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
MPPED1_chr22_43407014_43512848	43432643	G G	GGAGAGAG others(410): Show GGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGGAGG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAG GAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGA AGGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGAGAGAGAGAGAA AGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGAGAAAGGGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19240.hp1 HG03130.hp2 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0033 a0001c0006t0005g0037 a0001c0006t0005g0033 a0001c0006t0005g0037	2	223	0.0090	417	c.225 others(434): Show c.225-2390_225-2389insAGAGAGAGGGAAAGAGAGAGAGAAGGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAG GAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGA GAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432661	A A	AGAGAGAG others(410): Show AGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGA GAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAA AGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAG ATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGG AGAGAGAGATAAAGGGAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0161 a0001c0003t0010g0161	1	243	0.0041	417	c.225 others(434): Show c.225-2366_225-2365insGGAAAGAGAGAAGGGGAGGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG ATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAA GGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGA GAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH1_chr8_144143016_144266926	144203089	G G	GGGGGGGG others(410): Show GGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGGAGCGCCC GCTGTCTGTGGAGGGGCGGGGGGAGGGGAGCGCCCGCTCTCTGTGGAGGG GCGGGGAGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGTCTGTGGA GGGGCGGGGAGGGGAGCTCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAG CGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGGAGCGCCCGCTGTCTGTG GAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGGAGCGGGGGGGGAGCG CCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCCCGCTGTCTGTGGAG GGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAAG CGCCCGCTGTCTGTGGAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0038 a0002c0008t0001g0038	1	97	0.0103	417	c.114 others(436): Show c.1141+2555_1141+2556insAGCGCCCGCTGTCTGTGGAGGGGCGG GGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGAGGGGAGCGCC CGCTCTCTGTGGAGGGGCGGGGAGGGGAGCGCCCGCTGTCTGTGGAGGGG CGGGGGGGTCTGTGGAGGGGCGGGGAGGGGAGCTCCCGCTGTCTGTGGAG GGGCGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGGA GCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTG GAGCGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCG CCCGCTGTCTGTGGAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGGAG GGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGGATGGGGGGG	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(410): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01169.hp2 HG01346.hp1 others(12): Show HG00639.hp1 HG01169.hp2 HG01346.hp1 HG01361.hp1 HG01884.hp2 HG01975.hp2 HG02300.hp1 HG02683.hp2 HG02698.hp2 HG03710.hp1 HG03834.hp1 HG04184.hp1 NA18977.hp1 NA18983.hp2 NA18984.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0002g0002 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0002g0002 a0003c0003t0001g0019	15	237	0.0633	417	c.18 others(428): Show c.1863_*1864insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(410): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02109.hp1 HG03041.hp2 others(1): Show HG01167.hp2 HG02109.hp1 HG03041.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012	4	226	0.0177	417	c.18 others(428): Show c.1863_*1864insTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGA GTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGC CACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCT CGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGG CTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAA TCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACC ATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(410): Show TAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG03942.hp1 others(1): Show HG02572.hp1 HG02723.hp2 HG03942.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0005 a0001c0001t0001g0013	4	226	0.0177	417	c.18 others(428): Show c.1863_*1864insTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGG AGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCG CCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCA CCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCC TCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAG GCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCA ATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTAC CATGCCTGCCTATTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(410): Show TAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAG ACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTA CAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGAC CCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAG GTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTAC TAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGA GCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGA GCGAGACGCCATCTCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	223	0.0045	417	c.18 others(428): Show c.1863_*1864insTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTG GAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTC GCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTC ACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGC CTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCA GGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTC AATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTA CCATGCCTGCCTATTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735535	A A	AAAAAAAA others(410): Show AAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	339	0.0029	417	c.18 others(428): Show c.1862_*1863insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1767		chr1	TogoVar
MTERF3_chr8_96234402_96266610	96250613	G G	GGAAGCAG others(410): Show GGAAGCAGAAGCAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAA GAAGCAGAAGAAGCAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAG AAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGCAGAA GAAGCAGAAGAAGAAGCAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGA AGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGAAGCAGAAGAAGAAGCAG AAGCAGAAGCAGAAGCAGAAGCAGAAGAAGAAGCAGAAGAAGAAGAAGAA GCAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	278	0.0036	417	c.677 others(432): Show c.677+292_677+293insTTCTTCTTCTTCTTCTGCTTCTTCTTCTTC TTCTGCTTCTTCTTCTGCTTCTGCTTCTGCTTCTGCTTCTGCTTCTTCTT CTGCTTCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCT GCTTCTTCTTCTTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTGCTTCTTC TTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTGCTTCTTCTT CTTCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTGCTTCTTCTGCTTCTTCTTCTTCTGC TTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTGCTTCTTCTTCTTCTTCTTCTGCTTCTGCTTC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250613	G G	GGAAGCAG others(410): Show GGAAGCAGAAGCAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAA GAAGCAGAAGAAGCAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAG AAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGCAGAAGAAGCA GAAGAAGAAGCAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGA AGAAGAAGAAGCAGAAGAAGAAGAAGAAGCAGAAGAAGAAGCAGAAGCAG AAGCAGAAGCAGAAGAAGAAGCAGAAGAAGAAGAAGAAGCAGAAGAAGAA GAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	278	0.0036	417	c.677 others(432): Show c.677+292_677+293insTTCTTCTTCTTCTTCTTCTTCTTCTTCTGC TTCTTCTTCTTCTTCTGCTTCTTCTTCTGCTTCTGCTTCTGCTTCTGCTT CTTCTTCTGCTTCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCT TCTTCTGCTTCTTCTTCTTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTGC TTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTGCTT CTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTGCTTCTTCTGCTTCTTCTTCTTCTGC TTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTGCTTCTTCTTCTTCTTCTTCTGCTTCTGCTTC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MYL2_chr12_110905845_110925579	110905926	A A	ATATATTA others(410): Show ATATATTATATATAATATATATTATATATAATATATATTATATTATATAA TATATATTATATATAATATATATTATATATAATATAATATATATTATATA TAATATATATTATATAATATAATATATATTATATATAATATATATTATAT TATATATAATATATATTATATATAATATATATTATATATAATATATATTA TATAAAATATATATTATATTATATATAATATATATTATATTATATATAAA ATATATTATATAAAATATATATTATATTATATATAATATATATTATATAA AATATATATTATATTATATATAATATATATTATATAAAATATATATTATA TTATATAATATATATTATATAAAATATATATTATATTATATATAATATAT ATTATATAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	366	0.0027	417	c.51 others(428): Show c.5150_*5151insATATATATTTTATATAATATATATTATATATAAT ATAATATATATTTTATATAATATATATTATATAATATAATATATATTTTA TATAATATATATTATATATAATATAATATATATTTTATATAATATATATT ATATATAATATAATATATATTTTATATAATATATTTTATATATAATATAA TATATATTATATATAATATAATATATATTTTATATAATATATATTATATA TAATATATATTATATATAATATATATTATATATAATATAATATATATTAT ATATAATATATATTATATTATATAATATATATTATATATAATATATATTA TATTATATATAATATATATTATATATAATATATATTATATAATATAATAT ATATTATATATAATATATATTATATATAATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4918		chr12	TogoVar
NELFB_chr9_137250327_137278542	137273768	A A	AAATAATT others(410): Show AAATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTG GGGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAG GTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGAGGATGATA TAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAA TTTCTGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGGG AGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATA TAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTAA TTTCTGGGGGAGGTTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0073 a0001c0002t0002g0073	1	6	0.1667	417	c.84 others(426): Show c.840_*841insAATAATTTCTGGGGGAGGATGATATAATTTCTGGGG GAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGAT ATAATAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAATA ATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCT GGGGAGGATGATATAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGG GAGGTTGATGTAATTTCTGGGGAGGTTGATATAATTTCTGGGGGAGGATA TAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTT CTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGG GAGGTTGATGTAATTTCTGGGGGAGGTTGAT	NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding		227		chr9	TogoVar
NELFB_chr9_137250327_137278542	137273768	A A	AATAATTT others(410): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTGGG GGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGT TGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATAT AATAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGGG AGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATA TAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTAA TTTCTGGGGGAGGTTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0070 a0001c0002t0002g0070	1	6	0.1667	417	c.84 others(426): Show c.840_*841insATAATTTCTGGGGGAGGATGATATAATTTCTGGGGG AGGTTGATGTAATTTCTGGGGAGGTTGATATAATTTCTGGGGGAGGATAT AATAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGG GGGAGGATGATATAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGGG AGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATA TAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTT CTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGG GAGGTTGATGTAATTTCTGGGGGAGGTTGAT	NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding		227		chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(410): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTG CAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGA GTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCG GGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCC AGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTC CCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0265 a0001c0011t0001g0265	1	206	0.0049	417	c.140 others(434): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCATTGCCCC GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGC CCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(410): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATGTATTACATATATGTATTACATATATGTAATACATA TATAACATGTATTACATATATGTATTACATATATAACATGTATTACATAT ATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	122	0.0082	417	c.70 others(428): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATGTATTACATATATGTATTACA TATATGTAATACATATATAACATGTATTACATATATGTATTACATATATA ACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(410): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCC CTTCATCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCC CTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACC TCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCA CCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCAC CCTGCACCTCCCACCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0272 a0002c0003t0001g0272	1	91	0.0110	417	c.36 others(428): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCCCTTCATCTCCCCCACTCACCCTCCACCTCCCCCCC ACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTC CCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACC TCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCC ACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(410): Show GGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGG GGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAA GAGGGGATGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	29	0.0345	417	c.53 others(428): Show c.5377_*5378insGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAG GGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGG GAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGA GGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PKP3_chr11_389209_409908	401430	G G	GCCCCGCT others(410): Show GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCG GCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGGC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	78	0.0128	417	c.173 others(434): Show c.1737+728_1737+729insCGCTCACACCCGGCCCCGCTCACACCCG CCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCC GCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGG CCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCA CCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACAC CCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(410): Show GCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGGCCCGCTCACACCCGGCCCGCTCACA CCCGGCCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0115 a0001c0003t0001g0115	1	58	0.0172	417	c.173 others(434): Show c.1737+856_1737+857insACCCGCCCCGCTCACACCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACA CCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCG CCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCC CGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCA CCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCGCTCACACCC GGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACCCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRKCZ_chr1_2045411_2190395	2122247	G G	GTCATGGT others(410): Show GTCATGGTGGTAGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGT CATGGTGGTAGTTAGGGTCACGGCGATAGTTGGGGTCATGGTGGTAGTTA GGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTA GTTAGGGTCATGGTGGTAGTTGGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGTTAGGGTCACGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0155 a0001c0003t0001g0155	1	199	0.0050	417	c.335 others(436): Show c.335-13014_335-13013insCATGGTGGTAGTTAGGTTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTA GGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCGATA GTTGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGT GGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCA CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGC GTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CTTCCTCC others(410): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCTCCACCTC CCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCC CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCT CCACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	73	0.0137	417	c.23 others(428): Show c.2397_*2398insTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCT CCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PTPRT_chr20_42067756_43194906	42993451	T T	TATACACA others(410): Show TATACACACACATATATATGTGTATATATATATACATACACATATATATG TGTATGTATATATATATATACACATATATATGTGTGTGTATATATATATA CACATATATATGTGTGTGTATATATATATACACATATATATAGTGTGTGT ATATATATACATATATTTGTGTATATATATACATATATGTGTGTGTATAT ATATACATATATGTGTGTGTGTATATATACATATGTGTGTGTATATATAC ATATATATGTGTGTGTATATATACACATATATGTGTGTGTATATATACAT ATATGTGTATATATATACACATATATGTATATATACACACACATATATGT GTATATATACACACACATATATGTGTGTACATATACACACACATATATGT GTGTGTATATATATACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0053 a0001c0021t0001g0053	1	55	0.0182	417	c.89- others(436): Show c.89-107520_89-107519insGTGTATATATATACACACACATATAT GTGTGTGTATATGTACACACATATATGTGTGTGTATATATACACATATAT GTGTGTGTATATATACATATATGTGTATATATATACACATATATGTATAT ATACACACACATATATGTGTATATATACACACACATATATATGTATATAT ACACACACATATGTATATATACACACACACATATATGTATATATATACAC ACACATATATGTATATATATACACAAATATATGTATATATATACACACAC TATATATATGTGTATATATATATACACACACATATATATGTGTATATATA TATACACACACATATATATGTGTATATATATATATACATACACATATATA TGTGTATGTATATATATATACACATATATATGTGTGTGTAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42993451	T T	TATACACA others(410): Show TATACACACACATATATATGTGTATATATATATACATACACATATATATG TGTATGTATATATATATATACACATATATATGTGTGTGTATATATATATA CACATATATATGTGTGTGTATATATATATACACATATATATAGTGTGTGT ATATATATACATATATTTGTGTATATATATACATATATGTGTGTGTATAT ATATACATATATGTGTGTGTGTATATATACATATGTGTGTGTATATATAC ATATATATGTGTGTGTATATATACACATATATGTGTGTGTATATATACAT ATATGTGTATATATATACACATATATGTATATATACACACACATATATGT GTATATATACACACACATATATGTGTGTATATATACACACACATATATGT GTGTGTATATATATACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03195.hp1 HG02280.hp1 HG03195.hp1	a0001 a0004 a0001 a0004	a0001c0007 a0004c0006 a0001c0007 a0004c0006	a0001c0007t0004 a0004c0006t0009 a0001c0007t0004 a0004c0006t0009	a0001c0007t0004g0062 a0004c0006t0009g0051 a0001c0007t0004g0062 a0004c0006t0009g0051	2	56	0.0357	417	c.89- others(436): Show c.89-107520_89-107519insGTGTATATATATACACACACATATAT GTGTGTGTATATATACACACATATATGTGTGTGTATATATACACATATAT GTGTGTGTATATATACATATATGTGTATATATATACACATATATGTATAT ATACACACACATATATGTGTATATATACACACACATATATATGTATATAT ACACACACATATGTATATATACACACACACATATATGTATATATATACAC ACACATATATGTATATATATACACAAATATATGTATATATATACACACAC TATATATATGTGTATATATATATACACACACATATATATGTGTATATATA TATACACACACATATATATGTGTATATATATATATACATACACATATATA TGTGTATGTATATATATATACACATATATATGTGTGTGTAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(410): Show AGGGGAAGAGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGAGGGGGAGG GGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	30	0.0333	417	c.36 others(428): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAG GGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGG GGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGA GGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAG GGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGG AAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGA GGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(410): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGAGG GGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	30	0.0333	417	c.36 others(428): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAG GGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGG GGGGAGGAGGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGA GGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGG AAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGA GGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(410): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGAGGAGGGGAGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	30	0.0333	417	c.36 others(428): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAG GGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGG GGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGGAGG AGGGAGGAGGGGAGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAG GGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGG AAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGA GGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(410): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	30	0.0333	417	c.36 others(428): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGAGGGGAG GGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGG GGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGA GGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAG GGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGG AAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGA GGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(410): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	30	0.0333	417	c.36 others(428): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGAGGA GGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAG GGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGG AAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGA GGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RERE_chr1_8347404_8822640	8502371	A A	ATCCGGGA others(410): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCG TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGG GGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGTGGGTCAGCCCCC CACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC GCCTGGCCAGCCACCCCG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0008 a0001c0015t0001g0008	1	202	0.0050	417	c.880 others(434): Show c.880-4843_880-4842insCGGGGTGGCTGGCCAGGCGGGGGGCTGA TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGAC CCACCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCCCCGCGC CTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGTGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGTGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RNF213_chr17_80255852_80403794	80274585	T T	TGTGGGGG others(410): Show TGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGA GGGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGT GGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTG AGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGGG GGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGTCGGGGGTGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGAGTG TGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG TGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTG GGGTGAGTGGGGGGGTGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02897.hp2 HG03486.hp2 others(1): Show HG02486.hp1 HG02897.hp2 HG03486.hp2 NA19240.hp2	a0017 a0018 a0101 a0017 a0018 a0101	a0017c0033 a0018c0019 a0101c0106 a0017c0033 a0018c0019 a0101c0106	a0017c0033t0009 a0018c0019t0014 a0101c0106t0009 a0017c0033t0009 a0018c0019t0014 a0101c0106t0009	a0017c0033t0009g0033 a0018c0019t0014g0017 a0018c0019t0014g0034 others(1): Show a0017c0033t0009g0033 a0018c0019t0014g0017 a0018c0019t0014g0034 a0101c0106t0009g0032	4	285	0.0140	417	c.261 others(434): Show c.261+1209_261+1210insAGTGAGTGGGGTGAGTGTGGAGGGTGAG TGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGG GGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAG TGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGT GTCGGGGGTGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGAGTGTGGGGGG TGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGGGGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355637	G G	GGGAAGAA others(410): Show GGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGAGGAAGAAGCGAC GAAGAAGTGGGGTGACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGT GAACAGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGG GGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACAGGGG GAAGAAGCGGGGTGGACGGGAATGGGGGCTTACGGAGGAAGAAGCGGGGT GACCGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGG GGCTCACGGAGGAAGAAGCGGGGTGGATGGGAATCGGGGCTCACGGAGGA AGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGCGGGGTGACCG GGATTGGGGGCTTATGGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18979.hp2 HG01346.hp1 NA18979.hp2	a0001 a0001	a0001c0004 a0001c0075 a0001c0004 a0001c0075	a0001c0004t0056 a0001c0075t0013 a0001c0004t0056 a0001c0075t0013	a0001c0004t0056g0164 a0001c0075t0013g0099 a0001c0004t0056g0164 a0001c0075t0013g0099	2	244	0.0082	417	c.108 others(438): Show c.10862+1076_10862+1077insAATGGGAATGGGGGCTTACAGAGG AAGAAGCGACGAAGAAGTGGGGTGACCGGGAATGGGGGCTCACAGGGGAA GAAGTGGGGTGAACAGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTGAA CGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGG CTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACGGAGGAA GAAGCGGGGTGACCGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTGAA TGGGAATGGGGGCTCACGGAGGAAGAAGCGGGGTGGATGGGAATCGGGGC TCACGGAGGAAGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGC GGGGTGACCGGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355637	G G	GGGAAGAA others(410): Show GGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACGGGGGAAGAAGCGGG GTGAATGGGAATGGGGGCTTACAGAGGAAGAAGCGACGAAGAAGTGGGGT GACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGTGAACAGGATTGGG GGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGG AAGAAGCGGGGTGGACGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGT GGACGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGG GGCTCACGGAGGAAGAAGCGGGGTGGATGGGAATCGGGGCTCACGGAGGA AGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGCGGGGTGACCG GGATTGGGGGCTTATGGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0104 a0104	a0104c0085 a0104c0085	a0104c0085t0003 a0104c0085t0003	a0104c0085t0003g0291 a0104c0085t0003g0291	1	243	0.0041	417	c.108 others(438): Show c.10862+1076_10862+1077insAATGGGAATGGGGGCTTACGGGGG AAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGAGGAAGAAGCGACGAA GAAGTGGGGTGACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGTGAA CAGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGC TTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACAGGGGGAA GAAGCGGGGTGGACGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTGAA TGGGAATGGGGGCTCACGGAGGAAGAAGCGGGGTGGATGGGAATCGGGGC TCACGGAGGAAGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGC GGGGTGACCGGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355637	G G	GGGAAGAA others(410): Show GGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACGGGGGAAGAAGCGGG GTGAATGGGAATGGGGGCTTACAGAGGAAGAAGCGACGAAGAAGTGGGGT GACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGTGAACAGGATTGGG GGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGG AAGAAGCGGGGTGGACGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGT GGACGGGAATGGGGGCTTACGGAGGAAGAAGCGGGGTGACCGGGAATGGG AGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTCACGGAGGA AGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGCGGGGTGACCG GGATTGGGGGCTTATGGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0027 a0027	a0027c0038 a0027c0038	a0027c0038t0003 a0027c0038t0003	a0027c0038t0003g0013 a0027c0038t0003g0013	1	243	0.0041	417	c.108 others(438): Show c.10862+1076_10862+1077insAATGGGAATGGGGGCTTACGGGGG AAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGAGGAAGAAGCGACGAA GAAGTGGGGTGACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGTGAA CAGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGC TTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACAGGGGGAA GAAGCGGGGTGGACGGGAATGGGGGCTTACGGAGGAAGAAGCGGGGTGAC CGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGC TCACGGAGGAAGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGC GGGGTGACCGGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA3_chr7_7631518_7723607	7678876	T T	TATAAATA others(410): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATT TATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	280	0.0036	417	c.-75 others(436): Show c.-758+6953_-758+6954insCTATAAATTAAATATATAAATATATT TATCTATAAATTAAATATATAAATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATAT ATTTATCTATAAATTAAATATATAAATATGTATTTATAAACTAAATATAT AAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAAT ATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	300642	A A	AAGGGGCT others(410): Show AAGGGGCTGGCCCAGCCTAGGCCTGCAGAATCTCTCACCCGCTCTAGCAG GGGCTGGCCCAGCCTAGACCTGCAGAATCTCTCACCCACTCTAGCAGGGG CTGGCCCATAGGCCTGCAGAATCTCTCACCCGCTCTAGCAGGGGCTGGCC CAGCCTAGGCCCGCAGAATCTCTTACCCGCTCTAGCAGGGGCTGGCCCAG CCTAGGCCTGCAGAATCTCTCACCCGCTCTAGCAGGGGCTGGCCCAGCCT AGGCCTGCAGAAGCTCTCACCCACTCTAGCAGGGGCTGCCACAGCCTAGG CCTGCAGAATCTCTCACCCACTCTAGCAGGGGCTGGCCCATAGGCCTGCA GAATCTCTCACCCGCTCTAGCAGGGGCTGGCCCAGCCTAGGCCCGCAGAA TCTCTTACCCGCTCTAGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	132	0.0076	417	c.351 others(436): Show c.351+18777_351+18778insGCTAGAGCGGGTAAGAGATTCTGCGG GCCTAGGCTGGGCCAGCCCCTGCTAGAGCGGGTGAGAGATTCTGCAGGCC TATGGGCCAGCCCCTGCTAGAGTGGGTGAGAGATTCTGCAGGCCTAGGCT GTGGCAGCCCCTGCTAGAGTGGGTGAGAGCTTCTGCAGGCCTAGGCTGGG CCAGCCCCTGCTAGAGCGGGTGAGAGATTCTGCAGGCCTAGGCTGGGCCA GCCCCTGCTAGAGCGGGTAAGAGATTCTGCGGGCCTAGGCTGGGCCAGCC CCTGCTAGAGCGGGTGAGAGATTCTGCAGGCCTATGGGCCAGCCCCTGCT AGAGTGGGTGAGAGATTCTGCAGGTCTAGGCTGGGCCAGCCCCTGCTAGA GCGGGTGAGAGATTCTGCAGGCCTAGGCTGGGCCAGCCCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80700730	A A	ATGATGGT others(410): Show ATGATGGTGATGGTGATGGTAGAGATGGTGATGGTGGTGATGATGATGGT CGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGG TAGAGATGATGGTGATGGTGATGATGGAGGTGATGGTGGTGATGGTGATG GTGGTGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGATGATGGTGAT GATGGAGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGGTGGTGG TGGTGGTGATGATGGTGACGGTGATGGTAGAGATGATAGTGATAGTGGTG GTGATGATGGTGGTGATGGTGGTGGTGGTGATGATGGTGATGGTGATGGT AGAGATGGTGGTGGTGGTGGTGGTGATGATGGTGACGGTGATGGTAGAGA TGATGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01517.hp1 HG01074.hp1 HG01517.hp1	a0001 a0001	a0001c0004 a0001c0011 a0001c0004 a0001c0011	a0001c0004t0023 a0001c0011t0047 a0001c0004t0023 a0001c0011t0047	a0001c0004t0023g0077 a0001c0011t0047g0079 a0001c0004t0023g0077 a0001c0011t0047g0079	2	9	0.2222	417	c.349 others(434): Show c.349-7103_349-7102insATGGTGATGGTAGAGATGGTGATGGTGG TGATGATGATGGTCGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGATGGTAGAGATGATGGTGATGGTGATGATGGAGGTGATGGT GGTGATGGTGATGGTGGTGGTGGTGGTGATGATGGTGATGGTGATGGTAG AGATGATGGTGATGATGGAGGTGGTGGTGATGGTGATGGTGGTGGTGATG GTGATGGTGGTGGTGGTGGTGATGATGGTGACGGTGATGGTAGAGATGAT AGTGATAGTGGTGGTGATGATGGTGGTGATGGTGGTGGTGGTGATGATGG TGATGGTGATGGTAGAGATGGTGGTGGTGGTGGTGGTGATGATGGTGACG GTGATGGTAGAGATGATGGTGGTGGTGGTGGTGATGGTG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(410): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGG AGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGA GGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGA AGAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAG AAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGA GGAGGAGAAGAAGGAGGA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0001t0007g0154 a0001c0001t0007g0155	2	3	0.6667	417	c.807 others(434): Show c.807-1376_807-1375insTCCTCCTTCTTCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCTCC CCCTCCCTCCCTCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCC TCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCC TCCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCC TCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGCGA others(410): Show GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGA GGGGAGGGGAGCGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGG AGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGA GGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	40	0.0250	417	c.-30 others(436): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCGCTCCCCTCCCCTCGCTCGC TCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGC TCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCC TCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCT CCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTC CCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTC GCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SIGIRR_chr11_400716_419999	401430	G G	GCCCCGCT others(410): Show GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCG GCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	95	0.0105	417	c.44 others(428): Show c.4465_*4466insGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCC GGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTG AGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGG GGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC GGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGCCGGGG GTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGA GCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGG GGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4285		chr11	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCGCTC others(410): Show GCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGGCCCGCTCACACCCGGCCCGCTCACA CCCGGCCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	67	0.0149	417	c.43 others(428): Show c.4343_*4344insGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCG GGGGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGCCGGGT GTGAGCGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAG CGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGG GGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGC CGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGG TGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTG AGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCG GGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCGCTC others(410): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACA CCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0076 a0003c0005t0001g0076	1	67	0.0149	417	c.43 others(428): Show c.4343_*4344insGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCG GGGGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGTGTGAGCGGGCCGGGG GTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAG CGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGG GGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGC CGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGG TGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTG AGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCG GGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(410): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGGCGGCAGGGGGAGGAGG CGGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGG AGGCGGGAGGGGGAGGAGGCGTGGGGGCGGGAGGGGGAGGAGGCGGGGAG GCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGG GAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGCGGGAGGGGCGGGAGGGGG AGGAGGCGGGGGGCGGGGGGGCGGGAGGGGAAGGAGGCGGGGGGGCGGGA GGGGGCGGGAGGGGGAGGAGGCGGGGGGCGGGGGGGCGGGAGGGGAAGGG GGCGGGGGGGCAGGGGGGGCGGGGGGGCGGGAGGGGGAGGACGCGGGGGG GGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp2 HG02886.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0021 a0001c0001t0011 a0001c0001t0021	a0001c0001t0011g0210 a0001c0001t0021g0025 a0001c0001t0011g0210 a0001c0001t0021g0025	2	26	0.0769	417	c.914 others(436): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCGCCCCCCCTGCCCCCCCGCCCCCTTCCC CTCCCGCCCCCCCGCCCCCCGCCTCCTCCCCCTCCCGCCCCCTCCCGCCC CCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCCCCCGCCTCCTCCCCCTCC CGCCCCTCCCGCCCCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCGCCCCC CCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGC CTCCTCCCCCTCCCGCCCCCACGCCTCCTCCCCCTCCCGCCTCCCCGCCT CCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTCC CCCTGCCGCCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(410): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATTATATATAAATATAAATATA TTATATATATTATATATAAATATAAATATATTATATATTATATAAATATA AATATATTATATATTATATAAATATAAATATATTATATATTATATATAAA TATAAATATATTATATATTATATATAATATAAATATATTATATATATTAT ATATAATATAAATATATTATATATATTATATATAATATAAATATATTAAT ATATTATATATAATATAAATATATTATATATAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAATATAAATAT ATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0314 a0002c0002t0001g0314	1	132	0.0076	417	c.-70 others(434): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA TAATATATTTATATTATATATAATATATAATATATTTATATTTATATATA ATATATAATATATTTATATTTATATAATATATAATATATTTATATTTATA TAATATATAATATATTTATATTTATATATAATATATATAATATATTTATA TTTATATATAATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(410): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TTATATATAATATAAATATATTATATATATTATATATAAATATAAATATA TTATATATATTATATATAAATATAAATATATTATATATTATATAAATATA AATATATTATATATTATATAAATATAAATATATTATATATTATATATAAA TATAAATATATTATATATTATATATAATATAAATATATTATATATATTAT ATATAATATAAATATATTAATATATTATATATAATATAAATATATTATAT ATAATATAAATATATTATATATATTATATATAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAATATAAATAT ATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0255 a0002c0002t0002g0255	1	132	0.0076	417	c.-70 others(434): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TTTATATTATATATAATATATTAATATATTTATATTATATATAATATATA TAATATATTTATATTATATATAATATATAATATATTTATATTTATATATA ATATATAATATATTTATATTTATATAATATATAATATATTTATATTTATA TAATATATAATATATTTATATTTATATATAATATATATAATATATTTATA TTTATATATAATATATATAATATATTTATATTATATATAATATATAATAT ATTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLCO3A1_chr15_91848708_92170903	92143357	A A	ATATATAT others(410): Show ATATATATATATTATATAATATATATATAAAATATATATATATTATATAA TATATATAAAATATATATATTATATTATATATAAAATATATATATTATAT TATATATAAAATATATATATTATATAATATATATAAAATATATATATTAT ATAATATATATAAAATATATATATTATATAATATATATATAAAATATATA TATTATATAATATATATATAAAATATATATATTATATATTATATAATATA TATATAAAATATATATAATATATAATATATGTAATATTATATATATTATA TATTATATATATTATATATTATATATATTATATATAATATATATAATATA TATAATATATATATTATATATAATATATATAATATATATAAAAAATATAT ATATTATATAATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0113 a0001c0006t0004g0113	1	187	0.0053	417	c.151 others(436): Show c.1513-3627_1513-3626insTATATATATATTATATAATATATATA TAAAATATATATATATTATATAATATATATAAAATATATATATTATATTA TATATAAAATATATATATTATATTATATATAAAATATATATATTATATAA TATATATAAAATATATATATTATATAATATATATAAAATATATATATTAT ATAATATATATATAAAATATATATATTATATAATATATATATAAAATATA TATATTATATATTATATAATATATATATAAAATATATATAATATATAATA TATGTAATATTATATATATTATATATTATATATATTATATATTATATATA TTATATATAATATATATAATATATATAATATATATATTATATATAATATA TATAATATATATAAAAAATATATATATTATATAATATATAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9			chr15	TogoVar
SMOC2_chr6_168436184_168672992	168594497	C C	CGAGCTCC others(410): Show CGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCG CCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATC GCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAG GATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCT AGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCAAGAGTATCTTTC TAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTT CTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTT TCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCA TCTTTCTAGAGGATCGCG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	146	0.0068	417	c.638 others(434): Show c.638-4295_638-4294insACGGGCATCTTTCTAGAGGATCGCCGAG CTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATCGCCGA GCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGATCT CCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGG ATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCAAGAGTATCTTTCTAGAG GATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGA GGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAG AGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTT CTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594497	C C	CGAGCTCC others(410): Show CGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCG CCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATC GCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAG GATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCT AGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGTATCTTTC TAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTT CTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTT TCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCA TCTTTCTAGAGGATCGCG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp1 HG01256.hp2 others(24): Show HG00609.hp2 HG01069.hp1 HG01256.hp2 HG01361.hp1 HG01978.hp1 HG02135.hp2 HG02572.hp2 HG02735.hp1 HG02809.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18960.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA19000.hp2 NA19012.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 a0001c0002t0007	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 others(24): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0003g0085 a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0011g0119 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0012 a0001c0002t0002g0054 a0001c0002t0002g0064 a0001c0002t0007g0016	27	172	0.1570	417	c.638 others(434): Show c.638-4295_638-4294insACGGGCATCTTTCTAGAGGATCGCCGAG CTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATCGCCGA GCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGATCT CCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGG ATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGTATCTTTCTAGAG GATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGA GGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAG AGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTT CTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(410): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGG GGGAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAA CGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAA GGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAAGGGGGAGGGG GGAGGGGGAAGGGGGAGGGGGGACGGGGGAGGGGAGATGGGGAGGGGGAG GGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0009 a0005c0006t0009	a0005c0006t0009g0178 a0005c0006t0009g0178	1	12	0.0833	417	c.34 others(426): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCATC TCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCC CCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(410): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAAGCG GGAACGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGAGGGGGAGGGGG GAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGG GAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAG CGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGG GAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGG GGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAG GGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	12	0.0833	417	c.34 others(426): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCC TCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCC CCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCT TCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCC TCCCCCGTTCCCGCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCACCT CCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTC CCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(410): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGG AGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGG AAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGG GGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGG GAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAGGGG GGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAG GGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	12	0.0833	417	c.34 others(426): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCATCTCCCC TCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCCTCC CCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCC TCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCC CCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCT CCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTC CCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar

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