Cobalamin Missence Mutation Data

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Gene Symbol	Chromosome	Start	End	rs ID	Strand	NCBI ref	Observed	Function	Submitter Count	Submitter	Frequency Count	Allele Frequency
MTR	chr1	236966877	236966878	rs61736442	+	C	C/T	missense	1	CORNELL,	2	0.987179
MTR	chr1	237060371	237060372	rs61739582	+	A	A/G	missense	8	1000GENOMES,BUSHMAN,CLINSEQ_SNP,CORNELL,EXOME_CHIP,ILLUMINA,NHLBI-ESP,TISHKOFF,	2	0.980419
ABCD4	chr14	74764674	74764675	rs61744947	+	G	A/G	ncRNA,missense	10	1000GENOMES,BUSHMAN,CLINSEQ_SNP,CORNELL,EXOME_CHIP,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SEATTLESEQ,TISHKOFF,	2	0.066844
MMADHC	chr2	150433016	150433017	rs61746421	+	C	C/T	missense	5	1000GENOMES,CORNELL,EXOME_CHIP,ILLUMINA,NHLBI-ESP,	2	0.988673
CUBN	chr10	16967585	16967586	rs62619939	+	C	C/G	missense	12	1000GENOMES,APPLERA_GI,BL,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,SEATTLESEQ,SSMP,TISHKOFF,	2	0.877768
MMACHC	chr1	45973123	45973124	rs6662272	+	G	C/G	missense	7	1000GENOMES,BCM_SSAHASNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF,	2	0.023084
CUBN	chr10	16989270	16989271	rs74116778	+	C	C/T	missense	8	1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SEATTLESEQ,TISHKOFF,	2	0.941283
CUBN	chr10	17171655	17171656	rs76788243	+	T	G/T	missense	7	1000GENOMES,BUSHMAN,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF,	2	0.04262
CUBN	chr10	16877079	16877080	rs7898873	+	G	C/G	missense	16	1000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PJP,SEATTLESEQ,TISHKOFF,WI_SSAHASNP,	2	0.076828
CUBN	chr10	17126382	17126383	rs7905349	+	G	A/G	missense	15	1000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,EXOME_CHIP,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SI_EXO,TISHKOFF,WI_SSAHASNP,	2	0.091189
MUT	chr6	49403281	49403282	rs8589	-	T	A/G	missense	27	1000GENOMES,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,ILLUMINA,KRIBB_YJKIM,LEE,MGC_GENOME_DIFF,NHLBI-ESP,PERLEG	4	0.338245
MMAB	chr12	109994869	109994870	rs9593	-	A	A/T	ncRNA,missense	31	1000GENOMES,ABI,AFFY,APPLERA_GI,BCMHGSC_JDW,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,LEE,NHLBI-ESP,PERLEGEN,PJP,R	2	0.569135

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