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
MAP3K15_chrX_19355059_19520508	19478104	G G	GAGAGAGG others(430): Show GAGAGAGGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGGAGGGGGGAGAG GGGGGAGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGGGGGGGAGAGGG GGGAGGGGGGAGGGGGGAGAGGGGGGGGGAGGGGGGGAGGGGGGGGAGGG GGGAGGGGGGGGAGAGGGGGGGGGGAGGGGGGGGGAGGGGGAGAGGGGGG AGGGGAGGGGGGGAGAGGGGGGGGAGGGGGGAGGGGGAGAGGGGGGGAGG GGGGAGGGGGGGAGGGGGGGAGGGGGGGAGGGGGGAGGGGGGAGTGGGGG GAGGGGGGGAGGGGGGGAGGGGGGAGGGGGGGAGAGGGGGGAGGGGGTGA GGGGGGAGGGGGGAGGAGGGGGGGAGGGGGGGGGAGGGGGGGAGGGGGTG AGGGGGGAGGGGGGGGGGGGGAGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0162 a0002c0002t0021g0162	1	163	0.0061	437	c.525 others(454): Show c.525+8377_525+8378insTCCCCCCTCCCCCCCCTCCCCCCCCCCC CCTCCCCCCTCACCCCCTCCCCCCCTCCCCCCCCCTCCCCCCCTCCTCCC CCCTCCCCCCTCACCCCCTCCCCCCTCTCCCCCCCTCCCCCCTCCCCCCC TCCCCCCCTCCCCCCACTCCCCCCTCCCCCCTCCCCCCCTCCCCCCCTCC CCCCCTCCCCCCTCCCCCCCTCTCCCCCTCCCCCCTCCCCCCCCTCTCCC CCCCTCCCCTCCCCCCTCTCCCCCTCCCCCCCCCTCCCCCCCCCCTCTCC CCCCCCTCCCCCCTCCCCCCCCTCCCCCCCTCCCCCCCCCTCTCCCCCCT CCCCCCTCCCCCCTCTCCCCCCCTCCCCCCTCCCCCCCTCTCCCCCCTCC CCCCTCCCCCCTCTCCCCCCTCCCCCCCTCCCCCCCTCTCCCCCCTCCCC CCCCTCTCT	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(430): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01433.hp2 NA18967.hp1 HG01256.hp1 HG01433.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0113 a0001c0001t0002g0058 a0001c0001t0001g0113 a0001c0001t0002g0058	3	390	0.0077	437	c.112 others(454): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT ATATATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(430): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01123.hp1 HG01081.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	2	390	0.0051	437	c.112 others(454): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAT ATATATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(430): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	390	0.0026	437	c.112 others(454): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATAT ATATATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(430): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	390	0.0026	437	c.112 others(454): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	ATAGGCAG others(430): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0215 a0001c0001t0004g0215	1	390	0.0026	437	c.112 others(454): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATA TATATATAT	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7			chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	ATAGGCAG others(430): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	390	0.0026	437	c.112 others(454): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATA TATATATAT	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7			chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735557	A A	ATAGGCAG others(430): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02083.hp2 HG01952.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	2	390	0.0051	437	c.112 others(454): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AATATATAT	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7			chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735557	A A	ATAGGCAG others(430): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	390	0.0026	437	c.112 others(454): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA TATATATAT	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7			chr1	TogoVar
MIER2_chr19_300573_349796	310636	A A	AACACAGC others(430): Show AACACAGCCCGGAGCTATAGAAACACGGCCGGGAGCTGCAGAAACACAGC CGGGAGCTATAGAAACATAGCCCCGGAGCTATAGAAACACAGCCCGGAGC TATAGAAACGGCCCAGAGTCCAGAAACACAGCCCGGAGCTATAGAAACAC GGCCGGGAGCTGTAGAAACACGGCCCGGAGCTGTAGAAACACGGCCCGGA GCTATAGGAACATGGCCCGGAGCTATAGAAACACAGCCCAGAGTCCAGAA ACACAGCCCGAAGCTCCAGAAACACAGCCCAGAGCTATAGAAACACGGCC CGGAGCTATAGAAACGGCCCAGAGTCCAGAAACACAGCCCGGAGCTGTAG AAACACGGCCCGGAGCTGCAGAAACACGGCCCGGAGCTGTAGAAACACGG CCCGGAGCTGTAGAAACACGGCCCGGAGCTGTAGAAAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02896.hp2 HG02965.hp1 others(3): Show HG02258.hp1 HG02896.hp2 HG02965.hp1 HG03453.hp2 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0004 a0001c0021t0014 a0001c0001t0004 a0001c0021t0014	a0001c0001t0004g0061 a0001c0001t0004g0072 a0001c0001t0004g0235 others(3): Show a0001c0001t0004g0061 a0001c0001t0004g0072 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0021t0014g0088	6	384	0.0156	437	c.984 others(454): Show c.984+1208_984+1209insGTTTCTACAGCTCCGGGCCGTGTTTCTA CAGCTCCGGGCCGTGTTTCTACAGCTCCGGGCCGTGTTTCTGCAGCTCCG GGCCGTGTTTCTACAGCTCCGGGCTGTGTTTCTGGACTCTGGGCCGTTTC TATAGCTCCGGGCCGTGTTTCTATAGCTCTGGGCTGTGTTTCTGGAGCTT CGGGCTGTGTTTCTGGACTCTGGGCTGTGTTTCTATAGCTCCGGGCCATG TTCCTATAGCTCCGGGCCGTGTTTCTACAGCTCCGGGCCGTGTTTCTACA GCTCCCGGCCGTGTTTCTATAGCTCCGGGCTGTGTTTCTGGACTCTGGGC CGTTTCTATAGCTCCGGGCTGTGTTTCTATAGCTCCGGGGCTATGTTTCT ATAGCTCCCGGCTGTGTTTCTGCAGCTCCCGGCCGTGTTTCTATAGCTCC GGGCTGTGT	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(430): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01433.hp1 NA18967.hp1 HG01256.hp1 HG01433.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0002g0002	3	364	0.0082	437	c.18 others(448): Show c.1842_*1843insATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAG CACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCC CAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCAC CAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCC AAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGC AGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCAC CTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCC TAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(430): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01123.hp2 HG01081.hp1 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	364	0.0055	437	c.18 others(448): Show c.1842_*1843insATATATATATATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAG CACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCC CAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCAC CAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCC AAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGC AGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCAC CTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCC TAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(430): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	437	c.18 others(448): Show c.1842_*1843insATATATATATATATTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAG CACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCC CAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCAC CAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCC AAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGC AGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCAC CTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCC TAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(430): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	437	c.18 others(448): Show c.1842_*1843insATATATATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAG CACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCC CAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCAC CAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCC AAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGC AGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCAC CTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCC TAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	ATAGGCAG others(430): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	437	c.18 others(448): Show c.1842_*1843insATATATATATATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTA GCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGC CCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCA CCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCC CAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAG CAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCA CCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGC CTA	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735557	A A	ATAGGCAG others(430): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG02083.hp2 HG01952.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	364	0.0055	437	c.18 others(448): Show c.1840_*1841insATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTA GCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGC CCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCA CCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCC CAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAG CAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCA CCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGC CTA	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1745		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735557	A A	ATAGGCAG others(430): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	364	0.0028	437	c.18 others(448): Show c.1840_*1841insATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTA GCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGC CCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCA CCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCC CAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAG CAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCA CCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGC CTA	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1745		chr1	TogoVar
MSH4_chr1_75791882_75918242	75906482	T T	TATACAAT others(430): Show TATACAATATTATATATATTATATATAATATATATACATATTATATATAT TATATATATACATATATATGTATATATACATATATAATATGTATATATGT ATATATATGTATAATATATATATTGTATATATATATTATACATATGTATA TATATATTATACATATATATATGTATAATATATATAATGTATATATATAC ATATTATATATTATATATAATATATACATATATATTATATATAATATATA CATATTATATATTATATATATAATATATATACATATTATATTATATATAA TATATATACATATTACATACATTATATATAATATATATACATATATAATA TATTATATATTATATATTATATATAATATATAATATATTATATATTATAT ATAATATATAATATATTATATATTATATATAATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03540.hp1 HG02897.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0034 a0001c0002t0001g0036	2	332	0.0060	437	c.262 others(456): Show c.2620-6213_2620-6212insTACAATATTATATATATTATATATAA TATATATACATATTATATATATTATATATATACATATATATGTATATATA CATATATAATATGTATATATGTATATATATGTATAATATATATATTGTAT ATATATATTATACATATGTATATATATATTATACATATATATATGTATAA TATATATAATGTATATATATACATATTATATATTATATATAATATATACA TATATATTATATATAATATATACATATTATATATTATATATATAATATAT ATACATATTATATTATATATAATATATATACATATTACATACATTATATA TAATATATATACATATATAATATATTATATATTATATATTATATATAATA TATAATATATTATATATTATATATAATATATAATATATTATATATTATAT ATAATATATAA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSR1_chr8_16102881_16197651	16189541	T T	TTATATAT others(430): Show TTATATATATAAAATCTTATTTTATATATTATATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATA TATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTT ATTTTATATATATTTTATATATATAAAATCTTATTTTA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0051 a0001c0001t0007g0051	1	330	0.0030	437	c.-5+ others(452): Show c.-5+3056_-5+3057insTAAAATAAGATTTTATATATATAAAATATA TATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTAT ATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATA AAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATAT ATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAAT AAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAA AATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGA TTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATA TATATAAAATAAGATTTTATATATATATAATATATAAAATAAGATTTTAT ATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTSS1_chr8_124545784_124733473	124605611	G G	GCACTGCC others(430): Show GCACTGCCTCCCTCCCTGCCCTCGCGCTGCCTCCCTCCCTGCCCTCTCGC TGCCTCCCTCCCTGCCCTCGCGCTGCCTCCCTCCCTGCCCTCTCGCTGCC TCCCTCCCTGCCCTCTCGCTGCCTCCCTCCCTGCCCTCGCACTGCCTCCC TCCCTGCCCTCTCGCTGCCTCCCTCCCTGCCCTCGCGCTGCCTCCCTCCC TGCCCTCTCGCTGCCTCCCTCCCTGCCCTCGCACTGCCTCCCTCCCTGCC CTCGCGCTGCCTCCCTCCCTGCCCTCTCGCTGCCTCCCTCCCTGCCCTCG CGCTGCCTCCCTCCCTGCCCTCTCGCTGCCTCCCTCCCTGCCCTCGCACT GCCTCCCTCCCTGCCCTCGCGCTGCCTCCCTCCCTGCCCTCTCGCTGCCT CCCTCCCTGCCCTCGCGCTGCCTCCCTCCCTGCCCTCT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	286	0.0035	437	c.209 others(456): Show c.209-14377_209-14376insAGAGGGCAGGGAGGGAGGCAGCGCGA GGGCAGGGAGGGAGGCAGCGAGAGGGCAGGGAGGGAGGCAGCGCGAGGGC AGGGAGGGAGGCAGTGCGAGGGCAGGGAGGGAGGCAGCGAGAGGGCAGGG AGGGAGGCAGCGCGAGGGCAGGGAGGGAGGCAGCGAGAGGGCAGGGAGGG AGGCAGCGCGAGGGCAGGGAGGGAGGCAGTGCGAGGGCAGGGAGGGAGGC AGCGAGAGGGCAGGGAGGGAGGCAGCGCGAGGGCAGGGAGGGAGGCAGCG AGAGGGCAGGGAGGGAGGCAGTGCGAGGGCAGGGAGGGAGGCAGCGAGAG GGCAGGGAGGGAGGCAGCGAGAGGGCAGGGAGGGAGGCAGCGCGAGGGCA GGGAGGGAGGCAGCGAGAGGGCAGGGAGGGAGGCAGCGCGAGGGCAGGGA GGGAGGCAGTG	MTSS1	ENSG00000170873.19	transcript	ENST00000518547.6	protein_coding	3/13			chr8	TogoVar
MYL2_chr12_110905845_110925579	110905919	A A	ATATAATA others(430): Show ATATAATATATATTATATATAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATATAATATATATTA TATAAAATATATATTATATTATATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTTTATAAAATATATATTATATTATATATAA TATATATTTTATAAAATATATATTATATTATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATAATATATATTATATAAAATATATATTATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	368	0.0027	437	c.51 others(448): Show c.5157_*5158insATAATATAATATATATTTTATATAATATATATTA TATAATATAATATATATTTTATATAATATATATTATATATAATATAATAT ATATTTTATATAATATATATTATATAATATAATATATATTTTATAAAATA TATATTATATATAATATAATATATATTTTATAAAATATATATTATATAAT ATAATATATATTTTATATAATATATATTATATATAATATAATATATATTT TATATAATATATATTATATATAATATAATATATATTTTATATAATATATA TTATATATAATATAATATATATTTTATATAATATATATTATATATAATAT AATATATATTTTATATAATATATATTATATATAATATAATATATATTTTA TATAATATATATTATATATAATATAATATATATTATATATAATATATATT ATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4925		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905919	A A	ATATAATA others(430): Show ATATAATATATATTATATATAATATATATTATATTATATATAATATATAT TATATATAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATATAATATATATTA TATAAAATATATATTATATTATATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTATATAAAATATATATTATATTATATATAA TATATATTTTATAAAATATATATTATATTATATAATATATATTTTATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATAATATATATTATATAAAATATATATTATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 NA19005.hp2 HG02165.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	368	0.0054	437	c.51 others(448): Show c.5157_*5158insATAATATAATATATATTTTATATAATATATATTA TATAATATAATATATATTTTATATAATATATATTATATATAATATAATAT ATATTTTATAAAATATATATTATATAATATAATATATATTTTATAAAATA TATATTATATATAATATAATATATATTTTATATAATATATATTATATAAT ATAATATATATTTTATATAATATATATTATATATAATATAATATATATTT TATATAATATATATTATATATAATATAATATATATTTTATATAATATATA TTATATATAATATAATATATATTTTATATAATATATATTATATATAATAT AATATATATTTTATATAATATATATTATATATAATATAATATATATTATA TATAATATATATTATATATAATATAATATATATTATATATAATATATATT ATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4925		chr12	TogoVar
NCAPG2_chr7_158626169_158709804	158667549	C C	CTCTTACC others(430): Show CTCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCC CTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTA CTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCT TACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCC GCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCC ACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCC TCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCC CTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0333 a0003c0006t0001g0333	1	378	0.0027	437	c.148 others(456): Show c.1480-2800_1480-2799insCGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTG GGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACC CAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGC GGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGT AGTGGGTAAGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(430): Show CTGTATATATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTAC AGCATGTATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACTGTGTATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATA CTGTATACATACTGCATGCAGTATGTATACTGTATATATACACTATACAG TATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACA CTATACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATAT ATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	362	0.0028	437	c.-75 others(456): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATAT ACAGTATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCA GTATGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACATAC TGCATACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTA TATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATA TATACGGTATACATACATACAGTATACATACATACAGTATACATACATAC AGTATACATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGT ACATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHLRC4_chr16_562005_574495	571084	T T	TGTGTGTG others(430): Show TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTG TGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTG TGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTG CCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTA GCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGGCTAGCCTTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	437	c.26 others(448): Show c.2665_*2666insGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGT GTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAG CCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCC GTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCC TGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGG CTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGT GTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCG CCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1590		chr16	TogoVar
NPEPPS_chr17_47526108_47628276	47574051	T T	TAGAAAAT others(430): Show TAGAAAATATTTAGAACTGGATTAAGAAAATGTGGCACATATACACCATG GAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGAC ATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAA AAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGA TCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGG TCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATG ACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAA CTAACCTGCACAATGTGCACATGTACCCTGAAACTTAGAGTATAATAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	342	0.0029	437	c.418 others(454): Show c.418+4575_418+4576insGATTAAGAAAATGTGGCACATATACACC ATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTG GGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAG ATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAATGTGCACATGTACCCTGAAACTTAGAGTATAATA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATAT TTAGAACTG	NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(430): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGA GGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGGAAGGGAGGGGGAGGGGAAAGGGGGAAGGGAGA AGGGGGAGGGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGG GGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGG GGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAG GGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0104 a0001c0001t0008g0104	1	344	0.0029	437	c.154 others(454): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCC CCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTTCTCCCTC CCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCC CTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCC CTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(430): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGA AAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGGAAGGGAGGGGGAGGGGAAAGGGGGAAGGGAGA AGGGGGAGGGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGG GGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGG GGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAG GGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0148 a0001c0001t0027g0148	1	344	0.0029	437	c.154 others(454): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCC CCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCAT CCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCC CTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGGAGG others(430): Show GGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGAGAGGGA GGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGAGG GAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGA GAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAGGGAGGG AGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGG AGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGG AGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGG GGAGGGAGAAGGAGAGGGAGAGGGGGGAGGGAGAGGGGGAGAGAGGGAGA GGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	386	0.0026	437	c.92 others(448): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCCTCCCCCCTCTCCCTCTCCTTCTCC CTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCT CCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCT CCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCTTCTCTCC CTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTCCCCTCCCACCCCCTC CCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCC TCTCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTC TCCCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTC CCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
P2RY8_chrX_1457581_1542185	1514627	T T	TCCCTTCC others(430): Show TCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTCCCCTTCCTCCCCT CCTTTCCCTTCCCTTCCCTTCCTTTCCTTCCCTTCCTTCCCTTCCCTTCC CTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCCTTC CTTCCCTTCCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTCC CCTCCTTTCCCTTCCCTTCCCTTCCCTTCCTTCCCTTCCTTCCCTTCCCT TCCTTCCCTTCCCTTCCCTTCCTTCCCTTCCTTCCCTTCCCTTCCTTCCC TTCCTTCCCTTCCCTTCCCTTCCTTCCCTTCCTTCCCTTCCCTTCCCTTC CTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTCCC CTCCTTTCCCTTCCCTTCCCTTCCCTTCCTTCCCTTCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0018 a0001c0001t0006g0018	1	114	0.0088	437	c.-25 others(456): Show c.-25+22293_-25+22294insGGAAGGGAAGGAAGGGAAGGGAAGGG AAGGGAAAGGAGGGGAGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGG AAGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGAAGGGAAGGAAGGGAAGG GAAGGGAAGGAAGGGAAGGAAGGGAAGGGAAGGAAGGGAAGGAAGGGAAG GGAAGGGAAGGAAGGGAAGGGAAGGAAGGGAAGGAAGGGAAGGGAAGGGA AGGGAAAGGAGGGGAGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGGA AGGGAAGGGAAGGAAGGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGG AAGGAAGGGAAGGGAAGGGAAGGGAAGGAAGGGAAGGAAAGGAAGGGAAG GGAAGGGAAAGGAGGGGAGGAAGGGGAGGAAGGGAAGGAAGGGAAGGAAG GGAAGGAAGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PARP10_chr8_143972158_143991460	143981349	A A	ATGGTGAT others(430): Show ATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGA TGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGAC GACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGT GGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTG GTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGG TGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGAC AGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGT GAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTG GTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03239.hp2 HG01099.hp1 HG03239.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0072 a0003c0003t0001g0073 a0003c0003t0001g0072 a0003c0003t0001g0073	2	380	0.0053	437	c.255 others(456): Show c.2556+1582_2556+1583insCCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATC ACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCACCT TCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCA CTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTGTCGTCAC CACCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACC ATCACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCACCTTCA CCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTG TCGTCACCACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCAC CATCATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(430): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACC TCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCAATC CTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAT CCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCC CCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGC ACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCT GCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCAC CCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	360	0.0028	437	c.36 others(448): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCACCCTGCACCTCC CCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCT GCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACC CTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCAC TCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTC CCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCA TCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTT CATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACC CTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(430): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCAAT CCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCA TCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTC CCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGC ACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCT GCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCAC CCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	360	0.0028	437	c.36 others(448): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCC TGCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAAC CCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCA CTCACCCTCCACCTCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTC CCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCA TCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTT CATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACC CTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGACA others(430): Show CAAAGACAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAA AAGAAAAGAAAAAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0175 a0002c0002t0001g0175	1	342	0.0029	437	c.20- others(452): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTTTTT CTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTC TGTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PERM1_chr1_970198_987093	976810	G G	GCAACCCC others(430): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCACCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	408	0.0025	437	c.215 others(454): Show c.2150-187_2150-186insTGGCGGGGGCAGGCGGTTCCCGGGGTTG GTGGGGGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCG GTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGG GGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGT GGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGT TGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGTGGGAGTGGGAGG CGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTCG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	976810	G G	GCAACCCC others(430): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00597.hp2 others(60): Show HG00408.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01261.hp2 HG01496.hp1 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02148.hp2 HG02165.hp1 HG02735.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18990.hp1 NA18990.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19059.hp2 NA19064.hp2 NA19070.hp2 NA19078.hp2 NA19083.hp2 NA19091.hp1	a0001 a0007 a0020 others(1): Show a0001 a0007 a0020 a0021	a0001c0001 a0001c0007 a0007c0010 others(2): Show a0001c0001 a0001c0007 a0007c0010 a0020c0038 a0021c0035	a0001c0001t0001 a0001c0001t0006 a0001c0007t0001 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0007t0001 a0007c0010t0001 a0020c0038t0001 a0021c0035t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0031 others(30): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0006g0044 a0001c0001t0006g0206 a0001c0001t0006g0207 a0001c0007t0001g0093 a0007c0010t0001g0027 a0007c0010t0001g0094 a0007c0010t0001g0095 a0020c0038t0001g0203 a0021c0035t0001g0189	63	408	0.1544	437	c.215 others(454): Show c.2150-187_2150-186insTGGCGGGGGCAGGCGGTTCCCGGGGTTG GTGGGGGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCG GTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGG GGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGT GGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGT TGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTCG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	976810	G G	GCAACCCC others(430): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACTCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	408	0.0025	437	c.215 others(454): Show c.2150-187_2150-186insTGGCGGGGGCAGGCGGTTCCCGGGGTTG GTGGGGGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCG GTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGAGTTGGTGGG GGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGT GGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGT TGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTCG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977160	C C	CCAACCCC others(430): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCAC CAACCCCGGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0085 a0006c0008t0001g0085	1	408	0.0025	437	c.215 others(454): Show c.2150-537_2150-536insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGGAGTGGGAGGCGGTT CCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGA GTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGG GTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCG GGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTC CCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PIGQ_chr16_564968_589109	571084	T T	TGTGTGTG others(430): Show TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTG TGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTG TGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTG CCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTA GCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGGCTAGCCTTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0091 a0002c0001t0001g0091	1	408	0.0025	437	c.-10 others(452): Show c.-10+996_-10+997insCTGGCTAGCCTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGT GTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTG GTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGG CTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGT GCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGGCTAG CCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCG TGTGTGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PKP3_chr11_389209_409908	401787	C C	CCCGCTCA others(430): Show CCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGACCCG CTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCAC CCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGG ACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCGAC CCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGC TCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCAC ACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCG GCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACACCCGCCC CGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCTCA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0003t0001g0101 a0001c0003t0001g0102	2	216	0.0093	437	c.173 others(456): Show c.1737+1084_1737+1085insGCTCACCCCCGACCCGCTCACCCCGG GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACACCCGACCC GCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCA CCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCCGCTCACAC CCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGA CCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCC GCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTC ACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCG GGACCCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGG CCCCGCTCACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHN1_chr1_961482_980865	976810	G G	GCAACCCC others(430): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCACCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	422	0.0024	437	c.22 others(448): Show c.2235_*2236insCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCACCGCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCG CCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		946		chr1	TogoVar
PLEKHN1_chr1_961482_980865	976810	G G	GCAACCCC others(430): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00597.hp2 others(54): Show HG00408.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01261.hp2 HG01496.hp2 HG01975.hp2 HG01981.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02735.hp2 HG03017.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18943.hp1 NA18950.hp1 NA18952.hp1 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18967.hp1 NA18971.hp1 NA18979.hp1 NA18979.hp2 NA18990.hp1 NA18990.hp2 NA19002.hp2 NA19004.hp2 NA19057.hp1 NA19064.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp1 NA19085.hp1 NA19085.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0007 a0001c0022 others(5): Show a0001c0001 a0001c0007 a0001c0022 a0002c0006 a0003c0003 a0003c0005 a0004c0004 a0004c0031	a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 others(8): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 a0001c0007t0001 a0001c0022t0008 a0001c0022t0017 a0002c0006t0001 a0003c0003t0001 a0003c0005t0001 a0004c0004t0001 a0004c0031t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0017 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0088 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0014g0001 a0001c0001t0016g0037 a0001c0007t0001g0001 a0001c0007t0001g0023 a0001c0007t0001g0055 a0001c0022t0008g0001 a0001c0022t0017g0001 a0002c0006t0001g0001 a0003c0003t0001g0001 a0003c0003t0001g0004 a0003c0003t0001g0151 a0003c0005t0001g0018 a0004c0004t0001g0106 a0004c0031t0001g0110	57	422	0.1351	437	c.22 others(448): Show c.2235_*2236insCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCG CCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		946		chr1	TogoVar
PLEKHN1_chr1_961482_980865	976810	G G	GCAACCCC others(430): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACTCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	437	c.22 others(448): Show c.2235_*2236insCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACTCCGGGAACCGCCTCC CACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCG CCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		946		chr1	TogoVar
PPP2R2D_chr10_131896008_131964834	131952846	G G	GTGACTTG others(430): Show GTGACTTGTGGGTGTGCGGGGGGTTCACTGTCTTAGTGACTTGTGGGTGT GCGGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTA GTGACTTGCGGGTGTGCGGGGGGTTCACTAGTGACTTGCGGGTGTGCGGG GGGGTTCATTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTGTCTT AGTGACTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGACTTGCGGGTG TGCGGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGGGTTCAC TTAGTGACTTGCGGGTGTGTGGGGGTTCACTGTCTTAGTGACTTGCGGGT GTGCGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTG TCTTAGTGACTTGCGGGTGTGCAGGGGGTTCACTGTCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02809.hp1 HG02109.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0049 a0001c0001t0024g0050 a0001c0001t0024g0049 a0001c0001t0024g0050	2	394	0.0051	437	c.108 others(456): Show c.1083-2838_1083-2837insTGACTTGTGGGTGTGCGGGGGGTTCA CTGTCTTAGTGACTTGTGGGTGTGCGGGGGGTTCACTGTCTTAGTGACTT GCGGGTGTGCGGGGGGTTCACTAGTGACTTGCGGGTGTGCGGGGGGTTCA CTAGTGACTTGCGGGTGTGCGGGGGGGTTCATTGTCTTAGTGACTTGCGG GTGTGCGGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTC ACTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGACT TGCGGGTGTGCGGGGGGGTTCACTTAGTGACTTGCGGGTGTGTGGGGGTT CACTGTCTTAGTGACTTGCGGGTGTGCGGGGTTCACTGTCTTAGTGACTT GCGGGTGTGCGGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCAGGGG GTTCACTGTCT	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8			chr10	TogoVar
PTDSS2_chr11_445279_496399	475224	T T	TGGCCATA others(430): Show TGGCCATATTCACGTGTTTGTGATACGGACATATTCACACGTTTGTGTGA TACGGCCATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGT GATGCGGACATATTCATGCGTTTGTGATACGGACATATTCACGCGTTTGT GTGATACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTT GTGTGTAGGACATATTCACGTGTTTGTGTGTATGGACATATTCACGCGTT TGTGATACAGACATTCACGCGTTTGTGTGTACAGACATATTCACGCATTT GTGTGATACAGATATATTCACGCATTTGTGATACGGCCATATTCACACGT TTGTGATACGGACATATTCACACGTTTGTGTGATACGGCCATATTCACGC GTTTGTGATACGGACATATTCACACGTTTGTGTGATGC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0080 a0001c0010t0002g0080	1	346	0.0029	437	c.367 others(454): Show c.367+1249_367+1250insCCATATTCACGTGTTTGTGATACGGACA TATTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGA CATATTCACACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGATACG GACATATTCACGCGTTTGTGTGATACGGCCATATTCACGCGTTTGTGTGA TACGGACATTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTGTGT ATGGACATATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGTGTA CAGACATATTCACGCATTTGTGTGATACAGATATATTCACGCATTTGTGA TACGGCCATATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGT GATACGGCCATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGT GTGATGCGG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PXT1_chr6_36385551_36447854	36429253	G G	GAGAGTGA others(430): Show GAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAGAAAAAAAAGAAAAAGA AAAAATTTATGCATATATATGTATACATATGCCAGAAAAACACTATGCTC TTTTATGTAACTGTTCGTATAACTGGATAATTACCAGGCCGGACGCAGTG GCTCACCCTTGTAAACCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCAA TTGAGGTCAGGAGTTCTAGACCAGCCTAGCCAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAAAGTAGCTGGGCGTGGTGGTGCATGCCTGTAAT CTCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAGCCTGAGAGGC AGAGGCTGATGCAGGAGAATAGCTTGAGCCTGAGAGGCAGAGGTTGCAGT GAGCCAAGACGGCACCACTGCACTCCAATCTGGGCAAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	390	0.0026	437	c.-9- others(452): Show c.-9-3163_-9-3162insGTTGCCCAGATTGGAGTGCAGTGGTGCCGT CTTGGCTCACTGCAACCTCTGCCTCTCAGGCTCAAGCTATTCTCCTGCAT CAGCCTCTGCCTCTCAGGCTCAAGCTATTCTCCTGCCTCAGCCTCCTGAG TAGCTGAGATTACAGGCATGCACCACCACGCCCAGCTACTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCATGTTGGCTAGGCTGGTCTAGAACTCCT GACCTCAATTGATCCACCCGCCTCTGCCTCCCAAAGTGCTGGGTTTACAA GGGTGAGCCACTGCGTCCGGCCTGGTAATTATCCAGTTATACGAACAGTT ACATAAAAGAGCATAGTGTTTTTCTGGCATATGTATACATATATATGCAT AAATTTTTTCTTTTTCTTTTTTTTCTTTTTTTTTTTTTTGAGACAGGGTC TCACTCT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	2/4			chr6	TogoVar
RAD21L1_chr20_1221044_1260876	1259631	G G	GTTTCCTT others(430): Show GTTTCCTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATATAAA CACATAAAGCTCTGCTTCTTGGTAACTGATTTGGTATCTTCCCTCTTTTC TAATATAAACACATAAAGCTCTGTTTCCTTCTTGGTAACTGGTTTGAGAT CTTCCCTCTTTTATAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTA ACTGATTTGGGATCATCCCTCTTTTCTAATAAACTGACCATCCTCGGTCA GGATCTTCCCTCCTAGGTAACTGCATTTTCGATCTCTCTAATAAACACAT ACAGCTCCTGGTTTCCTTCTAGGTAACTGATTTGGGATCTTCCCTCTTTT CTAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGA TCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0002 a0002c0003t0002g0002	1	364	0.0028	437	c.51 others(448): Show c.5174_*5175insTTTCCTTCTAGGTAACTGGTTTGAGATCTTCCCT CTTTTCTAATATAAACACATAAAGCTCTGCTTCTTGGTAACTGATTTGGT ATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTTGG TAACTGGTTTGAGATCTTCCCTCTTTTATAATATAAACACATAAAGCTCT GTTTCCTTCTAGGTAACTGATTTGGGATCATCCCTCTTTTCTAATAAACT GACCATCCTCGGTCAGGATCTTCCCTCCTAGGTAACTGCATTTTCGATCT CTCTAATAAACACATACAGCTCCTGGTTTCCTTCTAGGTAACTGATTTGG GATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTAG GTAACTGATTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTC TGT	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		3756		chr20	TogoVar
RGPD6_chr2_110508802_110582222	110576899	C C	CCGGCCGC others(430): Show CCGGCCGCCGCCGCCGCCGCCGTCGCCGCCCCCCGGCCGGGCCGAGGCCG CCGCCGCCGCCGCCCCCCGGCCGGGACGAGGCCGCCGCCGCCGCCGCCCC CCGGCCGGGCCGAGGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCCCCCCG GCCGGGCCGGGGCCGAGGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCCCC CGGCCGGGCCGGGGCCGAGGCCGCCGCCGCCGCCGCCCCCCGGCCGGGCC GAGGCCGCCGCCGCCGCCGCCGCCGCCCCCCGGCCGGGCCGAGGCCGCCG CCGCCGCCGCCGCCGCCGCCGCCCCCCGGCCGGGCCGGGGCCGAGGCCGC CGCCGCCGCCGCCCCCCGGCCGGGCCGGGGCCGAGGCCGCCGCCGCCGCC GCCCCCCGGCCGGGCCGAGGCCGCCGCCGCCGCCCCCT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	2	0.5000	437	c.72+ others(448): Show c.72+53_72+54insAGGGGGCGGCGGCGGCGGCCTCGGCCCGGCCGGG GGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGC GGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGG CCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCG GCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCC CGGCCGGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGG CCGGGGGGCGGCGGCGGCGGCGGCCTCGTCCCGGCCGGGGGGCGGCGGCG GCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGACGGCGGCGGCGGCGGCGG CCG	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	1/22			chr2	TogoVar
RPTOR_chr17_80539838_80971368	80963375	T T	TCCCTGTG others(430): Show TCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCC TGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTG CGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGC CCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTC ACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCC CGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTC CCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCT GTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0074 a0001c0004t0023g0074	1	196	0.0051	437	c.393 others(454): Show c.3939+368_3939+369insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACC CCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963403	G G	GTGCGGCC others(430): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0038 a0001c0003t0038	a0001c0003t0038g0087 a0001c0003t0038g0087	1	196	0.0051	437	c.393 others(454): Show c.3939+368_3939+369insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCT GCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACC CCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar

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