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
LAMA5_chr20_62304065_62372312	62360517	G G	GGGTGGAG others(412): Show GGGTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTGG GTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAATAGATGGGTGGGT GGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGG GTGGGTGGGTGGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAAT AGATGGGTGGGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGGTGG GTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGGT GGGTGGGTGGAGGAATAGATGGGGGGGTGGGTGGGTGGAGGGATAGATGG GTGGATGGGTGGGTAGAAGGATAGGTAGGTGGGTGGGTGGGTGGATGGGT GGGTGGAGGGATAGATGGGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0131 a0003c0131	a0003c0131t0001 a0003c0131t0001	a0003c0131t0001g0050 a0003c0131t0001g0050	1	155	0.0065	419	c.450 others(436): Show c.450+1882_450+1883insACCCATCTATCCCTCCACCCACCCATCC ACCCACCCACCCACCTACCTATCCTTCTACCCACCCATCCACCCATCTAT CCCTCCACCCACCCACCCCCCCATCTATTCCTCCACCCACCCACCCACCT ATCCATCCACCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCAT CCACCCACCCATCTATCCCTCCACCCACCCACCCACCCATCTATTCCTCC ACCCACCCATCCACCTATCCATCCACCCACCCACCCACCCACCCATCTAT TCCTCCACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCC ATCTATTCCTCCACCCACCCATCCACCTATCCATCCACCCACCCACCCAC CTACCTATCCTTCTACCCACCCACCCATCTATCCCTCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LMF1_chr16_848634_975984	859587	T T	TCGAGACG others(412): Show TCGAGACGGGTGTGCAGTGATGTCTCGGGACGGGTGTGCACTGATGTCAC GGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGATGTCACGGGACGG GTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTG TGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCA GTGGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGACTGGT GTCTCGGGACGGTTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTC ACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTCGTGTCA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	276	0.0036	419	c.153 others(438): Show c.1530-4882_1530-4881insTGACACGACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACC ACTCACACCCGTCCCGAGACACCACTGCACAACCGTCCCGAGACACCAGT CACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACCACTGCACA CCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGTGACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCC CGTGACATCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACA TCAGTGCACACCCGTCCCGAGACATCACTGCACACCCGTCTCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGGGAG others(412): Show CGTGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGGT CGGCGTGGGTAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGT GAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTG AGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG GTGGGAGTGAGGAGGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAG AGGAGGGGTCGGCGTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	303	0.0033	419	c.-43 others(430): Show c.-4362_-4361insGTGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGG GAGTGAGGAGGGGGTCGGCGTGGGTAGTGGGGAGTGAGGAGGGGTCGGCC TGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGT GGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGAGTGAGGAGGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGT GGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCG	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4200		chr8	TogoVar
MAP3K15_chrX_19355059_19520508	19478087	A A	AGAGGGGG others(412): Show AGAGGGGGGAGGGGGGAGGGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAG GGGGGAGGGGGGAGAGGGGGGAGGGGGGGAGGGGGGAGGGGGGAGAGGGG GGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGGGGGGAGAGGGGGGAGG GGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGG AGGGGGGAGGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGGGAG GGGGGAGAGGGGGGAGGGGGGAGGGGGGGGGAGGGGGGAGGGGGAGAGGG GGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGGAGGGGGGGAGGGGGGA GGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGGAGGGGGGAGGG GGGGGGAGGGGGGAGGGGGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0004 a0002c0014t0004	a0002c0014t0004g0010 a0002c0014t0004g0010	1	140	0.0071	419	c.525 others(436): Show c.525+8394_525+8395insCCCCCCTCCCCCCTCCCCCCCCCTCCCC CCTCCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCT CCCCCCCTCCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCCCTCTCC CCCTCCCCCCTCCCCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCC CCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCCTCCCCCCTCCCCCCCT CCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCTCCCCC CTCTCCCCCCTCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTC CCCCCTCCCCCCTCCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCC TCTCCCCCCTCCCCCCTCCCCCCCCTCCCCCCTCCCCCCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MARCHF1_chr4_163519718_164389019	163894956	T T	TATATATA others(412): Show TATATATATGCATGTGATGCATATATATATGCATGTGATGCATATATATA TATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATATG CATGTGATGCATATATATATATGCATCACATGCATATATATATATGCATG TGATGCATATATATATGCATGTGATGCATATATATATGCATGTGATGCAT ATATATATATGCATGTGATGCATATATATATGCATGTGATGCATATATAT ATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATAT GCATGTGATGCATATATATATATGCATGTGATGCATATATATATGCATGT GATGCATATATATATATGCATGTGATGCATATATATATGCATGTGATGCA TATATATATGCATGTGATGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	79	0.0127	419	c.-38 others(438): Show c.-38-40788_-38-40787insGCATCACATGCATATATATATGCATC ACATGCATATATATATGCATCACATGCATATATATATATGCATCACATGC ATATATATATGCATCACATGCATATATATATATGCATCACATGCATATAT ATATATGCATCACATGCATATATATATATGCATCACATGCATATATATAT ATGCATCACATGCATATATATATGCATCACATGCATATATATATATGCAT CACATGCATATATATATGCATCACATGCATATATATATGCATCACATGCA TATATATATATGCATGTGATGCATATATATATATGCATCACATGCATATA TATATATGCATCACATGCATATATATATATGCATCACATGCATATATATA TATGCATCACATGCATATATATATGCATCACATGCATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(412): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01891.hp1 HG01928.hp2 others(11): Show HG01175.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG02083.hp1 HG02280.hp2 HG02300.hp2 NA18963.hp2 NA18965.hp1 NA18989.hp2 NA19009.hp1 NA19063.hp1 NA19083.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0044 a0001c0001t0001g0045 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0121	14	254	0.0551	419	c.112 others(436): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(412): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG02717.hp2 others(12): Show HG00280.hp2 HG00408.hp2 HG02717.hp2 HG02895.hp1 HG03453.hp2 NA18522.hp1 NA18522.hp2 NA18962.hp1 NA18967.hp2 NA18979.hp2 NA19003.hp2 NA19043.hp2 NA19062.hp2 NA19086.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0008 others(1): Show a0001c0001 a0001c0004 a0001c0008 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0001c0004t0001 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0004t0001 a0001c0008t0002 a0002c0002t0004	a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0138 others(8): Show a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0138 a0001c0001t0002g0142 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0005g0161 a0001c0004t0001g0224 a0001c0008t0002g0024 a0002c0002t0004g0071 a0002c0002t0004g0241	15	255	0.0588	419	c.112 others(436): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(412): Show TAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0207	1	241	0.0041	419	c.112 others(436): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(412): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01891.hp1 HG01928.hp2 others(11): Show HG01175.hp2 HG01891.hp1 HG01928.hp2 HG02083.hp1 HG02280.hp2 HG02300.hp2 HG02965.hp1 HG03492.hp1 NA18963.hp2 NA18989.hp2 NA19009.hp1 NA19063.hp1 NA19083.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0002g0017	14	236	0.0593	419	c.18 others(430): Show c.1863_*1864insTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGG AGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCG CCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCC TCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAG GCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCA ATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTAC CATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(412): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG02717.hp2 others(10): Show HG00280.hp1 HG00408.hp2 HG02717.hp2 HG02895.hp2 HG03453.hp2 NA18522.hp1 NA18522.hp2 NA18962.hp2 NA18967.hp2 NA18979.hp1 NA19043.hp1 NA19086.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0040	13	235	0.0553	419	c.18 others(430): Show c.1863_*1864insTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTG GAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTC GCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGC CTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCA GGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTC AATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTA CCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(412): Show TAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	223	0.0045	419	c.18 others(430): Show c.1863_*1864insTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCT GGAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACT CGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTT CACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAG CCTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCC AGGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCT CAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCT ACCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(412): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGCGATGGTGGTGGT GGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGT GGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTG GTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGAT GGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0221	1	4	0.2500	419	c.160 others(436): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACT ACTGCCACCGCCGCCACCATCACCACCACCACCATCGCCGCCACCACCAC CACCACCACCATCACCACCATCACCACCATCACCACCACCACCACCACCA CCGCCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACC ACCACCACCACCACCACTACTGCCACCGCCGCCACCATCACCACCACCAC CATCGCCGCCACCACCACCACCACCACCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(412): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	196	0.0051	419	c.-28 others(430): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NDUFA3_chr19_54097855_54112568	54109796	C C	CCTCCACC others(412): Show CCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGGC CCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTC CCAGCGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGC CCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCC GGCCCTCCCTCAGTCCCAGTGCTCAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTC AGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCAC CCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCT CAGTCCCAGTGCTCAGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	433	0.0023	419	c.28 others(430): Show c.2894_*2895insCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAG CCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCC GGCCCTCCCTCAGTCCCAGCGCTCAGCCCTCTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCA CAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCCTTCCA CCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCC TCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCG CACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTC CACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2229		chr19	TogoVar
NDUFA3_chr19_54097855_54112568	54109796	C C	CCTCCACC others(412): Show CCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGGC CCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTC CCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGC CCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCC GGCCCTCCCTCAGTCCCAGTGCTCAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTC AGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCAC CCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCT CAGTCCCAGTGCTCAGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02896.hp2 HG03130.hp2 others(1): Show HG02809.hp2 HG02896.hp2 HG03130.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 others(1): Show a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075	4	436	0.0092	419	c.28 others(430): Show c.2894_*2895insCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAG CCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCC GGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCA CAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCCTTCCA CCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCC TCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCG CACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTC CACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2229		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993508	C C	CCCCCCCT others(412): Show CCCCCCCTCCTCTCCCCCCCTCCTCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCC CCCCTCCCCTCCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCTC CCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCC CCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCC CCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0006 a0004c0006t0006	a0004c0006t0006g0169 a0004c0006t0006g0169	1	299	0.0033	419	c.55 others(430): Show c.5595_*5596insCCCCCCTCCTCTCCCCCCCTCCTCTCCCCCCTCC CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCC CTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCCCCCTCCCC CTCCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCTCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCT CCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCC CTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4880		chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535562	G G	GGTGGGTG others(412): Show GGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGG GTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGG GTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGG GCAATGAGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	314	0.0032	419	c.140 others(436): Show c.140+8461_140+8462insTCCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACTCATTGCCCCGGGAG GGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCCCACCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NTM_chr11_131365615_132341822	132070246	A A	AGTTAACA others(412): Show AGTTAACACGTCAAACTGACCGTCACAGGTTAGTTAACACGTCACTCAGC CAAGTTAACACGTCACACTGACCATCACAGATTAGTTAACACGTCACTCA GCCAAGTTAACACGTCACACTGACCATCACAGGTTAGTTAACACGTCACA CAGCCAAGTTAACACGTCACACTGACCATCACAGGTTAGTTAACACGTCA CTCAGCCAAGTTAACACGTCAAACTGACCGTCACCGGTTAGTTAACACGT CACCCAGCCAAGTTAACACGTCAAACTGACCGTCACAGGTTAGTTAACAC GTCACACAGACAAGTTAACACATCACACTGACCGTCACAGGTTAGTTAAC ACGTCACCCAGCCAAGTTAACACGTCACACTGACCATCACAGGTTAGTTA ACACGTCACACAGCCAGGTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	83	0.0120	419	c.168 others(438): Show c.168-76036_168-76035insGTTAACACGTCAAACTGACCGTCACA GGTTAGTTAACACGTCACTCAGCCAAGTTAACACGTCACACTGACCATCA CAGATTAGTTAACACGTCACTCAGCCAAGTTAACACGTCACACTGACCAT CACAGGTTAGTTAACACGTCACACAGCCAAGTTAACACGTCACACTGACC ATCACAGGTTAGTTAACACGTCACTCAGCCAAGTTAACACGTCAAACTGA CCGTCACCGGTTAGTTAACACGTCACCCAGCCAAGTTAACACGTCAAACT GACCGTCACAGGTTAGTTAACACGTCACACAGACAAGTTAACACATCACA CTGACCGTCACAGGTTAGTTAACACGTCACCCAGCCAAGTTAACACGTCA CACTGACCATCACAGGTTAGTTAACACGTCACACAGCCAGGTT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8			chr11	TogoVar
OGFOD3_chr17_82384210_82423586	82386007	C C	CGGGGAGG others(412): Show CGGGGAGGGGCTGTCTCTGTCCCAGGCTCTCCTCCCCATCCTGCCTCCGC CTTCCCCGGCCTCCAGTGATGGGGAGGGGCTGTCTCTGTCCCAGGCTCTC CTCTCTGTCCTCCCTCCGTCTTCCCCTGGCCTCCAGTGATGGGGAGGGGC TGTCTCTGTCCCAGGCTCTCCTCTCTGTCCTCCCTCCGCCTTCCCCTGGC CTCTAGTGATGGGGAGGGGCTGTCTCTGTCCCAGGCTCTCCTCTCTGTCC TCCCTCCGTCTTCCCCTGGCCTCCAGTGATGGGGAGGGGCTGTCTCTGTC CCAGGCTCTCCTCTCTGTCCTCCCTCCGCCTTCCCCTGGCCTCTAGTGAT GGGGAGGGGCTGTCTCTGTCCCAGGCTCTCCTCTCTGTCCTCCCTCCGTC TTCCCCTGGCCTCCAGTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0141 a0001c0001t0010g0141	1	341	0.0029	419	c.63 others(430): Show c.6390_*6391insATCACTGGAGGCCAGGGGAAGACGGAGGGAGGAC AGAGAGGAGAGCCTGGGACAGAGACAGCCCCTCCCCATCACTAGAGGCCA GGGGAAGGCGGAGGGAGGACAGAGAGGAGAGCCTGGGACAGAGACAGCCC CTCCCCATCACTGGAGGCCAGGGGAAGACGGAGGGAGGACAGAGAGGAGA GCCTGGGACAGAGACAGCCCCTCCCCATCACTAGAGGCCAGGGGAAGGCG GAGGGAGGACAGAGAGGAGAGCCTGGGACAGAGACAGCCCCTCCCCATCA CTGGAGGCCAGGGGAAGACGGAGGGAGGACAGAGAGGAGAGCCTGGGACA GAGACAGCCCCTCCCCATCACTGGAGGCCGGGGAAGGCGGAGGCAGGATG GGGAGGAGAGCCTGGGACAGAGACAGCCCCTCCCC	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding		3202		chr17	TogoVar
OGFR_chr20_62799835_62819000	62800016	G G	GGTGGGGG others(412): Show GGTGGGGGGGGTGGGGGGGGGGGGATGGAGAGGGAGCGCGGGGGGGAGGG GGGGGGAGGTGGGGAAGTGGGGGGGGGGGTGGGGGGGGGGGAGGAGGGTG GGGGGGCGGGGAGGGGGGGAGGGGGGGGGGAGGGCGGGGGGGGGGGGGGG AATGGGGGGGGGGGACGAGGGGGGGACGGGGGAGGGCGGAGGGGGGGAGG GGGGGGGGGAAGGCGGGGGGGGGAAGGGAGGGGGGGGGGGGAACGAAGGG GGGAGGGGGAGGGGGGGGGGGGGGGGAAGGGAGGGGGGTGGGGGGGCCGG GGGGGGCGGGGGCGGGGGGGGAGAGGGGGGGAGCGGGGGGGGGGTGGTAG AGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	420	0.0024	419	c.-48 others(430): Show c.-4844_-4843insGTGGGGGGGGTGGGGGGGGGGGGATGGAGAGGGA GCGCGGGGGGGAGGGGGGGGGAGGTGGGGAAGTGGGGGGGGGGGTGGGGG GGGGGGAGGAGGGTGGGGGGGCGGGGAGGGGGGGAGGGGGGGGGGAGGGC GGGGGGGGGGGGGGGAATGGGGGGGGGGGACGAGGGGGGGACGGGGGAGG GCGGAGGGGGGGAGGGGGGGGGGGAAGGCGGGGGGGGGAAGGGAGGGGGG GGGGGGAACGAAGGGGGGAGGGGGAGGGGGGGGGGGGGGGGAAGGGAGGG GGGTGGGGGGGCCGGGGGGGGCGGGGGCGGGGGGGGAGAGGGGGGGAGCG GGGGGGGGGTGGTAGAGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGA	OGFR	ENSG00000060491.17	transcript	ENST00000290291.10	protein_coding		4818		chr20	TogoVar
PDXK_chr21_43714129_43767299	43741280	G G	GGGGGGCT others(412): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGG GCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCT CGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGGCTGGCGGGGGGCTGGCG GGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTG GCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0066 a0001c0002t0066	a0001c0002t0066g0220 a0001c0002t0066g0220	1	299	0.0033	419	c.143 others(434): Show c.143-382_143-381insCTCGCGGGGGGGCTCGCGGGGGGCTGGCGG GGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTCGCGGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGGCTG GCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGG CTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC GGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIMREG_chr17_6439455_6456469	6455713	G G	GGGGGAAG others(412): Show GGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGG GAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGA AGGGGGAAGAGGGGATGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	299	0.0033	419	c.53 others(430): Show c.5366_*5367insGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGG GGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAG GGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGG AGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4245		chr17	TogoVar
PLPP2_chr19_276043_296403	291604	G G	GGAGGGGG others(412): Show GGAGGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGA GGGGAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGG GGAGGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCA GGGGAGCGGCGGGCAGGGGAGTGGCGGGCGGGGCGGGGAGGAGGGGAGGG AGGGGAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCA GCGGCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGG GGCGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAG AGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAG AGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02622.hp1 HG02895.hp1 others(1): Show HG02257.hp1 HG02622.hp1 HG02895.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0079 a0001c0001t0001g0080 a0002c0002t0001g0030 others(1): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0002c0002t0001g0030 a0002c0002t0001g0081	4	276	0.0145	419	c.-26 others(428): Show c.-269_-268insTCCCTCCTCCCCTCCCCCCTCTCCCCTCCCCGCCCC TCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCCCTCCCCGCCCC TCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAACCCTCCCCTCC TCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCGCCTTC CTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCCCCTCCTCCCC GCCCCGCCCGCCACTCCCCTGCCCGCCGCTCCCCTGCCCGCCGCTGCCGT CCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCC CTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGC CGCTCCCCTGCCCGCCGCTGCCGTCCCCCCCTC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		202		chr19	TogoVar
PLPP2_chr19_276043_296403	291613	G G	GGGGGGGA others(412): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGAGGGGAGGAGGGGGAGGGGCGGGGAGGGGAGGGG AGGAGGGAGGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAG GGGAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGA GGGGAAGGGGAGGAGGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCA GCGGCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGG GGCGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAG AGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAG AGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0176 a0002c0002t0001g0176	1	344	0.0029	419	c.-27 others(428): Show c.-278_-277insTCCCTCCTCCCCTCCCCCCTCTCCCCTCCCCGCCCC TCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCCCTCCCCGCCCC TCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAACCCTCCCCTCC TCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCGCCTTC CTCCCCTCCCCTCCCCCCCCTCCTCCCCTTCCCCTCCCTCCCCTCCTCCC CGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCCGCCGCTGCCG TCCCCCCTCCCTCCTCCCCTCCCCCCTCCCTCCTCCCCTCCCCTCCCCGC CCCTCCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCC CGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		211		chr19	TogoVar
PPFIA2_chr12_81252975_81764350	81642703	T T	TGTATCTA others(412): Show TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATGTATTATATACATAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	77	0.0130	419	c.303 others(438): Show c.303+34087_303+34088insGTATGTATATAATACATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATAC	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
RAB3C_chr5_58578075_58864394	58597791	T T	TACGATAA others(412): Show TACGATAACATGTAATACATTATATATAAGTATACGATAACATGTAATAC ATTATATATAAGTATACGATAACATGTAATACATTATATATAAGTATACG ATAACATGTAATACATTATATATAAGTATACGATAACATGTAATACATTA TATATAAGTATACGATAACATGTAATACATTATATATAAGTATACGATAA CATGTAATACATTATATATAAGTATACGATAACATGTAATACATTATATA TAAGTATACGATAACATGTAATACATTATATATAAGTATACGATAACATG TAATACATTATATATAAGTATACGATAACATGTAATACATTATATATAAG TATACGATAACATGTAATACATTATATATAAGTATACGATAACATGTAAT ACATTATATATAAGTATACG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0121 a0001c0001t0023g0121	1	89	0.0112	419	c.24+ others(436): Show c.24+14560_24+14561insCGATAACATGTAATACATTATATATAAG TATACGATAACATGTAATACATTATATATAAGTATACGATAACATGTAAT ACATTATATATAAGTATACGATAACATGTAATACATTATATATAAGTATA CGATAACATGTAATACATTATATATAAGTATACGATAACATGTAATACAT TATATATAAGTATACGATAACATGTAATACATTATATATAAGTATACGAT AACATGTAATACATTATATATAAGTATACGATAACATGTAATACATTATA TATAAGTATACGATAACATGTAATACATTATATATAAGTATACGATAACA TGTAATACATTATATATAAGTATACGATAACATGTAATACATTATATATA AGTATACGATAACATGTAATACATTATATATAAGTATACGA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(412): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAGGGGAGGGGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	30	0.0333	419	c.36 others(430): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGA GGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGG GAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGG AGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGG AGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(412): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGG GAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	30	0.0333	419	c.36 others(430): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGGAGGGG AGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAG GGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGG GAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGG GAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(412): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGG GAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	30	0.0333	419	c.36 others(430): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGG AGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAG GGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGG GAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGG GAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(412): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGG GAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01433.hp2 HG02257.hp2 HG00673.hp1 HG01433.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009	3	32	0.0938	419	c.36 others(430): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGGAGGAGGGGAGGGGGGAG GAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGG AGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAG GGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGG GAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGG GAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(412): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGG GAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	30	0.0333	419	c.36 others(430): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAG GAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGG AGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAG GGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGG GAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGG GAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(412): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGGAGGGGGGAGGAGGGG GGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGG AGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGA AGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGG AAGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAGGGGAGGGGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	30	0.0333	419	c.36 others(430): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGG AGGGGGGAGGAGGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGG AGGAGGGAGGAGGGGAGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGG GAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGA GGGAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGG GAGGGGGAGGAGGGGAAGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGG AGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(412): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGGAGGGGGA GGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGG GGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGG GAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	30	0.0333	419	c.36 others(430): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGG AGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGA GGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAG GAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGG AGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAG GGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGG GAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGG GAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(412): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGGGGA GGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGG GGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGGACGGGG GAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	30	0.0333	419	c.36 others(430): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGGAGGAGGG GAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGG AGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGA GGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAG GAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGG AGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGG GAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGG AGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGG AGGAGGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RNF213_chr17_80255852_80403794	80274585	T T	TGTGGGGG others(412): Show TGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGA GGGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGT GGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTG AGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGGG GGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGTCGGGGGTGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGAGTG TGGGGGGTGAGTGGGGTGTCTGTGGGGGGGTGAGTGGGGTGAGTGTGGGG GTGAGTGGGGTGAGTGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAG TGGGGTGAGTGGGGGGGTGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0046 a0046	a0046c0115 a0046c0115	a0046c0115t0003 a0046c0115t0003	a0046c0115t0003g0035 a0046c0115t0003g0035	1	282	0.0035	419	c.261 others(436): Show c.261+1209_261+1210insAGTGAGTGGGGTGAGTGTGGAGGGTGAG TGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGG GGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAG TGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGT GTCGGGGGTGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGAGTGTGGGGGG TGAGTGGGGTGTCTGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGTGAGTG GGGTGAGTGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG AGTGGGGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80274638	T T	TGAGTGGG others(412): Show TGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGG GTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGT GTGGGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGT GAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGG GGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGG GGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGA GTGGGGTGAGTGGGGGGTGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG02572.hp2 others(1): Show HG01243.hp2 HG02559.hp2 HG02572.hp2 NA19240.hp1	a0016 a0017 a0060 others(1): Show a0016 a0017 a0060 a0062	a0016c0018 a0017c0108 a0060c0111 others(1): Show a0016c0018 a0017c0108 a0060c0111 a0062c0109	a0016c0018t0021 a0017c0108t0003 a0060c0111t0024 others(1): Show a0016c0018t0021 a0017c0108t0003 a0060c0111t0024 a0062c0109t0047	a0016c0018t0021g0085 a0017c0108t0003g0083 a0060c0111t0024g0082 others(1): Show a0016c0018t0021g0085 a0017c0108t0003g0083 a0060c0111t0024g0082 a0062c0109t0047g0084	4	241	0.0166	419	c.261 others(436): Show c.261+1235_261+1236insAGTGGGGTGAGTGTGGGGAGTGAGTGGG GTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGT GGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGTGAA TGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGG GGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTG TGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGA GTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA3_chr7_7631518_7723607	7678876	T T	TATAAATA others(412): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATA TTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	280	0.0036	419	c.-75 others(438): Show c.-758+6953_-758+6954insCTATAAACTAAATATATAAATATATT TATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATA TAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATGTATTTATAAACTAAATAT ATAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAA ATATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAACTAA ATATGTAAATATATATTTATAAACTAAATAAATATATATTTATAAACTAA ATATGTAAATATATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(412): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp1 NA19060.hp2 HG02922.hp1 HG03130.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0229 a0001c0001t0001g0283 a0001c0001t0001g0284	3	131	0.0229	419	c.-75 others(438): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAATATATA TTTATCTATAAATTAAATATATAAATATATTTATCTATAAATTAAATATA TAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATGTATTTATAAACTAAATAT ATAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAA ATATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAACTAA ATATGTAAATATATATTTATAAACTAAATAAATATATATTTATAAACTAA ATATGTAAATATATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPTOR_chr17_80539838_80971368	80963725	C C	CTGCGGCC others(412): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCGCTG TGCGGCCGAGTCCTCACCCTGTCCCCTGTGCGGCCCTCACCCCGTCCCCT CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	88	0.0114	419	c.394 others(436): Show c.3940-515_3940-514insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCGCTGT GCGGCCGAGTCCTCACCCTGTCCCCTGTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPH1_chr21_42467486_42501224	42477029	C C	CCCCTCCA others(412): Show CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC TCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC CCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC TCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCC TCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCA CAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGG GATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCA CACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0347 a0001c0001t0002g0347	1	370	0.0027	419	c.727 others(434): Show c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCATCC CCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGT GGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAG GGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAG GGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGG CATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGG GCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGG TGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGT CAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(412): Show CCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCAC CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCTCAGCC CGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGC CCCACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGCCCCACACCC TCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCC TCCACCCCTCAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCA CAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGG GGTGCCCCACACCCTCTGCCCCCTCCACCCCTCAGCCCGGGGATGCCCCA CACTCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	122	0.0082	419	c.727 others(432): Show c.727+65_727+66insAGTGGAGGGGTCAGAGAGTGTGGGGCATCCCC GGGCTGAGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG GGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG GTCAGAGGGTGTGGGGCATCCCCGGGCTGAGGGGTGGAGGGGGCAGAGGG TGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA TCCCCGGGCTGTGGAGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGC TGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGAGGGGTG GAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCA GAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
SERINC5_chr5_80133727_80261048	80137642	C C	CAAAAAAA others(412): Show CAAAAAAAAAAAAAAAAAAAAAAAAAGTGAGCTGGGCGCAGTGGCTCACG TCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGATGATTGCTTGAGGT CGGGAGTTTAAGACCAACCCGTGCAACATAGTGAGACCCTATCTGTATAA AAAATACAAAAATTAGCCAGGCTTGGTGTTGTAGCCTGTGGTCCCAGCTG CTCGGGAGGCTGAGGCAGGAGGATTGCTTGAGTCCAAGAAGTCAAGGCCA AAATAAGCCATGATGTCACTGTACTCCAGCCTGGGTGACAGAGTGAGACT CTGTCTCAAAAAAAGGAAAAGTGGTATATATACACAATAAAAAATTCAGC CTCAAAAAGAAGGAACTCCTGCAATATGCAACAATTTGGAGGAACGCAAG ACTCTAACTCAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0226 a0001c0001t0036g0226	1	143	0.0070	419	c.60 others(430): Show c.6020_*6021insTTTTTTTTTTGAGTTAGAGTCTTGCGTTCCTCCA AATTGTTGCATATTGCAGGAGTTCCTTCTTTTTGAGGCTGAATTTTTTAT TGTGTATATATACCACTTTTCCTTTTTTTGAGACAGAGTCTCACTCTGTC ACCCAGGCTGGAGTACAGTGACATCATGGCTTATTTTGGCCTTGACTTCT TGGACTCAAGCAATCCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACCACA GGCTACAACACCAAGCCTGGCTAATTTTTGTATTTTTTATACAGATAGGG TCTCACTATGTTGCACGGGTTGGTCTTAAACTCCCGACCTCAAGCAATCA TCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCG CCCAGCTCACTTTTTTTTTTTTTTTTTTTTTTTTT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding		1084		chr5	TogoVar
SIGIRR_chr11_400716_419999	401950	C C	CCCGCTCA others(412): Show CCCGCTCACACCCGACCCGCTCACACCCCGACCCGCTCACCCCCGACCCG CTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCAC CCCGACCGACCCCGCTCCACACCGGACCCCGCTCACACCCGGCCCCGCTC ACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCC GGGCCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCCGCTCACACCC GGCCCCGCTCACACCCGACCCGCTCACACCCGACCCCGCTCACCCCCGGC CCCGCTCACCCGCCCGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCC GCTCACCCGGGACCCCGCTCACACCCGCCCCCCGCTCACCCCGGACCCCG CTCACCCCCGGCCCCGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0088 a0004c0007t0001g0088	1	201	0.0050	419	c.39 others(430): Show c.3945_*3946insTGAGCGGGGCCGGGGGTGAGCGGGGTCCGGGGTG AGCGGGGGGCGGGTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGTGAG CGGGGCCGGGGTGAGCGGGGCGGGCGGGTGAGCGGGGCCGGGGGTGAGCG GGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGG GCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGGCCCGGGGTGAGCGGGTC GGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGT GTGAGCGGGGTCCGGTGTGGAGCGGGGTCGGTCGGGGTGAGCGGGTCGGG GGTGAGCGGGGCTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGA GCGGGTCGGGGTGTGAGCGGGTCGGGTGTGAGCGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3765		chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(412): Show CGGGGGGCGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGAGGCGGGAGGGGGAGGAGGCGGGGAG GCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGC GGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGTGGGCGGGA GGGGGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGG GGCGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGG GGGAGGCGGGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGGGCGGGGGGGC GGGAGGGAGGGGGAGGAGGTCGGGGGGGCGGGAGGGGGAGGACGCGGGGG GGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0029 a0001c0001t0007g0029	1	25	0.0400	419	c.914 others(438): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCG CGTCCTCCCCCTCCCGCCCCCCCGACCTCCTCCCCCTCCCTCCCGCCCCC CCGCCCCCCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCTCCCCCTCCC GCCCCCCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCCCCCC GCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGC CCACCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCC CCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCC GCCTCCTCCCCCTCCCGCCTCCCGCCTCCTCCCCTCCCGCCCCCCCGCCT CCCCCCTGCCGCCCCCCCGCCTCCTCCCCCTCCCGCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AATATAAA others(412): Show AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATACATAAATATAAATATATTATATATATTATACATAAATATAAATAT ATTATATATATTATATATAATATAAATATATTATATATATTATATATAAA TATAAATATATTATATATATTATATATAAATATAAATATATTATATATTA TATAAATATAAATATATTATATATTATATAAATATAAATATATTATATAT TATATATAAATATAAATATATTATATATTATATATAATATAAATATATTA TATATATTATATATAATATAAATATATTAATATATTATATATAATATAAA TATATTATATATAATATAAATATATTATATATATTATATATAATATAAAT ATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03471.hp1 NA19240.hp2 HG02630.hp1 HG03471.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0011 a0001c0001t0005 a0002c0002t0011	a0001c0001t0005g0289 a0002c0002t0011g0007 a0002c0002t0011g0248 a0001c0001t0005g0289 a0002c0002t0011g0007 a0002c0002t0011g0248	3	282	0.0106	419	c.-70 others(436): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATTTATATT ATATATAATATATTAATATATTTATATTATATATAATATATATAATATAT TTATATTATATATAATATATAATATATTTATATTTATATATAATATATAA TATATTTATATTTATATAATATATAATATATTTATATTTATATAATATAT AATATATTTATATTTATATATAATATATATAATATATTTATATTTATATA TAATATATATAATATATTTATATTATATATAATATATATAATATATTTAT ATTTATGTATAATATATATAATATATTTATATTTATGTATAATATATATA ATATATTTATATTATATATAATATATATAATATATTTATAT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(412): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAAATATAAATA TATTATATATATTATATATAAATATAAATATATTATATATTATATAAATA TAAATATATTATATATTATATAAATATAAATATATTATATATTATATATA AATATAAATATATTATATATTATATATAATATAAATATATTATATATATT ATATATAATATAAATATATTATATATATTATATATAATATAAATATATTA ATATATTATATATAATATAAATATATTATATATAATATAAATATATTATA TATATTATATATAATATAAATATATTATATATATTATATATAATATAAAT ATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02074.hp1 HG02300.hp1 others(5): Show HG00621.hp1 HG02074.hp1 HG02300.hp1 HG02683.hp2 HG03834.hp2 HG04184.hp1 HG04228.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0008 a0002c0002 a0002c0007 a0002c0008	a0002c0002t0001 a0002c0002t0005 a0002c0007t0001 others(1): Show a0002c0002t0001 a0002c0002t0005 a0002c0007t0001 a0002c0008t0001	a0002c0002t0001g0323 a0002c0002t0001g0328 a0002c0002t0001g0329 others(5): Show a0002c0002t0001g0323 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0005g0092 a0002c0007t0001g0322 a0002c0008t0001g0326	8	139	0.0576	419	c.-70 others(436): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA TAATATATTTATATTATATATAATATATAATATATTTATATTTATATATA ATATATAATATATTTATATTTATATAATATATAATATATTTATATTTATA TAATATATAATATATTTATATTTATATATAATATATATAATATATTTATA TTTATATATAATATATATAATATATTTATATTATATATAATATATATAAT ATATTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(412): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAAATATAAATA TATTATATATATTATATATAAATATAAATATATTATATATTATATAAATA TAAATATATTATATATTATATAAATATAAATATATTATATATTATATATA AATATAAATATATTATATATTATATATAATATAAATATATTATATATATT ATATATAATATAAATATATTATATATATTATATATAATATAAATATATTA ATATATTATATATAATATAAATATATTATATATAATATAAATATATTATA TATATTATATATAATATAAATATGTTATATATATTATATATAATATAAAT ATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0316 a0002c0002t0001g0316	1	132	0.0076	419	c.-70 others(436): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAACATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA TAATATATTTATATTATATATAATATATAATATATTTATATTTATATATA ATATATAATATATTTATATTTATATAATATATAATATATTTATATTTATA TAATATATAATATATTTATATTTATATATAATATATATAATATATTTATA TTTATATATAATATATATAATATATTTATATTATATATAATATATATAAT ATATTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLCO3A1_chr15_91848708_92170903	92143399	A A	ATAATATA others(412): Show ATAATATATGTAATATTATATATAATATATATAATATATATTATATATAA TATATATAATATATATATTATATAATATATATAAAAAATATATATTATAT ATAAAAAATATATATTATATAATATATATAAAAAATATATATTATATATA AAAAATATATATTATATAATATATATAAAATATATATATTATATAATATA TATATAATATATATAAAATATATATATTATATAATATATATATAATATAT ATAAAATATATATATTATATAATATATATATAATATATATAAAATATATA TATTATATAATATATATATAATATATATAAAATATATATATTATATAATA TATATATAATATATATAAAATATATATATTATATAATATATATATAATAT ATATATATAATATATATAAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	165	0.0061	419	c.151 others(438): Show c.1513-3585_1513-3584insTAATATATGTAATATTATATATAATA TATATAATATATATTATATATAATATATATAATATATATATTATATAATA TATATAAAAAATATATATTATATATAAAAAATATATATTATATAATATAT ATAAAAAATATATATTATATATAAAAAATATATATTATATAATATATATA AAATATATATATTATATAATATATATATAATATATATAAAATATATATAT TATATAATATATATATAATATATATAAAATATATATATTATATAATATAT ATATAATATATATAAAATATATATATTATATAATATATATATAATATATA TAAAATATATATATTATATAATATATATATAATATATATAAAATATATAT ATTATATAATATATATATAATATATATATATAATATATATAAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9			chr15	TogoVar
SMAD2_chr18_47803957_47935659	47850548	A A	AATATATA others(412): Show AATATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATAATATATATTATATATTATATATATTATGTATAATATATAT TATATATTATATATATATTATATATATTATGTATAATATATATTATATAT TATATATATATTATATATATTATGTATAATATATATTATATATTATATAT ATATTATATATATTATGTATAATATATATTATATATTATATATATATTAT ATATATTATGTATAATATATATTATATATTATATATATATTATATATATT ATGTATAATATATATTATATATTATATATATATTATATATATTATGTATA ATATATATTATATATTATATATATATTATATATATTATGTATAATATATA TTATATATTATATATATATT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02135.hp2 HG02129.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0052 a0001c0001t0013 a0001c0001t0052	a0001c0001t0013g0221 a0001c0001t0052g0217 a0001c0001t0013g0221 a0001c0001t0052g0217	2	207	0.0097	419	c.784 others(434): Show c.784+725_784+726insAATATATATATAATATATAATATATATTAT ACATAATATATATAATATATATATAATATATAATATATATTATACATAAT ATATATAATATATATATAATATATAATATATATTATACATAATATATATA ATATATATATAATATATAATATATATTATACATAATATATATAATATATA TATAATATATAATATATATTATACATAATATATATAATATATATATAATA TATAATATATATTATACATAATATATATAATATATATATAATATATAATA TATATTATACATAATATATATAATATATATATAATATATAATATATATTA TACATAATATATATAATATATAATATATATTATACATAATATATATAATA TATATATAATATATAATATATATTATACATAATATATAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SNX9_chr6_157818246_157950077	157827089	C C	CATATATT others(412): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAA ACATATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATAAA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	210	0.0048	419	c.12+ others(434): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATAAAATATATTATAGTTTATATAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar

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