Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MAGI1_chr3_65348526_66043918	65610742	G G	GTATATAC others(40): Show GTATATACTATATACTATATATATATATATATATATATACTATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0012 a0004c0004t0012	a0004c0004t0012g0103 a0004c0004t0012g0103	1	104	0.0096	47	c.430 others(66): Show c.430+11229_430+11230insTATATATAGTATATATATATATATAT ATATATAGTATATAGTATATA	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	2/22			chr3	TogoVar
MAGOH_chr1_53221900_53243518	53237192	G G	GACCCGCC others(40): Show GACCCGCCCCCTCCGCCCGGCACCCTCCCCCCGCCCCCCCCCGGCACC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	438	0.0023	47	c.88+ others(62): Show c.88+1168_88+1169insGGTGCCGGGGGGGGGCGGGGGGAGGGTGCC GGGCGGAGGGGGCGGGT	MAGOH	ENSG00000162385.11	transcript	ENST00000371470.8	protein_coding	1/4			chr1	TogoVar
MAN1C1_chr1_25611791_25789450	25644518	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0155 a0001c0002t0003g0155	1	250	0.0040	47	c.540 others(66): Show c.540+26182_540+26183insATATATATATATATATATATATATAT ATATATATATATATTTTTTTT	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP1LC3B2_chr12_116554381_116581606	116558665	C C	CAGAGACA others(40): Show CAGAGACAACGTGCCTTTAGGTGATAGAGCTAGGACTGGAACCCAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0062 a0001c0001t0008g0062	1	446	0.0022	47	c.-87 others(56): Show c.-870_-869insAGAGACAACGTGCCTTTAGGTGATAGAGCTAGGACT GGAACCCAAGT	MAP1LC3B2	ENSG00000258102.5	transcript	ENST00000556529.4	protein_coding		715		chr12	TogoVar
MAP2K5_chr15_67537703_67812114	67575917	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	278	0.0036	47	c.253 others(64): Show c.253-4835_253-4834insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP3K13_chr3_185358136_185494094	185455645	A A	ATATATAT others(40): Show ATATATATGAGATATATATATCATATATATGAGATATATGATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0032 a0001c0015t0032	a0001c0015t0032g0044 a0001c0015t0032g0044	1	278	0.0036	47	c.127 others(66): Show c.1278+4250_1278+4251insTATATATGAGATATATATATCATATA TATGAGATATATGATATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13			chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185455650	T T	TATCTCAT others(40): Show TATCTCATATATATGATATATATGAGATATATATATCATATATATGAG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0002 a0009c0017t0002	a0009c0017t0002g0011 a0009c0017t0002g0011	1	278	0.0036	47	c.127 others(66): Show c.1278+4257_1278+4258insCTCATATATATGATATATATGAGATA TATATATCATATATATGAGAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19474969	G G	GAAAAAAA others(40): Show GAAAAAAATTTTTCCACGGACCAGGTGGGCAGGGGCAGGGAGGATGGT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0001 a0015c0014t0001	a0015c0014t0001g0025 a0015c0014t0001g0025	1	163	0.0061	47	c.526 others(66): Show c.526-10610_526-10564dupACCATCCTCCCTGCCCCTGCCCACCT GGTCCGTGGAAAAATTTTTTT	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K8_chr10_30429184_30466833	30432976	G G	GAGAGAGA others(40): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 NA20129.hp2 HG00280.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0129 a0001c0002t0001g0132	2	386	0.0052	47	c.-16 others(58): Show c.-1657_-1656insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1207		chr10	TogoVar
MAP3K8_chr10_30429184_30466833	30432978	G G	GAGAGAGA others(40): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA19074.hp2 NA18994.hp1 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0166 a0001c0002t0001g0159 a0001c0002t0001g0166	2	386	0.0052	47	c.-16 others(58): Show c.-1655_-1654insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1205		chr10	TogoVar
MAP4K4_chr2_101692707_101899690	101797889	G G	GTTTTTTT others(40): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	310	0.0032	47	c.180 others(64): Show c.180+7134_180+7135insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAPK11_chr22_50258713_50275380	50265879	A A	ACCCAGCC others(40): Show ACCCAGCCCACCCCCACTGCCCTGGCCAGGCACTGCTTGCTGGGGTCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG03041.hp2 others(2): Show HG01243.hp1 HG02258.hp2 HG03041.hp2 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0089 a0001c0001t0002g0019 a0001c0001t0002g0089	5	428	0.0117	47	c.763 others(62): Show c.763-266_763-220dupGGACCCCAGCAAGCAGTGCCTGGCCAGGGC AGTGGGGGTGGGCTGGG	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding	9/11			chr22	TogoVar
MAPK12_chr22_50247901_50266683	50265879	A A	ACCCAGCC others(40): Show ACCCAGCCCACCCCCACTGCCCTGGCCAGGCACTGCTTGCTGGGGTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG03041.hp1 others(2): Show HG01243.hp1 HG02258.hp1 HG03041.hp1 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0083 a0001c0001t0002g0015 a0001c0001t0002g0083	5	444	0.0113	47	c.-44 others(58): Show c.-4417_-4371dupGGACCCCAGCAAGCAGTGCCTGGCCAGGGCAGTG GGGGTGGGCTGGG	MAPK12	ENSG00000188130.14	transcript	ENST00000215659.13	protein_coding		4197		chr22	TogoVar
MAPKAP1_chr9_125432394_125712208	125624612	G G	GGGGGTTC others(40): Show GGGGGTTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0161	1	300	0.0033	47	c.498 others(66): Show c.498+33038_498+33039insACCTCCCTCCTGGACGGGGCGGCTGG CCGGGCGGGGGGCTGAACCCC	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11			chr9	TogoVar
MARS1_chr12_57483068_57521652	57493637	T T	TATATAAT others(40): Show TATATAATATATTATAATATATAATATATAATATATTATAATATATTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0226 a0001c0001t0001g0227	2	288	0.0069	47	c.770 others(64): Show c.770+2993_770+2994insATATAATATATTATAATATATAATATAT AATATATTATAATATATTA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20			chr12	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(40): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0221 a0001c0001t0116g0221	1	340	0.0029	47	c.41 others(58): Show c.4153_*4154insATATATATATATATATATATATATATATATATAT ATATTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(40): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0208 a0001c0001t0036g0208	1	340	0.0029	47	c.41 others(58): Show c.4153_*4154insATATATATATATATATATATATATATATATATAT ATATATTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAAAAAAA others(40): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0022 a0001c0001t0058g0022	1	340	0.0029	47	c.176 others(66): Show c.1768+1452_1768+1453insATATATATATATATATATATATATAT ATATATATATATATTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21888826	A A	ATATACAC others(40): Show ATATACACACATATATGTGTGTATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0134 a0001c0002t0002g0134	1	308	0.0033	47	c.61 others(58): Show c.6171_*6172insTATACACACATATATGTGTGTATATATATATATA TATATATATATAT	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding		3404		chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21888827	T T	TACACACA others(40): Show TACACACACATATATGTGTGTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01256.hp1 others(1): Show HG00323.hp2 HG00741.hp1 HG01256.hp1 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0069 a0001c0002t0002g0081 others(1): Show a0001c0002t0002g0045 a0001c0002t0002g0069 a0001c0002t0002g0081 a0001c0002t0002g0082	4	308	0.0130	47	c.61 others(58): Show c.6172_*6173insACACACACATATATGTGTGTATATATATATATAT ATATATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding		3405		chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21888827	T T	TATACACA others(40): Show TATACACACATATATGTGTGTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 NA18981.hp2 NA19000.hp1 HG02683.hp1 NA18981.hp2 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0057 a0001c0002t0002g0060 a0001c0002t0004g0006 a0001c0002t0002g0057 a0001c0002t0002g0060 a0001c0002t0004g0006	3	308	0.0097	47	c.61 others(58): Show c.6172_*6173insATACACACATATATGTGTGTATATATATATATAT ATATATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding		3405		chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21888827	T T	TATACACA others(40): Show TATACACACATATATGTGTGTGTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0072	1	308	0.0033	47	c.61 others(58): Show c.6172_*6173insATACACACATATATGTGTGTGTATATATATATAT ATATATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding		3405		chrX	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	428	0.0023	47	c.-25 others(58): Show c.-2544_-2543insAAAAAAAAAAAAAAAAAAATATATATATATATAT ATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCCC2_chr5_71582340_71663706	71597524	C C	CATAGGGT others(40): Show CATAGGGTAGTAGTAGTGGTGGTGGCAGGAGTGCAGGGTTCTGGATGT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0082 a0001c0011t0004g0082	1	350	0.0029	47	c.281 others(64): Show c.281+1163_281+1209dupAGGGTAGTAGTAGTGGTGGTGGCAGGAG TGCAGGGTTCTGGATGTAT	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
MCF2L_chr13_112964214_113104742	113091642	G G	GGGGCTGA others(40): Show GGGGCTGACGAGGCCGAGCTCCCTGTCCGACCCGGACCCTCCTTTCCC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0111 a0001c0003t0002g0111	1	116	0.0086	47	c.295 others(66): Show c.2953+1918_2953+1919insTGACGAGGCCGAGCTCCCTGTCCGAC CCGGACCCTCCTTTCCCGGGC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MDGA1_chr6_37625679_37702883	37664904	C C	CACACACA others(40): Show CACACACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0386 a0001c0001t0010g0386	1	402	0.0025	47	c.68- others(60): Show c.68-799_68-798insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGT	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	1/16			chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698231	T T	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0216 a0001c0001t0089g0216	1	402	0.0025	47	c.-14 others(58): Show c.-1421_-1420insGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAG	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		349		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698244	C C	CTCTCTCG others(40): Show CTCTCTCGCTCTCTCTCTCGCTCTCTCTCTCTCGCTCTCTCTCTCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0039 a0001c0001t0052g0039	1	402	0.0025	47	c.-14 others(58): Show c.-1434_-1433insCGAGAGAGAGAGAGCGAGAGAGAGAGAGCGAGAG AGAGAGCGAGAGA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		362		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698244	C C	CTCTCTCG others(40): Show CTCTCTCGCTCTCTCTCTCTCGCTCTCTCTCTCTCGCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0074 a0001c0001t0067g0074	1	402	0.0025	47	c.-14 others(58): Show c.-1434_-1433insAGAGAGAGAGAGCGAGAGAGAGAGAGCGAGAGAG AGAGAGCGAGAGA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		362		chr6	TogoVar
ME1_chr6_83205402_83436051	83237274	A A	AGAAAGAA others(40): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18967.hp2 HG02132.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0203 a0001c0001t0003g0253 a0001c0001t0002g0203 a0001c0001t0003g0253	2	272	0.0074	47	c.102 others(64): Show c.1026+442_1026+443insCTTCCTTTCTTTCTTTCTCTTTCTTTCT TTCTTTCTTTCTTTCTTTC	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	9/13			chr6	TogoVar
MEAF6_chr1_37484993_37519766	37517967	G G	GAGTGTTT others(40): Show GAGTGTTTCAAACCTACTCTGTGAAAGGGAATATTCAACTCTGTGACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0037 a0001c0001t0013g0037	1	428	0.0023	47	c.-32 others(58): Show c.-3222_-3221insAGTCACAGAGTTGAATATTCCCTTTCACAGAGTA GGTTTGAAACACT	MEAF6	ENSG00000163875.16	transcript	ENST00000296214.10	protein_coding		3202		chr1	TogoVar
MED12L_chr3_151080664_151441653	151141177	T T	TTTTTGTT others(40): Show TTTTTGTTTTGTTTTTTTTTTTTTTGTTTTTTGTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0009 a0001c0013t0009	a0001c0013t0009g0104 a0001c0013t0009g0104	1	280	0.0036	47	c.556 others(66): Show c.556+13193_556+13194insTTTTGTTTTGTTTTTTTTTTTTTTGT TTTTTGTTTTTTTTTTTTTTG	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44			chr3	TogoVar
MED16_chr19_862963_898187	871777	G G	GAGAGGGG others(40): Show GAGAGGGGGGAGCGGGGAGAGGGGAGAGGGGAGAGCGGGGAGAGGGGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0013 a0002c0003t0001g0013	1	56	0.0179	47	c.209 others(64): Show c.2098+148_2098+149insTCCCCTCTCCCCGCTCTCCCCTCTCCCC TCTCCCCGCTCCCCCCTCT	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar
MELTF_chr3_196996740_197034817	197000591	A A	ACCGTGTG others(40): Show ACCGTGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01175.hp2 HG01358.hp1 others(8): Show HG01070.hp1 HG01175.hp2 HG01358.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02293.hp1 HG02809.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0018 others(2): Show a0001c0001 a0001c0002 a0001c0018 a0001c0020 a0010c0031	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0018t0001 a0001c0020t0001 a0010c0031t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0135 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0135 a0001c0001t0002g0231 a0001c0002t0004g0149 a0001c0018t0001g0219 a0001c0020t0001g0220 a0010c0031t0001g0232	11	420	0.0262	47	c.27 others(58): Show c.2734_*2780dupCATAGAGTCTAAGACACAAAACACTCAGCACAGT GCTTGGCACACGG	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		1148		chr3	TogoVar
MELTF_chr3_196996740_197034817	197000594	G G	GTGTGCCA others(40): Show GTGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0053 a0001c0002t0006g0053	2	420	0.0048	47	c.27 others(58): Show c.2731_*2777dupTGGCATAGAGTCTAAGACACAAAACACTCAGCAC AGTGCTTGGCACA	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		1145		chr3	TogoVar
MELTF_chr3_196996740_197034817	197000735	G G	GTGTGCCA others(40): Show GTGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0164 a0002c0004t0007g0164	1	420	0.0024	47	c.26 others(58): Show c.2636_*2637insTGGCATAGAGTCTAAGACACAAAACACTCAGCAC AGTGCTTGGCACA	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		1004		chr3	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAAAA others(40): Show AACAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0096 a0001c0001t0066g0096	1	488	0.0021	47	c.67 others(56): Show c.671_*672insATATATATATATATATATATATATATATATATATTT TTTTTTTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL9_chr16_21594577_21662471	21622141	C C	CTTTTTTT others(40): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA21309.hp2 NA18939.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0160 a0001c0001t0001g0076 a0001c0001t0001g0160	2	364	0.0055	47	c.567 others(64): Show c.567-2769_567-2768insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	METTL9	ENSG00000197006.15	transcript	ENST00000358154.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
MFSD6_chr2_190403355_190507314	190430864	C C	CGGGCGGG others(40): Show CGGGCGGGGCGGCCGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03225.hp1 HG03471.hp1 HG02280.hp1 HG03225.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0008 a0002c0002t0005 a0002c0002t0008	a0002c0002t0005g0149 a0002c0002t0005g0218 a0002c0002t0008g0211 a0002c0002t0005g0149 a0002c0002t0005g0218 a0002c0002t0008g0211	3	344	0.0087	47	c.-53 others(64): Show c.-53-5111_-53-5110insGCGGGGCGGCCGGCCGGGCGGGGGCTGA CCCCCCACCTCCCTCCTGG	MFSD6	ENSG00000151690.15	transcript	ENST00000392328.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAM2_chr7_142106718_142227324	142114223	A A	AAGGAAGG others(40): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0312 a0002c0003t0001g0312	1	329	0.0030	47	c.-1+ others(62): Show c.-1+2417_-1+2418insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAGGGA	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAT5B_chr17_76863404_76955393	76925868	G G	GGGAGGGC others(40): Show GGGAGGGCAGAGGGGGTGGCTCTGGGGCTGTGGCCCATTGAGAATGGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0242 a0002c0006t0004g0242	1	278	0.0036	47	c.115 others(64): Show c.1158-728_1158-682dupGGAGGGCAGAGGGGGTGGCTCTGGGGCT GTGGCCCATTGAGAATGGC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MIA2_chr14_39228915_39355694	39285429	C C	CCCCCCCA others(40): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19054.hp2 NA18960.hp2 NA19054.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0346 a0007c0018t0001g0347 a0007c0018t0001g0346 a0007c0018t0001g0347	2	368	0.0054	47	c.213 others(66): Show c.2131-5580_2131-5579insCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGCTGACCCCCCACCT	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MICU1_chr10_72362340_72631079	72535012	T T	TTTTTATA others(40): Show TTTTTATATTTTATTATTTTATTTTATCTCATCTTATCTTATCTTATC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	208	0.0048	47	c.494 others(64): Show c.494-1224_494-1223insGATAAGATAAGATAAGATGAGATAAAAT AAAATAATAAAATATAAAA	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	4/11			chr10	TogoVar
MID1_chrX_10440556_10625585	10533352	G G	GAAAGAAA others(40): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0053 a0001c0001t0005g0053	1	165	0.0061	47	c.661 others(66): Show c.661-10166_661-10165insTCTTTCTTTCTTTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTT	MID1	ENSG00000101871.18	transcript	ENST00000317552.9	protein_coding	2/9			chrX	TogoVar
MINAR1_chr15_79427336_79477304	79437806	T T	TGTGTGGA others(40): Show TGTGTGGAGTGTGGGGTTGGTAGTGTGTGGGGCGTGGGTGTGTGTAGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0029 a0003c0029	a0003c0029t0005 a0003c0029t0005	a0003c0029t0005g0178 a0003c0029t0005g0178	1	390	0.0026	47	c.-51 others(64): Show c.-51+5267_-51+5268insTGTGGAGTGTGGGGTTGGTAGTGTGTGG GGCGTGGGTGTGTGTAGGG	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MINAR1_chr15_79427336_79477304	79439016	T T	TGGGGTGG others(40): Show TGGGGTGGATAGTGGGTGGGTGTGGGTGGGGTGGGCAGTGAGTGTGCG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0273 a0001c0002t0002g0273	1	390	0.0026	47	c.-51 others(64): Show c.-51+6479_-51+6480insGTGGATAGTGGGTGGGTGTGGGTGGGGT GGGCAGTGAGTGTGCGGGG	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MINAR1_chr15_79427336_79477304	79439047	A A	ATGGGGTA others(40): Show ATGGGGTAGGTAGTGTGTGGGGTGTGGGTGGGATGGGTAGTAAGGGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG01943.hp1 others(9): Show HG00438.hp2 HG00597.hp2 HG01943.hp1 HG02717.hp2 HG04115.hp2 HG04204.hp1 NA18948.hp2 NA19000.hp1 NA19068.hp1 NA19083.hp1 NA19087.hp2 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005 a0003c0029	a0001c0001t0001 a0001c0002t0002 a0001c0004t0004 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0004 a0003c0005t0003 a0003c0029t0005	a0001c0001t0001g0110 a0001c0001t0001g0199 a0001c0001t0001g0228 others(9): Show a0001c0001t0001g0110 a0001c0001t0001g0199 a0001c0001t0001g0228 a0001c0001t0001g0239 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0002t0002g0206 a0001c0004t0004g0170 a0001c0004t0004g0252 a0003c0005t0003g0248 a0003c0029t0005g0178	12	390	0.0308	47	c.-51 others(64): Show c.-51+6513_-51+6514insAGGTAGTGTGTGGGGTGTGGGTGGGATG GGTAGTAAGGGTGTGGGGT	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MLPH_chr2_237482251_237560322	237543820	G G	GACAGTAG others(40): Show GACAGTAGTGAGTAGGGGACAGTGGTGAGTTGGGGCACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0130 a0004c0005t0001g0130	1	286	0.0035	47	c.153 others(66): Show c.1539+1161_1539+1162insACAGTAGTGAGTAGGGGACAGTGGTG AGTTGGGGCACAGTGGTGAGT	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLXIP_chr12_122073756_122152344	122121010	G G	GTTTTTTT others(40): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0246 a0002c0002t0002g0246	1	354	0.0028	47	c.414 others(64): Show c.414-6228_414-6227insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
MMD2_chr7_4900998_4964187	4958915	C C	CCCGCCGC others(40): Show CCCGCCGCCGCGCGCCCCTCCCTCCCTCCCCGCGGACCTCCGCGGCCG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0365 a0001c0002t0008g0365	1	382	0.0026	47	c.47+ others(57): Show c.47+9_47+55dupCGGCCGCGGAGGTCCGCGGGGAGGGAGGGAGGGGC GCGCGGCGGCGG	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6			chr7	TogoVar

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