Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
DPEP1_chr16_89608642_89643433	89619681	A A	AGCTCCAT others(199): Show AGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCCCCCTGCACTCCCTTCACCCCCTCCCTGCAGCCTGCTGTGCCCCC TGCTCCCCTCCCTGCAGCGCCCTGGTCCCCCTGCTCCCCCCGCTCCCCTC CCTGCAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	241	0.0041	206	c.-10 others(225): Show c.-107+5962_-107+5963insGCTCCATGCCCCCCCTGCTCCCCTCC CTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCAGCCCC CTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCACTCCCTTCACCCCC TCCCTGCAGCCTGCTGTGCCCCCTGCTCCCCTCCCTGCAGCGCCCTGGTC CCCCTGCTCCCCCCGCTCCCCTCCCTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPH7_chr9_137549444_137583925	137567168	T T	TCTGTCTG others(199): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCGTGAG GGAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTC TGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG02630.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0029 a0001c0001t0003g0030	2	334	0.0060	206	c.641 others(223): Show c.641-2015_641-2014insTCACCCAGGGGAGCTTCCTCACAGACAG AGTCACCCCGGGGAGCTTCCTCACGGACAGAGTCACCCCGGGGAGCTTCC TCACGGACAGAGTCACCCAGGGGAGCTCCCTCACGGACAGAGTCACCCCG GGGAGCTTCCTCACGGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAG TCACCCAGGGGAGCTTCCTCACAGACAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567636	A A	ACTCTGTC others(199): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCTG GGTGACT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	310	0.0032	206	c.641 others(223): Show c.641-2483_641-2482insAGTCACCCAGGGGAGCTTCCTCACGGAC AGAGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCC TCACAGACAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGG GAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGTC ACCCAGGGGAGCTTCCTCACAGACAGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPP7_chr9_137105546_137119733	137114213	A A	ACCCCCGC others(199): Show ACCCCCGCCCGCGACCCCGCCCGGCACCCACGTGCCCCGCGACCCCCGCC CGCGACCCCGCCCGGCACCCACGTGCCCCGCGACCCCCGCCCGCGACCCC GCCCGGCACCCGCGTGCCCCGCGACCCCCGCCCGCGACCCCGCCCGGCAC CCACGTGCCCCGCGACCCCCGCCCGCGACCCCGCCCGGCACCCACGTGCC CCGCGAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG01891.hp1 HG02280.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0009 a0003c0005t0001g0009	2	119	0.0168	206	c.321 others(219): Show c.321+29_321+30insGTCGCGGGGCACGTGGGTGCCGGGCGGGGTCG CGGGCGGGGGTCGCGGGGCACGTGGGTGCCGGGCGGGGTCGCGGGCGGGG GTCGCGGGGCACGCGGGTGCCGGGCGGGGTCGCGGGCGGGGGTCGCGGGG CACGTGGGTGCCGGGCGGGGTCGCGGGCGGGGGTCGCGGGGCACGTGGGT GCCGGGCGGGGTCGCGGGCGGGGG	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPP7_chr9_137105546_137119733	137114213	A A	ACCCCCGC others(199): Show ACCCCCGCCCGCGACCCCGCCCGGCACCCGCGTGCCCCGCGACCCCCGCC CGCGACCCCGCCCGGCACCCGCGTGCCCCGCGACCCCCGCCCGCGACCCC GCCCGGCACCCGCGTGCCCCGCGACCCCCGCCCGCGACCCCGCCCGGCAC CCGCGTGCCCCGCGACCCCCGCCCGCGACCCCGCCCGGCACCCACGTGCC CCGCGAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0030 a0001c0006t0001g0030	1	118	0.0085	206	c.321 others(219): Show c.321+29_321+30insGTCGCGGGGCACGTGGGTGCCGGGCGGGGTCG CGGGCGGGGGTCGCGGGGCACGCGGGTGCCGGGCGGGGTCGCGGGCGGGG GTCGCGGGGCACGCGGGTGCCGGGCGGGGTCGCGGGCGGGGGTCGCGGGG CACGCGGGTGCCGGGCGGGGTCGCGGGCGGGGGTCGCGGGGCACGCGGGT GCCGGGCGGGGTCGCGGGCGGGGG	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DVL1_chr1_1330278_1354418	1351134	C C	CGGGGGGG others(199): Show CGGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGGA GTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGGAGTGAGGAGG GGGCCTGGACGGGGCAGGAGCGACGGGGGGGAGTGAGGAGGGGGCCTGGA CGGGGCAGGAGCGACGGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGG AGCGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0009 a0001c0003t0003g0009	1	341	0.0029	206	c.-20 others(217): Show c.-2070_-2069insCGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTCAC TCCCCCCCGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCCG TCGCTCCTGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCCGTCGCTCCTG CCCCGTCCAGGCCCCCTCCTCACTCCCCCCCGTCGCTCCTGCCCCGTCCA GGCCCCCTCCTCACTCCCCCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1717		chr1	TogoVar
EPHX2_chr8_27486143_27550564	27501389	T T	TCTCCTTC others(199): Show TCTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTC TTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCT TCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTT CCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTC CTTCTTC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	350	0.0029	206	c.186 others(221): Show c.186+381_186+382insCCTTCTTCCTTCTTCCTTCTTCCTTCTTCC TTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCT TCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTT CTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTC TTCCTTCTTCCTTCTTCCTTCTTCCT	EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAF2_chr5_176443385_176515074	176451811	C C	CACATATA others(199): Show CACATATATATATACATATATATATACACATATATATATACATATATATA TACACATATATATATACATATATATATACACATATATATATACATATATA TATACACATATATATATACATATATATATACACATATATATATACATATA TATATACACATATATATATACATATATATATACACATATATATATACATA TATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA19070.hp2 HG01257.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0229 a0001c0001t0001g0232	2	346	0.0058	206	c.63+ others(221): Show c.63+3344_63+3345insTATATATATACATATATATATACACATATA TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACACATATATATATACATATATATATACA CATATATATATACATATATATATACA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER1L5_chr2_96637764_96709883	96659346	C C	CTTTCTTT others(199): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0129 a0007c0008t0001g0129	1	192	0.0052	206	c.748 others(221): Show c.748-993_748-992insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FGD6_chr12_95071749_95222467	95195689	T T	TCACGCCT others(199): Show TCACGCCTGTAAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACC TGAGGTCGGGAGTTCGAGACCAGACCTGGCCATGTTGGCCATGTTGGCCG TGTTGGCCATGTTGGCCATGTTGGCCAGGTCTGGTCTCGAACTCCCGACC TCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00609.hp1 others(46): Show HG00323.hp2 HG00558.hp1 HG00609.hp1 HG00673.hp1 HG00735.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02132.hp1 HG02165.hp1 HG02735.hp1 NA18747.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18961.hp2 NA18968.hp1 NA18971.hp1 NA18980.hp2 NA18982.hp2 NA18985.hp1 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19088.hp2 NA19090.hp1 NA20752.hp2 NA21309.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0008 a0014	a0001c0001 a0003c0004 a0004c0008 others(2): Show a0001c0001 a0003c0004 a0004c0008 a0008c0017 a0014c0021	a0001c0001t0010 a0001c0001t0033 a0001c0001t0037 others(9): Show a0001c0001t0010 a0001c0001t0033 a0001c0001t0037 a0001c0001t0076 a0003c0004t0004 a0003c0004t0014 a0003c0004t0034 a0003c0004t0075 a0004c0008t0004 a0004c0008t0014 a0008c0017t0004 a0014c0021t0004	a0001c0001t0010g0324 a0001c0001t0010g0325 a0001c0001t0010g0327 others(46): Show a0001c0001t0010g0324 a0001c0001t0010g0325 a0001c0001t0010g0327 a0001c0001t0010g0328 a0001c0001t0010g0330 a0001c0001t0010g0331 a0001c0001t0010g0332 a0001c0001t0010g0333 a0001c0001t0010g0358 a0001c0001t0033g0317 a0001c0001t0033g0318 a0001c0001t0037g0323 a0001c0001t0076g0326 a0003c0004t0004g0335 a0003c0004t0004g0336 a0003c0004t0004g0337 a0003c0004t0004g0338 a0003c0004t0004g0339 a0003c0004t0004g0340 a0003c0004t0004g0341 a0003c0004t0004g0342 a0003c0004t0004g0344 a0003c0004t0004g0345 a0003c0004t0004g0346 a0003c0004t0004g0347 a0003c0004t0004g0348 a0003c0004t0004g0349 a0003c0004t0004g0350 a0003c0004t0004g0352 a0003c0004t0004g0355 a0003c0004t0004g0356 a0003c0004t0004g0367 a0003c0004t0004g0368 a0003c0004t0004g0369 a0003c0004t0004g0370 a0003c0004t0004g0371 a0003c0004t0014g0351 a0003c0004t0014g0372 a0003c0004t0034g0354 a0003c0004t0034g0357 a0003c0004t0075g0353 a0004c0008t0004g0360 a0004c0008t0004g0363 a0004c0008t0014g0359 a0004c0008t0014g0361 a0004c0008t0014g0362 a0008c0017t0004g0364 a0008c0017t0004g0365 a0014c0021t0004g0334	49	50	0.9800	206	c.244 others(227): Show c.2441+13153_2441+13154insGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGAGAC CAGACCTGGCCAACATGGCCAACATGGCCAACACGGCCAACATGGCCAAC ATGGCCAGGTCTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCGCCTC AGCCTCCCAAAGTGCTGGGATTTACAGGCGTG	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	2/20			chr12	TogoVar
FGFRL1_chr4_1006626_1031898	1026155	A A	ACACACAC others(199): Show ACACACACATGTGCACAGATATGCTGTCTGGACATGCACACACGTGCAGA TATGCTGTCCGGATACACACGCACGCACACATGCAGATATGCTGCCTGGG CACACACTTCCGGACACACATGCACACACAGGTGCAGATATGCTGCCTGG ACACACACACAGATAATGCTGCCTCAACACTCACACACGTGCAGATATTG CCTGGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0003 a0001c0002t0034g0003	1	412	0.0024	206	c.96 others(215): Show c.963_*964insACACAGATAATGCTGCCTCAACACTCACACACGTGC AGATATTGCCTGGACCACACACATGTGCACAGATATGCTGTCTGGACATG CACACACGTGCAGATATGCTGTCCGGATACACACGCACGCACACATGCAG ATATGCTGCCTGGGCACACACTTCCGGACACACATGCACACACAGGTGCA GATATGCTGCCTGGACACAC	FGFRL1	ENSG00000127418.15	transcript	ENST00000510644.6	protein_coding	7/7	964	INFO_REALIGN_3_PRIME	chr4	TogoVar
FLT3_chr13_27998274_28105576	27998863	T T	TATATTTA others(199): Show TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATGCATATAAATATATATATTTATATGCATATAAATATATATATT TATATACATATAAATATATATATTTATATATAAATATATATATTTATATA CATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	95	0.0105	206	c.51 others(217): Show c.5188_*5189insTTATATGTATATAAATATATATATTTATATATAA ATATATATATTTATATGTATATAAATATATATATTTATATGCATATAAAT ATATATATTTATATGCATATAAATATATATATTTATATGTATATAAATAT ATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATAT ATATTTATATGTATATAAATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4410		chr13	TogoVar
FOXP1_chr3_70949708_71588728	71396955	T T	TATATATA others(199): Show TATATATATACACACATATATATGTGTGTATATATATATATACACATATA TATATGTGTGTATATATATATACACATATATATGTGTATATATATATACA TATATATGTGTATATATACACACATATATATATGTGTATATATACACACA TATATATATGTGTATATATATATACACACATATATATATGTGTATATATA TATACAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0039 a0001c0001t0008g0039	1	76	0.0132	206	c.-16 others(227): Show c.-167-37712_-167-37711insGTGTATATATATATACACATATAT ATATGTGTGTATATATATATACACATATATATATGTGTGTATATATACAC ATATATATATGTGTGTATATATACACATATATATGTATATATATATACAC ATATATATGTGTATATATATATACACACATATATATATGTGTATATATAT ATATACACACATATATATGTGTGTATATATAT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GMEB2_chr20_63582605_63632101	63607849	C C	CACCTCCA others(199): Show CACCTCCATTTCCAGAAACATGCCCCTCTGACCCCACACATCCATTTCTA GAAACATGTCCCTCTGACTCACCTCCATTTCTAGAAACGTGCCACTCTGA CCCCACACATCCATTTCTAGAAACATGCCCCTCTGACCCACCTCCATTTC CAGAAACATGCCCCTCTGACCCCACACATCCATTTCTAGAAACATGTCCC TCTGACT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02055.hp1 HG02280.hp1 others(11): Show HG01496.hp2 HG02055.hp1 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG02886.hp2 HG03041.hp1 HG03130.hp2 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG03710.hp2 HG06807.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0018 a0001c0004t0019 a0001c0004t0004 a0001c0004t0018 a0001c0004t0019	a0001c0004t0004g0040 a0001c0004t0004g0041 a0001c0004t0004g0082 others(11): Show a0001c0004t0004g0040 a0001c0004t0004g0041 a0001c0004t0004g0082 a0001c0004t0004g0088 a0001c0004t0004g0089 a0001c0004t0004g0090 a0001c0004t0004g0091 a0001c0004t0004g0095 a0001c0004t0004g0096 a0001c0004t0004g0097 a0001c0004t0004g0100 a0001c0004t0004g0101 a0001c0004t0018g0094 a0001c0004t0019g0083	14	225	0.0622	206	c.132 others(223): Show c.132-3010_132-3009insAGTCAGAGGGACATGTTTCTAGAAATGG ATGTGTGGGGTCAGAGGGGCATGTTTCTGGAAATGGAGGTGGGTCAGAGG GGCATGTTTCTAGAAATGGATGTGTGGGGTCAGAGTGGCACGTTTCTAGA AATGGAGGTGAGTCAGAGGGACATGTTTCTAGAAATGGATGTGTGGGGTC AGAGGGGCATGTTTCTGGAAATGGAGGT	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GPC5_chr13_91393621_92872237	92347920	T T	TATTATAT others(199): Show TATTATATATAATATATATATTATATATATAATATATAATATATATAATA TATATAATATATATAATATATATATTATATATAATATATAATATATATAT TATATATAATATATAATATATATATTATATATATTATATATAATATATAT AATATATATATTATATATATATTATATATTATATATAATATATATAATAT ATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0026 a0002c0002t0003g0026	1	32	0.0313	206	c.156 others(229): Show c.1561+202933_1561+202934insTATATATAATATATATATTATA TATATAATATATAATATATATAATATATATAATATATATAATATATATAT TATATATAATATATAATATATATATTATATATAATATATAATATATATAT TATATATATTATATATAATATATATAATATATATATTATATATATATTAT ATATTATATATAATATATATAATATATATATAAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPR35_chr2_240620480_240638159	240625870	T T	TGGGGTGA others(199): Show TGGGGTGAGACTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGT TCTCAGAGCAGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTG TGATGGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGCGG GGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTC TCAGAGA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0002 a0014c0013t0002	a0014c0013t0002g0069 a0014c0013t0002g0069	1	371	0.0027	206	c.-5+ others(219): Show c.-5+310_-5+311insACTCTGATGGGGTCTCAGAGCGGGGTGAGGCT GTGATGGGTTCTCAGAGCAGGGTGAGGCTGTGATGGGGTCTCAGAGTGGG GTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTC TCAGAGCGGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTGTG ATGGGGGTCTCAGAGAGGGGTGAG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRM5_chr11_88499642_89070982	88687530	A A	ACACACAT others(199): Show ACACACATATATATTATATATATATTATATATATATATTATATATATATT ATATATATATTATATATATATATTATATATATATTATATATATATTATAT ATATATATTATATATATATTATATATATATATTATATATATATTATATAT ATATTATATATATATTATATATATATTATATATATAATATATATATAATA TATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	162	0.0062	206	c.912 others(225): Show c.912-34128_912-34127insATATATATATTATATATATATTATAT ATATAATATATATATAATATATATATAATATATATATAATATATATATAA TATATATATATAATATATATATAATATATATATATAATATATATATAATA TATATATAATATATATATATAATATATATATAATATATATATAATATATA TATATAATATATATATAATATATATGTGTG	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GRTP1_chr13_113319163_113369130	113347263	T T	TGAGCGGA others(199): Show TGAGCGGATCTGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACC TCTGTGGCCGAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACC CGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAG AGCAGACCCGGGAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTC TGAAGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp1 others(61): Show HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01106.hp2 HG01123.hp1 HG01243.hp1 HG01361.hp2 HG01952.hp2 HG02004.hp2 HG02015.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02257.hp2 HG02300.hp1 HG02602.hp1 HG02735.hp2 HG02922.hp1 HG03041.hp2 HG03130.hp1 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18967.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18992.hp2 NA18995.hp2 NA19009.hp1 NA19010.hp2 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20905.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0001 a0003c0004 a0004c0003 others(1): Show a0001c0001 a0003c0004 a0004c0003 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0003c0004t0001 a0004c0003t0001 a0004c0003t0002 a0008c0013t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0046 others(61): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0003g0136 a0001c0001t0003g0158 a0001c0001t0003g0162 a0001c0001t0003g0171 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0001t0008g0286 a0003c0004t0001g0063 a0003c0004t0001g0132 a0004c0003t0001g0005 a0004c0003t0002g0003 a0004c0003t0002g0004 a0008c0013t0001g0052	64	173	0.3699	206	c.466 others(223): Show c.466-2305_466-2304insGGCTTCAGAGGTCCTCCCGGATCTGTTC TTGGCCACAGAGGTCCTCCCGGGTCTGCTCTCTGCCACAGAGGTCCTCCC AGATCCGCTCAGCCACAGAGGTCCTCCCGGGTCTGCTCTCGGCTTCAGAG GTCCTCCCGGATCTGTTCTCGGCCACAGAGGTCCTCCCGGGTCTGTTCTC AGCCACAGAGGTCCTCCCAGATCCGCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347263	T T	TGAGCGGA others(199): Show TGAGCGGATCTGGGAGGACCTTTGTGGCTGAGAACAGACCCGGGAGGACC TCTGTGGCCGAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACC CGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAG AGCAGACCCGGGAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTC TGAAGCC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	110	0.0091	206	c.466 others(223): Show c.466-2305_466-2304insGGCTTCAGAGGTCCTCCCGGATCTGTTC TTGGCCACAGAGGTCCTCCCGGGTCTGCTCTCTGCCACAGAGGTCCTCCC AGATCCGCTCAGCCACAGAGGTCCTCCCGGGTCTGCTCTCGGCTTCAGAG GTCCTCCCGGATCTGTTCTCGGCCACAGAGGTCCTCCCGGGTCTGTTCTC AGCCACAAAGGTCCTCCCAGATCCGCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GYPE_chr4_143865864_143910559	143883550	T T	TTATAATT others(199): Show TTATAATTAATAATAACATGTAATTAATTATAAATTTATAATTAATAATA ACATGTAATTAATTATAAATTAATAATTAATAATAACATGTAATTAATTA TAAATTAATAATTAATAATAACATGTAATTAATTATAAATTAATAATTAA TAATAACATGTAATTAATTATAAATTAATAATTAATAATAACATGTAATT AATTATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02818.hp2 HG02896.hp1 others(3): Show HG01891.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 NA19030.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0133 a0001c0001t0001g0212 a0001c0001t0001g0213 others(2): Show a0001c0001t0001g0133 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0227 a0003c0003t0001g0043	6	157	0.0382	206	c.38- others(221): Show c.38-3042_38-3041insTATAATTAATTACATGTTATTATTAATTAT TAATTTATAATTAATTACATGTTATTATTAATTATTAATTTATAATTAAT TACATGTTATTATTAATTATTAATTTATAATTAATTACATGTTATTATTA ATTATTAATTTATAATTAATTACATGTTATTATTAATTATAAATTTATAA TTAATTACATGTTATTATTAATTATA	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3			chr4	TogoVar
HMGB4_chr1_33859079_33869791	33864929	A A	AGGAGAAG others(199): Show AGGAGAAGGGAAGGGAGGGGAAGGGAGGGAGAAGGAGTGGGATGGAGGGA GAGAAGGGGGAGGAGGGGGAGGGAGAGGATGGGGAGAGTGAGGAGGGGAG GGGAGGGGAGGGAGAGGAGGGGAAGGGAGGGAGAGGAGGGGGAGAGAGGG GAAGGGAGGGAGAGGAGGGGGGAGAGAGGGGAAGGGAGGGAGGGGAGGGG GAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	20	0.0500	206	c.17 others(215): Show c.177_*178insGGAGAAGGGAAGGGAGGGGAAGGGAGGGAGAAGGAG TGGGATGGAGGGAGAGAAGGGGGAGGAGGGGGAGGGAGAGGATGGGGAGA GTGAGGAGGGGAGGGGAGGGGAGGGAGAGGAGGGGAAGGGAGGGAGAGGA GGGGGAGAGAGGGGAAGGGAGGGAGAGGAGGGGGGAGAGAGGGGAAGGGA GGGAGGGGAGGGGGAGGGAG	HMGB4	ENSG00000176256.11	transcript	ENST00000681531.1	protein_coding		139		chr1	TogoVar
IL1RAPL2_chrX_104561199_105772829	105307546	A A	AATATATA others(199): Show AATATATATATTTTATATTATATATATTATATATAATATATATATTTTAT ATTATATATATTATATATAATATATATATTTTATATTATATATATTATAT ATAATATATATATTTTATATTATATATATTATATATAATATATATATTTT ATATTATATATATTATATATAATATATATATTTTATATTATATATATTAT ATATAAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	114	0.0088	206	c.697 others(225): Show c.697+40013_697+40014insATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATATATTTTA TATTATATATATTATATATAATATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IMPA1_chr8_81651914_81691325	81684560	A A	ATGTGTAG others(199): Show ATGTGTAGTATATATACTACACATAAGTATCTTTAGATACTTATGTGTAG TATATATACTACACATAAGTATCTTTAGATACTTATGTGTAGTATATATA CTACACATAAGTATCTTTAGATACTTATGTGTAGTATATATACTACACAT AGTATCTTTAGATACTATGTGTAGTATATATACTACACATAAGTATCTTT AGATACT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0085 a0001c0001t0009g0085	1	222	0.0045	206	c.-25 others(223): Show c.-25+1691_-25+1692insAGTATCTAAAGATACTTATGTGTAGTAT ATATACTACACATAGTATCTAAAGATACTATGTGTAGTATATATACTACA CATAAGTATCTAAAGATACTTATGTGTAGTATATATACTACACATAAGTA TCTAAAGATACTTATGTGTAGTATATATACTACACATAAGTATCTAAAGA TACTTATGTGTAGTATATATACTACACA	IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding	1/8			chr8	TogoVar
INPP5D_chr2_233055342_233212903	233137886	A A	ACACATAT others(199): Show ACACATATATATGTGTATATATATATATACATATATGTGTATATATATAT ATACACATATATGTGTATATATATACACATATATATGTATATATATATAC ACATATATGTGTATATATATACACATATATATGTATATATATATACACAT ATATGTGTATATATATACACATATATATGTATATATATATACACATATAT ATATGTG	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18943.hp2 NA19011.hp2 others(1): Show HG01975.hp1 NA18943.hp2 NA19011.hp2 NA20905.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0002 a0001c0006t0001 a0001c0006t0002	a0001c0006t0001g0126 a0001c0006t0001g0142 a0001c0006t0002g0155 others(1): Show a0001c0006t0001g0126 a0001c0006t0001g0142 a0001c0006t0002g0155 a0001c0006t0002g0161	4	262	0.0153	206	c.666 others(223): Show c.666-1956_666-1955insCACATATATATGTGTATATATATATATA CATATATGTGTATATATATATATACACATATATGTGTATATATATACACA TATATATGTATATATATATACACATATATGTGTATATATATACACATATA TATGTATATATATATACACATATATGTGTATATATATACACATATATATG TATATATATATACACATATATATATGTG	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	5/26			chr2	TogoVar
INPP5D_chr2_233055342_233212903	233137886	A A	ATACACAT others(199): Show ATACACATATATATGTGTATATATATATATACATATATGTGTATATATAT ATACACATATATGTGTATATATATACACATATATATGTATATATATATAC ACATATATGTGTATATATATACACATATATATGTATATATATATACACAT ATATGTGTATATATATACACATATATATGTATATATATATACACATATAT ATATGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0097 a0001c0004t0001g0097	1	259	0.0039	206	c.666 others(223): Show c.666-1954_666-1953insCACATATATATGTGTATATATATATATA CATATATGTGTATATATATATACACATATATGTGTATATATATACACATA TATATGTATATATATATACACATATATGTGTATATATATACACATATATA TGTATATATATATACACATATATGTGTATATATATACACATATATATGTA TATATATATACACATATATATATGTGTA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
IPO7_chr11_9379652_9453127	9397329	A A	ACAAAAAA others(199): Show ACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	311	0.0032	206	c.85- others(221): Show c.85-5961_85-5960insCAAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAATAT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24			chr11	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(199): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATGATATATGAAATATATA TATGATATATGAAATATATATATGATATATGAAATATATATATGATATAT ATATGAAATATATATATGATATATATATGAAATATATATATGATATATAT ATGAAAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	54	0.0185	206	c.25- others(221): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATGATATA TGAAATATATATATGATATATGAAATATATATATGATATATGAAATATAT ATATGATATATATATGAAATATATATATGATATATATATGAAATATATAT ATGATATATATATGAAATATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IZUMO3_chr9_24537952_24550897	24546511	T T	TCTTTTCT others(199): Show TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01346.hp1 HG02965.hp1 others(4): Show HG01081.hp2 HG01346.hp1 HG02965.hp1 HG02976.hp1 HG03654.hp1 NA18951.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0022 a0001c0001t0002g0041 a0001c0001t0002g0078 others(4): Show a0001c0001t0002g0022 a0001c0001t0002g0041 a0001c0001t0002g0078 a0001c0002t0002g0008 a0001c0002t0002g0016 a0001c0002t0002g0019 a0001c0002t0002g0021	7	328	0.0213	206	c.-86 others(215): Show c.-863_-862insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		615		chr9	TogoVar
JAKMIP3_chr10_132060946_132189858	132159691	T T	TGGGGGCA others(199): Show TGGGGGCATGTCTTCCTGTGTGATACTGGGGGGGCCTCTTCCTGTGTGAT GCTGGGGGGCCTCTTCCTGTGTGATGCTGCGGGGGGGTCTATTCCTGTGT CTTACTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCAGTG TGATGCTGGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGCCTCTCGCTGT GTGATGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00639.hp2 HG00099.hp1 HG00639.hp1 HG00639.hp2	a0003 a0004 a0003 a0004	a0003c0002 a0004c0036 a0003c0002 a0004c0036	a0003c0002t0001 a0004c0036t0001 a0003c0002t0001 a0004c0036t0001	a0003c0002t0001g0001 a0003c0002t0001g0034 a0004c0036t0001g0039 a0003c0002t0001g0001 a0003c0002t0001g0034 a0004c0036t0001g0039	3	148	0.0203	206	c.222 others(225): Show c.2221-3518_2221-3517insGGGGGCATGTCTTCCTGTGTGATACT GGGGGGGCCTCTTCCTGTGTGATGCTGGGGGGCCTCTTCCTGTGTGATGC TGCGGGGGGGTCTATTCCTGTGTCTTACTGGGGGGGCCTCTCCCTGTGTG ATGCTGGGGAGCCTCTTCCAGTGTGATGCTGGGGGGGTCTCTTCCTGTGT GATGCTGGGGGGCCTCTCGCTGTGTGATGC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160084	G G	GCCTCTCG others(199): Show GCCTCTCGCTGTGTGATGCTGGGGGGCCTCTCCCTGTGTGATGCTGGGGG GGTCTCTTCCTGTGTGATGCTGGGGGGTCTCTTCCTGTGTGATGCTGGGG GGGGGTCTCCCTGTGTGATGCTGGGGGGGCCTCTTCCTGTGTGATGCTGG TGGGGGTCTACTTCTATGTCTTACTGGGGGGGGCCTCTCCCTGTGTGATG CTGGGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA20300.hp1 HG01884.hp2 NA20300.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0009 a0002c0010t0009	a0002c0010t0009g0086 a0002c0010t0009g0089 a0002c0010t0009g0086 a0002c0010t0009g0089	2	102	0.0196	206	c.222 others(225): Show c.2221-3125_2221-3124insCCTCTCGCTGTGTGATGCTGGGGGGC CTCTCCCTGTGTGATGCTGGGGGGGTCTCTTCCTGTGTGATGCTGGGGGG TCTCTTCCTGTGTGATGCTGGGGGGGGGTCTCCCTGTGTGATGCTGGGGG GGCCTCTTCCTGTGTGATGCTGGTGGGGGTCTACTTCTATGTCTTACTGG GGGGGGCCTCTCCCTGTGTGATGCTGGGGA	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JPH2_chr20_44101590_44192188	44134139	A A	AATAAATA others(199): Show AATAAATATTTATTATAAATATATAAATATTTATTATAAATATATAAATA TTATAAATATATAAATATTTATTATAAATATATAAATATTTATTATAAAT ATATAAATATTTATTATAAATATATAAATATTTATTATAAATATATAAAT ATTTATTATAAATATATAAATATTTATTATAAATATATAAATATTTATTA TAAATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18970.hp1 NA19065.hp2 NA18961.hp1 NA18970.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0043 a0001c0001t0003g0087 a0001c0001t0015g0135 a0001c0001t0003g0043 a0001c0001t0003g0087 a0001c0001t0015g0135	3	297	0.0101	206	c.117 others(227): Show c.1170-15517_1170-15516insATATTTATAATAAATATTTATATA TTTATAATAAATATTTATATATTTATAATAAATATTTATATATTTATAAT AAATATTTATATATTTATAATAAATATTTATATATTTATAATAAATATTT ATATATTTATAATAAATATTTATATATTTATAATATTTATATATTTATAA TAAATATTTATATATTTATAATAAATATTTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KATNIP_chr16_27545144_27785344	27713814	A A	ACATATTA others(199): Show ACATATTATATATATGTGTATATATATACACATACATATTATATATATGT GTGTGTATATATATACACACACATATTATATATATGTGTGTGTATATATA TACACATACATATTATATATATGTGTGTGTATATATATACACATACATAT TATATATATGTGTGTGTATATGTATATATACACATATTATATATGTGTGT GTGTGTG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18962.hp1 NA18950.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0067 a0002c0002t0003g0072 a0002c0002t0003g0067 a0002c0002t0003g0072	2	141	0.0142	206	c.160 others(225): Show c.1605+4894_1605+4895insCATATTATATATATGTGTATATATAT ACACATACATATTATATATATGTGTGTGTATATATATACACACACATATT ATATATATGTGTGTGTATATATATACACATACATATTATATATATGTGTG TGTATATATATACACATACATATTATATATATGTGTGTGTATATGTATAT ATACACATATTATATATGTGTGTGTGTGTG	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27			chr16	TogoVar
KCNQ2_chr20_63395208_63477655	63443418	C C	CCACCATC others(199): Show CCACCATCACCATCACCACCATCACCATCACCACCACCACCACCACCATC ACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACC ATCACCACCATCATCACCACCATCACCATCACCATCATCACCACCACCAT CACCATTATCACCACCACCACCATCACCATCACCACCATCACCACCACCA CCACCAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02015.hp1 HG02040.hp1 HG00609.hp1 HG02015.hp1 HG02040.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0279 a0001c0003t0003g0280 a0001c0003t0003g0283 a0001c0003t0003g0279 a0001c0003t0003g0280 a0001c0003t0003g0283	3	203	0.0148	206	c.691 others(221): Show c.691-888_691-887insATGGTGGTGGTGGTGGTGATGGTGGTGATG GTGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGATGGTGAT GGTGATGGTGGTGATGATGGTGGTGATGGTGATGTGATGGTGGTGATGGT GATGGTGGTGATCATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGA TGGTGATGGTGGTGATGGTGATGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63443418	C C	CCACCATC others(199): Show CCACCATCACCATCACCACCATCACCATCACCATCACCACCACCACCATC ACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACC ATCACCACCATCATCACCACCATCACCATCACCATCATCACCACCACCAT CACCATTACCACCACCACCACCATCACCATCACCACCATCACCACCACCA CCACCAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0026 a0001c0008t0026	a0001c0008t0026g0285 a0001c0008t0026g0285	1	201	0.0050	206	c.691 others(221): Show c.691-888_691-887insATGGTGGTGGTGGTGGTGATGGTGGTGATG GTGATGGTGGTGGTGGTGGTAATGGTGATGGTGGTGGTGATGATGGTGAT GGTGATGGTGGTGATGATGGTGGTGATGGTGATGTGATGGTGGTGATGGT GATGGTGGTGATCATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGA TGGTGATGGTGGTGATGGTGATGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63443418	C C	CCACCATC others(199): Show CCACCATCACCATCACCACCATCACCATCACCATCACCACCACCACCATC ACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACC ATCACCACCATCATCACCACCATCACCATCACCATCATCACCACCACCAT CACCATTATCACCACCACCACCATCACCATCACCACCATCACCACCACCA CCACCAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(55): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01256.hp1 HG01258.hp2 HG01993.hp1 HG02004.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02738.hp1 HG03239.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp2 NA18939.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18952.hp2 NA18962.hp2 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18990.hp2 NA18999.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19064.hp2 NA19074.hp1 NA19081.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0003 a0001c0008 a0001c0009 others(4): Show a0001c0003 a0001c0008 a0001c0009 a0002c0006 a0002c0019 a0003c0026 a0005c0027	a0001c0003t0003 a0001c0003t0009 a0001c0003t0012 others(24): Show a0001c0003t0003 a0001c0003t0009 a0001c0003t0012 a0001c0003t0014 a0001c0003t0015 a0001c0003t0017 a0001c0003t0020 a0001c0003t0083 a0001c0003t0089 a0001c0003t0091 a0001c0003t0092 a0001c0003t0093 a0001c0003t0095 a0001c0003t0096 a0001c0008t0025 a0001c0008t0026 a0001c0008t0088 a0001c0009t0003 a0001c0009t0087 a0002c0006t0002 a0002c0006t0016 a0002c0006t0036 a0002c0006t0037 a0002c0006t0090 a0002c0019t0015 a0003c0026t0086 a0005c0027t0094	a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0272 others(55): Show a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0272 a0001c0003t0003g0273 a0001c0003t0003g0277 a0001c0003t0003g0286 a0001c0003t0003g0289 a0001c0003t0003g0296 a0001c0003t0003g0314 a0001c0003t0003g0315 a0001c0003t0009g0176 a0001c0003t0009g0206 a0001c0003t0009g0208 a0001c0003t0009g0251 a0001c0003t0012g0290 a0001c0003t0012g0297 a0001c0003t0012g0298 a0001c0003t0012g0300 a0001c0003t0012g0301 a0001c0003t0014g0033 a0001c0003t0015g0271 a0001c0003t0015g0305 a0001c0003t0017g0317 a0001c0003t0017g0318 a0001c0003t0017g0319 a0001c0003t0017g0320 a0001c0003t0020g0113 a0001c0003t0083g0016 a0001c0003t0089g0266 a0001c0003t0091g0265 a0001c0003t0092g0299 a0001c0003t0093g0287 a0001c0003t0095g0309 a0001c0003t0096g0261 a0001c0008t0025g0275 a0001c0008t0025g0308 a0001c0008t0025g0310 a0001c0008t0026g0274 a0001c0008t0026g0276 a0001c0008t0088g0281 a0001c0009t0003g0260 a0001c0009t0003g0284 a0001c0009t0003g0292 a0001c0009t0003g0312 a0001c0009t0003g0313 a0001c0009t0087g0259 a0002c0006t0002g0114 a0002c0006t0002g0159 a0002c0006t0016g0268 a0002c0006t0016g0316 a0002c0006t0036g0267 a0002c0006t0036g0269 a0002c0006t0037g0303 a0002c0006t0090g0306 a0002c0019t0015g0278 a0002c0019t0015g0288 a0003c0026t0086g0258 a0005c0027t0094g0291	58	258	0.2248	206	c.691 others(221): Show c.691-888_691-887insATGGTGGTGGTGGTGGTGATGGTGGTGATG GTGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGATGGTGAT GGTGATGGTGGTGATGATGGTGGTGATGGTGATGTGATGGTGGTGATGGT GATGGTGGTGATCATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGA TGGTGATGGTGGTGATGGTGATGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
LGR6_chr1_202188799_202324761	202205379	C C	CACCTAAC others(199): Show CACCTAACACACACCTCCTTCAAACACACAAACCTCCAGCACACACACCT AACACATACCTCCTTCAAACACACACCTCCACACACACACACCTAACACA CACCTCCTTCAAACACACACACCTCCAAACACACACACACCTAACACACA CACCTTCAAACACACACACACCTAACACACACCTCCTTCAAACACACACC CTCCAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0003 a0017c0019t0003	a0017c0019t0003g0020 a0017c0019t0003g0020	1	259	0.0039	206	c.212 others(225): Show c.212+11178_212+11179insACCTAACACACACCTCCTTCAAACAC ACAAACCTCCAGCACACACACCTAACACATACCTCCTTCAAACACACACC TCCACACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCA AACACACACACACCTAACACACACACCTTCAAACACACACACACCTAACA CACACCTCCTTCAAACACACACCCTCCAAA	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17			chr1	TogoVar
LHFPL3_chr7_104323603_104913561	104824184	A A	AATATATA others(199): Show AATATATATATTATATATTATATATTATATATATTATATATTATATATAT TATATTATATATTATATATATAATATATTATATATTATATATATATTATA TAATATATTATATATTATATATATTATATAATATATTATATATATAATTA TATATATTTTATATATTATATATTATATATTATATATTATATACATTATA TATAATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00621.hp2 others(11): Show HG00099.hp2 HG00323.hp2 HG00621.hp2 HG01070.hp2 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG02280.hp1 HG02280.hp2 HG02809.hp2 NA18612.hp2 NA19085.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 others(11): Show a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0002g0001 a0001c0001t0002g0034 a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0003g0046 a0001c0001t0004g0029 a0001c0001t0004g0036 a0001c0001t0004g0040 a0001c0001t0005g0031 a0001c0001t0007g0066	14	78	0.1795	206	c.683 others(225): Show c.683-81995_683-81994insATTATATATTATATATTATATATATT ATATATTATATATATTATATTATATATTATATATATAATATATTATATAT TATATATATATTATATAATATATTATATATTATATATATTATATAATATA TTATATATATAATTATATATATTTTATATATTATATATTATATATTATAT ATTATATACATTATATATAATTATATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104833052	A A	AATAGATA others(199): Show AATAGATATATTATATATATATATTATATATAATAGATATATTATATATA ATATATTATATATAATAGATATATTATATATATATTATATATAATAGATA TATTATATATAATATATTATATATAATAGATATATTATATATATTATATA TAATAGATATATTATATATATCTATTATATATAATAGATATATATTATAT ATATATC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0049 a0001c0001t0013g0049	1	4	0.2500	206	c.683 others(225): Show c.683-73135_683-73134insATAGATATATTATATATATATATTAT ATATAATAGATATATTATATATAATATATTATATATAATAGATATATTAT ATATATATTATATATAATAGATATATTATATATAATATATTATATATAAT AGATATATTATATATATTATATATAATAGATATATTATATATATCTATTA TATATAATAGATATATATTATATATATATC	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LMF1_chr16_848634_975984	857984	C C	CGTGGTGT others(199): Show CGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCTCGGGACGGGTGTGAGTGGTCTCGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGG GTGTGCA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0064 a0001c0004t0001g0064	1	182	0.0055	206	c.153 others(225): Show c.1530-3279_1530-3278insTGCACACCCATCCCGTGACACCACGC ACACCCATCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGT CCCGAGACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGAGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858052	G G	GAGTGGTG others(199): Show GAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGT GGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTG TCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCAC GGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGA TGGGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG04184.hp1 HG00597.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0209 a0001c0001t0001g0185 a0001c0001t0001g0209	2	171	0.0117	206	c.153 others(225): Show c.1530-3347_1530-3346insACACCCATCCCGAGACACCACGCACA CCCATCCCGAGACACCACGCACACCCATCCCGTGACACCACGCACACCCA TCCCGAGACACCACTCACACCCATCCCGTGACACCACGCACACCCATCCC GAGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAGA CACCACTCACACCCATCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858052	G G	GAGTGGTG others(199): Show GAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGT GGTGTCACGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTGGTG TCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCAC GGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGA TGGGTGT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0190 a0001c0003t0001g0190	1	170	0.0059	206	c.153 others(225): Show c.1530-3347_1530-3346insACACCCATCCCGAGACACCACGCACA CCCATCCCGAGACACCACGCACACCCATCCCGTGACACCACGCACACCCA TCCCGAGACACCACTCACACCCATCCCGTGACACCACGCACACCCATCCC GAGACACCACGCACACCCATCCCGTGACACCACTCACACCCATCCCGAGA CACCACTCACACCCATCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LUZP2_chr11_24492053_25087638	25044079	A A	ATATATAT others(199): Show ATATATATAGTCTATATATATATCTGATATATATATAGTCTATATATATC TGATAAGACTATATATATATCTGATATATATATAGACTCTATATATCAGA GATATATAGAGTCTATATATATCAGATATATATATAGAGTCTATATATCT CTGATATATAGAGTCTATATATATCTCTGATATATAGAGTCTATATATCT GATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0039 a0001c0001t0006g0039	1	96	0.0104	206	c.766 others(223): Show c.766-5959_766-5958insTATATATAGTCTATATATATATCTGATA TATATATAGTCTATATATATCTGATAAGACTATATATATATCTGATATAT ATATAGACTCTATATATCAGAGATATATAGAGTCTATATATATCAGATAT ATATATAGAGTCTATATATCTCTGATATATAGAGTCTATATATATCTCTG ATATATAGAGTCTATATATCTGATATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11			chr11	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(199): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0134 a0001c0001t0004g0134	1	378	0.0026	206	c.40 others(217): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGA AAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAA AGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAA AGAAAGGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAA AGAAAGAAAGAAAGAAAGTTAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
MAD1L1_chr7_1810795_2237945	1930327	A A	ACTGCCAC others(199): Show ACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGT CCCCTCGCCCCATCCCCCACTGCCACGTCCCCATCGCCCCGTCCCCACTG CCACAACCCACCACCACGTCCACACTGCCACGTCCCCTCGCCCCGTCCCC GCTGCCACGTCCCCTCGCCCCATCCCCCACCGCCACGTCCCCATCGCCCC GTCCCCG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0194 a0004c0008t0001g0194	1	246	0.0041	206	c.180 others(225): Show c.1807+6359_1807+6360insCGGGGACGGGGCGATGGGGACGTGGC GGTGGGGGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGAC GTGGCAGTGTGGACGTGGTGGTGGGTTGTGGCAGTGGGGACGGGGCGATG GGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGGGGCGAGGGGACGTGG CAGTGGGGACGGGGCGAGGGGACGTGGCAG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(199): Show ATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAT AAATATATAACTATAATTTATATAAATATATAACTATAATTTATATAAAT ATATAAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0068 a0068	a0068c0044 a0068c0044	a0068c0044t0001 a0068c0044t0001	a0068c0044t0001g0014 a0068c0044t0001g0014	1	8	0.1250	206	c.342 others(225): Show c.3420-8498_3420-8497insAACTATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TATAAATATATAACTATAATTTATATAAATATATAACTATAATTTATATA AATATATAACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCCG others(199): Show ACCCCCCGCCCCACACACACACACCCCCCGCCCCGCCCCAGGGTGGGAGC CACACACCCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCCGCC CCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACAC CCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCGCCCCACA CACACAC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	259	0.0039	206	c.557 others(223): Show c.557-2677_557-2676insCGCCCCACACACACACACCCCCCGCCCC GCCCCAGGGTGGGAGCCACACACCCCCCGCCCTGCCCCAGGGTGGGAGCC ACACACACCCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTG GGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACA CACACCCCGCCCCACACACACACCCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT4C_chr12_85950667_86261391	86110302	A A	ATATAGTC others(199): Show ATATAGTCTATATATATATATAGTCTATATATATATAGACTATATATATA TATAGACTATATATATAGTCTATATATATATAGTCTATATATATATATAG TCTATATATATATAGTCTATATATATATATAGTCTATATATATAGTCTAT ATATATATAGTCTATATATATATAGTCTATATATATATAGTCTATATATA TATAGTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp2 HG02615.hp2 others(2): Show HG00639.hp2 HG01884.hp2 HG02615.hp2 HG02622.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0069 a0001c0001t0074 a0001c0001t0005 a0001c0001t0069 a0001c0001t0074	a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0179 others(2): Show a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0179 a0001c0001t0069g0157 a0001c0001t0074g0049	5	142	0.0352	206	c.-56 others(225): Show c.-56-60580_-56-60579insGACTATATATATATAGACTATATATA TATAGACTATATATATATAGACTATATATATATAGACTATATATATAGAC TATATATATATATAGACTATATATATATAGACTATATATATATATAGACT ATATATATATAGACTATATATATAGTCTATATATATATATAGTCTATATA TATATAGACTATATATATATATAGACTATA	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(199): Show CTTTCCTTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0148	1	85	0.0118	206	c.107 others(225): Show c.1074-5164_1074-5163insTTTCCTTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(199): Show CTTTCCTTTCCTTTCCTTTCCTTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0130 a0001c0002t0002g0130	1	85	0.0118	206	c.107 others(225): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(199): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTCTCCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0159 a0002c0003t0002g0159	1	85	0.0118	206	c.107 others(225): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTCTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar

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