Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KIF17_chr1_20659014_20723007	20712823	G G	GATATTGT others(167): Show GATATTGTCTATATTATAGATATTATCTATAATATAGATAATATTATCTA TATCTATAATATAGATAATATTATCTATATCTATAATATAGATAATATTA TCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAAT ATTATCTATATCTATAATATAGATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0199 a0002c0016t0001g0199	1	414	0.0024	174	c.480 others(189): Show c.480+630_480+631insTATCTATATTATAGATATAGATAATATTAT CTATATTATAGATATAGATAATATTATCTATATTATAGATATAGATAATA TTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATAGAT AATATTATCTATATTATAGATAATATCTATAATATAGACAATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF17_chr1_20659014_20723007	20712841	G G	GATATTAT others(167): Show GATATTATCTATAATATAGATAATATTATCTATATCTATAATATAGATAA TATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAG ATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAAT ATAGATAATATTATCTATATCTATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	414	0.0024	174	c.480 others(189): Show c.480+612_480+613insTATAGATATAGATAATATTATCTATATTAT AGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATA TTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATC TATATTATAGATATAGATAATATTATCTATATTATAGATAATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF17_chr1_20659014_20723007	20712841	G G	GATATTAT others(167): Show GATATTATCTATATTATAGATATAGATATCTATATCTATAATATAGATAA TATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAG ATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAAT ATAGATAATATTATCTATATCTATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG04184.hp2 HG01516.hp1 HG04184.hp2	a0015 a0016 a0015 a0016	a0015c0124 a0016c0125 a0015c0124 a0016c0125	a0015c0124t0001 a0016c0125t0001 a0015c0124t0001 a0016c0125t0001	a0015c0124t0001g0029 a0016c0125t0001g0030 a0015c0124t0001g0029 a0016c0125t0001g0030	2	414	0.0048	174	c.480 others(189): Show c.480+612_480+613insTATAGATATAGATAATATTATCTATATTAT AGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATA TTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATC TATATTATAGATATAGATATCTATATCTATAATATAGATAATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF17_chr1_20659014_20723007	20712841	G G	GATATTAT others(167): Show GATATTATCTATATTATAGATATAGATATTTATATCTATAATATAGATAA TATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAG ATAATGTCTCAAAATATATATATCTATATTATATATAGTATCTATATATA GATTAATATATATATAATATAGATA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0048 a0003c0048	a0003c0048t0001 a0003c0048t0001	a0003c0048t0001g0117 a0003c0048t0001g0117	1	414	0.0024	174	c.480 others(189): Show c.480+612_480+613insTATCTATATTATATATATATTAATCTATAT ATAGATACTATATATAATATAGATATATATATTTTGAGACATTATCTATA TTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATC TATATTATAGATATAAATATCTATATCTATAATATAGATAATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
LCK_chr1_32246265_32291165	32249337	T T	TGATTTCA others(167): Show TGATTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACA GGTGGCCACCACCTCGCCTAGCTAATTTCCTTTCTTTTCTTTTCTTTTTT TTGAGATGGAATTTCACTCTTTCGCCCAGGCTGGAGTAGTGGCGCGATCT TGGCTCACTGCAACCTCCACCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	274	0.0037	174	c.-20 others(185): Show c.-2040_-2039insGATTTCAAGCGATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGATTACAGGTGGCCACCACCTCGCCTAGCTAATTTCCTTTCT TTTCTTTTCTTTTTTTTGAGATGGAATTTCACTCTTTCGCCCAGGCTGGA GTAGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTTCC	LCK	ENSG00000182866.18	transcript	ENST00000336890.10	protein_coding		1927		chr1	TogoVar
LDB2_chr4_16496541_16903645	16739603	T T	TATATATA others(167): Show TATATATATATATATATATATATATATATGTATATATATATGTATATATA TGTGTATATATATATGTGTATATACATATATGTATATATATATGTATATA TACATATATGTATATATACATATATGTATATATACATATATATATACATA TATGTATATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	162	0.0062	174	c.235 others(193): Show c.235+19554_235+19555insGTATATATATGTATATATATACATAT ATGTATATATATATGTATATATACATATATGTATATATACATATATGTAT ATATACATATATATATACATATATGTATATACACATATATATATACACAT ATATATACATATATATATACATATATATATATATATATATATATATAT	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7			chr4	TogoVar
LHPP_chr10_124456823_124619141	124610929	A A	AGGGTGAG others(167): Show AGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGT GTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGC GGGTGAGGGTGCTGATGGAGTGGGTGAGGGTGAGGGTGTTGACGGAGCGG GTGAGGGTGAGGGTGTTGACGGAGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	260	0.0039	174	c.717 others(191): Show c.717-2318_717-2317insAGGGTGCTGATGGAGCGGGTGAGGGTGA GGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGG GTGCGGGTGAGGGTGCTGATGGAGTGGGTGAGGGTGAGGGTGTTGACGGA GCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LIPG_chr18_49557057_49604185	49579001	G G	GGGGAGAG others(167): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0302 a0002c0002t0004g0302	1	384	0.0026	174	c.794 others(191): Show c.794-2350_794-2177dupAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMCD1_chr3_8496823_8579668	8502322	T T	TATATAAA others(167): Show TATATAAAATATATATAATATATATTATATAAAATATATAATATATATTA TATAAAATATATATAATATATATTATATATAAAATATATAATATATATTA TATAAAATATATAATATATATTATATAAAATATATAATATATATTATATA TAAAATATATAATATATTATATAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp2 HG03579.hp2 HG02572.hp1 HG03139.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243	3	314	0.0096	174	c.42+ others(187): Show c.42+347_42+348insAAATATATATAATATATATTATATAAAATATA TAATATATATTATATAAAATATATATAATATATATTATATATAAAATATA TAATATATATTATATAAAATATATAATATATATTATATAAAATATATAAT ATATATTATATATAAAATATATAATATATTATATAAAATATA	LMCD1	ENSG00000071282.12	transcript	ENST00000157600.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
LOC102723971_chr9_135609183_135624893	135620109	A A	ACTCCCCC others(167): Show ACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTC TACTCCCCCTTCTCCCCCGTCTCCCCCATCTCCCCCTACTCCCCCTTCTC CCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTCT CCCCCTACTCCCCCGTCTCCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA19004.hp1 NA18967.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	2	450	0.0044	174	c.11 others(185): Show c.1157_*1158insCTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTC TCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCGTCTCCCCCATCTCCCC CTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCC TCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGT	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding		217		chr9	TogoVar
LPA_chr6_160526482_160669275	160654050	A A	ATATAATA others(167): Show ATATAATATATATTATATATTATATTATATATAATATATATTATATATTA TATTATATATAATATATATTATATATTATATTATATATAATATATATTAT ATATTATATTATATATAATATATATTATATATTATATTATATATAATATA TATTATATATTATATTATATATAAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	148	0.0068	174	c.50- others(189): Show c.50-3554_50-3553insATTATATATAATATAATATATAATATATAT TATATATAATATAATATATAATATATATTATATATAATATAATATATAAT ATATATTATATATAATATAATATATAATATATATTATATATAATATAATA TATAATATATATTATATATAATATAATATATAATATATATTATA	LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	1/38			chr6	TogoVar
LRRC74A_chr14_76821408_76875304	76821689	A A	AGGTGAGG others(167): Show AGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0228 a0001c0007t0001g0228	1	408	0.0025	174	c.-50 others(185): Show c.-5009_-5008insGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCT	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding		4718		chr14	TogoVar
LRRC74A_chr14_76821408_76875304	76867188	A A	AGTGTGTG others(167): Show AGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGT GGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTGGTAGTGTGTGGGG GGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTG TGTGTGTGGTAGTGTGTGTGTGGGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	408	0.0025	174	c.130 others(191): Show c.1309-120_1309-119insTGGGTGTGTGTGTGTTGGGGGGGTGGGG TGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTG TGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGT GTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRRTM4_chr2_76742685_77527376	76796817	A A	AGAGAAGA others(167): Show AGAGAAGAAGACTTCAGACAATGAAATTACTCTGAGCTACGGGAGGACAT TGAAACCAAAGTCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATTACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGGTGATGGAG CTGAAAACCAAGGCTCGAGAACTAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	128	0.0078	174	c.155 others(195): Show c.1552-47902_1552-47901insGTAGTTCTCGAGCCTTGGTTTTCA GCTCCATCACCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTAATA CATTCTTCTAAATTTTTTTCAAAGTTTTCAACTTCTTTGACTTTGGTTTC AATGTCCTCCCGTAGCTCAGAGTAATTTCATTGTCTGAAGTCTTCTTCTC	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
LY75_chr2_159798355_159909756	159873772	C C	CATATAGT others(167): Show CATATAGTAAAAATACATATAAACGTATATATTTTGTAAAAATACATATA AACGTATATATTTTGTAAAAATACATATAAACGTATATATTTTGTAAAAA TACATATAAACGTATATATTTTGTAAAAATACATATAAACGTATATATTT TGTAAAAATACATATAAACGTATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02257.hp1 others(3): Show HG01168.hp1 HG01169.hp2 HG02257.hp1 HG02809.hp2 HG02895.hp1 HG03225.hp1	a0004 a0009 a0004 a0009	a0004c0005 a0009c0012 a0004c0005 a0009c0012	a0004c0005t0001 a0009c0012t0001 a0004c0005t0001 a0009c0012t0001	a0004c0005t0001g0226 a0004c0005t0001g0229 a0009c0012t0001g0227 others(3): Show a0004c0005t0001g0226 a0004c0005t0001g0229 a0009c0012t0001g0227 a0009c0012t0001g0228 a0009c0012t0001g0230 a0009c0012t0001g0231	6	330	0.0182	174	c.197 others(193): Show c.1975-1180_1975-1179insATATACGTTTATATGTATTTTTACAA AATATATACGTTTATATGTATTTTTACAAAATATATACGTTTATATGTAT TTTTACAAAATATATACGTTTATATGTATTTTTACAAAATATATACGTTT ATATGTATTTTTACAAAATATATACGTTTATATGTATTTTTACTATAT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
LYG2_chr2_99237246_99260666	99254686	T T	TAGAAATG others(167): Show TAGAAATGGGAGGCAGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACACAG CGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0299 a0004c0006t0001g0299	1	426	0.0024	174	c.-26 others(189): Show c.-26+333_-26+334insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTG TTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCA CCTCCCGGGTTCACGCCATTCTCCTGCCTCTGCCTCCCATTTCT	LYG2	ENSG00000185674.10	transcript	ENST00000333017.7	protein_coding	2/6			chr2	TogoVar
M1AP_chr2_74552883_74653330	74561067	G G	GAGGAGGA others(167): Show GAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGGAGGA GGAGAAGGAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGG AGAAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGGAG GAGGAGGAGAAGGAGGAGGAGGAGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0242 a0004c0004t0005g0242	1	248	0.0040	174	c.128 others(191): Show c.1282-777_1282-776insTCTCCTCCTCCTCCTTCTCCTCCTCCTC CTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTCCTTCTCCTCC TCCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCT	M1AP	ENSG00000159374.18	transcript	ENST00000421985.2	protein_coding	8/10			chr2	TogoVar
MAEA_chr4_1284891_1345137	1333801	A A	ATGTGCCC others(167): Show ATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCTCACCCCTGCAC CCACCCCATGCCCACCGTGTGCTCACCCCCCTGCCCACCCCCATGCCCGT GCTCACCTCTGCACCCACCCCATGCCCACCCCCATGCCCACCATGTGCCC ACCCCTGCACCCACCCCCATGCCCG	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18981.hp2 NA19010.hp1 HG00423.hp2 NA18981.hp2 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0022 a0001c0002t0001g0169 a0001c0002t0001g0170	3	388	0.0077	174	c.765 others(189): Show c.765+960_765+961insCATGCCCGTGTGCTCACCCCTGCACCCACC CCATGCCCACCGTGTGCTCACCCCCCTGCCCACCCCCATGCCCGTGCTCA CCTCTGCACCCACCCCATGCCCACCCCCATGCCCACCATGTGCCCACCCC TGCACCCACCCCCATGCCCGTGTGCCCACCCCTGCACCCACCCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1333801	A A	ATGTGCCC others(167): Show ATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCTCACCCCTGCAC CCATCCCATGCCCACCGTGTGCTCACCCCCCTGCCCACCCCCATGCCCGT GCTCACCTCTGCACCCACCCCATGCCCACCCCCATGCCCACCATGTGCCC ACCCCTGCACCCACCCCCATGCCCG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	388	0.0026	174	c.765 others(189): Show c.765+960_765+961insCATGCCCGTGTGCTCACCCCTGCACCCATC CCATGCCCACCGTGTGCTCACCCCCCTGCCCACCCCCATGCCCGTGCTCA CCTCTGCACCCACCCCATGCCCACCCCCATGCCCACCATGTGCCCACCCC TGCACCCACCCCCATGCCCGTGTGCCCACCCCTGCACCCACCCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1333909	C C	CCCCATGC others(167): Show CCCCATGCCCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTG CTCACCCCTGCACCCATCCCATGCCTACCGTGCTCACCCCCATGCCCACC CCATGCCCACCATGTGCTCACCCCTGCACCCACCCCCATGCCCGTGTGCT CACCCCTGCACCCATCCCATGCCTA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18994.hp2 NA19086.hp2 NA18969.hp1 NA18994.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0079	3	388	0.0077	174	c.765 others(191): Show c.765+1045_765+1046insCCATGCCCACCATGTGCCCACCCCTGCA CCCACCCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTACCG TGCTCACCCCCATGCCCACCCCATGCCCACCATGTGCTCACCCCTGCACC CACCCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTAC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579325	C C	CCACCATC others(167): Show CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCATCACCATCACCATCACCACCATCACCACCACCAT CACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCATCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	362	0.0028	174	c.391 others(189): Show c.391+832_391+833insTCACCACCACCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCATCACCATCACCATCACCACC ATCACCACCACCATCACCATCACCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCATCACCACCACCACCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(167): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGG AGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAG GGGGGAGAGGGGGGAGGGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	163	0.0061	174	c.525 others(191): Show c.525+8627_525+8628insCCCTCCCCCCTCCCCCCTCTCCCCCCTC CCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCC CCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCT CCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19478022	G G	GGGGAGAG others(167): Show GGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGG AGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGA GGGGGGAGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGG GAGAGGGGGGAGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0120 a0010c0012t0001g0120	1	163	0.0061	174	c.525 others(191): Show c.525+8459_525+8460insTCCCCCCTCCCCCCTCCCCCCTCTCCCC CCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCT CCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCC CCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MARCHF1_chr4_163519718_164389019	163894956	T T	TATATATA others(167): Show TATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATA TATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATG CATGTGATGCATATATATATGCATGTGATGCATATATATATATGCATGTG ATGCATATATATATGCATGTGATGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	102	0.0098	174	c.-38 others(193): Show c.-38-40788_-38-40787insGCATCACATGCATATATATATGCATC ACATGCATATATATATATGCATCACATGCATATATATATGCATCACATGC ATATATATATGCATCACATGCATATATATATATGCATCACATGCATATAT ATATGCATCACATGCATATATATATATGCATCACATGCATATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(167): Show TATTCATATATATATTCATATATATTCATATATATTCATATATATTCATA TATATATTCATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATTCATATATATATTCATA TATATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02056.hp1 NA18960.hp1 others(2): Show HG00558.hp2 HG02056.hp1 NA18960.hp1 NA19079.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 a0001c0001t0031	a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0008g0036 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0008g0036 a0001c0001t0016g0044 a0001c0001t0031g0076	5	191	0.0262	174	c.343 others(191): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATGAATATATATGAATATATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT1_chr6_20094684_20217469	20111847	C C	CGTATATA others(167): Show CGTATATATATACGTATATATACGTATATATATACGTATATATACGTATA TATATACGTATATATACGTATATATACGTATATATACGTATATATACGTA TATATACGTATATATATACGTATATATACGTATATATATACGTATATATA CGTATATATATACGTATATATACAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0282 a0001c0001t0051g0282	1	336	0.0030	174	c.120 others(193): Show c.1209+1028_1209+1029insATGTATATATACGTATATATATACGT ATATATACGTATATATATACGTATATATACGTATATATATACGTATATAT ACGTATATATACGTATATATACGTATATATACGTATATATACGTATATAT ATACGTATATATACGTATATATATACGTATATATACGTATATATATAC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	11/12			chr6	TogoVar
MCC_chr5_113017106_113493453	113333838	T T	TATATGTA others(167): Show TATATGTATATATGTACATATATGTATATATGTATATATGTATATATGTA CATATATGTATATATGTATATATGTACATATATACATATATGTACATATA TGTATATATGTACACATGTACATATATGTACATATGTACACATGTACATA TATGTACACATGTACATATATGTAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0007 a0001c0018t0007	a0001c0018t0007g0085 a0001c0018t0007g0085	1	160	0.0063	174	c.627 others(191): Show c.627+6680_627+6681insGTACATATATGTACATGTGTACATATAT GTACATGTGTACATATGTACATATATGTACATGTGTACATATATACATAT ATGTACATATATGTATATATGTACATATATACATATATACATATATGTAC ATATATACATATATACATATATACATATATGTACATATATACATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(167): Show ACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCACAGCCACCAGA CAACGCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0084 a0084	a0084c0064 a0084c0064	a0084c0064t0035 a0084c0064t0035	a0084c0064t0035g0001 a0084c0064t0035g0001	1	292	0.0034	174	c.377 others(191): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MGAT4C_chr12_85950667_86261391	86110254	A A	AATATATA others(167): Show AATATATATATAGACTATATATATATAGTCTATATATATAGTCTATATAT ATATAGTCTATATATATATAGTCTATATATATAGTCTATATATATATAGT CTATATATATATAGTCTATATATATATAGTCTATATATATAGTCTATATA TATATAGTCTATATATATATAGACT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00735.hp1 others(7): Show HG00099.hp2 HG00642.hp1 HG00735.hp1 HG00741.hp2 HG01099.hp1 HG01256.hp1 HG01433.hp1 HG03239.hp1 HG03831.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 others(5): Show a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0124 a0001c0001t0131 a0001c0001t0134 a0001c0001t0138 a0001c0001t0139	a0001c0001t0019g0024 a0001c0001t0019g0027 a0001c0001t0020g0028 others(7): Show a0001c0001t0019g0024 a0001c0001t0019g0027 a0001c0001t0020g0028 a0001c0001t0020g0029 a0001c0001t0025g0035 a0001c0001t0124g0030 a0001c0001t0131g0031 a0001c0001t0134g0032 a0001c0001t0138g0033 a0001c0001t0139g0063	10	186	0.0538	174	c.-56 others(193): Show c.-56-60532_-56-60531insAGTCTATATATATATAGACTATATAT ATATAGACTATATATATAGACTATATATATATAGACTATATATATATAGA CTATATATATATAGACTATATATATAGACTATATATATATAGACTATATA TATATAGACTATATATATAGACTATATATATATAGTCTATATATATAT	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MGAT4C_chr12_85950667_86261391	86110254	A A	AATATATA others(167): Show AATATATATATAGACTATATATATATAGTCTATATATATATAGTCTATAT ATATAGTCTATATATATATAGTCTATATATATAGTCTATATATATATAGT CTATATATATATAGTCTATATATATATAGTCTATATATATATAGTCTATA TATATATAGTCTATATATATAGACT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0107 a0001c0001t0065g0107	1	186	0.0054	174	c.-56 others(193): Show c.-56-60532_-56-60531insAGTCTATATATATAGACTATATATAT ATAGACTATATATATATAGACTATATATATATAGACTATATATATATAGA CTATATATATATAGACTATATATATAGACTATATATATATAGACTATATA TATAGACTATATATATATAGACTATATATATATAGTCTATATATATAT	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MICB_chr6_31493145_31516124	31498593	T T	TAGTAGCT others(167): Show TAGTAGCTGGGACTACAGACGCCCGCCACCACGCCCGGCTAATTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01074.hp2 HG01099.hp1 others(19): Show HG00423.hp2 HG01074.hp2 HG01099.hp1 HG01243.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02886.hp2 HG02976.hp1 HG03139.hp1 HG03225.hp2 HG03516.hp2 HG06807.hp2 NA18948.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0041 others(8): Show a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0012g0007	22	459	0.0479	174	c.70+ others(187): Show c.70+347_70+348insACGCCCGCCACCACGCCCGGCTAATTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG	MICB	ENSG00000204516.10	transcript	ENST00000252229.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
MIOX_chr22_50481859_50495648	50488546	C C	CCCCCCCC others(167): Show CCCCCCCCACGGCTGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTGGG ATACTACCTGGGGGACAGGCCAGTGCACCCCCCACGGCCCCCCCCACGGC TGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTGGGATACTACCTGGGG GACAGGCCAGTGCACCCCCCCACGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03471.hp2 HG01074.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0087 a0001c0001t0011g0059 a0001c0001t0002g0087 a0001c0001t0011g0059	2	436	0.0046	174	c.408 others(189): Show c.408+292_408+293insCCCCCCACGGCTGCCTGTCCCTCTGGTGGC CTCGGTGCTTGGCCTGGGATACTACCTGGGGGACAGGCCAGTGCACCCCC CCACGGCCCCCCCACGGCTGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGC CTGGGATACTACCTGGGGGACAGGCCAGTGCACCCCCCACGGCC	MIOX	ENSG00000100253.13	transcript	ENST00000216075.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
MIOX_chr22_50481859_50495648	50488546	C C	CCCCCCCC others(167): Show CCCCCCCCACGGCTGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTGGG ATACTACCTGGGGGACAGGCCAGTGCACCCCCCCACGGCCCCCCCACGGC TGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTGGGATACTACCTGGGG GACAGGCCAGTGCACCCCCCCACGG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19005.hp1 NA18977.hp2 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	2	436	0.0046	174	c.408 others(189): Show c.408+286_408+287insCACGGCCCCCCCACGGCTGCCTGTCCCTCT GGTGGCCTCGGTGCTTGGCCTGGGATACTACCTGGGGGACAGGCCAGTGC ACCCCCCCACGGCCCCCCCACGGCTGCCTGTCCCTCTGGTGGCCTCGGTG CTTGGCCTGGGATACTACCTGGGGGACAGGCCAGTGCACCCCCC	MIOX	ENSG00000100253.13	transcript	ENST00000216075.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
MIOX_chr22_50481859_50495648	50488549	C C	CCCCCACG others(167): Show CCCCCACGGCTGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTGGGATA CTACCTGGGGGACAGGCCAGTGCACCCCCCACGGCCCCCCCCCACGGCTG CCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTGGGATACTACCTGGGGGA CAGGCCAGTGCACCCCCCACGGCCT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0069 a0001c0003t0022g0069	1	436	0.0023	174	c.408 others(189): Show c.408+292_408+293insCCCCCCCACGGCTGCCTGTCCCTCTGGTGG CCTCGGTGCTTGGCCTGGGATACTACCTGGGGGACAGGCCAGTGCACCCC CCACGGCCTCCCCACGGCTGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGC CTGGGATACTACCTGGGGGACAGGCCAGTGCACCCCCCACGGCC	MIOX	ENSG00000100253.13	transcript	ENST00000216075.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496690	G G	GGTGGTGG others(167): Show GGTGGTGGAGGTGATGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGG AGATGGTGGTGGTGGAGATGGTGATGGTGGTGGAGATGGTGGTGGTGGAG GTGGTGGTGGTGGAGGTGATGGTGGAGGTAGTGGTGGTGGAGGTGGTGGT GGTGGAGGTAGTGGTGGTGGAGGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01257.hp1 HG01496.hp1 HG00099.hp1 HG01257.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0131 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0002g0131 a0001c0001t0003g0149 a0001c0001t0003g0150	3	250	0.0120	174	c.633 others(191): Show c.633-1538_633-1537insAGGTGATGGTGGAGGTAGTGGTGGTGGA GGTGGTGGTGGTGGAGATGGTGGTGGTGGAGATGGTGATGGTGGTGGAGA TGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGATGGTGGAGGTAGTGGTG GTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGGTAGTGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499546	G G	GGTGGTGA others(167): Show GGTGGTGATGGAGGTGGTGATGGGGGGTGGTGGTGGTGATGGTGATGGAG GTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGATGGAGGTGGTGATGGG GGTGGTGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGG TGGTGGTGGTGATGGAGGTGGTGGT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	250	0.0040	174	c.748 others(191): Show c.748+1197_748+1198insTGGTGATGGAGGTGGTGATGGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTG GTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGC GGTGGTGATGGTGGAGGTGGTGGTGGTGGTGATGGAGGTGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499827	A A	ATGGTGAT others(167): Show ATGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGAT GGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGGGGTGGTG GTGGTGATGGTGGAGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01981.hp2 NA18968.hp1 others(3): Show HG00639.hp2 HG01981.hp2 NA18968.hp1 NA18981.hp2 NA18999.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 a0001c0001t0001 a0001c0002t0001 a0001c0002t0013	a0001c0001t0001g0044 a0001c0001t0001g0151 a0001c0002t0001g0073 others(3): Show a0001c0001t0001g0044 a0001c0001t0001g0151 a0001c0002t0001g0073 a0001c0002t0001g0076 a0001c0002t0001g0087 a0001c0002t0013g0075	6	250	0.0240	174	c.748 others(191): Show c.748+1492_748+1493insCGGTGGTGATGGTGGAGGTGGTGGTGGT GGTGATGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGG TGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGGG GTGGTGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGATGGAGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPZL1_chr1_167716982_167796919	167739279	A A	ATATATAT others(167): Show ATATATATACATATATATATATATATACATATATATATATACATATATAT ATATACATATATATATATATATACATATATATATATACATATATATATAT ACATATATATATATATATACATATATATATATACATATATATATATACAT ATATATATATACATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0037 a0001c0001t0006g0037	1	378	0.0027	174	c.91+ others(191): Show c.91+17039_91+17040insTATATACATATATATATATATATACATA TATATATATACATATATATATATACATATATATATATATATACATATATA TATATACATATATATATATACATATATATATATATATACATATATATATA TACATATATATATATACATATATATATATACATATATATATGTGTA	MPZL1	ENSG00000197965.12	transcript	ENST00000359523.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
MROH2A_chr2_233773330_233838418	233789295	A A	AGTCATAT others(167): Show AGTCATATTGACAGGGCCAGTGGGATGAGAAGGGCAGGAGAAGCGAAGCA GGAGGATTTAGAAATGGAGGAATGGGGATCTAAGATTTGTGTGTTTGGAG GCTGGTGGTTTGGGTGTAGGGAAGGAGGACAGTGGGAGAGAGAGGTGGAC TTGTGCCGGGGGCAGGGTGAGGTCC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0001 a0007c0025t0001	a0007c0025t0001g0321 a0007c0025t0001g0321	1	378	0.0027	174	c.277 others(187): Show c.277-47_277-46insCGGGGGCAGGGTGAGGTCCGTCATATTGACAG GGCCAGTGGGATGAGAAGGGCAGGAGAAGCGAAGCAGGAGGATTTAGAAA TGGAGGAATGGGGATCTAAGATTTGTGTGTTTGGAGGCTGGTGGTTTGGG TGTAGGGAAGGAGGACAGTGGGAGAGAGAGGTGGACTTGTGC	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH4_chr1_75791882_75918242	75906449	A A	ATACAATA others(167): Show ATACAATATTGTATATATTATATATAATATATAATATTGTATATATTATA TATAATATATACAATATTGTATATATTATATATAATATATACAATATTGT ATATATTATATATAATGTATACAATATTATATATTATATATAATGTATAC AATATTATATATATTATATATAATG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp2 HG02723.hp1 others(3): Show HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02896.hp2 HG02976.hp1 HG03139.hp1	a0003 a0009 a0003 a0009	a0003c0005 a0009c0011 a0003c0005 a0009c0011	a0003c0005t0001 a0009c0011t0001 a0003c0005t0001 a0009c0011t0001	a0003c0005t0001g0169 a0003c0005t0001g0170 a0003c0005t0001g0171 others(3): Show a0003c0005t0001g0169 a0003c0005t0001g0170 a0003c0005t0001g0171 a0003c0005t0001g0173 a0003c0005t0001g0174 a0009c0011t0001g0172	6	332	0.0181	174	c.262 others(193): Show c.2620-6245_2620-6244insCAATATTGTATATATTATATATAATA TATAATATTGTATATATTATATATAATATATACAATATTGTATATATTAT ATATAATATATACAATATTGTATATATTATATATAATGTATACAATATTA TATATTATATATAATGTATACAATATTATATATATTATATATAATGTA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSLN_chr16_755734_773862	767711	G G	GCGTGGAG others(167): Show GCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGG GGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGC GTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGC CGTGTGGGGGGGCGTGGAGGGGGGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0009 a0005c0005t0001g0009	2	388	0.0052	174	c.159 others(191): Show c.1596+241_1596+242insCGTGGAGGAGGGGCGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGA GGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGA GGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17			chr16	TogoVar
MSLN_chr16_755734_773862	769170	G G	GCCCCGGC others(167): Show GCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCAGCCCCAGC CCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAGCCCCAGCCCCAGCCC CGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCCAGCCCCGGCCCCG GCCCCACCCCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01256.hp1 HG01258.hp2 HG01069.hp1 HG01256.hp1 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0326 a0002c0002t0002g0018 a0002c0002t0002g0326	3	388	0.0077	174	c.43 others(183): Show c.437_*438insCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGG CCCCAGCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAGCC CCAGCCCCAGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCC AGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		309		chr16	TogoVar
MSLN_chr16_755734_773862	769170	G G	GCCCCGGC others(167): Show GCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCAGCCCCGGC CCCAGCCCCAGCCCCACCCCCGGCCCCGGCCCCAGCCCCAGCCCCAGCCC CGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCCAGCCCCGGCCCCG GCCCCACCCCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0322 a0002c0002t0002g0322	1	388	0.0026	174	c.43 others(183): Show c.437_*438insCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGG CCCCAGCCCCGGCCCCAGCCCCAGCCCCACCCCCGGCCCCGGCCCCAGCC CCAGCCCCAGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCC AGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		309		chr16	TogoVar
MSLN_chr16_755734_773862	769176	G G	GCCCCGGC others(167): Show GCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCGGC CCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCC CGGCCCCACCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCAGCCCCG GCCCCACCCCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0227 a0003c0004t0003g0227	1	388	0.0026	174	c.44 others(183): Show c.443_*444insCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGG CCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCC CCACCCCCGGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCACCCCC GGCCCCAGCCCCGGCCCCACCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		315		chr16	TogoVar
MSLN_chr16_755734_773862	769176	G G	GCCCCGGC others(167): Show GCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCAGCCCCAGCCCCAGC CCCAGCCCCACCCCCGGCCCCAGCCCCAGCCCCAGCCCCGGCCCCGGCCC CACCCCCACCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCG GCCCCACCCCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0049 a0002c0002t0002g0049	1	388	0.0026	174	c.44 others(183): Show c.443_*444insCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCAG CCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAGCCCCAGCC CCGGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCCGGCCCC GGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		315		chr16	TogoVar
MSLN_chr16_755734_773862	769199	A A	ACCCCCGG others(167): Show ACCCCCGGCCCCGGCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGG CCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCGGCCCCGGCC CCGGCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCGGCCCC GGCCCCGGCCCCACCCCCACCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0233 a0002c0003t0004g0233	1	388	0.0026	174	c.46 others(183): Show c.466_*467insCCCCCGGCCCCGGCCCCGGCCCCGGCCCCAGCCCCG GCCCCACCCCCGGCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGC CCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCC CGGCCCCGGCCCCGGCCCCGGCCCCACCCCCACCCCCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		338		chr16	TogoVar
MSLN_chr16_755734_773862	769218	G G	GCCCCGGC others(167): Show GCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGC CCCACCCCCGGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCACCCC CGGCCCCAGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCG GCCCCGGCCCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0291 a0003c0004t0003g0291	1	388	0.0026	174	c.48 others(183): Show c.485_*486insCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCAC CCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCACCCCCGGCC CCGGCCCCACCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCGGCCCC ACCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		357		chr16	TogoVar
MSLN_chr16_755734_773862	769224	G G	GCCCCAGC others(167): Show GCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAGCCCCAGCCCCAGC CCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCC CGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCA GCCCCAGCCCCGGCCCCACCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19066.hp1 NA19000.hp2 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0190 a0002c0002t0002g0197 a0002c0002t0002g0190 a0002c0002t0002g0197	2	388	0.0052	174	c.49 others(183): Show c.491_*492insCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAG CCCCAGCCCCAGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCC CCGGCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCC GGCCCCGGCCCCAGCCCCAGCCCCGGCCCCACCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		363		chr16	TogoVar
MSRB3_chr12_65273683_65471907	65396700	A A	AAGAAAGA others(167): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0023 a0001c0001t0004g0023	1	312	0.0032	174	c.292 others(193): Show c.292+27675_292+27676insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MTERF3_chr8_96234402_96266610	96250642	A A	AAAGAAGA others(167): Show AAAGAAGAAAGAAGAAGAAAGAAGAAGAAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	294	0.0034	174	c.677 others(189): Show c.677+263_677+264insCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTTCTTCTTCTTTCTTCTTCTTTCTTCTT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar

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