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
COL26A1_chr7_101357875_101564024	101489663	TCCTTCCT others(82): Show TCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTT CATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02109.hp1 HG02486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0009 a0002c0004t0001 a0001c0001t0009 a0002c0004t0001	a0001c0001t0009g0168 a0002c0004t0001g0125 a0001c0001t0009g0168 a0002c0004t0001g0125	2	156	0.0128	-89	c.385 others(108): Show c.385+41877_385+41965delCCTTCCTTCCTTCCTTCCTTTCTTTC TTTCTTTCTGTCTTTCTTTCTTTCATTCTTTCTTTCTCTCTCTCTTTCTC TCTTTCTTTCTTG	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12			chr7	TogoVar
COLEC11_chr2_3590112_3649644	3640885	TCCCACGG others(82): Show TCCCACGGCGGACACCCACCCCCGTCACATCCCACGGCGGACACCCACCC CCGTCACATCCCACGGTGGACACCCACCCACCATGTAGAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01975.hp2 HG01081.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0216 a0001c0001t0001g0023 a0001c0001t0001g0216	2	376	0.0053	-89	c.328 others(104): Show c.328+562_328+650delCGGACACCCACCCCCGTCACATCCCACGGC GGACACCCACCCCCGTCACATCCCACGGTGGACACCCACCCACCATGTAG ACCCCACGG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC11_chr2_3590112_3649644	3640893	CGGACACC others(82): Show CGGACACCCACCCCCGTCACATCCCACGGCGGACACCCACCCCCGTCACA TCCCACGGTGGACACCCACCCACCATGTAGACCCCACGGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG02896.hp1 others(4): Show HG02055.hp1 HG02622.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0020 a0002c0005t0002g0179 a0002c0005t0002g0180 others(4): Show a0002c0005t0002g0020 a0002c0005t0002g0179 a0002c0005t0002g0180 a0002c0005t0002g0181 a0002c0005t0002g0209 a0002c0005t0002g0210 a0002c0005t0002g0344	7	374	0.0187	-89	c.328 others(104): Show c.328+575_328+663delCCGTCACATCCCACGGCGGACACCCACCCC CGTCACATCCCACGGTGGACACCCACCCACCATGTAGACCCCACGGTGGA CACCCACCC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240976374	AGTCTCTG others(82): Show AGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCT CTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTC	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0016 a0016	a0016c0061 a0016c0061	a0016c0061t0002 a0016c0061t0002	a0016c0061t0002g0294 a0016c0061t0002g0294	1	348	0.0029	-89	c.440 others(108): Show c.4402-6505_4402-6417delGTCTCTGGGGTAGGAGCCTCTGGAGC CCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240977949	AGTCTCTG others(82): Show AGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCT CTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTC	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0041 a0003c0003t0001g0041	1	348	0.0029	-89	c.440 others(108): Show c.4402-4930_4402-4842delGTCTCTGGGGTAGGAGCCTCAGGATC CCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31			chr2	TogoVar
CYP2C8_chr10_95031772_95074497	95049857	CTTGAGGA others(82): Show CTTGAGGAGTGGGGGGCTTGAATAGCTAGCAGCAATACCCAGGTACTATG TTGAGGGCTTTGGGTAAGTCTCTGAGGCTTACCGGCTTCA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01433.hp2 HG02055.hp2 others(7): Show HG01257.hp1 HG01433.hp2 HG02055.hp2 HG02486.hp2 HG02922.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 others(7): Show a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152	10	374	0.0267	-89	c.820 others(106): Show c.820-3995_820-3907delTGAAGCCGGTAAGCCTCAGAGACTTACC CAAAGCCCTCAACATAGTACCTGGGTATTGCTGCTAGCTATTCAAGCCCC CCACTCCTCAA	CYP2C8	ENSG00000138115.15	transcript	ENST00000371270.6	protein_coding	5/8			chr10	TogoVar
DACH1_chr13_71432966_71872204	71553362	CATATATC others(82): Show CATATATCCATATATGTATATTAGACATATATCCATATATGTATATTAGA CATATATCCATATATGTATATTAGACATATATCCATATAT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0013 a0003c0003t0013	a0003c0003t0013g0006 a0003c0003t0013g0006	1	100	0.0100	-89	c.157 others(108): Show c.1570+3573_1570+3661delATATATGGATATATGTCTAATATACA TATATGGATATATGTCTAATATACATATATGGATATATGTCTAATATACA TATATGGATATAT	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775528	TCTCCTAC others(82): Show TCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTC CTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02486.hp2 HG02559.hp1 others(4): Show HG00408.hp2 HG02486.hp2 HG02559.hp1 HG02922.hp1 HG03453.hp1 HG03579.hp1 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0154 a0001c0001t0002g0284 a0002c0002t0003g0021 others(3): Show a0001c0001t0002g0154 a0001c0001t0002g0284 a0002c0002t0003g0021 a0002c0002t0003g0179 a0002c0002t0003g0208 a0002c0002t0003g0236	7	405	0.0173	-89	c.363 others(106): Show c.363+1443_364-1495delGAGAATACTGTAGGAGAATACATGTAGG AGAATACTGTAGGAGAATACTGTAGGAGAATACATGTACTGTAGGAGAAT ACATGTAGGAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRSX_chrX_2214506_2505976	2276894	AGAGAGAA others(82): Show AGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAAC GAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02293.hp2 HG02698.hp1 HG01496.hp1 HG02293.hp2 HG02698.hp1	a0004 a0004	a0004c0004 a0004c0014 a0004c0004 a0004c0014	a0004c0004t0003 a0004c0014t0003 a0004c0004t0003 a0004c0014t0003	a0004c0004t0003g0010 a0004c0004t0003g0014 a0004c0014t0003g0040 a0004c0004t0003g0010 a0004c0004t0003g0014 a0004c0014t0003g0040	3	48	0.0625	-89	c.389 others(107): Show c.389-10036_389-9948delCTTCCCCCATTTCCTCCTCTTCCTTCT CTCTCCCTCTCTCGTTTGCCCTCCCTCTCTCTCCCTGTTCCCTCTCCATC TCTCTTTCTCTC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DIP2C_chr10_269201_694668	679154	CCCCGCAT others(82): Show CCCCGCATCCGTCCTCCCCGCGCCCATGCTCCCCACACCCAGGCTCCCCG CGCCCATCTCTACTCCCCACACCCAGGCTCCCCGCGCCCG	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0084 a0001c0002t0003g0084	1	88	0.0114	-89	c.85+ others(106): Show c.85+10251_85+10339delCGGGCGCGGGGAGCCTGGGTGTGGGGAG TAGAGATGGGCGCGGGGAGCCTGGGTGTGGGGAGCATGGGCGCGGGGAGG ACGGATGCGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAH9_chr17_11593470_11974748	11694703	TCTCTCTC others(82): Show TCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0016 a0016	a0016c0011 a0016c0011	a0016c0011t0001 a0016c0011t0001	a0016c0011t0001g0121 a0016c0011t0001g0121	1	168	0.0060	-89	c.487 others(106): Show c.4872+257_4872+345delCTCTCTCTCTCTCTCTCTCTCTCTTTCT CTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT TTCTTTCTTTC	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68			chr17	TogoVar
DPP10_chr2_114437641_115850780	114834607	CCATATCT others(82): Show CCATATCTAAGCACCTATGTATATATAAGCCATATCTACACACCTATGTA TATATATAGGCCATATCTACACACCTATGTATATATAAGA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03195.hp2 HG02280.hp1 HG03195.hp2	a0002 a0005 a0002 a0005	a0002c0001 a0005c0008 a0002c0001 a0005c0008	a0002c0001t0001 a0005c0008t0010 a0002c0001t0001 a0005c0008t0010	a0002c0001t0001g0040 a0005c0008t0010g0036 a0002c0001t0001g0040 a0005c0008t0010g0036	2	56	0.0357	-89	c.60+ others(108): Show c.60+391778_60+391866delAGCACCTATGTATATATAAGCCATAT CTACACACCTATGTATATATATAGGCCATATCTACACACCTATGTATATA TAAGACATATCTA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP6_chr7_154047398_154899285	154817741	AGGGTGAT others(82): Show AGGGTGATGTCATGAATGTCCTCAGTGATTGATGGATGATGTCATGAATG TCCTGAGTGATTAATGACATGAGCATCATGAGTGATTGAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01433.hp2 HG02280.hp2 others(7): Show HG00673.hp1 HG01433.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02965.hp1 HG03453.hp1 HG03579.hp1 HG03579.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0016 a0001c0018 others(6): Show a0001c0003 a0001c0016 a0001c0018 a0002c0004 a0002c0008 a0002c0009 a0002c0014 a0002c0022 a0002c0028	a0001c0003t0008 a0001c0016t0013 a0001c0018t0009 others(7): Show a0001c0003t0008 a0001c0016t0013 a0001c0018t0009 a0002c0004t0004 a0002c0008t0006 a0002c0008t0012 a0002c0009t0004 a0002c0014t0025 a0002c0022t0023 a0002c0028t0002	a0001c0003t0008g0025 a0001c0016t0013g0012 a0001c0018t0009g0023 others(7): Show a0001c0003t0008g0025 a0001c0016t0013g0012 a0001c0018t0009g0023 a0002c0004t0004g0008 a0002c0008t0006g0034 a0002c0008t0012g0001 a0002c0009t0004g0004 a0002c0014t0025g0029 a0002c0022t0023g0027 a0002c0028t0002g0016	10	38	0.2632	-89	c.166 others(110): Show c.1666+10651_1666+10739delCAGTGATTGATGGATGATGTCATG AATGTCCTGAGTGATTAATGACATGAGCATCATGAGTGATTGATGGGTGA TGTCATGAATGTCCT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DUT_chr15_48326429_48348373	48348222	TTTTTTTT others(82): Show TTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCAGGCT GGAGTGCAGTGGCGTAATCTCAGTTCACTGCAATCTCTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	-89	c.61 others(100): Show c.6145_*6233delTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCG CTCTGTTGCCAGGCTGGAGTGCAGTGGCGTAATCTCAGTTCACTGCAATC TCTGC	DUT	ENSG00000128951.14	transcript	ENST00000331200.8	protein_coding		4850		chr15	TogoVar
DYSF_chr2_71448561_71691763	71691503	CACACACA others(82): Show CACACACACACACACCATTTTCTGCTCCTTTTCCAGGGCTGTGTGGATAG TCCAGGATGGGGTGATGTCTGCTGGTGTTTTTGAGAGATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02630.hp1 HG02818.hp1 HG01884.hp2 HG02630.hp1 HG02818.hp1	a0001 a0010 a0014 a0001 a0010 a0014	a0001c0010 a0010c0032 a0014c0059 a0001c0010 a0010c0032 a0014c0059	a0001c0010t0004 a0010c0032t0001 a0014c0059t0001 a0001c0010t0004 a0010c0032t0001 a0014c0059t0001	a0001c0010t0004g0033 a0010c0032t0001g0191 a0014c0059t0001g0093 a0001c0010t0004g0033 a0010c0032t0001g0191 a0014c0059t0001g0093	3	190	0.0158	-89	c.50 others(100): Show c.5012_*5100delACACACACACACACCATTTTCTGCTCCTTTTCCA GGGCTGTGTGGATAGTCCAGGATGGGGTGATGTCTGCTGGTGTTTTTGAG AGATT	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding		4741		chr2	TogoVar
DYSF_chr2_71461699_71691763	71691503	CACACACA others(82): Show CACACACACACACACCATTTTCTGCTCCTTTTCCAGGGCTGTGTGGATAG TCCAGGATGGGGTGATGTCTGCTGGTGTTTTTGAGAGATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02630.hp1 HG02818.hp1 others(1): Show HG01884.hp1 HG02630.hp1 HG02818.hp1 HG03130.hp1	a0001 a0011 a0015 others(1): Show a0001 a0011 a0015 a0021	a0001c0010 a0011c0033 a0015c0062 others(1): Show a0001c0010 a0011c0033 a0015c0062 a0021c0059	a0001c0010t0005 a0011c0033t0002 a0015c0062t0001 others(1): Show a0001c0010t0005 a0011c0033t0002 a0015c0062t0001 a0021c0059t0005	a0001c0010t0005g0086 a0011c0033t0002g0152 a0015c0062t0001g0045 others(1): Show a0001c0010t0005g0086 a0011c0033t0002g0152 a0015c0062t0001g0045 a0021c0059t0005g0118	4	206	0.0194	-89	c.50 others(100): Show c.5012_*5100delACACACACACACACCATTTTCTGCTCCTTTTCCA GGGCTGTGTGGATAGTCCAGGATGGGGTGATGTCTGCTGGTGTTTTTGAG AGATT	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding		4741		chr2	TogoVar
EIF4G1_chr3_184309606_184340353	184314478	GGCAAATC others(82): Show GGCAAATCCCATGTGCTCGGCGGCGCAGATCGCCCGGCGCGGCTCCGCCC CCTGCGCCGGTCACGTGGGGGCGCCGGCTGCGCCTGCGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	382	0.0026	-89	c.-28 others(98): Show c.-287_-199delGCAAATCCCATGTGCTCGGCGGCGCAGATCGCCCGG CGCGGCTCCGCCCCCTGCGCCGGTCACGTGGGGGCGCCGGCTGCGCCTGC GGA	EIF4G1	ENSG00000114867.22	transcript	ENST00000346169.7	protein_coding		127		chr3	TogoVar
ELOVL5_chr6_53262404_53353950	53306230	AGGGGAGA others(82): Show AGGGGAGAGGGAGAGGGGAGAGGGGAGAGGGAGAGGGGAGAGGGGAGAGG GGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	202	0.0050	-89	c.-8- others(106): Show c.-8-10612_-8-10524delCTCTCCCTCTCCCCTCTCCCCTCTCCCC TCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCTCTCCCCTCTCCCCTC TCCCTCTCCCC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
EML1_chr14_99788413_99947060	99824439	GTATGTCA others(82): Show GTATGTCAGTAATTGGCCTCGGAAATGCAAATCAAAATCACAATAATACA GCATGGATCCCTGCATACACATACTGTGTACACACATATA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0141 a0002c0001t0002g0141	1	286	0.0035	-89	c.68- others(106): Show c.68-26394_68-26306delGGAAATGCAAATCAAAATCACAATAATA CAGCATGGATCCCTGCATACACATACTGTGTACACACATATATATGTCAG TAATTGGCCTC	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENOSF1_chr18_665318_717630	667233	AGATGGAG others(82): Show AGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGGA TGGTGATGGAGATGGTGATGGTGATGGTGATGGAGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	272	0.0037	-89	c.69 others(100): Show c.6983_*7071delACCATCTCCATCACCATCACCATCACCATCTCCA TCACCATCCCATCACCATCACCATCTCCATCACCATCACCATCACCATCT CCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3084		chr18	TogoVar
ENOSF1_chr18_665318_717630	667257	TGATGGAG others(82): Show TGATGGAGATGGTGATGGTGATGGGATGGTGATGGAGATGGTGATGGTGA TGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	382	0.0026	-89	c.69 others(100): Show c.6959_*7047delTCCATCACCATCTCCATCACCATCACCATCTCCA TCACCATCACCATCACCATCTCCATCACCATCCCATCACCATCACCATCT CCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3060		chr18	TogoVar
ENOSF1_chr18_665318_717630	667263	AGATGGTG others(82): Show AGATGGTGATGGTGATGGGATGGTGATGGAGATGGTGATGGTGATGGTGA TGGAGATGGTGATGGTGATGGAGATGGTGATGGAGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0371 a0003c0004t0003g0371	1	250	0.0040	-89	c.69 others(100): Show c.6953_*7041delACCATCTCCATCACCATCTCCATCACCATCACCA TCTCCATCACCATCACCATCACCATCTCCATCACCATCCCATCACCATCA CCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3054		chr18	TogoVar
ERC2_chr3_55503311_56473467	55720158	TTCTTCTT others(82): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	1	71	0.0141	-89	c.271 others(110): Show c.2712+14524_2712+14612delGAGAGAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ESR1_chr6_151802682_152108274	151899548	GGACGGGG others(82): Show GGACGGGGCGGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTCCCTCCCG GACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCA	G G	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0223 a0001c0002t0005g0223	1	247	0.0040	-89	c.760 others(108): Show c.760+18785_760+18873delCGGCTGGCCGGGCGGGGAGCTGACCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCAC TTCCCAGACGGGG	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM210A_chr18_13658347_13731558	13675576	ATTTCCAG others(82): Show ATTTCCAGTTTCCTGATTATTAACATTTCTGAGCCCTGGCCTCTTTATTT CCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01952.hp2 HG02622.hp2 others(8): Show HG01884.hp2 HG01952.hp2 HG02622.hp2 HG02717.hp1 HG02897.hp1 HG02897.hp2 HG03453.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 others(1): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0035	a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0271 others(8): Show a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0271 a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0006g0275 a0001c0001t0009g0035 a0001c0001t0009g0044 a0001c0001t0014g0269 a0001c0001t0035g0038	11	324	0.0340	-89	c.474 others(106): Show c.474-3692_474-3604delAGAAGCCAGGGCTCAGGAATGTTAATAA TCAGGAAACTGGAAATAAAGAGGCCAGGGCTCAGAAATGTTAATAATCAG GAAACTGGAAA	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM210A_chr18_13658347_13731558	13675621	TATTTCCA others(82): Show TATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTATT TCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTC	T T	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0132 a0001c0001t0023g0132	1	323	0.0031	-89	c.474 others(106): Show c.474-3737_474-3649delGAAGTCGGGGCTCAGGAATGTTAATAAT CAGGAAACTGGAAATAAAGAAGCCAGGGCTCAGGAATGTTAATAATCAGG AAACTGGAAAT	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM210A_chr18_13658347_13731558	13676168	CGACTTCA others(82): Show CGACTTCATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGGCTTC TTTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp2 HG02040.hp2 others(12): Show HG00741.hp1 HG01891.hp2 HG02040.hp2 HG02486.hp1 HG02615.hp2 HG02630.hp2 HG02809.hp1 HG03098.hp2 HG03139.hp1 HG03486.hp2 HG03540.hp1 NA18522.hp2 NA18747.hp1 NA18968.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 others(12): Show a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0007g0045 a0001c0001t0007g0046 a0001c0001t0007g0047 a0001c0001t0007g0048 a0001c0001t0007g0049 a0001c0001t0007g0050 a0001c0001t0007g0051 a0001c0001t0007g0052 a0001c0001t0007g0053 a0001c0001t0007g0054	15	303	0.0495	-89	c.474 others(106): Show c.474-4284_474-4196delAGGGCTCAGGAATGTTAATAATCAGGAA ACTGGAAATAAAGAAGCCGGGGCTCAGGAATGTTAATAATCAGGAAACTG GAAATGAAGTC	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FASTKD2_chr2_206760606_206801189	206780025	CTCCCCAT others(82): Show CTCCCCATACTTTGTTATTGATGTGACAGTTTACATCTTTTTATATTGTA TATCCATTAGCAAATTTTTATAGTTACAGTTATTCTTGAT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0183 a0001c0001t0014g0183	1	392	0.0026	-89	c.142 others(108): Show c.1427+5629_1427+5717delTCCCCATACTTTGTTATTGATGTGAC AGTTTACATCTTTTTATATTGTATATCCATTAGCAAATTTTTATAGTTAC AGTTATTCTTGAT	FASTKD2	ENSG00000118246.14	transcript	ENST00000402774.8	protein_coding	7/11			chr2	TogoVar
FBRSL1_chr12_132485151_132590188	132568018	AGGCCAGC others(82): Show AGGCCAGCAACCCTCTCCAGAGGGGGTAGCCCCGGCGTCTTAGGGGCCTT CGTAACCTGTGGCTGTGAGCTGTGGGGCGGGGTGTCCACG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01934.hp2 HG02723.hp1 others(1): Show HG01175.hp2 HG01934.hp2 HG02723.hp1 NA19043.hp2	a0004 a0008 a0034 a0004 a0008 a0034	a0004c0062 a0008c0027 a0034c0043 a0004c0062 a0008c0027 a0034c0043	a0004c0062t0041 a0008c0027t0008 a0008c0027t0018 others(1): Show a0004c0062t0041 a0008c0027t0008 a0008c0027t0018 a0034c0043t0008	a0004c0062t0041g0139 a0008c0027t0008g0180 a0008c0027t0018g0172 others(1): Show a0004c0062t0041g0139 a0008c0027t0008g0180 a0008c0027t0018g0172 a0034c0043t0008g0174	4	346	0.0116	-89	c.691 others(104): Show c.691+517_691+605delGTAGCCCCGGCGTCTTAGGGGCCTTCGTAA CCTGTGGCTGTGAGCTGTGGGGCGGGGTGTCCACGGGCCAGCAACCCTCT CCAGAGGGG	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132587854	CGTGAGGG others(82): Show CGTGAGGGAGCACCCTCCTGGGAGCACTCTGTGAGGAGGGGCACCTTCCT GGGAGCACTCTGTGAGGGAGCACCCTCCTGGGAGCACTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02723.hp2 others(4): Show HG02615.hp1 HG02615.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG03098.hp1 HG03195.hp1	a0001 a0004 a0001 a0004	a0001c0011 a0004c0030 a0001c0011 a0004c0030	a0001c0011t0012 a0001c0011t0027 a0001c0011t0028 others(3): Show a0001c0011t0012 a0001c0011t0027 a0001c0011t0028 a0001c0011t0032 a0001c0011t0035 a0004c0030t0012	a0001c0011t0012g0143 a0001c0011t0027g0336 a0001c0011t0028g0335 others(4): Show a0001c0011t0012g0143 a0001c0011t0027g0336 a0001c0011t0028g0335 a0001c0011t0032g0236 a0001c0011t0035g0337 a0004c0030t0012g0142 a0004c0030t0012g0144	7	346	0.0202	-89	c.40 others(100): Show c.4077_*4165delGTGAGGGAGCACCCTCCTGGGAGCACTCTGTGAG GAGGGGCACCTTCCTGGGAGCACTCTGTGAGGGAGCACCCTCCTGGGAGC ACTCT	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding		2667		chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132587909	CACTCTGT others(82): Show CACTCTGTGAGGGAGCACCCTCCTGGGAGCACTCTGTGAGGGAGCACCCT CCTGGGAGCACTCTGTGAGGAGGGGCACCTTCCTGGGAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00733.hp1 others(51): Show HG00099.hp1 HG00558.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01168.hp2 HG01175.hp2 HG01346.hp1 HG01516.hp1 HG01952.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02109.hp1 HG02165.hp2 HG02300.hp1 HG02602.hp1 HG02647.hp2 HG02895.hp2 HG03139.hp1 HG03195.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp2 NA18942.hp1 NA18950.hp2 NA18954.hp1 NA18967.hp1 NA18969.hp2 NA18975.hp1 NA18986.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19010.hp1 NA19043.hp2 NA19064.hp1 NA19065.hp1 NA19087.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0004 others(17): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0010 a0012 a0015 a0017 a0019 a0022 a0023 a0025 a0028 a0040 a0041 a0043 a0046	a0001c0003 a0001c0005 a0001c0012 others(20): Show a0001c0003 a0001c0005 a0001c0012 a0002c0004 a0004c0062 a0005c0053 a0006c0013 a0006c0025 a0007c0022 a0008c0027 a0010c0010 a0012c0036 a0015c0017 a0017c0019 a0019c0018 a0022c0057 a0023c0037 a0025c0039 a0028c0049 a0040c0084 a0041c0082 a0043c0083 a0046c0076	a0001c0003t0001 a0001c0005t0005 a0001c0005t0008 others(25): Show a0001c0003t0001 a0001c0005t0005 a0001c0005t0008 a0001c0012t0006 a0002c0004t0001 a0002c0004t0002 a0004c0062t0041 a0005c0053t0005 a0006c0013t0004 a0006c0025t0009 a0007c0022t0002 a0008c0027t0008 a0010c0010t0004 a0010c0010t0009 a0012c0036t0002 a0015c0017t0004 a0015c0017t0006 a0017c0019t0008 a0019c0018t0008 a0022c0057t0008 a0023c0037t0011 a0025c0039t0004 a0025c0039t0017 a0028c0049t0004 a0040c0084t0024 a0041c0082t0004 a0043c0083t0004 a0046c0076t0009	a0001c0003t0001g0129 a0001c0005t0005g0052 a0001c0005t0005g0075 others(51): Show a0001c0003t0001g0129 a0001c0005t0005g0052 a0001c0005t0005g0075 a0001c0005t0005g0076 a0001c0005t0005g0091 a0001c0005t0005g0264 a0001c0005t0008g0122 a0001c0012t0006g0085 a0002c0004t0001g0101 a0002c0004t0001g0119 a0002c0004t0002g0102 a0002c0004t0002g0103 a0002c0004t0002g0104 a0002c0004t0002g0114 a0002c0004t0002g0116 a0002c0004t0002g0117 a0002c0004t0002g0118 a0002c0004t0002g0130 a0002c0004t0002g0134 a0002c0004t0002g0136 a0002c0004t0002g0137 a0002c0004t0002g0138 a0004c0062t0041g0139 a0005c0053t0005g0077 a0006c0013t0004g0314 a0006c0013t0004g0319 a0006c0013t0004g0322 a0006c0013t0004g0324 a0006c0013t0004g0326 a0006c0025t0009g0284 a0007c0022t0002g0115 a0007c0022t0002g0121 a0007c0022t0002g0131 a0008c0027t0008g0180 a0010c0010t0004g0234 a0010c0010t0004g0316 a0010c0010t0004g0325 a0010c0010t0009g0329 a0012c0036t0002g0135 a0015c0017t0004g0330 a0015c0017t0004g0332 a0015c0017t0004g0333 a0015c0017t0006g0331 a0017c0019t0008g0310 a0019c0018t0008g0002 a0022c0057t0008g0067 a0023c0037t0011g0073 a0025c0039t0004g0321 a0025c0039t0017g0328 a0028c0049t0004g0222 a0040c0084t0024g0317 a0041c0082t0004g0315 a0043c0083t0004g0323 a0046c0076t0009g0283	54	346	0.1561	-89	c.41 others(100): Show c.4132_*4220delACTCTGTGAGGGAGCACCCTCCTGGGAGCACTCT GTGAGGGAGCACCCTCCTGGGAGCACTCTGTGAGGAGGGGCACCTTCCTG GGAGT	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding		2722		chr12	TogoVar
FRK_chr6_115926149_116065891	115958676	GAAAGAAA others(82): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0213 a0001c0001t0008g0213	1	269	0.0037	-89	c.800 others(106): Show c.800-2155_800-2067delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTT	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	4/7			chr6	TogoVar
FSHR_chr2_48957157_49159515	49127806	TTCTTCTT others(82): Show TTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	345	0.0029	-89	c.152 others(108): Show c.152+26371_152+26459delGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAG AAGAAGAAGAAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9			chr2	TogoVar
FUT2_chr19_48690971_48710951	48707606	TGGTGCAC others(82): Show TGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGTAGAATC ACTTGAACCCAGGAGGTGAAGTTTGCAATGAACTGACATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	-89	c.36 others(100): Show c.3619_*3707delGGTGCACACCTGTAATCCCAGCTACTCGGGAGGC TGAGTCAGTAGAATCACTTGAACCCAGGAGGTGAAGTTTGCAATGAACTG ACATA	FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding		1656		chr19	TogoVar
GABRG3_chr15_26966181_27546984	27388274	GGTAAGGA others(82): Show GGTAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAAGGGAGGGAGGGAAAAG AAGGAAGGAAGGAAAGGTGGGAGGGAGGGTAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0060 a0001c0004t0011g0060	1	91	0.0110	-89	c.574 others(108): Show c.574+59388_574+59476delTAAGGAAGGAAGGAAGAAAAGAAGGA AGGAAAGGGAGGGAGGGAAAAGAAGGAAGGAAGGAAAGGTGGGAGGGAGG GTAAGGAAGGAAG	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRR2_chr6_89249464_89320299	89292371	TATATATA others(82): Show TATATATATCAGATATATATCGTATCTCTGATATATATATCAGATATATC GTATCTCTGATATATATATCAGATATATATCGTATCTCTG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	364	0.0027	-89	c.220 others(106): Show c.220+7299_220+7387delCAGAGATACGATATATATCTGATATATA TATCAGAGATACGATATATCTGATATATATATCAGAGATACGATATATAT CTGATATATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GAK_chr4_844277_937316	856278	CCTCACCA others(82): Show CCTCACCACAGCTGCTCACCCCTGCTCACCACAGCTGCTCACACCTGCTC ACCACAGCTGCTCACACCTGCTCACACCTGCTCACCACAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02055.hp2 others(14): Show HG01243.hp2 HG01884.hp2 HG02055.hp2 HG02145.hp2 HG02280.hp2 HG02572.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03471.hp1 HG03516.hp2 NA19043.hp1 NA20129.hp2 NA21309.hp1	a0001 a0006 a0019 a0001 a0006 a0019	a0001c0002 a0006c0013 a0019c0040 a0001c0002 a0006c0013 a0019c0040	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0006c0013t0001 a0019c0040t0001	a0001c0002t0001g0018 a0001c0002t0001g0171 a0001c0002t0001g0172 others(14): Show a0001c0002t0001g0018 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0002g0170 a0001c0002t0003g0259 a0001c0002t0003g0375 a0006c0013t0001g0266 a0006c0013t0001g0270 a0006c0013t0001g0271 a0006c0013t0001g0279 a0019c0040t0001g0268	17	388	0.0438	-89	c.328 others(108): Show c.3283+3239_3283+3327delCTGTGGTGAGCAGGTGTGAGCAGGTG TGAGCAGCTGTGGTGAGCAGGTGTGAGCAGCTGTGGTGAGCAGGGGTGAG CAGCTGTGGTGAG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	24/27			chr4	TogoVar
GAK_chr4_844277_937316	904240	GGGCGGCT others(82): Show GGGCGGCTCCTAACCGAGCGGGACCCGCACACAGAGGCCTTGGCAGCCGC GTGTGGAGGGAGCCACGACCTTGTGGTCCCTGTGGATGAT	G G	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0346	1	388	0.0026	-89	c.525 others(104): Show c.525+308_525+396delATCATCCACAGGGACCACAAGGTCGTGGCT CCCTCCACACGCGGCTGCCAAGGCCTCTGTGTGCGGGTCCCGCTCGGTTA GGAGCCGCC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	5/27			chr4	TogoVar
GGT1_chr22_24598193_24633996	24605547	TTATATAT others(82): Show TTATATATTATATAATATTATATAATGTGTATTATATATATAATATTATA TAATGTGTATTATATATATAATATTATATAATGTGTATTA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0253 a0002c0004t0010g0253	1	424	0.0024	-89	c.-42 others(108): Show c.-429+2028_-429+2116delTATATAATATTATATAATGTGTATTA TATATATAATATTATATAATGTGTATTATATATATAATATTATATAATGT GTATTATATATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GPALPP1_chr13_44984538_45035305	45024173	GTGTGTGT others(82): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGACTGAGTC TCAATCTTCAAGTGTTTTTGCTTGGTATCCCCTAAAACTC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02040.hp2 HG03834.hp1 others(3): Show HG00408.hp2 HG02040.hp2 HG03834.hp1 NA18961.hp2 NA18981.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0221 others(2): Show a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0221 a0001c0001t0003g0226 a0001c0001t0003g0236	6	346	0.0173	-89	c.805 others(106): Show c.805-3576_805-3488delTTTGAGACTGAGTCTCAATCTTCAAGTG TTTTTGCTTGGTATCCCCTAAAACTCTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGT	GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPER1_chr7_1083113_1098810	1090135	AAAAACAA others(82): Show AAAAACAACTCAAACCCATTTTGAAGTGTTAGTTTACTCCAGGGCACCAG CACCATCTGGGCCAGGTAATTCTCTGCTGGGCTTGGGCAC	A A	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	444	0.0023	-89	c.-32 others(108): Show c.-322-1271_-322-1183delAAAACAACTCAAACCCATTTTGAAGT GTTAGTTTACTCCAGGGCACCAGCACCATCTGGGCCAGGTAATTCTCTGC TGGGCTTGGGCAC	GPER1	ENSG00000164850.16	transcript	ENST00000397088.4	protein_coding	1/1			chr7	TogoVar
GSG1L_chr16_27782528_28068714	27888476	CTCTTTCC others(82): Show CTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG02145.hp1 others(9): Show HG00099.hp1 HG00544.hp2 HG02145.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02630.hp1 HG04184.hp1 NA18952.hp2 NA18963.hp1 NA18998.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0038 a0001c0001t0041 a0001c0001t0045 a0001c0002t0037 a0001c0002t0046 a0002c0003t0003	a0001c0001t0001g0035 a0001c0001t0002g0179 a0001c0001t0002g0191 others(9): Show a0001c0001t0001g0035 a0001c0001t0002g0179 a0001c0001t0002g0191 a0001c0001t0002g0220 a0001c0001t0003g0127 a0001c0001t0008g0219 a0001c0001t0038g0199 a0001c0001t0041g0165 a0001c0001t0045g0175 a0001c0002t0037g0018 a0001c0002t0046g0103 a0002c0003t0003g0236	12	189	0.0635	-89	c.398 others(106): Show c.398-3927_398-3839delAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGGAAAGA	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
HGFAC_chr4_3436968_3454486	3440598	TCCCAGCA others(82): Show TCCCAGCACCCACCATGCCTCCACATTCACCGTGCCCCCAGGGCCCACCA TGACCTCCCCCCCAACCCCCAACCCCCCATTCACCGTGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG00621.hp2 others(96): Show HG00280.hp1 HG00609.hp2 HG00621.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18945.hp2 NA18946.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18966.hp2 NA18972.hp1 NA18977.hp1 NA18982.hp1 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19083.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0008c0012	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0011t0001 a0008c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0002t0001g0010 a0001c0003t0001g0003 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0033 a0001c0003t0001g0038 a0001c0011t0001g0003 a0008c0012t0001g0004	99	450	0.2200	-89	c.-14 others(100): Show c.-1403_-1315delCCCAGCACCCACCATGCCTCCACATTCACCGTGC CCCCAGGGCCCACCATGACCTCCCCCCCAACCCCCAACCCCCCATTCACC GTGCC	HGFAC	ENSG00000109758.9	transcript	ENST00000382774.8	protein_coding		1369		chr4	TogoVar
HHAT_chr1_210323902_210681290	210389084	ACATAAAA others(82): Show ACATAAAACTGAGTAATTTTATAAAGAAAATGAACTTATTTAGTAATTTA TGAAGAAAAGGAATTTATACAGTTATGGAGGCTGGGAAGT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp2 HG01081.hp1 others(9): Show HG00733.hp2 HG01074.hp2 HG01081.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01981.hp1 HG02300.hp2 NA18998.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0098 others(9): Show a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0117 a0001c0001t0001g0150 a0001c0001t0001g0185 a0001c0001t0001g0248 a0001c0001t0002g0086 a0001c0001t0002g0105 a0001c0001t0003g0097 a0001c0001t0003g0103 a0001c0001t0003g0254	12	266	0.0451	-89	c.273 others(106): Show c.273+1594_273+1682delATAAAACTGAGTAATTTTATAAAGAAAA TGAACTTATTTAGTAATTTATGAAGAAAAGGAATTTATACAGTTATGGAG GCTGGGAAGTC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMOX1_chr22_35376096_35399207	35389306	TCTTTCTT others(82): Show TCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp2 NA19240.hp1 HG01884.hp1 HG02451.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0001g0012 a0001c0001t0001g0051	3	380	0.0079	-89	c.637 others(104): Show c.637-542_637-454delCTTTCTTTCTTTCTTTCTTCTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCT TTCTTTCTT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
HMOX1_chr22_35376096_35399207	35389326	CTTTCTTT others(82): Show CTTTCTTTCTTTCTTCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0074 a0001c0003t0001g0074	1	379	0.0026	-89	c.637 others(104): Show c.637-537_637-449delTTTCTTTCTTTCTTCTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTT TCTTTCTTT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4			chr22	TogoVar
HOXB5_chr17_48586257_48598779	48595906	TTTCTTCT others(82): Show TTTCTTCTGAGGCTCCTCTTCTTACTTCTAGGTAGTATGTGCTCCTTCCA GTGGCTTTGGGGAGGGGGTGGGAGAGACGACAGGTCTGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	412	0.0024	-89	c.-23 others(100): Show c.-2313_-2225delCCCAGACCTGTCGTCTCTCCCACCCCCTCCCCAA AGCCACTGGAAGGAGCACATACTACCTAGAAGTAAGAAGAGGAGCCTCAG AAGAA	HOXB5	ENSG00000120075.6	transcript	ENST00000239151.6	protein_coding		2128		chr17	TogoVar
IGF2_chr11_2124117_2144389	2125404	GTAAGTGG others(82): Show GTAAGTGGGTAGATGGACAGATGAGTAGACAGATGACTGGGGGGTGGATG GAGGGCGAGTGGATGGATGGATGAGTGGGTGAGTGAGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02647.hp2 HG02965.hp1 others(9): Show HG02559.hp1 HG02647.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03471.hp2 HG06807.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0038 a0001c0001t0059 others(7): Show a0001c0001t0037 a0001c0001t0038 a0001c0001t0059 a0001c0001t0115 a0001c0001t0116 a0001c0001t0134 a0001c0001t0135 a0001c0001t0149 a0001c0001t0162 a0001c0001t0188	a0001c0001t0037g0024 a0001c0001t0038g0152 a0001c0001t0038g0174 others(8): Show a0001c0001t0037g0024 a0001c0001t0038g0152 a0001c0001t0038g0174 a0001c0001t0059g0042 a0001c0001t0115g0127 a0001c0001t0116g0131 a0001c0001t0134g0190 a0001c0001t0135g0175 a0001c0001t0149g0160 a0001c0001t0162g0218 a0001c0001t0188g0276	12	386	0.0311	-89	c.74 others(100): Show c.7494_*7582delACTCTCACTCACCCACTCATCCATCCATCCACTC GCCCTCCATCCACCCCCCAGTCATCTGTCTACTCATCTGTCCATCTACCC ACTTA	IGF2	ENSG00000167244.22	transcript	ENST00000416167.7	protein_coding		3712		chr11	TogoVar
IKZF3_chr17_39752718_39869312	39850159	TACTATAT others(82): Show TACTATATGTATATATACTATATAGCATATTATGTATGTATATATACTAT ATAACATATTATGTATGTATATATAATATATAGTATATAC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	254	0.0039	-89	c.7+1 others(104): Show c.7+13872_7+13960delGTATATACTATATATTATATATACATACAT AATATGTTATATAGTATATATACATACATAATATGCTATATAGTATATAT ACATATAGT	IKZF3	ENSG00000161405.17	transcript	ENST00000346872.8	protein_coding	1/7			chr17	TogoVar
IL3RA_chrX_1331785_1387689	1366237	GGGTGCGC others(82): Show GGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGAGCCGGGTG CGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGAGCC	G G	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	113	0.0088	-89	c.874 others(105): Show c.874+988_874+1076delTGCGCGGGGTGAGCCGGGTGCGCGGGGTG AGCCGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCG GGTGAGCCGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar

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