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
CROCC2_chr2_240901336_240998311	240923922	G G	GTCCCCAC others(204): Show GTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACC CAGCCCCCCACACTAACCCAGCCCCCCACACTATCCCGGCCCCCACACTA ACCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACA CTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCA CACTGACCCGGC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0215 a0010c0010t0001g0215	1	213	0.0047	211	c.488 others(228): Show c.488+1277_488+1278insTCCCCACACTGACCCAGCCCCCACACTA ACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCAC ACTATCCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCA ACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCC CCCACACTGACCCGGCCCCCACACTGACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923922	G G	GTCCCCAC others(204): Show GTCCCCACACTGACCCAGCCCCCACACTAACCGGGCCCCCCACACTAACC CAGCCCCCCACACTAACCCAGCCCCCCACACTATCCCGGCCCCCACACTA ACCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACA CTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCA CACTGACCCGGC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0212 a0007c0007t0001g0212	1	213	0.0047	211	c.488 others(228): Show c.488+1277_488+1278insTCCCCACACTGACCCAGCCCCCACACTA ACCGGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCAC ACTATCCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCA ACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCC CCCACACTAACCCAGCCCCCACACTGACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CRY1_chr12_106986364_107098549	107026134	C C	CATATATA others(204): Show CATATATATTACATATATAACATATATAACATATATATGTTATATATGTT ATATATGTAATATATATTATATATATATTACATATATATAAAATATATAT ATATATTACATATATATAAAATATATATATATATTACATATATATATAAA ATATATATATATATTACATATATATAAAAAATATATATATATTACATATA TATATAAAATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0156 a0001c0001t0008g0156	1	301	0.0033	211	c.159 others(228): Show c.159-3943_159-3942insATATTTTATATATATATGTAATATATAT ATATTTTTTATATATATGTAATATATATATATATTTTATATATATATGTA ATATATATATATATTTTATATATATGTAATATATATATATATTTTATATA TATGTAATATATATATAATATATATTACATATATAACATATATAACATAT ATATGTTATATATGTTATATATGTAATATATAT	CRY1	ENSG00000008405.12	transcript	ENST00000008527.10	protein_coding	1/12			chr12	TogoVar
CST9_chr20_23597410_23610917	23610481	T T	TATTTTTT others(204): Show TATTTTTTATTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTATTGTTTTTTTTTTCTTTTTTTTTTTTATTTTTTT TTTTTTCTTTTTTTTTTTTATTTTTATTTTTTTTTTACTTGTTTTTTTTT TTTTTTTTTTTTTTTTCTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTGT TATTTTTGTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	420	0.0024	211	c.-46 others(222): Show c.-4618_-4617insGAAACAAAAATAACAAAAAAAAAAAAAAAAAAAG AAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAACAAGTAAAAAAAA AATAAAAATAAAAAAAAAAAAGAAAAAAAAAAAAATAAAAAAAAAAAAGA AAAAAAAAACAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA AAAAAAAAAAAAAAAAAAATAAAAAAT	CST9	ENSG00000173335.5	transcript	ENST00000376971.4	protein_coding		4565		chr20	TogoVar
CSTF3_chr11_33079584_33166480	33148534	T T	TAAAAATA others(204): Show TAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCTGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	339	0.0029	211	c.28- others(226): Show c.28-6549_28-6548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTTGTATTTTT	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding	1/20			chr11	TogoVar
CYP4F11_chr19_15907377_15939529	15933443	A A	AGTGTGCG others(204): Show AGTGTGCGGGCAGAGGAATGAGTGAGCGGGAGAGGAATGAAGTGAGCGGG GAGAGGAGATGAGTGAGCGGAGGAGAGGAATGAGTGAGCGAGGAGAGGAG TGAGTGAGCGAGAGAGGAAGTGAGTGAGCGGCAGAGGAAGTGAGTGAGCG GGGAGAGGAGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGG AATGAGTGAGCG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0363 a0002c0001t0006g0363	1	209	0.0048	211	c.198 others(226): Show c.198+767_198+768insCGCTCACTCATTCCTCTGCCCGCTCACTCA TTCCTCTGCCCGCTCACTCATTCTCCTCTCCCCGCTCACTCACTTCCTCT GCCGCTCACTCACTTCCTCTCTCGCTCACTCACTCCTCTCCTCGCTCACT CATTCCTCTCCTCCGCTCACTCATCTCCTCTCCCCGCTCACTTCATTCCT CTCCCGCTCACTCATTCCTCTGCCCGCACAC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DDX51_chr12_132131594_132149319	132135938	G G	GCTCCTCC others(204): Show GCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGG TGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCC ACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGC CCACGGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG00738.hp2 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	329	0.0061	211	c.33 others(222): Show c.3333_*3334insTGGGCACCGTGGGCACACTCGGGGAGGTGGGAGG AGCGGGCACCGGGGCACACTCGGGAGGTGGGAGGAGCGGGCACCGTGGGC ACACTCGGGGAGGTGGGAGGAGCGGGCACCGGGGCACACTCGGGAGGTGG GAGGAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACC GTGGGCACACTCGGGAGGTGGGAGGAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		655		chr12	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGGGGGTG others(204): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG03579.hp1 HG02559.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0019 a0001c0001t0007g0114 a0001c0001t0001g0019 a0001c0001t0007g0114	2	325	0.0062	211	c.-42 others(222): Show c.-4261_-4260insGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4181		chr16	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(204): Show TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	218	0.0046	211	c.101 others(230): Show c.101-32145_101-32144insCTCTCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DLGAP1_chr18_3491032_4460307	3741020	C C	CCACCACC others(204): Show CCACCACCACCACCACCATCACCTCACCACCACCACCACCATCACCACCA CCACCACCACCATCACCTCACCACCACCACCATCACCACCACCACCACCA CCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACC ACCACCACCACATCACCTCACCACCACCACCACCATCACCACCACCATCA CCACCATCACCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19043.hp2 HG02257.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0038 a0001c0001t0012 a0001c0001t0038	a0001c0001t0012g0053 a0001c0001t0038g0075 a0001c0001t0012g0053 a0001c0001t0038g0075	2	60	0.0333	211	c.135 others(230): Show c.1350+1314_1350+1315insAGGTGATGGTGGTGATGGTGGTGGTG ATGGTGGTGGTGGTGGTGAGGTGATGTGGTGGTGGTGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGAGGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGAGGTGATGGTGGTGGTGGTGGTG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	6/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1691791	T T	TCGGCCCT others(204): Show TCGGCCCTGGTTTAAACACGGTACCGAGGCAGGGAGGCGGATACGGCCCT GGTTTAAACGCGGTACCGAGGCAGGGAGCCGGATACGGCCCTGGTTTAAA CGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTAC CGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCTGGTACCGAGGCA GGGAGCCGGATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	34	0.0294	211	c.279 others(228): Show c.2796+181_2796+182insACGGTACCGAGGCAGGGAGGCGGATACG GCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGCCGGATACGGCCCTGGT TTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGC GGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCTGGTACCG AGGCAGGGAGCCGGATACGGCCCTGGTTTAAAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32554832	G G	GAGAAGGT others(204): Show GAGAAGGTAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGA AAGAAAGAAGAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0030 a0030	a0030c0047 a0030c0047	a0030c0047t0013 a0030c0047t0013	a0030c0047t0013g0005 a0030c0047t0013g0005	1	121	0.0083	211	c.199 others(230): Show c.1993-9499_1993-9498insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTCTTACCTTCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32554832	G G	GAGAAGGT others(204): Show GAGAAGGTAAGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0061 a0007c0018t0001g0061	1	121	0.0083	211	c.199 others(230): Show c.1993-9499_1993-9498insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTCCTTCCTTCTTACCTTCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(204): Show AATATATATAATATGTATATATAATATATATATAATATGTATATATAATA TATATATAATATATATAATATATATAATATATATATAATATATATAATAT ATATATAATATATATATTATATATATTATATATATAATATATATATAATA TATATATAATATATATATAATATATATATTTAAAAGTATATATATATATA ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	51	0.0196	211	c.554 others(228): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATAATATATATAATATATATAATATAT ATATAATATATATAATATATATATAATATATATATTATATATATTATATA TATAATATATATATAATATATATATAATATATATATAATATATATATTTA AAAGTATATATATATATAATATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPEP1_chr16_89608642_89643433	89619070	T T	TGCTCCCC others(204): Show TGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	200	0.0050	211	c.-10 others(230): Show c.-107+5368_-107+5369insCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619070	T T	TGCTCCCC others(204): Show TGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	200	0.0050	211	c.-10 others(230): Show c.-107+5368_-107+5369insCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619306	C C	CCCCCCCT others(204): Show CCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCA TGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCC TGCAGCTCCATG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	220	0.0045	211	c.-10 others(230): Show c.-107+5593_-107+5594insTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619366	C C	CCCCCCTG others(204): Show CCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCC TGCAGCCCCCTG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0174 a0002c0002t0001g0174	1	237	0.0042	211	c.-10 others(230): Show c.-107+5652_-107+5653insTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCAT GCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619434	T T	TGCTCCCC others(204): Show TGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGC TCCATGCCCCCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	160	0.0063	211	c.-10 others(230): Show c.-107+5736_-107+5737insCTGCCCCCCCGCTCCCCTCCCTGCAG CCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCA GCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89638669	A A	ACACACAC others(204): Show ACACACACACACACCCCACCCCTGCACACACACACACACACCGCACCCCT GCACACACACACACTGCACCCCTGCACACACACACACCCCATCCCTGCAC GCACACACCCCACCCCTGCACGCACACACCCCCCACCCCTGCACACACAC ACCCCACCCCTGCACACACACACATACCCCACCCCTGCACACACACACAC ACCCCACCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	247	0.0040	211	c.44 others(220): Show c.447_*448insCACACACACACACCCCACCCCTGCACACACACACAC ACACCGCACCCCTGCACACACACACACTGCACCCCTGCACACACACACAC CCCATCCCTGCACGCACACACCCCACCCCTGCACGCACACACCCCCCACC CCTGCACACACACACCCCACCCCTGCACACACACACATACCCCACCCCTG CACACACACACACACCCCACCCCTG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding		237		chr16	TogoVar
DYM_chr18_49031387_49465645	49440986	T T	TAATATAT others(204): Show TAATATATATAATATATATAATATATTTATATAATATATTATATATAATA TATTATATAATATATAATATATTTATATAAATATATTATATTTTATATAT ATATTATATAATATATAATATATTTATATTATATATTATATATATATTTA TATATAATATATAAATATATAATATATTTATATATTATATATATATTTAT ATATAATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0008 a0001c0003t0026g0008	1	281	0.0036	211	c.-53 others(230): Show c.-53-10540_-53-10539insTATATATTATATATAAATATATATAT AATATATAAATATATTATATATTTATATATTATATATAAATATATATATA ATATATAATATAAATATATTATATATTATATAATATATATATAAAATATA ATATATTTATATAAATATATTATATATTATATAATATATTATATATAATA TATTATATAAATATATTATATATATTATATATATT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EXOC2_chr6_480154_698139	501582	A A	ATTATATA others(204): Show ATTATATATATCTATATATTATCTATATATTATATATATCTATATATAAT CTATATATTATATATATCTATATATATTATATATATATTATATATATCTA TATATATTATATATAATATATAGATATATATTATATATCTATATATATTA TATATATTATATATATCATATATATTATATATAATATATAGATATATATT ATATATCTATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	252	0.0040	211	c.238 others(230): Show c.2381-1883_2381-1882insATATAGATATATAATATATATCTATA TATTATATATAATATATATGATATATATAATATATATAATATATATAGAT ATATAATATATATCTATATATTATATATAATATATATAGATATATATAAT ATATATATAATATATATAGATATATATAATATATAGATTATATATAGATA TATATAATATATAGATAATATATAGATATATATAA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FBN2_chr5_128252909_128543245	128540058	C C	CAGATATA others(204): Show CAGATATATCATATATCATATATATCAGATATATCATATATCATATATAT CATATATATCATATATCATATATATCATATATATCATATATCATATATAT CATATATATCATATATCATATATATCATATATATCATATATCATATATAT CATATATATCATATATCATATATATCATATATATCATATATCATATATAT CAATCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0037 a0002c0016t0037	a0002c0016t0037g0233 a0002c0016t0037g0233	1	221	0.0045	211	c.-24 others(222): Show c.-2456_-2455insTATATATGATTGATATATATGATATATGATATAT ATGATATATATGATATATGATATATATGATATATATGATATATGATATAT ATGATATATATGATATATGATATATATGATATATATGATATATGATATAT ATGATATATATGATATATGATATATATGATATATATGATATATGATATAT CTGATATATATGATATATGATATATCT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1814		chr5	TogoVar
FBRSL1_chr12_132485151_132590188	132556657	T T	TCCAACCG others(204): Show TCCAACCGCTGTCCTGTGGGACGCTCCTCTCCAGGCCTTCGTGCTGCACC CCCCTCCACCCACCCCCCTCCTGTGGGACGCTCCTCTCCAGGCCTTCATG CTGCCTCCAACCCCTGTCCTGTGGGACGCTCCTCTCCAGGCCTTCGTGCT GCACCCCCCTCCACCCACCCCCCTCCTGTGGGACGCTCCTCTCCAGGCCT TCGTGCTGCACC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(87): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01978.hp1 HG02015.hp1 HG02055.hp1 HG02080.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02735.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18960.hp2 NA18966.hp2 NA18984.hp1 NA18990.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19057.hp2 NA19088.hp2 NA19090.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0005 a0013 a0017 a0019 a0022 a0026 a0037 a0044	a0001c0003 a0001c0005 a0001c0006 others(21): Show a0001c0003 a0001c0005 a0001c0006 a0001c0012 a0001c0021 a0001c0068 a0002c0002 a0002c0004 a0004c0015 a0004c0067 a0004c0069 a0005c0051 a0005c0052 a0005c0053 a0005c0054 a0013c0034 a0013c0065 a0013c0066 a0017c0019 a0019c0018 a0022c0057 a0026c0070 a0037c0079 a0044c0077	a0001c0003t0001 a0001c0003t0003 a0001c0003t0013 others(32): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0013 a0001c0003t0036 a0001c0005t0003 a0001c0005t0005 a0001c0006t0007 a0001c0006t0016 a0001c0006t0025 a0001c0012t0007 a0001c0021t0003 a0001c0068t0003 a0002c0002t0001 a0002c0004t0001 a0002c0004t0002 a0004c0015t0001 a0004c0015t0003 a0004c0015t0007 a0004c0015t0023 a0004c0067t0003 a0004c0069t0003 a0005c0051t0015 a0005c0052t0005 a0005c0053t0005 a0005c0054t0001 a0013c0034t0005 a0013c0065t0013 a0013c0066t0003 a0017c0019t0005 a0019c0018t0006 a0019c0018t0008 a0022c0057t0008 a0026c0070t0015 a0037c0079t0003 a0044c0077t0001	a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(85): Show a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0129 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0003g0019 a0001c0003t0003g0022 a0001c0003t0003g0023 a0001c0003t0003g0025 a0001c0003t0003g0037 a0001c0003t0003g0038 a0001c0003t0003g0043 a0001c0003t0003g0044 a0001c0003t0003g0046 a0001c0003t0003g0047 a0001c0003t0003g0048 a0001c0003t0003g0049 a0001c0003t0003g0051 a0001c0003t0003g0053 a0001c0003t0003g0054 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0057 a0001c0003t0003g0059 a0001c0003t0003g0060 a0001c0003t0003g0061 a0001c0003t0003g0062 a0001c0003t0003g0267 a0001c0003t0013g0001 a0001c0003t0036g0128 a0001c0005t0003g0078 a0001c0005t0005g0052 a0001c0005t0005g0075 a0001c0005t0005g0076 a0001c0005t0005g0091 a0001c0005t0005g0092 a0001c0005t0005g0093 a0001c0005t0005g0094 a0001c0005t0005g0096 a0001c0005t0005g0098 a0001c0005t0005g0099 a0001c0005t0005g0263 a0001c0005t0005g0264 a0001c0005t0005g0265 a0001c0005t0005g0292 a0001c0006t0007g0079 a0001c0006t0016g0140 a0001c0006t0025g0009 a0001c0012t0007g0004 a0001c0021t0003g0030 a0001c0021t0003g0032 a0001c0021t0003g0033 a0001c0068t0003g0007 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0042 a0002c0004t0001g0008 a0002c0004t0002g0010 a0002c0004t0002g0039 a0002c0004t0002g0045 a0002c0004t0002g0125 a0002c0004t0002g0127 a0004c0015t0001g0014 a0004c0015t0003g0050 a0004c0015t0007g0080 a0004c0015t0023g0026 a0004c0067t0003g0036 a0004c0069t0003g0031 a0005c0051t0015g0041 a0005c0052t0005g0090 a0005c0053t0005g0077 a0005c0054t0001g0069 a0013c0034t0005g0097 a0013c0065t0013g0001 a0013c0066t0003g0035 a0017c0019t0005g0095 a0017c0019t0005g0124 a0019c0018t0006g0066 a0019c0018t0008g0002 a0022c0057t0008g0067 a0026c0070t0015g0027 a0037c0079t0003g0034 a0044c0077t0001g0058	90	333	0.2703	211	c.645 others(228): Show c.645+8631_645+8632insGCTGTCCTGTGGGACGCTCCTCTCCAGG CCTTCGTGCTGCACCCCCCTCCACCCACCCCCCTCCTGTGGGACGCTCCT CTCCAGGCCTTCATGCTGCCTCCAACCCCTGTCCTGTGGGACGCTCCTCT CCAGGCCTTCGTGCTGCACCCCCCTCCACCCACCCCCCTCCTGTGGGACG CTCCTCTCCAGGCCTTCGTGCTGCACCCCAACC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXL16_chr16_687500_710801	696678	T T	TCCCACCC others(204): Show TCCCACCCCAAAGCCACCATCCGCTCCCACCTCCATAGGGTTGCTGCTGC CCGCCCCTGCCCCCCAGCCCTGTCCCCCCCACCACCCAGCCTGGGCGCAC ACCCCCCCCACCCCAAAGCCACCATCCGCTCCCACCTCCATAGGGTTGCT GCTGCCCGCCCCTGCCCCCCAGCCCTGTCCCCCCCACCACCCAGCCTGGG CGCACACCCCCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA20129.hp2 HG02258.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	2	4	0.5000	211	c.633 others(224): Show c.633+94_633+95insGGGGGGTGTGCGCCCAGGCTGGGTGGTGGGGG GGACAGGGCTGGGGGGCAGGGGCGGGCAGCAGCAACCCTATGGAGGTGGG AGCGGATGGTGGCTTTGGGGTGGGGGGGGTGTGCGCCCAGGCTGGGTGGT GGGGGGGACAGGGCTGGGGGGCAGGGGCGGGCAGCAGCAACCCTATGGAG GTGGGAGCGGATGGTGGCTTTGGGGTGGG	FBXL16	ENSG00000127585.13	transcript	ENST00000397621.6	protein_coding	2/5			chr16	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(204): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG GAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGA GGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGCG GGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 NA20129.hp1 HG02630.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0134 a0001c0002t0001g0036 a0001c0002t0001g0134	2	20	0.1000	211	c.-20 others(220): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGA GGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGG GAGGGGATGGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GAL3ST2_chr2_241771822_241809287	241806913	T T	TTCCCTCC others(204): Show TTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAG GGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0011	1	136	0.0074	211	c.27 others(222): Show c.2747_*2748insTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2627		chr2	TogoVar
GAP43_chr3_115618510_115726483	115698212	A A	AAATATAT others(204): Show AAATATATAATATATAATATATAATATATATAAAATATATATAATATATA ATATATAATATATATAAAATATATATAATATATAATATATAATATATATA AAATATATATAATATATAATATATAATATATATAAAATATATATAATATA TAATATATAATATATATAAAATATATATAATATATAATATATAATATATA TAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0242 a0001c0001t0003g0242	1	99	0.0101	211	c.628 others(230): Show c.628+21624_628+21625insATATATATAAAATATATATAATATAT AATATATAATATATATAAAATATATATAATATATAATATATAATATATAT AAAATATATATAATATATAATATATAATATATATAAAATATATATAATAT ATAATATATAATATATATAAAATATATATAATATATAATATATAATATAT ATAAAATATATATAATATATAATATATAATATATA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GLB1L3_chr11_134271379_134324564	134321552	A A	AATATGGC others(204): Show AATATGGCACATATACTCCATGGAATACTATGCAGCCATAAAAAAGGAGG AGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTC AGCAAACTATCGCAAGGACAGAAAACCAGACCCTGCATGTTCTCACTCAT AGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCA CACACTGGGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG02809.hp2 HG02559.hp1 HG02622.hp1 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0008 a0001c0002t0015 a0002c0006t0008 a0001c0002t0008 a0001c0002t0015 a0002c0006t0008	a0001c0002t0008g0367 a0001c0002t0015g0296 a0002c0006t0008g0366 a0001c0002t0008g0367 a0001c0002t0015g0296 a0002c0006t0008g0366	3	420	0.0071	211	c.26 others(222): Show c.2610_*2611insATATGGCACATATACTCCATGGAATACTATGCAG CCATAAAAAAGGAGGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTG GAAACCATCATTCTCAGCAAACTATCGCAAGGACAGAAAACCAGACCCTG CATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACA GGAAGGGGAACATCACACACTGGGGCC	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding		1989		chr11	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCTCCCC others(204): Show CCCTCCCCCTCCTCCCTCCTCCCCCCCCCCTCCTCCCCCCTCCCCTCCTC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCTCCTCCCC CCTCCTCCCCCCCCTCCCCCCCCTCCTCCCCCCTCCCCCCCCTCCTCCCC CCTCCTCCCCCCCCCTCCCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCC CCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0009 a0004c0007t0009	a0004c0007t0009g0154 a0004c0007t0009g0154	1	160	0.0063	211	c.427 others(228): Show c.427-1072_427-1071insCCCTCCTCCCTCCTCCCCCCCCCCTCCT CCCCCCTCCCCTCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC CTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCTCCTCCCCCCT CCCCCCCCTCCTCCCCCCTCCTCCCCCCCCCTCCCCCCCCTCCTCCTCCC CCCCCTCCTCCCCCCCCCTCCTCCTCCTCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GTPBP6_chrX_299759_323796	323703	T T	TGTGTAGC others(204): Show TGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCAT AGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGG GTTCCGTCTGCCCTGTTCATAGAGACAGAATGAGGGCGTCCCCAGGTGGT GAGCTCAGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0102 a0001c0003t0001g0102	1	151	0.0066	211	c.-49 others(222): Show c.-4917_-4916insGTCCCTGAGCTCACCACCTGGGGACGCCCTCATT CTGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACG GCTACACACACACACACACACACACACACACACACCGTCCCTGAGCTCAC CACCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCC AGGAGCCCAGGAGATTGACGGCTACAC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4908		chrX	TogoVar
HMGB4_chr1_33859079_33869791	33864934	A A	AGGGGAAG others(204): Show AGGGGAAGGGAGGAGAAGGGAAGGGAGGGGAAGGGAGGGAGAAGGAGTGG GATGGAGGGAGAGAAGGGGGAGGAGGGGGAGGGAGAGGATGGGGAGAGTG AGGAGGGGAGGGGAGGGGAGGGAGAGGAGGGGAAGGGAGGGAGAGGAGGG GGAGAGAGGGGAAGGGAGGGAGAGGAGGGGGAGAGAGGGGAAGGGAGGGA GGGGAGGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02004.hp1 HG02148.hp2 others(1): Show HG01496.hp1 HG02004.hp1 HG02148.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	400	0.0100	211	c.18 others(220): Show c.182_*183insGGGGAAGGGAGGAGAAGGGAAGGGAGGGGAAGGGAG GGAGAAGGAGTGGGATGGAGGGAGAGAAGGGGGAGGAGGGGGAGGGAGAG GATGGGGAGAGTGAGGAGGGGAGGGGAGGGGAGGGAGAGGAGGGGAAGGG AGGGAGAGGAGGGGGAGAGAGGGGAAGGGAGGGAGAGGAGGGGGAGAGAG GGGAAGGGAGGGAGGGGAGGGGGAG	HMGB4	ENSG00000176256.11	transcript	ENST00000681531.1	protein_coding		144		chr1	TogoVar
HMGN1_chr21_39337315_39354088	39337374	A A	ATATATAT others(204): Show ATATATATAATATATATATATATATAATATATTATATATATTATATATAT ATTAATATAATATATTATATATAAATATATATATAATATATATATTAATA TATATATTATATATAATATATATATTATATATATAATATATATATTAATA TATATAATATATATAAATATATATAATATATATAATATATATATTATATA TATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	373	0.0027	211	c.57 others(222): Show c.5737_*5738insATATATATTATATATATAATATATATATTATATA TATTATATATATTTATATATATTATATATATTAATATATATATTATATAT ATAATATATATATTATATATAATATATATATTAATATATATATTATATAT ATATTTATATATAATATATTATATTAATATATATATAATATATATAATAT ATTATATATATATATATATTATATATA	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4940		chr21	TogoVar
HS3ST2_chr16_22809162_22921338	22819161	T T	TTCCTTCC others(204): Show TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTT CCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCATTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp2 HG01516.hp2 others(20): Show HG00609.hp2 HG00639.hp2 HG01516.hp2 HG01517.hp2 HG03239.hp1 HG03710.hp2 NA18612.hp1 NA18947.hp1 NA18947.hp2 NA18961.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA19005.hp1 NA19054.hp2 NA19056.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0002t0001 a0002c0007t0001 a0001c0001t0001 a0001c0002t0001 a0002c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0223 a0001c0001t0001g0224 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0312 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0308 a0001c0002t0001g0309 a0002c0007t0001g0231 a0002c0007t0001g0232	23	322	0.0714	211	c.485 others(228): Show c.485+4077_485+4078insTTCATTCCTTCCTTCCTTCCTTCCTTCC CTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTC ATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCT TCCTTCCCTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HTR2C_chrX_114579086_114915061	114761990	C C	CATATATG others(204): Show CATATATGTGTATATATACGTGTATATATACATATATGTGTATATATACG TGTATATATACATATATGTGTATATATACGTGTATATATACATATATGTG TATATATACGTGTATATATACATATATGTGTATATATACGTGTATATATA CATATATGTGTATATATACGTGTATATATACGTGTATATATACATATGTG TATATATACGTG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	54	0.0185	211	c.349 others(230): Show c.349+30383_349+30384insATATATGTGTATATATACGTGTATAT ATACATATATGTGTATATATACGTGTATATATACATATATGTGTATATAT ACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATAT GTGTATATATACGTGTATATATACATATATGTGTATATATACGTGTATAT ATACGTGTATATATACATATGTGTATATATACGTG	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5			chrX	TogoVar
IZUMO3_chr9_24537952_24550897	24546511	T T	TCTTTTCT others(204): Show TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 NA18982.hp2 NA19003.hp1 others(2): Show HG01515.hp2 NA18982.hp2 NA19003.hp1 NA19004.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0011 a0001c0001t0002g0022 a0001c0001t0002g0023 others(2): Show a0001c0001t0002g0011 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0002t0002g0008 a0001c0002t0002g0016	5	326	0.0153	211	c.-86 others(220): Show c.-863_-862insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		615		chr9	TogoVar
JPH2_chr20_44101590_44192188	44134467	T T	TATAAATA others(204): Show TATAAATATATATTTATTATATATATATATAATATATATAATATATATTT ATTAATATATAATAAATATATATTTATAATATATATAAATAAATATATAT TTATAATAAATAAATATAAATATATATTTATTTATATAAATAAATATATA TTTATTTATATAAATAAATATATATTTATTATATATAAATAAATATATAT TTATTTATATAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(32): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00733.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01175.hp2 HG01255.hp1 HG01358.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02071.hp2 HG02132.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02738.hp2 HG03486.hp2 HG03490.hp1 HG03654.hp2 HG03688.hp1 HG03942.hp1 NA18747.hp2 NA18906.hp1 NA18946.hp2 NA18952.hp1 NA18954.hp2 NA18962.hp2 NA19054.hp1 NA19057.hp2 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0005 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0036 a0001c0001t0037 a0001c0001t0048 a0001c0001t0049 a0001c0001t0073 a0001c0001t0094 a0001c0001t0095 a0001c0003t0001 a0001c0003t0002 a0001c0004t0035 a0001c0004t0055 a0002c0005t0004 a0004c0013t0003	a0001c0001t0001g0267 a0001c0001t0001g0279 a0001c0001t0001g0280 others(31): Show a0001c0001t0001g0267 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0063 a0001c0001t0002g0073 a0001c0001t0003g0071 a0001c0001t0007g0298 a0001c0001t0009g0111 a0001c0001t0009g0129 a0001c0001t0012g0151 a0001c0001t0012g0165 a0001c0001t0036g0113 a0001c0001t0037g0278 a0001c0001t0048g0093 a0001c0001t0049g0077 a0001c0001t0073g0167 a0001c0001t0094g0244 a0001c0001t0095g0288 a0001c0003t0001g0002 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0200 a0001c0003t0001g0203 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0002g0014 a0001c0004t0035g0069 a0001c0004t0055g0094 a0002c0005t0004g0205 a0004c0013t0003g0068	35	289	0.1211	211	c.117 others(232): Show c.1170-15845_1170-15844insTTATATAAATAAATATATATTTAT TTATATATAATAAATATATATTTATTTATATAAATAAATATATATTTATT TATATAAATAAATATATATTTATATTTATTTATTATAAATATATATTTAT TTATATATATTATAAATATATATTTATTATATATTAATAAATATATATTA TATATATTATATATATATATAATAAATATATATTTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KHSRP_chr19_6408102_6429811	6429100	T T	TATATATA others(204): Show TATATATAATATATATATTATATATATGTTATATATATATATAATATATA TATTATATATATGTTACATATATATAATATATATATTATATATATGTTAT ATATATATATAATATATATATTATATATATGTTACATATATATAATATAT ATATTATATATATGTTATATATATATTACATATATATAATATATATATTA TATATATGTTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 NA19091.hp2 HG00673.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0056 a0001c0001t0005g0008 a0001c0001t0005g0056	2	277	0.0072	211	c.-44 others(222): Show c.-4400_-4399insGTAACATATATATAATATATATATTATATATATG TAATATATATATAACATATATATAATATATATATTATATATATGTAACAT ATATATAATATATATATTATATATATATATAACATATATATAATATATAT ATTATATATATGTAACATATATATAATATATATATTATATATATATATAA CATATATATAATATATATATTATATAT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4290		chr19	TogoVar
KLK7_chr19_50971468_50988917	50975235	G G	GGGGGGAG others(204): Show GGGGGGAGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGCGGGGGGG AGCGGTCTGAACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGAGTCTGG ACTCCTGGGTCTGAGGAAGGAGGGGCTGGGGGCGGTCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGCGGGGGGGGGGTCTGAACTCCTGGGTCTGAG GGAGGAGGGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG03225.hp1 HG02723.hp2 HG03225.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0001 a0004c0011t0001 a0001c0001t0001 a0004c0011t0001	a0001c0001t0001g0066 a0004c0011t0001g0161 a0001c0001t0001g0066 a0004c0011t0001g0161	2	369	0.0054	211	c.23 others(222): Show c.2300_*2301insAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGACC CCCCCCCCGCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCGCCCC CAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGACTCCCCCCAGCCCCTCC TCCCTCAGACCCAGGAGTTCAGACCGCTCCCCCCCGCCAGCCCCTCCTCC CTCAGACCCAGGAATCCAGACTCCCCC	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding		1232		chr19	TogoVar
KSR2_chr12_117448012_117973990	117947205	A A	AAAGAAAG others(204): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0141 a0001c0003t0006g0141	1	125	0.0080	211	c.180 others(230): Show c.180+20870_180+20871insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	1/19			chr12	TogoVar
LMF1_chr16_848634_975984	858776	C C	CAGTGGTG others(204): Show CAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCCCGGGACGGGTGTGCAGTGT TGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTC ACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGGTGTGCAGTGGTGTCTC GGGACGGGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01517.hp1 HG00099.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0249 a0001c0001t0001g0250	2	288	0.0069	211	c.153 others(230): Show c.1530-4071_1530-4070insCACACCCGTCCCGAGACACCACTGCA CACCCCTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGTGACAACACTGCACACCCG TCCCGGGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GTGACACCACTGCACACCCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	955150	C C	CGTGCCTG others(204): Show CGTGCCTGCTGCAGACGTGGTGTGTGTATACACACACACACATCTAAGTA AACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGTAGTGTGTGC ATCCACACACACACATCTAAGTAAACTAGACACGTTACATAAAATGCGTG CCCGCAGCAGACGCAGTGTGTGCAAACACATCTAAGTGAACCAGACACGT TACATAAAATGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02451.hp2 HG02622.hp2 others(2): Show HG00738.hp2 HG02451.hp2 HG02622.hp2 HG03225.hp2 NA18522.hp2	a0001 a0001	a0001c0012 a0001c0020 a0001c0012 a0001c0020	a0001c0012t0001 a0001c0020t0001 a0001c0012t0001 a0001c0020t0001	a0001c0012t0001g0098 a0001c0012t0001g0099 a0001c0012t0001g0101 others(2): Show a0001c0012t0001g0098 a0001c0012t0001g0099 a0001c0012t0001g0101 a0001c0020t0001g0097 a0001c0020t0001g0100	5	219	0.0228	211	c.194 others(226): Show c.194-485_194-484insCCATTTTATGTAACGTGTCTGGTTCACTTA GATGTGTTTGCACACACTGCGTCTGCTGCGGGCACGCATTTTATGTAACG TGTCTAGTTTACTTAGATGTGTGTGTGTGGATGCACACACTACGTCTGCT GCAGGCACGCATTTTATGTAACGTGTCTGGTTTACTTAGATGTGTGTGTG TGTATACACACACCACGTCTGCAGCAGGCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LRRC74A_chr14_76821408_76875304	76867188	A A	AGTGTGTG others(204): Show AGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGG GGTGTGTGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGGGGGGTGTGTG TTGGGGGGATGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTT GGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGT GTGTGTGTGGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	239	0.0042	211	c.130 others(228): Show c.1309-117_1309-116insTGTGTGGGTGTGTTGGGGGGTGGGGTGT GTGTGTGTGGGGGGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGTG TGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGG GTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGT GGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
LYPD8_chr1_248734415_248760759	248742156	T T	TCTCTGGT others(204): Show TCTCTGGTGGGGATGTTGGCAGCGGGGAGATTATGCTCTGGTGGGGATGT TGGCAGCGGGGGAGATTACGCTCTGGTGGGGATGTTGGCAGCCGGGGGAG GTTACGCTCTGGTGGGGATGTTGGCAGCGGGGGAGATTATGCTCTGGTGG GGATGTTGGCAGTCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCC GGGGAGGTTATG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	372	0.0027	211	c.476 others(228): Show c.476-2518_476-2308dupCATAACCTCCCCGGCTGCCAACATCCCC ACCAGAGCATAATCTCCCCCGACTGCCAACATCCCCACCAGAGCATAATC TCCCCCGCTGCCAACATCCCCACCAGAGCGTAACCTCCCCCGGCTGCCAA CATCCCCACCAGAGCGTAATCTCCCCCGCTGCCAACATCCCCACCAGAGC ATAATCTCCCCGCTGCCAACATCCCCACCAGAG	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MAGI3_chr1_113385515_113690923	113416284	T T	TATTAATT others(204): Show TATTAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACA TATTAATTATGTAATTAATGACACATATTATTATGTAATTAATGACACAT ATTATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATA TTATTATGTGTAATTAATGACACATATTAATTATGTAATTAATGACACAT ATTAATTATGTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	148	0.0068	211	c.316 others(230): Show c.316+24953_316+24954insGACACATATTAATTATGTAATTAATG ACACATATTAATTATGTAATTAATGACACATATTATTATGTAATTAATGA CACATATTATTATGTAATTAATGACACATATTAATTATGTAATTAATGAC ACATATTATTATGTGTAATTAATGACACATATTAATTATGTAATTAATGA CACATATTAATTATGTAATTAATTATGTAATTAAT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP2K2_chr19_4085321_4129122	4122157	C C	CACCCTCC others(204): Show CACCCTCCCACCCCCATCTCTCCCCCATAGGAACCCTCCCACCCCATCTC TCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCACAGGGACCCTCCC ACCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCACAG GGACCCCCTCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTC TCCCCCATAGGG	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	328	0.0030	211	c.92+ others(226): Show c.92+1626_92+1627insCCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGAGGGGGTCCCTGTGGGGGAGAGATGGG GTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGGGAGGGTCCCTGTGGGG GAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGT TCCTATGGGGGAGAGATGGGGGTGGGAGGGT	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122187	A A	AACCCTCC others(204): Show AACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCT CCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCA CCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCACAGG GACCCCCCTCACCCCATCTCTCCCCCACAGGGACCCTCCCACCCCATCTC TCCCCCATAGGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03927.hp1 HG02976.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0078 a0001c0001t0001g0079	2	120	0.0167	211	c.92+ others(226): Show c.92+1596_92+1597insCCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTGTGGGGGAGAGATGGGGTGAGGGGGGTCCCTGTGGGGGAGAGATGG GGTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGG GGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGG TCCCTATGGGGGAGAGATGGGGTGGGAGGGT	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122187	A A	AACCCTCC others(204): Show AACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATGTCT CCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCA CCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCACAGG GACCCCCCTCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTC TCCCCCATAGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0285 a0001c0002t0007g0285	1	119	0.0084	211	c.92+ others(226): Show c.92+1596_92+1597insCCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGAGGGGGGTCCCTGTGGGGGAGAGATGG GGTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGG GGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGACATGGGGTGGGAGGG TCCCTATGGGGGAGAGATGGGGTGGGAGGGT	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122247	G G	GACCCTCC others(204): Show GACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCCTCACCCCATCTC TCCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCATAGGGACCCTCCC ACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAG GGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTC TCCCCCATAGGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01433.hp2 NA18965.hp1 others(2): Show HG00438.hp2 HG01433.hp2 NA18965.hp1 NA18977.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0114 others(2): Show a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0114 a0001c0001t0002g0112 a0001c0001t0002g0113	5	240	0.0208	211	c.92+ others(226): Show c.92+1536_92+1537insTCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGG GTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGG GAGAGATGGGGTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGAGGGGGG TCCCTGTGGGGGAGAGATGGGGTGGGAGGGT	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122247	G G	GACCCTCC others(204): Show GACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCT CCCCCACAGGGACCCCCCTCACCCCATCTCTCCCCCATAGGGACCCTCCC ACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAG GGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTC TCCCCCATAGGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02148.hp2 HG03942.hp2 others(1): Show HG01192.hp2 HG02148.hp2 HG03942.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0109 a0001c0001t0002g0110 others(1): Show a0001c0001t0002g0060 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111	4	239	0.0167	211	c.92+ others(226): Show c.92+1536_92+1537insTCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGG GTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGG GAGAGATGGGGTGAGGGGGGTCCCTGTGGGGGAGAGATGGGGTGAGGGGG TCCCTGTGGGGGAGAGATGGGGTGGGAGGGT	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar

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