0.587000													11	13					0	0	0.00136819	0	0
SMIM8	57150	broad.mit.edu	37	6	88046794	88046794	+	Silent	SNP	C	C	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:88046794C>A	ENST00000392863.1	+	3	134	c.45C>A	c.(43-45)ccC>ccA	p.P15P	SMIM8_ENST00000229570.5_Silent_p.P15P	NM_001042493.1	NP_001035958.1			small integral membrane protein 8																		AGGAACCACCCAAAGAGAAAG	0.383000													28	24					3.1745e-13	1.33592e-12	0.001512	1	0
ANKRD36	375248	broad.mit.edu	37	2	97881266	97881266	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:97881266C>T	ENST00000420699.2	+	62	3949	c.3705C>T	c.(3703-3705)ttC>ttT	p.F1235F	ANKRD36_ENST00000461153.2_Silent_p.F1235F	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1235										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ATGTAATGTTCGATCAAATAG	0.358000													6	15					0	0	0.000274275	0	0
GALNT14	79623	broad.mit.edu	37	2	31178493	31178493	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:31178493C>T	ENST00000349752.5	-	6	1284	c.645G>A	c.(643-645)agG>agA	p.R215R	GALNT14_ENST00000420311.2_Silent_p.R180R|GALNT14_ENST00000406653.1_Silent_p.R195R|GALNT14_ENST00000324589.5_Silent_p.R220R|GALNT14_ENST00000356174.3_Silent_p.R182R|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	215	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCTCTTTGACCCTGTGCAACA	0.612000													14	34					0	0	0.000422831	0	0
ODF2	4957	broad.mit.edu	37	9	131260847	131260847	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:131260847G>A	ENST00000303890.5	+	21	2681	c.2096G>A	c.(2095-2097)aGg>aAg	p.R699K	ODF2_ENST00000372796.4_Missense_Mutation_p.R723K|ODF2_ENST00000434106.2_Missense_Mutation_p.R723K|ODF2_ENST00000351030.3_Missense_Mutation_p.R718K|ODF2_ENST00000444119.2_Missense_Mutation_p.R699K|ODF2_ENST00000372807.5_Missense_Mutation_p.R718K	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	723					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						gaagatgcgaggaggcaggtc	0.527000													5	9					0	0	0.000602214	0	0
C11orf63	79864	broad.mit.edu	37	11	122774974	122774974	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:122774974T>G	ENST00000227349.2	+	3	983	c.686T>G	c.(685-687)gTg>gGg	p.V229G	C11orf63_ENST00000307257.6_Missense_Mutation_p.V229G|C11orf63_ENST00000531316.1_Missense_Mutation_p.V229G	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	229										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TCTCCGTACGTGAAGAGCTCA	0.512000													16	57					0	0	0.000566183	0	0
AKNA	80709	broad.mit.edu	37	9	117099518	117099518	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:117099518G>T	ENST00000307564.4	-	22	4297	c.4136C>A	c.(4135-4137)cCa>cAa	p.P1379Q	AKNA_ENST00000374088.3_Missense_Mutation_p.P1379Q|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Missense_Mutation_p.P839Q|AKNA_ENST00000374075.5_Missense_Mutation_p.P1298Q|AKNA_ENST00000374079.4_Missense_Mutation_p.P324Q	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCGGGCTGGTGGGGGAGAGGC	0.657000													14	27					3.51602e-12	1.4776e-11	0.00121646	1	0
DNAH5	1767	broad.mit.edu	37	5	13891126	13891126	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:13891126C>T	ENST00000265104.4	-	17	2640	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	846	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGTGGCTCCTCCTGGGGAAGC	0.413000									Kartagener syndrome				94	99					0	0	0.000781405	0	0
MYH15	22989	broad.mit.edu	37	3	108135721	108135721	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:108135721C>T	ENST00000273353.3	-	30	4002	c.3946G>A	c.(3946-3948)Gaa>Aaa	p.E1316K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1316						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTGCTCTTTTCCCTGGAAAGT	0.418000													21	37					0	0	0.00152264	0	0
DONSON	29980	broad.mit.edu	37	21	34951847	34951847	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr21:34951847T>C	ENST00000303071.5	-	9	1438	c.1372A>G	c.(1372-1374)Aca>Gca	p.T458A	DONSON_ENST00000432378.1_Intron|DONSON_ENST00000303113.6_Missense_Mutation_p.T444A|DONSON_ENST00000453626.1_Intron	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	458					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						AGAGCTTGTGTCTTCACATTC	0.378000													15	23					0	0	0.000422831	0	0
DCLK2	166614	broad.mit.edu	37	4	151114386	151114386	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:151114386C>T	ENST00000296550.7	+	3	1607	c.853C>T	c.(853-855)Cat>Tat	p.H285Y	DCLK2_ENST00000507694.1_3'UTR|DCLK2_ENST00000506325.1_Missense_Mutation_p.H285Y|DCLK2_ENST00000302176.8_Missense_Mutation_p.H285Y	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	285					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGTCCTGGATCATAGTGGTAA	0.393000													51	24					0	0	0.000781405	0	0
COL27A1	85301	broad.mit.edu	37	9	117072864	117072864	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:117072864C>T	ENST00000356083.3	+	61	5863	c.5472C>T	c.(5470-5472)acC>acT	p.T1824T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1824	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CACTCTTCACCTTCCGGACCC	0.537000													18	30					0	0	0.00074312	0	0
ZPLD1	131368	broad.mit.edu	37	3	102187967	102187967	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:102187967C>T	ENST00000306176.1	+	8	1069	c.969C>T	c.(967-969)ccC>ccT	p.P323P	ZPLD1_ENST00000466937.1_Silent_p.P307P|ZPLD1_ENST00000491959.1_Silent_p.P307P	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	307						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATGACTGCCCCTTCCTTATGC	0.383000													15	43					0	0	0.00074312	0	0
NLRP7	199713	broad.mit.edu	37	19	55452870	55452870	+	Silent	SNP	C	C	T	rs111764628		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:55452870C>T	ENST00000446217.1	-	4	696	c.294G>A	c.(292-294)gcG>gcA	p.A98A	NLRP7_ENST00000328092.5_Silent_p.A70A|NLRP7_ENST00000448121.2_Silent_p.A70A|NLRP7_ENST00000592784.1_Silent_p.A70A|NLRP7_ENST00000590030.1_Silent_p.A70A|NLRP7_ENST00000588756.1_Silent_p.A70A|NLRP7_ENST00000340844.2_Silent_p.A70A			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	70							ATP binding			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)		TGTTCACAGTCGCATTCCTTA	0.463000													28	63					0	0	0.00127121	0	0
CD79A	973	broad.mit.edu	37	19	42381431	42381431	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:42381431C>T	ENST00000221972.3	+	1	242	c.57C>T	c.(55-57)ttC>ttT	p.F19F	CD79A_ENST00000444740.2_Silent_p.F19F	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	19					B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						TCCTCCTCTTCCTGCTGTCTG	0.607000			"""O, S"""		DLBCL								22	26					0	0	0.000586117	0	0
TTN	7273	broad.mit.edu	37	2	179462310	179462310	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:179462310T>G	ENST00000589042.1	-	294	57723	c.57499A>C	c.(57499-57501)Aat>Cat	p.N19167H	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N17526H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N10294H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N10102H|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N10227H|TTN_ENST00000342992.6_Missense_Mutation_p.N16599H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17526	Ig-like 108.						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)			CCGGCTTCATTTTTGGCAAGA	0.383000													21	34					0	0	0.00121646	0	0
KRT24	192666	broad.mit.edu	37	17	38859788	38859788	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:38859788C>T	ENST00000264651.2	-	1	214	c.158G>A	c.(157-159)aGt>aAt	p.S53N		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	53	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AGACCCCCCACTCAGGCTGCA	0.637000													14	18					0	0	0.00244969	0	0
NANOGP1	404635	broad.mit.edu	37	12	8048183	8048183	+	RNA	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:8048183G>A	ENST00000607111.1	+	0	111																				kidney(1)|lung(4)|prostate(1)	6						CACAAAAAAGGAAGACAAGGT	0.473000													12	35					0	0	0.000978159	0	0
NAV3	89795	broad.mit.edu	37	12	78513028	78513028	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:78513028G>C	ENST00000397909.2	+	15	3225	c.3052G>C	c.(3052-3054)Gat>Cat	p.D1018H	NAV3_ENST00000536525.2_Missense_Mutation_p.D1018H|NAV3_ENST00000266692.7_Missense_Mutation_p.D1018H|NAV3_ENST00000228327.6_Missense_Mutation_p.D1018H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1018						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAAAACCGATGATGCCAAAGC	0.388000										HNSCC(70;0.22)			12	78					0	0	0.000308642	0	0
SACS	26278	broad.mit.edu	37	13	23928011	23928011	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr13:23928011G>A	ENST00000382298.3	-	9	2686	c.2098C>T	c.(2098-2100)Ctt>Ttt	p.L700F	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000476776.1_5'UTR|SACS_ENST00000382292.3_Missense_Mutation_p.L700F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	700					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			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)		CTTGGGAAAAGGGACCTGAAA	0.373000													22	30					0	0	0.00047179	0	0
DPPA4	55211	broad.mit.edu	37	3	109049504	109049504	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:109049504G>A	ENST00000335658.6	-	5	600	c.546C>T	c.(544-546)tcC>tcT	p.S182S	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	182						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GGAGAGCAGTGGAATTTTCCA	0.557000													26	52					0	0	0.000878237	0	0
OR6B2	389090	broad.mit.edu	37	2	240969565	240969565	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:240969565G>A	ENST00000402971.2	-	1	341	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGCACCCGACGAAAGAGATGC	0.572000													11	21					0	0	0.00244969	0	0
FANCA	2175	broad.mit.edu	37	16	89813022	89813022	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:89813022C>T	ENST00000389301.3	-	35	3513	c.3483G>A	c.(3481-3483)acG>acA	p.T1161T	FANCA_ENST00000568369.1_Silent_p.T1161T	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1161					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGGGGCATTTCGTCTGGCACT	0.562000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	25					0	0	0.00116845	0	0
NRXN3	9369	broad.mit.edu	37	14	79432697	79432697	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:79432697C>T	ENST00000554719.1	+	9	2097	c.1606C>T	c.(1606-1608)Ctc>Ttc	p.L536F	NRXN3_ENST00000335750.5_Missense_Mutation_p.L536F	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	127					angiogenesis|cell adhesion	integral to membrane		p.L536I(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)		TGGCTTCATTCTCTTCAATAG	0.473000													23	40					0	0	0.00229938	0	0
DSG1	1828	broad.mit.edu	37	18	28934829	28934829	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr18:28934829G>A	ENST00000257192.4	+	15	2882	c.2670G>A	c.(2668-2670)tcG>tcA	p.S890S	RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Silent_p.S249S|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	890					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAGATGGGTCGAATGTTATAG	0.483000													59	23					0	0	0.000781405	0	0
ZAN	7455	broad.mit.edu	37	7	100350705	100350705	+	RNA	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:100350705C>T	ENST00000542585.1	+	0	3125				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATTCCCACAGAGAA	0.562000													38	31					0	0	0.00128727	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047905	42047905	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:42047905A>G	ENST00000372584.1	-	3	3578	c.2564T>C	c.(2563-2565)gTt>gCt	p.V855A	HIVEP3_ENST00000429157.2_Missense_Mutation_p.V855A|HIVEP3_ENST00000372583.1_Missense_Mutation_p.V855A|HIVEP3_ENST00000247584.5_Missense_Mutation_p.V855A	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	855	Glu/Pro-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GATCTCAGGAACCTGAATGTT	0.612000													30	93					0	0	0.0024448	0	0
DRD2	1813	broad.mit.edu	37	11	113295249	113295249	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:113295249G>A	ENST00000362072.3	-	2	469	c.125C>T	c.(124-126)aCc>aTc	p.T42I	DRD2_ENST00000542968.1_Missense_Mutation_p.T42I|DRD2_ENST00000538967.1_Missense_Mutation_p.T42I|DRD2_ENST00000355319.2_Missense_Mutation_p.T42I|DRD2_ENST00000346454.3_Missense_Mutation_p.T42I|DRD2_ENST00000544518.1_Missense_Mutation_p.T42I	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	42					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			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)	GATGAGCAGGGTGAGCAGTGT	0.587000													26	46					0	0	0.000720815	0	0
FASLG	356	broad.mit.edu	37	1	172634971	172634971	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:172634971G>A	ENST00000367721.2	+	4	845	c.661G>A	c.(661-663)Gat>Aat	p.D221N	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	221					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GTATCCCCAGGATCTGGTGAT	0.517000													24	67					0	0	0.00127121	0	0
GLIPR1	11010	broad.mit.edu	37	12	75874745	75874745	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:75874745G>A	ENST00000266659.3	+	1	286	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	29					cellular lipid metabolic process	extracellular region|integral to membrane		p.E29K(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						GCCAGATATCGAAAATGAAGA	0.403000													13	31					0	0	0.00136819	0	0
ATP2B2	491	broad.mit.edu	37	3	10391802	10391802	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:10391802C>T	ENST00000397077.1	-	15	2838	c.2263G>A	c.(2263-2265)Gtt>Att	p.V755I	ATP2B2_ENST00000383800.4_Missense_Mutation_p.V755I|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V800I|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V786I|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V800I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	800					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TTACCTTTAACCAGGGTATGC	0.597000													6	21					0	0	0.000157383	0	0
THSD7B	80731	broad.mit.edu	37	2	137988738	137988738	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:137988738C>T	ENST00000409968.1	+	8	2026	c.1848C>T	c.(1846-1848)tcC>tcT	p.S616S	THSD7B_ENST00000413152.2_Silent_p.S585S|THSD7B_ENST00000272643.3_Silent_p.S616S|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTTCCCAGTCCTGTTCAAATA	0.507000													14	14					0	0	0.00244969	0	0
DUSP18	150290	broad.mit.edu	37	22	31059833	31059833	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:31059833G>A	ENST00000403268.1	-	2	628	c.158C>T	c.(157-159)tCa>tTa	p.S53L	DUSP18_ENST00000404885.1_Missense_Mutation_p.S53L|DUSP18_ENST00000407308.1_Missense_Mutation_p.S53L|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000334679.3_Missense_Mutation_p.S53L			Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	53						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						TACCTCCACTGAGACATTGAT	0.483000													105	27					0	0	0.000781405	0	0
FAM124B	79843	broad.mit.edu	37	2	225266082	225266082	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:225266082G>A	ENST00000389874.3	-	1	629	c.404C>T	c.(403-405)tCc>tTc	p.S135F	FAM124B_ENST00000243806.2_Missense_Mutation_p.S135F|FAM124B_ENST00000409685.3_Missense_Mutation_p.S135F	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	135							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CAGGATCTCGGAGCCACAGTG	0.537000													20	26					0	0	0.00188189	0	0
BAI3	577	broad.mit.edu	37	6	70064197	70064197	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:70064197C>T	ENST00000370598.1	+	27	4353	c.3532C>T	c.(3532-3534)Cct>Tct	p.P1178S	BAI3_ENST00000238918.8_Missense_Mutation_p.P384S|BAI3_ENST00000546190.1_Missense_Mutation_p.P142S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1178					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)				GAGTTCGTTTCCTAATGGGCA	0.383000													19	62					0	0	0.00278032	0	0
OR1J4	26219	broad.mit.edu	37	9	125281783	125281783	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:125281783C>T	ENST00000340750.1	+	1	364	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122G(1)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GGCATACGATCGGTATGTGGC	0.433000													34	58					0	0	0.0024448	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877293	24877293	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:24877293G>A	ENST00000382554.3	+	3	735	c.417G>A	c.(415-417)ggG>ggA	p.G139G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	139					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGCTGGTGGGGCGACTGCGCT	0.687000													5	9					0	0	0.000602214	0	0
EFCAB6	64800	broad.mit.edu	37	22	43996104	43996104	+	Silent	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:43996104T>C	ENST00000262726.7	-	23	2974	c.2721A>G	c.(2719-2721)gaA>gaG	p.E907E	EFCAB6_ENST00000396231.2_Silent_p.E755E	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	907	EF-hand 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTGTAAAAATTCCTGGTAAG	0.428000													68	158					0	0	0.000781405	0	0
GABRE	2564	broad.mit.edu	37	X	151123421	151123421	+	Missense_Mutation	SNP	C	C	T	rs150837963		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:151123421C>T	ENST00000370328.3	-	9	1326	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	425					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGCTGGGCTGAGCAAGAC	0.602000													7	4					0	0	0.000157383	0	0
BCMO1	53630	broad.mit.edu	37	16	81319193	81319193	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:81319193G>A	ENST00000258168.2	+	9	1717	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q	BCMO1_ENST00000425577.2_Missense_Mutation_p.R350Q	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	419					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						AAGCAATACCGATATGTCTTT	0.478000													14	41					0	0	0.000422831	0	0
APOB	338	broad.mit.edu	37	2	21234639	21234639	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:21234639C>A	ENST00000233242.1	-	26	5228	c.5101G>T	c.(5101-5103)Ggg>Tgg	p.G1701W		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1701					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCGGCTTTCCCATCCAGACTG	0.473000													10	576					0.000673444	0.00279929	0.000673444	1	0
GFRAL	389400	broad.mit.edu	37	6	55223918	55223918	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:55223918C>T	ENST00000340465.2	+	6	1020	c.934C>T	c.(934-936)Cat>Tat	p.H312Y		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	312						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCACATGCTTCATAGAAAATC	0.338000													16	25					0	0	0.000422831	0	0
OR6X1	390260	broad.mit.edu	37	11	123624405	123624405	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:123624405C>T	ENST00000327930.2	-	1	848	c.822G>A	c.(820-822)gtG>gtA	p.V274V		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TAGTATTTAGCACAGACACCA	0.458000													37	40					0	0	0.000692331	0	0
PSMA2	5683	broad.mit.edu	37	7	42966224	42966224	+	Silent	SNP	G	G	A	rs150444926	byFrequency	TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:42966224G>A	ENST00000442788.1	-	3	177	c.162C>T	c.(160-162)tcC>tcT	p.S54S	PSMA2_ENST00000445517.1_Intron|PSMA2_ENST00000538645.1_5'UTR|PSMA2_ENST00000223321.4_Silent_p.S54S			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	54					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|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						CATACAGAATGGATTTCTGTT	0.358000													11	27					0	0	0.000978159	0	0
NUP160	23279	broad.mit.edu	37	11	47827791	47827791	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:47827791G>A	ENST00000378460.2	-	20	2566	c.2520C>T	c.(2518-2520)ttC>ttT	p.F840F	NUP160_ENST00000528071.1_Silent_p.F726F|NUP160_ENST00000530326.1_Silent_p.F726F	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	840					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTGGCTGAGAGAAGAGGTGAG	0.353000													40	44					0	0	0.00111076	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303261	151303261	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:151303261C>T	ENST00000370323.4	-	4	1148	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.E278K	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	278	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTAGTTTTCCTGCACCCAA	0.532000													36	27					0	0	0.000814825	0	0
TMEM234	56063	broad.mit.edu	37	1	32682831	32682831	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:32682831C>T	ENST00000373593.1	-	4	377	c.357G>A	c.(355-357)acG>acA	p.T119T	TMEM234_ENST00000344461.3_Intron|TMEM234_ENST00000545122.1_Intron|TMEM234_ENST00000485689.1_Intron|TMEM234_ENST00000309777.6_Intron			Q8WY98	TM234_HUMAN	transmembrane protein 234	0						integral to membrane				kidney(2)|lung(3)	5						CACAGAGCTGCGTCCCGCACT	0.517000													9	26					0	0	0.000442599	0	0
C19orf55	148137	broad.mit.edu	37	19	36256056	36256056	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:36256056G>A	ENST00000544099.1	+	7	811	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	C19orf55_ENST00000396908.4_Missense_Mutation_p.G250S			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	250										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCAGCAAGGGCCTTGGCCC	0.617000													12	18					0	0	0.000978159	0	0
CHST10	9486	broad.mit.edu	37	2	101010059	101010059	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:101010059A>G	ENST00000264249.3	-	7	1104	c.719T>C	c.(718-720)tTc>tCc	p.F240S	CHST10_ENST00000542617.1_Missense_Mutation_p.F288S|CHST10_ENST00000409701.1_Missense_Mutation_p.F240S	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	240					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GTAGCGCACGAAATCTTCAAA	0.542000													49	91					0	0	0.000781405	0	0
FCRL4	83417	broad.mit.edu	37	1	157556119	157556119	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:157556119C>T	ENST00000271532.1	-	6	1109	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	325	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CATGTCCTCTCGGTGCCAGGA	0.607000													19	37					0	0	0.000958276	0	0
ZNF619	285267	broad.mit.edu	37	3	40523445	40523445	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:40523445C>T	ENST00000447116.2	+	3	423	c.116C>T	c.(115-117)cCt>cTt	p.P39L	ZNF619_ENST00000429348.2_Missense_Mutation_p.P39L|ZNF619_ENST00000456778.1_Intron|ZNF619_ENST00000314686.5_Silent_p.P6P|ZNF619_ENST00000522736.1_Silent_p.P6P|ZNF619_ENST00000520737.1_Intron|ZNF619_ENST00000521353.1_Missense_Mutation_p.P39L|ZNF619_ENST00000432264.2_Missense_Mutation_p.P39L	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	39					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGCCTGCACCCTACGCAGAGG	0.527000													38	60					0	0	0.0025221	0	0
KIAA1958	158405	broad.mit.edu	37	9	115422088	115422088	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:115422088C>T	ENST00000337530.6	+	4	2186	c.1890C>T	c.(1888-1890)taC>taT	p.Y630Y	KIAA1958_ENST00000536272.1_Silent_p.Y658Y	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	630										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGTGCCCTTACTGCCTCCTCT	0.597000													7	7					0	0	0.00198382	0	0
DNAJC6	9829	broad.mit.edu	37	1	65860679	65860679	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:65860679C>T	ENST00000395325.3	+	13	1988	c.1831C>T	c.(1831-1833)Ctc>Ttc	p.L611F	DNAJC6_ENST00000263441.7_Missense_Mutation_p.L598F|DNAJC6_ENST00000371069.4_Missense_Mutation_p.L668F	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	611	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			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						TGACCCCTTTCTCCAGCCAAC	0.443000													33	105					0	0	0.000692331	0	0
KLHL22	84861	broad.mit.edu	37	22	20796379	20796379	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:20796379T>C	ENST00000328879.4	-	7	2042	c.1886A>G	c.(1885-1887)gAc>gGc	p.D629G	KLHL22_ENST00000440659.2_Missense_Mutation_p.D486G	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	629					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ACTGGAGTTGTCAAACTCCTC	0.642000													5	28					0	0	0.00116845	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853302	70853302	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:70853302C>T	ENST00000333538.5	+	3	1138	c.504C>T	c.(502-504)atC>atT	p.I168I	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	168	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			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)				TGTCGGTGATCCTGCGGTCCG	0.557000													20	14					0	0	0.00188189	0	0
DNAH5	1767	broad.mit.edu	37	5	13737376	13737376	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:13737376C>T	ENST00000265104.4	-	66	11544	c.11440G>A	c.(11440-11442)Gag>Aag	p.E3814K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3814					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGTATTCCTCCCGGGCTGAG	0.428000									Kartagener syndrome				87	28					0	0	0.000781405	0	0
CLVS1	157807	broad.mit.edu	37	8	62212784	62212784	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:62212784G>A	ENST00000519846.1	+	3	870	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	CLVS1_ENST00000325897.4_Missense_Mutation_p.R133Q|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	133	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTGGAAAACCGAGACCATTAC	0.458000													14	32					0	0	0.000422831	0	0
GDF10	2662	broad.mit.edu	37	10	48429087	48429087	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:48429087C>T	ENST00000224605.2	-	2	1064	c.799G>A	c.(799-801)Gac>Aac	p.D267N		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	267					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGGAAGGGGTCGTATCTCTGC	0.701000													6	2					0	0	0.00116845	0	0
EFHB	151651	broad.mit.edu	37	3	19975432	19975432	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:19975432G>A	ENST00000295824.9	-	1	240	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S	EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	27					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AACTCCATGGGAAATTTTGTT	0.483000													14	20					0	0	0.00185496	0	0
APOB	338	broad.mit.edu	37	2	21241968	21241968	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:21241968C>T	ENST00000233242.1	-	20	3144	c.3017G>A	c.(3016-3018)aGg>aAg	p.R1006K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1006					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCTGTAGGCCTCAGTTCCAG	0.438000													114	179					0	0	0.000781405	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209950801	209950801	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:209950801C>T	ENST00000367024.1	+	12	1674	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	TRAF3IP3_ENST00000367025.3_Silent_p.D386D|TRAF3IP3_ENST00000477431.1_Silent_p.D122D|TRAF3IP3_ENST00000367026.3_Silent_p.D366D|TRAF3IP3_ENST00000010338.4_Silent_p.D366D|TRAF3IP3_ENST00000400959.3_Silent_p.D366D|TRAF3IP3_ENST00000367023.1_Silent_p.D122D			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	386						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GGGACAGAGACCTGTGCAGCT	0.512000													10	27					0	0	0.000673444	0	0
KCNK5	8645	broad.mit.edu	37	6	39159183	39159183	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:39159183C>T	ENST00000359534.3	-	5	1321	c.983G>A	c.(982-984)gGg>gAg	p.G328E		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	328					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GCCTTGAGGCCCCAGCCCTGG	0.632000													11	33					0	0	0.000673444	0	0
CEP170P1	645455	broad.mit.edu	37	4	119472291	119472291	+	RNA	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:119472291C>T	ENST00000412784.2	+	0	588					NR_003135.2																						AATTAAGAGCCGAAAGTGAAG	0.274000													16	9					0	0	0.00121646	0	0
RGS7	6000	broad.mit.edu	37	1	240975334	240975334	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:240975334C>T	ENST00000366565.1	-	14	1347	c.966G>A	c.(964-966)ccG>ccA	p.P322P	RGS7_ENST00000366563.1_Silent_p.P322P|RGS7_ENST00000331110.7_Silent_p.P296P|RGS7_ENST00000401882.1_Silent_p.P269P|RGS7_ENST00000366562.4_Silent_p.P322P|RGS7_ENST00000446183.2_Silent_p.P238P|RGS7_ENST00000366564.1_Silent_p.P322P|RGS7_ENST00000407727.1_Silent_p.P322P|RGS7_ENST00000348120.2_Silent_p.P269P	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	322					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTGCTGGCTCGGTTCTTTGC	0.393000													18	38					0	0	0.00121646	0	0
MGAM	8972	broad.mit.edu	37	7	141758058	141758058	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:141758058G>T	ENST00000475668.2	+	31	3803	c.3749G>T	c.(3748-3750)cGc>cTc	p.R1250L	MGAM_ENST00000549489.2_Missense_Mutation_p.R1250L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1250	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGCTGTGTCGCTATGGCTAC	0.483000													44	185					3.39706e-21	1.43551e-20	0.000781405	1	0
SIGLEC7	27036	broad.mit.edu	37	19	51645918	51645918	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:51645918C>T	ENST00000317643.6	+	1	361	c.292C>T	c.(292-294)Ctt>Ttt	p.L98F	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.L98F|SIGLEC7_ENST00000600577.1_Missense_Mutation_p.L98F	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	98	Ig-like V-type.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			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)		ATTCCACCTCCTTGGGGACCC	0.517000													20	54					0	0	0.00188189	0	0
LARP1	23367	broad.mit.edu	37	5	154193632	154193632	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:154193632G>A	ENST00000336314.4	+	19	3060	c.3036G>A	c.(3034-3036)tcG>tcA	p.S1012S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	1089							protein binding|RNA binding	p.S1089S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCAGCACTCGAACACACAGA	0.607000													11	16					0	0	0.000673444	0	0
TTC26	79989	broad.mit.edu	37	7	138853101	138853101	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:138853101C>T	ENST00000464848.1	+	11	1043	c.963C>T	c.(961-963)ctC>ctT	p.L321L	TTC26_ENST00000495038.1_Silent_p.L190L|TTC26_ENST00000478836.2_Silent_p.L214L|TTC26_ENST00000430935.1_Silent_p.L321L|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Silent_p.L290L			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	321							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AGTATATTCTCAAAGGAGTGG	0.363000													8	31					0	0	0.000157383	0	0
WLS	79971	broad.mit.edu	37	1	68591997	68591997	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:68591997C>T	ENST00000262348.4	-	12	1791	c.1538G>A	c.(1537-1539)gGg>gAg	p.G513E	WLS_ENST00000540432.1_Intron|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.G422E|WLS_ENST00000354777.2_Intron|GNG12-AS1_ENST00000420587.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	513					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						GAGTTCTTCCCCACTATGGAC	0.552000													11	26					0	0	0.00185496	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986533	51986533	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:51986533G>A	ENST00000396477.4	+	4	957	c.936G>A	c.(934-936)agG>agA	p.R312R	CEACAM18_ENST00000451626.1_Silent_p.R373R	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	373	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGACGTCAGGATCCAGGCCC	0.597000													9	20					0	0	0.000274275	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877292	24877292	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:24877292G>A	ENST00000382554.3	+	3	734	c.416G>A	c.(415-417)gGg>gAg	p.G139E		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	139					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GAGCTGGTGGGGCGACTGCGC	0.682000													6	9					0	0	0.00116845	0	0
SOX30	11063	broad.mit.edu	37	5	157078245	157078245	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:157078245G>A	ENST00000265007.6	-	1	1183	c.842C>T	c.(841-843)tCa>tTa	p.S281L	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.S281L	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	281					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			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)			TATCAGCTCTGAAGGCGGAGC	0.562000													19	40					0	0	0.00229938	0	0
PRG3	10394	broad.mit.edu	37	11	57147108	57147108	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:57147108G>A	ENST00000287143.2	-	3	343	c.234C>T	c.(232-234)gcC>gcT	p.A78A		NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3	78					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						CCGACTCCATGGCTTCCTCAT	0.552000													19	58					0	0	0.00152264	0	0
KRT26	353288	broad.mit.edu	37	17	38923894	38923894	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:38923894G>A	ENST00000335552.4	-	7	1247	c.1199C>T	c.(1198-1200)tCc>tTc	p.S400F		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	400	Tail.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				GTAACATGTGGATTTGCTTTT	0.318000													25	37					0	0	0.001512	0	0
CHRM3	1131	broad.mit.edu	37	1	240071104	240071104	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:240071104G>A	ENST00000255380.4	+	5	1132	c.353G>A	c.(352-354)gGg>gAg	p.G118E		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	118					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			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)	CTGATTATCGGGGTCATTTCA	0.478000													18	24					0	0	0.00074312	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3687130	3687130	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:3687130C>T	ENST00000344754.4	-	2	272	c.273G>A	c.(271-273)ggG>ggA	p.G91G	SIGLEC1_ENST00000202578.4_Silent_p.G91G	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	91	Ig-like V-type.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCTCGGGGTTCCCCATGAACT	0.642000													14	33					0	0	0.000308642	0	0
PCDH15	65217	broad.mit.edu	37	10	55591165	55591165	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:55591165C>T	ENST00000373965.2	-	31	4527	c.4133G>A	c.(4132-4134)gGa>gAa	p.G1378E	PCDH15_ENST00000395445.1_Missense_Mutation_p.G1378E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1334E|PCDH15_ENST00000409834.1_Missense_Mutation_p.G982E|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1376E|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1371E|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1371E|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1371E|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1371E|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1349E|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1300E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1371					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCTGTGTATCCTAGACTTTC	0.483000										HNSCC(58;0.16)			44	21					0	0	0.00222228	0	0
DNAH9	1770	broad.mit.edu	37	17	11520784	11520784	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:11520784G>A	ENST00000262442.3	+	5	1029	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.E321K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	321	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)		GCGCCACCTGGAAGCTCTGGA	0.577000													5	18					0	0	0.000602214	0	0
OR5R1	219479	broad.mit.edu	37	11	56185123	56185123	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:56185123C>T	ENST00000312253.1	-	1	585	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196K(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATCAGAATTTCCTTCATGTGT	0.433000													26	23					0	0	0.00047179	0	0
FAM154A	158297	broad.mit.edu	37	9	18929007	18929007	+	Silent	SNP	C	C	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:18929007C>A	ENST00000380534.4	-	4	747	c.468G>T	c.(466-468)ctG>ctT	p.L156L	FAM154A_ENST00000542071.1_5'UTR|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	156										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		ATTTGTGTTCCAGACGAAGTG	0.428000													5	90					0.00198382	0.00817923	0.00198382	1	0
MMP11	4320	broad.mit.edu	37	22	24122788	24122788	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:24122788C>T	ENST00000215743.3	+	4	554	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	168					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				TGGGGACGACCTGCCGTTTGA	0.632000													28	5					0	0	0.00178596	0	0
PHACTR2	9749	broad.mit.edu	37	6	144081548	144081548	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:144081548A>C	ENST00000427704.2	+	5	562	c.432A>C	c.(430-432)gaA>gaC	p.E144D	PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000440869.2_Missense_Mutation_p.E155D|PHACTR2_ENST00000305766.6_Intron	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	144							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AGAACACTGAAAACCACTCTG	0.463000													5	4					0	0	0.000602214	0	0
TMC5	79838	broad.mit.edu	37	16	19474639	19474639	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:19474639C>T	ENST00000396229.2	+	7	1935	c.1186C>T	c.(1186-1188)Cgt>Tgt	p.R396C	TMC5_ENST00000561503.1_Missense_Mutation_p.R37C|TMC5_ENST00000542583.2_Missense_Mutation_p.R396C|TMC5_ENST00000381414.4_Missense_Mutation_p.R396C|TMC5_ENST00000219821.5_Missense_Mutation_p.R150C|TMC5_ENST00000541464.1_Missense_Mutation_p.R396C|TMC5_ENST00000564959.1_Missense_Mutation_p.R79C	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	396						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACAGACCCATCGTATCCTTCA	0.408000													24	22					0	0	0.000720815	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45499524	45499524	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr21:45499524C>T	ENST00000291574.4	+	12	1724	c.1549C>T	c.(1549-1551)Ccc>Tcc	p.P517S		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	517					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CTGGGCACTCCCCATCACACA	0.428000													8	16					0	0	0.000274275	0	0
IMPG2	50939	broad.mit.edu	37	3	100961721	100961721	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:100961721C>T	ENST00000193391.7	-	14	3020	c.2833G>A	c.(2833-2835)Ggg>Agg	p.G945R		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	945	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTCTGGAACCCCGTGAGATTT	0.408000													19	37					0	0	0.00188189	0	0
FLG	2312	broad.mit.edu	37	1	152277655	152277655	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:152277655G>A	ENST00000368799.1	-	3	9742	c.9707C>T	c.(9706-9708)tCc>tTc	p.S3236F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3236	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTTTCTGGAAGCAGACCC	0.597000									Ichthyosis				53	122					0	0	0.000781405	0	0
TREM1	54210	broad.mit.edu	37	6	41250298	41250298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:41250298G>A	ENST00000591620.1	-	2	267	c.241C>T	c.(241-243)Caa>Taa	p.Q81*	TREM1_ENST00000589614.1_Nonsense_Mutation_p.Q81*|TREM1_ENST00000334475.6_Nonsense_Mutation_p.Q81*|TREM1_ENST00000244709.4_Nonsense_Mutation_p.Q81*	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	81	Ig-like V-type.				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	CTCCCCACTTGGACTGGATGG	0.498000													40	21					0	0	0.00222228	0	0
BCAM	4059	broad.mit.edu	37	19	45322970	45322970	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:45322970G>A	ENST00000391955.1	+	13	1794	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K	BCAM_ENST00000270233.6_Missense_Mutation_p.E584K			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	584					cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CCAGCGGCGGGAGAAGGGGGC	0.632000													22	46					0	0	0.000720815	0	0
NOS1	4842	broad.mit.edu	37	12	117665423	117665423	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:117665423C>T	ENST00000317775.6	-	23	4114	c.3429G>A	c.(3427-3429)tgG>tgA	p.W1143*	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Nonsense_Mutation_p.W1177*	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1143	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGCCCCATTTCCATTCCTCGT	0.592000													17	17					0	0	0.000958276	0	0
SCEL	8796	broad.mit.edu	37	13	78187050	78187050	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr13:78187050C>T	ENST00000535157.1	+	21	1406	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	SCEL_ENST00000377246.3_Silent_p.I434I|SCEL_ENST00000349847.3_Silent_p.I454I|SCEL_ENST00000469982.1_3'UTR	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	454	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAAATCTTATCAAAGTGATCC	0.264000													21	36					0	0	0.000878237	0	0
IMPG1	3617	broad.mit.edu	37	6	76660521	76660521	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:76660521G>A	ENST00000369950.3	-	13	1771	c.1582C>T	c.(1582-1584)Cct>Tct	p.P528S	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	528					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GATGGGGCAGGAGTGTCAGAC	0.483000													5	13					0	0	0.000602214	0	0
STK10	6793	broad.mit.edu	37	5	171481681	171481681	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:171481681C>T	ENST00000176763.5	-	17	2887	c.2544G>A	c.(2542-2544)gaG>gaA	p.E848E		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	848	Gln-rich.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTGCCTCTTCTCCTCCTGCT	0.642000													15	62					0	0	0.00074312	0	0
LHX1	3975	broad.mit.edu	37	17	35300123	35300123	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:35300123C>T	ENST00000254457.5	+	5	2327	c.916C>T	c.(916-918)Cag>Tag	p.Q306*	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	306					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			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)				CTCGCAGGCCCAGACACCAGT	0.716000													3	2					0	0	6.4e-05	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131574	142131574	+	RNA	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:142131574C>T	ENST00000390375.2	-	0	221																											AACTGGGGCCCCTGACCCAGG	0.507000													14	46					0	0	0.00185496	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422009	1422009	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:1422009G>A	ENST00000270349.9	-	5	901	c.774C>T	c.(772-774)ggC>ggT	p.G258G	SLC6A3_ENST00000453492.2_Silent_p.G258G	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	258					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGGTCTTCACGCCCTTCCAGA	0.637000													41	67					0	0	0.00285205	0	0
FLG	2312	broad.mit.edu	37	1	152283067	152283067	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:152283067C>T	ENST00000368799.1	-	3	4330	c.4295G>A	c.(4294-4296)gGg>gAg	p.G1432E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1432	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGCTTTCCCCTGACTGGCC	0.567000									Ichthyosis				66	89					0	0	0.000781405	0	0
HPD	3242	broad.mit.edu	37	12	122295687	122295687	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:122295687G>A	ENST00000289004.4	-	3	104	c.69C>T	c.(67-69)acC>acT	p.T23T	HPD_ENST00000543163.1_5'UTR	NM_002150.2	NP_002141.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	23					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	CAACCCAGAAGGTCACAGAGT	0.597000													9	13					0	0	0.000673444	0	0
HADHA	3030	broad.mit.edu	37	2	26462009	26462009	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:26462009A>C	ENST00000380649.3	-	2	199	c.70T>G	c.(70-72)Tat>Gat	p.Y24D	HADHA_ENST00000457468.2_5'UTR	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	24					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	CGGCATATATAACCTGTAAGA	0.274000													55	114					0	0	0.000781405	0	0
FCGBP	8857	broad.mit.edu	37	19	40408029	40408029	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:40408029C>T	ENST00000221347.6	-	9	4699	c.4692G>A	c.(4690-4692)gaG>gaA	p.E1564E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1564	Cys-rich.|TIL 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACTGGCAGCCCTCAGCACACC	0.602000													10	31					0	0	0.000442599	0	0
GLYR1	84656	broad.mit.edu	37	16	4867659	4867659	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:4867659G>A	ENST00000321919.9	-	10	922	c.846C>T	c.(844-846)atC>atT	p.I282I	GLYR1_ENST00000436648.5_Silent_p.I201I|GLYR1_ENST00000591451.1_Silent_p.I282I|GLYR1_ENST00000381983.3_Silent_p.I265I	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	282					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						AGTTGGAGACGATTCCACTTC	0.502000													20	51					0	0	0.00152264	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94881382	94881382	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:94881382G>T	ENST00000289495.5	+	10	2755	c.2539G>T	c.(2539-2541)Ggg>Tgg	p.G847W	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G847W|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G847W|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G847W|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.G847W|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G869W	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	847	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGTCTCTAAAGGGGATACCAT	0.408000										HNSCC(28;0.073)			23	24					6.21321e-17	2.62192e-16	0.00278032	1	0
RBKS	64080	broad.mit.edu	37	2	28113191	28113191	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:28113191G>A	ENST00000302188.3	-	1	774	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	RBKS_ENST00000444339.2_Nonsense_Mutation_p.Q8*	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	8					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					CACTGCCTCTGGGGTTCCCCA	0.647000													7	13					0	0	0.000274275	0	0
NTHL1	4913	broad.mit.edu	37	16	2097828	2097828	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:2097828G>A	ENST00000219066.1	-	1	39	c.21C>T	c.(19-21)tcC>tcT	p.S7S	TSC2_ENST00000219476.3_5'UTR	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	7					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CGGTCATGCCGGACTCCTGCG	0.711000								Base excision repair (BER), DNA glycosylases					3	3					0	0	6.4e-05	0	0
GABRR1	2569	broad.mit.edu	37	6	89907954	89907954	+	Silent	SNP	C	C	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:89907954C>A	ENST00000435811.1	-	4	760	c.306G>T	c.(304-306)acG>acT	p.T102T	GABRR1_ENST00000454853.2_Silent_p.T119T|GABRR1_ENST00000369451.3_Silent_p.T32T	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	119					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|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGAGGGTCATCGTAAAGTCCT	0.552000													5	112					0.00116845	0.00483708	0.00116845	1	0
NEB	4703	broad.mit.edu	37	2	152496875	152496875	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:152496875C>T	ENST00000397345.3	-	61	8881	c.8679G>A	c.(8677-8679)caG>caA	p.Q2893Q	NEB_ENST00000409198.1_Silent_p.Q2893Q|NEB_ENST00000604864.1_Silent_p.Q2893Q|NEB_ENST00000603639.1_Silent_p.Q2893Q|NEB_ENST00000172853.10_Silent_p.Q2893Q|NEB_ENST00000427231.2_Silent_p.Q2893Q	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2893					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCACATCGCTCTGGAGGTCAT	0.517000													20	52					0	0	0.00152264	0	0
PREX2	80243	broad.mit.edu	37	8	69046488	69046488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:69046488C>T	ENST00000288368.4	+	32	4238	c.3961C>T	c.(3961-3963)Cag>Tag	p.Q1321*		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1321					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.Q1321*(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTTCACTTTCAGTCACTTCT	0.438000													19	45					0	0	0.000958276	0	0
KIF6	221458	broad.mit.edu	37	6	39693057	39693057	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:39693057C>T	ENST00000287152.7	-	1	124	c.30G>A	c.(28-30)gcG>gcA	p.A10A	KIF6_ENST00000373216.3_Silent_p.A10A|KIF6_ENST00000373215.3_Silent_p.A10A|KIF6_ENST00000538893.1_Silent_p.A10A	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	10	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCTTCACCCTCGCGAATATCT	0.667000													49	60					0	0	0.000781405	0	0
CCDC153	283152	broad.mit.edu	37	11	119063891	119063891	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:119063891C>T	ENST00000503566.2	-	4	318	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	CCDC153_ENST00000415318.1_Missense_Mutation_p.E107K			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	107										lung(3)|stomach(1)	4						TTGACTTCTTCCTCCAGCTGC	0.617000													23	24					0	0	0.00047179	0	0
RAC1	5879	broad.mit.edu	37	7	6426906	6426906	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:6426906C>T	ENST00000348035.4	+	2	312	c.99C>T	c.(97-99)atC>atT	p.I33I	RAC1_ENST00000356142.4_Silent_p.I33I|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	33					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GAGAATATATCCCTACTGTGT	0.358000													49	50					0	0	0.000781405	0	0
BAIAP2	10458	broad.mit.edu	37	17	79077486	79077486	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:79077486C>T	ENST00000321300.6	+	8	920	c.827C>T	c.(826-828)cCc>cTc	p.P276L	BAIAP2_ENST00000575712.1_Missense_Mutation_p.P276L|BAIAP2_ENST00000321280.7_Missense_Mutation_p.P276L|BAIAP2_ENST00000416299.2_Missense_Mutation_p.P139L|BAIAP2_ENST00000435091.3_Missense_Mutation_p.P276L|BAIAP2_ENST00000392411.3_Missense_Mutation_p.P198L|BAIAP2_ENST00000428708.2_Missense_Mutation_p.P276L|BAIAP2_ENST00000575245.1_Missense_Mutation_p.P309L	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	276					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGGGCCAAGCCCCTGCCGGTG	0.682000													11	10					0	0	0.00244969	0	0
RHBDL3	162494	broad.mit.edu	37	17	30648009	30648009	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:30648009C>T	ENST00000269051.4	+	9	990	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C	RHBDL3_ENST00000538145.1_Missense_Mutation_p.R318C|RHBDL3_ENST00000536287.1_Missense_Mutation_p.R228C	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	326					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				CGTGTGGCTCCGCTTCCACCC	0.662000													13	28					0	0	0.00136819	0	0
THSD4	79875	broad.mit.edu	37	15	72037448	72037448	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:72037448C>T	ENST00000355327.3	+	12	2044	c.1910C>T	c.(1909-1911)tCg>tTg	p.S637L	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.S637L|THSD4_ENST00000357769.4_Missense_Mutation_p.S277L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	637						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTTGCAGGATCGCAGTACCCT	0.547000													90	116					0	0	0.000781405	0	0
RIMS2	9699	broad.mit.edu	37	8	104898127	104898127	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:104898127C>T	ENST00000507740.1	+	2	960	c.724C>T	c.(724-726)Cct>Tct	p.P242S	RIMS2_ENST00000406091.3_Missense_Mutation_p.P434S|RIMS2_ENST00000436393.2_Missense_Mutation_p.P212S|RIMS2_ENST00000262231.10_Missense_Mutation_p.P242S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	465					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCATAGTCCTCCTACCCCCAG	0.488000										HNSCC(12;0.0054)			25	33					0	0	0.00278032	0	0
MUC16	94025	broad.mit.edu	37	19	9066772	9066772	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:9066772C>T	ENST00000397910.4	-	3	20877	c.20674G>A	c.(20674-20676)Gaa>Aaa	p.E6892K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6894	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGTGGTTTCCACATTAGTC	0.488000													38	100					0	0	0.00128727	0	0
MYH4	4622	broad.mit.edu	37	17	10361017	10361017	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:10361017C>T	ENST00000255381.2	-	16	1727	c.1617G>A	c.(1615-1617)gaG>gaA	p.E539E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	539	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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						ACATGCACTCCTCTTCTAGGA	0.438000													21	64					0	0	0.00229938	0	0
ACVR1C	130399	broad.mit.edu	37	2	158412824	158412824	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:158412824G>A	ENST00000243349.7	-	3	685	c.325C>T	c.(325-327)Ctt>Ttt	p.L109F	ACVR1C_ENST00000409680.3_Missense_Mutation_p.L59F|ACVR1C_ENST00000335450.7_Intron|ACVR1C_ENST00000348328.5_Intron	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	109					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATGGGTCCAAGTTTTGGGGCA	0.438000													17	36					0	0	0.00121646	0	0
ZNF592	9640	broad.mit.edu	37	15	85326156	85326156	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:85326156G>A	ENST00000299927.3	+	1	272	c.250G>A	c.(250-252)Gac>Aac	p.D84N	ZNF592_ENST00000560079.2_Missense_Mutation_p.D84N			Q92610	ZN592_HUMAN	zinc finger protein 592	84					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)			AGCGGAGAAAGACCACATTAC	0.512000													14	37					0	0	0.00244969	0	0
PIGA	5277	broad.mit.edu	37	X	15344095	15344095	+	Silent	SNP	T	T	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:15344095T>C	ENST00000333590.4	-	3	873	c.789A>G	c.(787-789)ggA>ggG	p.G263G	PIGA_ENST00000428964.1_5'UTR|PIGA_ENST00000542278.1_Silent_p.G29G|PIGA_ENST00000482148.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	263					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TTGGTCCCTCTCCTCCAATTA	0.373000													36	50					0	0	0.00058488	0	0
BRD4	23476	broad.mit.edu	37	19	15350809	15350809	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:15350809G>C	ENST00000263377.2	-	15	3415	c.3194C>G	c.(3193-3195)cCg>cGg	p.P1065R		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1065					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TATCATAAGCGGGGAGGGGGC	0.562000			T	C15orf55	lethal midline carcinoma of young people								6	27					0	0	0.000157383	0	0
XIRP2	129446	broad.mit.edu	37	2	168100212	168100212	+	Silent	SNP	A	A	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:168100212A>C	ENST00000409195.1	+	9	2399	c.2310A>C	c.(2308-2310)gcA>gcC	p.A770A	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.A770A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.A548A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	595					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAGAACAGCACGGTGGATGT	0.383000													21	30					0	0	0.00188189	0	0
OR10G2	26534	broad.mit.edu	37	14	22102909	22102909	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:22102909G>A	ENST00000542433.1	-	1	187	c.90C>T	c.(88-90)ctC>ctT	p.L30L		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCAGGAAGAGGAGGCTTCTTA	0.502000													28	42					0	0	0.001512	0	0
FAM50A	9130	broad.mit.edu	37	X	153678387	153678387	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:153678387C>T	ENST00000393600.3	+	11	950	c.840C>T	c.(838-840)ttC>ttT	p.F280F		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	280					spermatogenesis	nucleus				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	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)					GACCACTCTTCAACTTTGATG	0.622000											OREG0003609	type=REGULATORY REGION|Gene=FAM50A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	17					0	0	0.000422831	0	0
CHI3L2	1117	broad.mit.edu	37	1	111783990	111783990	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:111783990G>A	ENST00000445067.2	+	11	1731	c.960G>A	c.(958-960)caG>caA	p.Q320Q	CHI3L2_ENST00000369748.4_Silent_p.Q320Q|CHI3L2_ENST00000369744.2_Silent_p.Q310Q|CHI3L2_ENST00000529459.1_3'UTR|CHI3L2_ENST00000524472.1_Silent_p.Q241Q|CHI3L2_ENST00000466741.1_Silent_p.Q241Q			Q15782	CH3L2_HUMAN	chitinase 3-like 2	320					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CGCGGCTCCAGGATCAACAGG	0.532000													34	35					0	0	0.00283554	0	0
TPTE	7179	broad.mit.edu	37	21	10916473	10916473	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr21:10916473C>T	ENST00000298232.7	-	19	1486	c.1119G>A	c.(1117-1119)aaG>aaA	p.K373K	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000361285.4_Silent_p.K391K|TPTE_ENST00000342420.5_Silent_p.K353K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	391	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAACATATCTCTTCTGAAAAG	0.338000													20	38					0	0	0.00152264	0	0
FGFR4	2264	broad.mit.edu	37	5	176517572	176517572	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:176517572C>T	ENST00000292408.4	+	3	518	c.273C>T	c.(271-273)ttC>ttT	p.F91F	FGFR4_ENST00000393648.2_Silent_p.F91F|FGFR4_ENST00000502906.1_Silent_p.F91F|FGFR4_ENST00000393637.1_Silent_p.F91F|FGFR4_ENST00000292410.3_Silent_p.F91F	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	91	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	TTGCCAGCTTCCTACCTGAGG	0.627000										TSP Lung(9;0.080)			13	15					0	0	0.00136819	0	0
SPEF2	79925	broad.mit.edu	37	5	35806838	35806838	+	Silent	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:35806838G>A	ENST00000440995.2	+	35	5025	c.5025G>A	c.(5023-5025)gaG>gaA	p.E1675E	SPEF2_ENST00000303129.4_Silent_p.E477E|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.E1680E			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1680					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			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)			GTCCAGCTGAGGAATTTCCTG	0.393000													6	49					0	0	0.00198382	0	0
GMPPA	29926	broad.mit.edu	37	2	220370427	220370427	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:220370427C>T	ENST00000373917.3	+	9	1074	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L	GMPPA_ENST00000358215.3_Intron|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Intron|GMPPA_ENST00000373908.1_Intron|GMPPA_ENST00000313597.5_Intron			Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	285					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GGCCTCTCTTCTGCTTCTAGG	0.587000													12	23					0	0	0.00244969	0	0
HHATL	57467	broad.mit.edu	37	3	42739839	42739839	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:42739839C>T	ENST00000441594.1	-	6	749	c.488G>A	c.(487-489)gGg>gAg	p.G163E	HHATL_ENST00000310417.5_Missense_Mutation_p.G163E	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	163					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TGTTACAAACCCGCTCTGGAG	0.577000													14	24					0	0	0.00244969	0	0
ATF7IP	55729	broad.mit.edu	37	12	14578322	14578322	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:14578322C>T	ENST00000544627.1	+	2	1817	c.1497C>T	c.(1495-1497)gcC>gcT	p.A499A	ATF7IP_ENST00000261168.4_Silent_p.A491A|ATF7IP_ENST00000540793.1_Silent_p.A491A|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Silent_p.A491A|ATF7IP_ENST00000543189.1_Silent_p.A491A			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	491	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CAAAAGAAGCCTTTCTGGTCC	0.383000													10	33					0	0	0.000442599	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22862018	22862018	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:22862018C>T	ENST00000251822.6	+	2	608	c.71C>T	c.(70-72)gCc>gTc	p.A24V	RHOBTB2_ENST00000522948.1_Missense_Mutation_p.A31V|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.A46V|RHOBTB2_ENST00000523918.1_3'UTR	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	24	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGGGACAACGCCGTGGGTAAG	0.582000											OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	21					0	0	0.000442599	0	0
FSD1	79187	broad.mit.edu	37	19	4318404	4318404	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:4318404C>T	ENST00000221856.6	+	9	1008	c.861C>T	c.(859-861)tcC>tcT	p.S287S	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Silent_p.S287S	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	287	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGATCTCTCCGTGGAGTGGG	0.627000													8	15					0	0	0.000274275	0	0
CYP2C9	1559	broad.mit.edu	37	10	96745846	96745846	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:96745846C>T	ENST00000260682.6	+	8	1218	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	402					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AAGAATTTCCCAACCCAGAGA	0.373000													38	26					0	0	0.00128727	0	0
LRP1B	53353	broad.mit.edu	37	2	141081480	141081480	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:141081480G>A	ENST00000389484.3	-	81	13467	c.12496C>T	c.(12496-12498)Cgt>Tgt	p.R4166C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4166					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R4166C(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)		TGTTTATAACGATGAGATATC	0.244000										TSP Lung(27;0.18)			27	68					0	0	0.00106085	0	0
POM121L12	285877	broad.mit.edu	37	7	53103409	53103409	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:53103409C>T	ENST00000408890.4	+	1	61	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	15										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCGGGAACTTCTGGAAGGCGG	0.706000													4	5					0	0	0.00024832	0	0
TBC1D31	93594	broad.mit.edu	37	8	124117616	124117616	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:124117616G>A	ENST00000287380.1	+	8	1211	c.1121G>A	c.(1120-1122)aGa>aAa	p.R374K	TBC1D31_ENST00000521676.1_Missense_Mutation_p.R269K|TBC1D31_ENST00000518805.1_Missense_Mutation_p.R7K|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R269K|TBC1D31_ENST00000378080.2_Missense_Mutation_p.R269K|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R374K|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R374K	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		ACATCAGGGAGAGTACAGCAG	0.358000													14	19					0	0	0.00244969	0	0
NLRP9	338321	broad.mit.edu	37	19	56244857	56244857	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:56244857C>T	ENST00000332836.2	-	2	367	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	114						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGACAGGTTTCCTTCTCCCAT	0.378000													29	63					0	0	0.000692331	0	0
NQO1	1728	broad.mit.edu	37	16	69746963	69746963	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:69746963C>A	ENST00000320623.5	-	5	998	c.487G>T	c.(487-489)Ggg>Tgg	p.G163W	NQO1_ENST00000439109.2_Intron|NQO1_ENST00000561500.1_Missense_Mutation_p.G125W|NQO1_ENST00000379046.2_Missense_Mutation_p.G125W|NQO1_ENST00000564043.1_Missense_Mutation_p.G142W|NQO1_ENST00000379047.3_Intron	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	163					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity	p.G163W(1)		autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	TTCATGTCCCCGTGGATCCCT	0.443000													6	118					0.000274275	0.00114163	0.000274275	1	0
PMFBP1	83449	broad.mit.edu	37	16	72164148	72164148	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:72164148C>T	ENST00000537465.1	-	12	1919	c.1761G>A	c.(1759-1761)atG>atA	p.M587I	PMFBP1_ENST00000355636.6_Missense_Mutation_p.M437I|PMFBP1_ENST00000237353.10_Missense_Mutation_p.M582I			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	587										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CATTCATTTTCATATCCTGCT	0.463000													21	65					0	0	0.00278032	0	0
TOM1L1	10040	broad.mit.edu	37	17	53014064	53014064	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:53014064C>T	ENST00000575882.1	+	9	1262	c.909C>T	c.(907-909)gcC>gcT	p.A303A	TOM1L1_ENST00000348161.4_Silent_p.A226A|TOM1L1_ENST00000572158.1_Silent_p.A296A|TOM1L1_ENST00000570371.1_Silent_p.A303A|TOM1L1_ENST00000536554.1_Silent_p.A226A|TOM1L1_ENST00000540336.1_Silent_p.A191A|TOM1L1_ENST00000445275.2_Silent_p.A303A|TOM1L1_ENST00000575333.1_Silent_p.A303A	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	303					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			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						AGAAGGAAGCCACCAATGTAA	0.303000													5	37					0	0	0.000602214	0	0
PLD1	5337	broad.mit.edu	37	3	171427470	171427470	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:171427470C>T	ENST00000356327.5	-	10	1011	c.941G>A	c.(940-942)aGa>aAa	p.R314K	PLD1_ENST00000351298.4_Missense_Mutation_p.R314K|PLD1_ENST00000342215.6_Missense_Mutation_p.R314K|PLD1_ENST00000340989.4_Missense_Mutation_p.R314K	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	314	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CCGAGCATGTCTATAGCTGTT	0.383000													25	53					0	0	0.000720815	0	0
OR2H1	26716	broad.mit.edu	37	6	29430399	29430399	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:29430399C>T	ENST00000377136.1	+	4	1318	c.853C>T	c.(853-855)Cct>Tct	p.P285S	OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377133.1_Missense_Mutation_p.P285S|OR2H1_ENST00000396792.2_Missense_Mutation_p.P285S|OR2H1_ENST00000442615.1_Missense_Mutation_p.P285S|OR2H1_ENST00000377132.1_Missense_Mutation_p.P285S			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						TTCACTTAACCCTCTCGTATA	0.502000													31	22					0	0	0.001512	0	0
KLRC3	3823	broad.mit.edu	37	12	10571009	10571009	+	Silent	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:10571009C>T	ENST00000396439.2	-	4	464	c.420G>A	c.(418-420)gaG>gaA	p.E140E	KLRC3_ENST00000381903.2_Silent_p.E140E|KLRC3_ENST00000381904.2_Silent_p.E140E|NKG2-E_ENST00000539033.1_Silent_p.E140E	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CCTGCAAACTCTCTTCCCAAG	0.353000													23	89					0	0	0.00106085	0	0
GALNT10	55568	broad.mit.edu	37	5	153755896	153755896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:153755896C>T	ENST00000297107.6	+	5	765	c.628C>T	c.(628-630)Cga>Tga	p.R210*	GALNT10_ENST00000425427.2_Nonsense_Mutation_p.R210*|GALNT10_ENST00000377661.2_Intron|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	210	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R210*(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GAGGATTCTTCGAACCAAGAA	0.502000													23	48					0	0	0.00229938	0	0
FGF1	2246	broad.mit.edu	37	5	141993542	141993542	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:141993542C>T	ENST00000359370.6	-	2	230	c.151G>A	c.(151-153)Gac>Aac	p.D51N	FGF1_ENST00000378046.1_Missense_Mutation_p.D51N|FGF1_ENST00000407758.1_Missense_Mutation_p.D51N|FGF1_ENST00000494579.1_Intron|FGF1_ENST00000337706.2_Missense_Mutation_p.D51N|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000360966.5_Missense_Mutation_p.D51N|FGF1_ENST00000419524.2_Missense_Mutation_p.D51N|AC005592.2_ENST00000414314.1_RNA	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	51					angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	TCGCTCCTGTCCCTTGTCCCA	0.542000													10	14					0	0	0.000978159	0	0
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													3	5	---	---	---	---					
CAPN2	824	broad.mit.edu	37	1	223900573	223900573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:223900573delC	ENST00000295006.5	+	1	540	c.231delC	c.(229-231)cgfs	p.R77fs	CAPN2_ENST00000433674.2_Intron	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	77	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		AGTGGAAGCGCCCCACGGTAG	0.766													2	4	---	---	---	---					
MCF2L2	23101	broad.mit.edu	37	3	182925526	182925547	+	Frame_Shift_Del	DEL	TCCTTCATTTTATAACGATCCT	TCCTTCATTTTATAACGATCCT	-	rs142012093	by1000genomes	TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:182925526_182925547delTCCTTCATTTTATAACGATCCT	ENST00000328913.3	-	23	2858_2879	c.2561_2582delAGGATCGTTATAAAATGAAGGA	c.(2560-2583)atfs	p.KDRYKMKD854fs	MCF2L2_ENST00000473233.1_Frame_Shift_Del_p.KDRYKMKD854fs	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	854	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCGAATCAAATCCTTCATTTTATAACGATCCTTGTGAATTGT	0.428													10	69	---	---	---	---					
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cfs	p.H479fs	FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584													3	5	---	---	---	---					
KDR	3791	broad.mit.edu	37	4	55955941	55955941	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:55955941delG	ENST00000263923.4	-	24	3516	c.3221delC	c.(3220-3222)cafs	p.P1074fs	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1074	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AATTGTTTCTGGGGCCATCCA	0.408			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			47	38	---	---	---	---					
BTN2A3P	54718	broad.mit.edu	37	6	26428209	26428210	+	RNA	INS	-	-	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:26428209_26428210insA	ENST00000466808.2	+	0	1178_1179																											TCTCCAAAAGGAAAAAAAAGAT	0.416													7	46	---	---	---	---					
SLC35F1	222553	broad.mit.edu	37	6	118475765	118475765	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:118475765delA	ENST00000360388.4	+	2	532	c.331delA	c.(331-333)cafs	p.T111fs		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	111					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CTATACCACCACACTAGCCGT	0.413													22	104	---	---	---	---					
PMS2P3	5387	broad.mit.edu	37	7	75142142	75142142	+	RNA	DEL	A	A	-	rs35519730		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:75142142delA	ENST00000418756.1	-	0	991					NR_028059.1															lung(1)	1						tctcaaaaagaaaaaaaaaaa	0.418													3	4	---	---	---	---					
NUP205	23165	broad.mit.edu	37	7	135262632	135262633	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:135262632_135262633delCT	ENST00000285968.6	+	6	763_764	c.737_738delCT	c.(736-738)afs	p.T246fs	NUP205_ENST00000440390.2_Frame_Shift_Del_p.T40fs	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	246					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AAAGAAGACACTCTCCTCCTCA	0.450													9	41	---	---	---	---					
LRSAM1	90678	broad.mit.edu	37	9	130248022	130248024	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:130248022_130248024delGCA	ENST00000323301.4	+	16	1771_1773	c.1167_1169delGCA	c.(1165-1170)atg>at	p.MQ389del	LRSAM1_ENST00000373324.4_In_Frame_Del_p.MQ389del|LRSAM1_ENST00000300417.6_In_Frame_Del_p.MQ389del|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_In_Frame_Del_p.MQ389del	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	389					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CAGCCGCCATGCAGCAGATGCTG	0.591													21	35	---	---	---	---					
GBGT1	26301	broad.mit.edu	37	9	136029060	136029061	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:136029060_136029061delGG	ENST00000372040.3	-	7	1258_1259	c.947_948delCC	c.(946-948)cfs	p.P316fs	RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000372043.3_3'UTR|GBGT1_ENST00000540636.1_Frame_Shift_Del_p.P299fs|GBGT1_ENST00000472281.1_5'UTR					globoside alpha-1,3-N-acetylgalactosaminyltransferase 1									p.P316P(1)		breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		AGAGGTACTCGGGGGACAGCAC	0.589													24	97	---	---	---	---					
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285																											CAGCACCCCATGGGGGGGCCCT	0.500													4	5	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													4	2	---	---	---	---					
OR5D13	390142	broad.mit.edu	37	11	55541445	55541445	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:55541445delA	ENST00000361760.1	+	1	532	c.532delA	c.(532-534)atfs	p.N178fs		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTTCATAAATAATTTTATCTG	0.408													16	48	---	---	---	---					
SLITRK5	26050	broad.mit.edu	37	13	88330160	88330161	+	Frame_Shift_Ins	INS	-	-	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr13:88330160_88330161insC	ENST00000325089.6	+	2	2736_2737	c.2517_2518insC	c.(2515-2520)gacccgfs	p.DP839fs	SLITRK5_ENST00000400028.3_Frame_Shift_Ins_p.DP598fs	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	839						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCACCATCGAGCCCCGGGAGGA	0.673													11	4	---	---	---	---					
TSHR	7253	broad.mit.edu	37	14	81609513	81609513	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:81609513delA	ENST00000541158.2	+	11	1433	c.1111delA	c.(1111-1113)aafs	p.K371fs	TSHR_ENST00000298171.2_Frame_Shift_Del_p.K371fs|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	371					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			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)	CCAGGAGCTCAAAAACCCCCA	0.448			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						13	47	---	---	---	---					
HMGN2P46	283651	broad.mit.edu	37	15	45848231	45848231	+	RNA	DEL	T	T	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:45848231delT	ENST00000409454.1	+	0	1226																											TTTGTTTAGCTTTTTTTTTTT	0.323													5	7	---	---	---	---					
BRCA1	672	broad.mit.edu	37	17	41244539	41244540	+	Frame_Shift_Del	DEL	AA	AA	-	rs80357617		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:41244539_41244540delAA	ENST00000309486.4	-	9	3147_3148	c.2120_2121delTT	c.(2119-2121)tfs	p.F707fs	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000493795.1_Frame_Shift_Del_p.F956fs|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000357654.3_Frame_Shift_Del_p.F1003fs|BRCA1_ENST00000346315.3_Frame_Shift_Del_p.F1003fs|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Frame_Shift_Del_p.F1003fs|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Frame_Shift_Del_p.F1003fs|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1003					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AATGTTCCTCAAAGTTTTCCTC	0.332			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			24	89	---	---	---	---					
ANKFN1	162282	broad.mit.edu	37	17	54428180	54428181	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:54428180_54428181insA	ENST00000566473.2	+	4	251_252	c.251_252insA	c.(250-252)taafs	p.*84fs	ANKFN1_ENST00000318698.2_Frame_Shift_Ins_p.*84fs			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	84										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CTCTGTCAGTCAAAAAAACATA	0.426													17	31	---	---	---	---					
P2RX6P	440799	broad.mit.edu	37	22	21399220	21399221	+	RNA	INS	-	-	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:21399220_21399221insC	ENST00000439119.1	-	0	51					NR_002829.1																						TCTGCAGGGCGCCCCCCCACCA	0.599													42	101	---	---	---	---