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
COL21A1_chr6_56051590_56252580	56098422	A A	AATATATA others(387): Show AATATATATATAAATATATATAAATATATAAATATATATATAAATATATA TAAATATATAAATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATAAATATATATATAAATATATATAAATATATAAA TATATATATAAATATATATAAATATATAAATATATATATAAATATATAAA TATATAAATATATATGTAAATATATAAATATATAAATATATATGTAAATA TATAAATATATAAATATATATGTAAATATATAAATATATATAAATATATA TGTAAATATATATAAATATATAAATATATATAAATACATATGTAAATATA TAAATATATATAAATATATAAATATATATAGATATATATGTAAAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0100 a0002c0008t0001g0100	1	93	0.0108	394	c.181 others(413): Show c.1812+3049_1812+3050insATTTACATATATATCTATATATATTT ATATATTTATATATATTTATATATTTACATATGTATTTATATATATTTAT ATATTTATATATATTTACATATATATTTATATATATTTATATATTTACAT ATATATTTATATATTTATATATTTACATATATATTTATATATTTATATAT TTACATATATATTTATATATTTATATATTTATATATATATTTATATATTT ATATATATTTATATATATATTTATATATTTATATATATTTATATATATAT TTATATATTTATATATATTTATATATATATTTATATATTTATATATATTT ATATATATTTATATATTTATATATATTTATATATATATTTATATATTTAT ATATATTTATATATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A3_chr2_227159624_227319792	227203424	T T	TGTGTGTA others(387): Show TGTGTGTATATGTGTATATACACATACATGTGTGTATATGTGTATATACA CATACACATACATGTGTGTATATGTGTATATACACATACACATACATGTG TGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTATATA CACATACACATACATGTGTGTATATGTGTATATACACATACACATACATG TGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTATA TACACATACACATACATGTGTGTATATGTGTATATACACATACACATACA TGTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTA TATACACATACACATATATGTGTGTATATGTGTATATACACATAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0019 a0017c0019t0019	a0017c0019t0019g0099 a0017c0019t0019g0099	1	313	0.0032	394	c.88- others(411): Show c.88-34544_88-34543insGTGTGTATATGTGTATATACACATACAT GTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTAT ATACACATACACATACATGTGTGTATATGTGTATATACACATACACATAC ATGTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGT ATATACACATACACATACATGTGTGTATATGTGTATATACACATACACAT ACATGTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGT GTATATACACATACACATACATGTGTGTATATGTGTATATACACATACAC ATACATGTGTGTATATGTGTATATACACATACACATATATGTGTGTATAT GTGTATATACACATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203424	T T	TGTGTGTA others(387): Show TGTGTGTATATGTGTATATACACATACATGTGTGTATATGTGTATATACA CATACACATACATGTGTGTATATGTGTATATACACATACACATACATGTG TGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTATATA CACATACACATACATGTGTGTATATGTGTATATACACATACACATACATG TGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTATA TACACATACACATATATGTGTGTATATGTGTATATACACATACACATATA TGTGTGTATATGTGTATATACACATACACATATATGTGTGTATATGTGTA TATACACATACACATATATGTGTGTATATGTGTATATACACATAC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0098 a0005c0005t0001g0098	1	313	0.0032	394	c.88- others(411): Show c.88-34544_88-34543insGTGTGTATATGTGTATATACACATACAT GTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTAT ATACACATACACATACATGTGTGTATATGTGTATATACACATACACATAC ATGTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGT ATATACACATACACATACATGTGTGTATATGTGTATATACACATACACAT ACATGTGTGTATATGTGTATATACACATACACATATATGTGTGTATATGT GTATATACACATACACATATATGTGTGTATATGTGTATATACACATACAC ATATATGTGTGTATATGTGTATATACACATACACATATATGTGTGTATAT GTGTATATACACATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(387): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0229 a0001c0001t0011g0229	1	177	0.0056	394	c.925 others(409): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGAAGA others(387): Show TGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGGATCATAGGGGA GACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTG TGAGGATCATGGGGGGATGTGTGAGGATCATAGAGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGG ACATGTGAGGATCATGGGGGACATGTGAGGATCATGGAGGGCATGTGAGG ATCATGGGGGACATGTGAGGATCATGGGAAGACGTGAGGATCATGGGAAG ACGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGGGGACCCATGAG GGTCATGGGGGGACGTGAGGATTGGGGGGACCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp2 HG03195.hp1 HG02451.hp1 HG02717.hp2 HG03195.hp1	a0001 a0014 a0001 a0014	a0001c0009 a0014c0020 a0001c0009 a0014c0020	a0001c0009t0002 a0014c0020t0002 a0001c0009t0002 a0014c0020t0002	a0001c0009t0002g0048 a0001c0009t0002g0086 a0014c0020t0002g0002 a0001c0009t0002g0048 a0001c0009t0002g0086 a0014c0020t0002g0002	3	25	0.1200	394	c.177 others(411): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCATA GAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGGAC CCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAAGA CGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGAGGAT CATGGGGGGACCCATGAGGGTCATGGGGGGACGTGAGGATTGGGGGGACC CGTGAGGATCATGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGAAGA others(387): Show TGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGGATCATAGGGGA GACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTG TGAGGATCATGGGGGGATGTGTGAGGATCATAGAGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGG ACATGTGAGGATCATGGGGGACATGTGAGGATCATGGAGGGCATGTGAGG ATCATGGGGGACATGTGAGGATCATGGGAAGACGTGAGGATCATGGGAAG ACGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGGGGACCCGTGAG GGTCATGGGGGGACGTGAGGATTGGGGGGACCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG00733.hp1 others(23): Show HG00544.hp1 HG00642.hp1 HG00733.hp1 HG01123.hp2 HG01192.hp1 HG01258.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02895.hp2 HG03195.hp2 NA18983.hp1 NA19005.hp1 NA19043.hp2 NA19070.hp2 NA19079.hp1 NA20805.hp1 NA20805.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0007 a0019	a0002c0002 a0002c0008 a0003c0028 others(4): Show a0002c0002 a0002c0008 a0003c0028 a0004c0005 a0004c0030 a0007c0014 a0019c0025	a0002c0002t0001 a0002c0002t0009 a0002c0002t0010 others(6): Show a0002c0002t0001 a0002c0002t0009 a0002c0002t0010 a0002c0008t0001 a0003c0028t0001 a0004c0005t0001 a0004c0030t0001 a0007c0014t0002 a0019c0025t0001	a0002c0002t0001g0011 a0002c0002t0001g0037 a0002c0002t0001g0041 others(23): Show a0002c0002t0001g0011 a0002c0002t0001g0037 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0078 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0009g0084 a0002c0002t0010g0039 a0002c0002t0010g0123 a0002c0008t0001g0077 a0003c0028t0001g0053 a0004c0005t0001g0044 a0004c0005t0001g0045 a0004c0005t0001g0058 a0004c0030t0001g0085 a0007c0014t0002g0087 a0019c0025t0001g0043	26	48	0.5417	394	c.177 others(411): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCATA GAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGGAC CCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAAGA CGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGAGGAT CATGGGGGGACCCGTGAGGGTCATGGGGGGACGTGAGGATTGGGGGGACC CGTGAGGATCATGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGAAGA others(387): Show TGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGGATCATAGGGGA GACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTG TGAGGATCATGGGGGGATGTGTGAGGATCATAGAGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGG ACATGTGAGGATCATGGGGGACATGTGAGGATCATGGAGGGCATGTGAGG ATCATGGGGGACATGTGAGGATCATGGGAAGACGTGAGGATCATGGGAAG ACGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGGGGACCTGTGAG GGTCATGGGGGGACGTGAGGATTGGGGGGACCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0002 a0010c0026t0002	a0010c0026t0002g0116 a0010c0026t0002g0116	1	23	0.0435	394	c.177 others(411): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCATA GAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGGAC CCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAAGA CGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGAGGAT CATGGGGGGACCTGTGAGGGTCATGGGGGGACGTGAGGATTGGGGGGACC CGTGAGGATCATGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COLEC11_chr2_3590112_3649644	3605426	A A	AGGGGGCG others(387): Show AGGGGGCGGGGGAGTCACGTGGGTGCCGAGGAGGGGGCGGGGGAGGGGAG TCACGTGGGTGCCGAGGAGGGGGCGGGGGAGGGGAGTCACGTGGGTGCCG AGGAGGGGGCGGGGGAGTCACGTGGGTGCCGAGGAGGGGGAGGGGAGTCA CGTGGGTGCCGAGGAGGGGGCGGGGGAGTCACGTGGGTGCCGAGGAGGGG GCGGGGGAGGGGAGTCACGTGGGTGCCGAGGAGGGGGCGGGGGAGGGGAG TCACGTGGGTGCCGAGGAGGCGGGGGAGGGGAGTCACGTGGGTGCCGAGG AGGGGGCGGGGGAGTCACGTGGGTGCCGAGGAGGGGGCGGGGGAGTCACG TGGGTGCCGAGGAGGGGGCGGGGGAGTCACGTGGGTGCCGAGGAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	131	0.0076	394	c.130 others(409): Show c.130+960_130+961insGCGGGGGAGTCACGTGGGTGCCGAGGAGGG GGCGGGGGAGGGGAGTCACGTGGGTGCCGAGGAGGGGGCGGGGGAGGGGA GTCACGTGGGTGCCGAGGAGGGGGCGGGGGAGTCACGTGGGTGCCGAGGA GGGGGAGGGGAGTCACGTGGGTGCCGAGGAGGGGGCGGGGGAGTCACGTG GGTGCCGAGGAGGGGGCGGGGGAGGGGAGTCACGTGGGTGCCGAGGAGGG GGCGGGGGAGGGGAGTCACGTGGGTGCCGAGGAGGCGGGGGAGGGGAGTC ACGTGGGTGCCGAGGAGGGGGCGGGGGAGTCACGTGGGTGCCGAGGAGGG GGCGGGGGAGTCACGTGGGTGCCGAGGAGGGGGCGGGGGAGTCACGTGGG TGCCGAGGAGGGGG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPNE7_chr16_89570758_89602246	89587707	A A	ACCCACAG others(387): Show ACCCACAGATACATGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACA TGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTC ACCCGCGTGTCACCCACAGATACATGGCCCCCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATA CATGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTG TCACCCGCGTGTCACCCACAGATACATGGCCCCCGTGTCACCCACAGATA CACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGA TACATGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0016 a0001c0008t0002g0016	1	343	0.0029	394	c.927 others(409): Show c.927+608_927+609insACAGATACATGGCCCCCGTGTCACCCGCGT GTCACCCACAGATACATGGCCCCCGTGTCACCCGCGTGTCACCCACAGAT ACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACATGGCCCCCGT GTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCC GTGTCACCCACAGATACATGGCCCCCGTGTCACCCGCGTGTCACCCACAG ATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACATGGCCCCC GTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCC CCGTGTCACCCACAGATACATGGCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRTC3_chr15_90524923_90650345	90647246	T T	TCAATCCT others(387): Show TCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCT CCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACA CCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCT CCACACCCCTCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACA ATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCT CCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCC CTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCTCAATCCTCCTCCA CACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	241	0.0041	394	c.51 others(405): Show c.5106_*5107insCAATCCTCCTCCACACCCCTCCTCCTCAATCCTC CTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCA CAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTC CTCCTCAATCCTCCTCCACACCCCTCCTCCTCCTCAATCCTCCTCCACAC CCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTC CTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAA TCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTC CTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCC TCCTCCTCCA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1902		chr15	TogoVar
CSMD1_chr8_2930361_4999914	3411987	T T	TATGCACC others(387): Show TATGCACCTATACATGCACGTATATATGCACGTATATATGCACACGTATA TATGCACGTATATATGCACACGTATATATGCACGTATATATGCACACGTA TATATGCACGTATATATGCACGTATATATGCACGTATATATGCACACGTA TATATGCATACGTATATATGCACACGTATATATGCATACGTATATATGCA CACGTATATATGCATACGTATATATGCACACGTATATATGCACGTATATA TGCACATACGTATATATGCACGTATATATGCACATACGTATATATGCACG TATATATGCACATACGTATATATGCACGTATATATGCACATACGTATATA TGCACGTATATATATACATACGTATATATGCACGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02451.hp1 HG02622.hp1	a0002 a0002	a0002c0030 a0002c0051 a0002c0030 a0002c0051	a0002c0030t0018 a0002c0051t0007 a0002c0030t0018 a0002c0051t0007	a0002c0030t0018g0122 a0002c0051t0007g0081 a0002c0030t0018g0122 a0002c0051t0007g0081	2	109	0.0183	394	c.156 others(413): Show c.1562-2383_1562-2382insGTATATATACACGTGCATATATACGT ATGTATATATATACGTGCATATATACGTATGTGCATATATACGTGCATAT ATACGTATGTGCATATATACGTGCATATATACGTATGTGCATATATACGT GCATATATACGTATGTGCATATATACGTGCATATATACGTGTGCATATAT ACGTATGCATATATACGTGTGCATATATACGTATGCATATATACGTGTGC ATATATACGTATGCATATATACGTGTGCATATATACGTGCATATATACGT GCATATATACGTGCATATATACGTGTGCATATATACGTGCATATATACGT GTGCATATATACGTGCATATATACGTGTGCATATATACGTGCATATATAC GTGCATGTATAGGTGCAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
DCDC2_chr6_24166755_24363059	24238179	A A	AGGGAGGA others(387): Show AGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAAT GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGGAGGGGAGTGGAAGG GGGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0104 a0002c0002t0004g0104	1	197	0.0051	394	c.923 others(413): Show c.923-33078_923-33077insCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTC CCCCTTCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCCTCCCCTCACCC TTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCA TTCCTCCCTCCCTCCCTCCATTCCTTCCTCCCTCCCTCCCTTCATTCCTC CCTCCCTCCCTTCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DDX51_chr12_132131594_132149319	132148918	C C	CACCACAC others(387): Show CACCACACCCCTAATCCCCCTGGGAGTGCCGCCGCCCTCGCTCACAGCCC CCCCTAATCCCCTCGGAGTGCCGCCGCCTCGCTCATGACCTCACCCTAAT CCCCTCGGTGAGTGCCCGCCGCCTCGCTCACACGACACCCCTAATCCCTC GAGTGCCGCCGCCTCGCTCATACCACACCCCTAACCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAGATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	247	0.0040	394	c.-46 others(405): Show c.-4623_-4622insTATCGAGCGAGGCGGCGGCACTCACCGAGGGGAT TAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGG TGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTG GTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATCTAGGGGTGTGGTGTG AGCGAGGCGGCGGCACTCACCGAGGGGTTAGGGGTGTGGTATGAGCGAGG CGGCGGCACTCGAGGGATTAGGGGTGTCGTGTGAGCGAGGCGGCGGGCAC TCACCGAGGGGATTAGGGTGAGGTCATGAGCGAGGCGGCGGCACTCCGAG GGGATTAGGGGGGGCTGTGAGCGAGGGCGGCGGCACTCCCAGGGGGATTA GGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4600		chr12	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(387): Show TGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGG GGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGGGGGGTGAGGG AGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	164	0.0061	394	c.-42 others(405): Show c.-4257_-4256insGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGG TGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(387): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGG GAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	164	0.0061	394	c.-42 others(405): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGG GTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DEPTOR_chr8_119868722_120055918	120021088	T T	TAAAATAA others(387): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAATAAAATAAAATATAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0013 a0002c0001t0013	a0002c0001t0013g0004 a0002c0001t0013g0004	1	195	0.0051	394	c.110 others(415): Show c.1101+11956_1101+11957insAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAATAAAATAAAATATAAAA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DGKQ_chr4_953887_978569	968179	C C	CGCCTCTC others(387): Show CGCCTCTCCTGCCCCGCCCCCCCAACTCCTCCACCTCCCAGCACCCACCC AACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCAGCACC CACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCA GCGCCCCCCTGGACCCCGTGCCTCTCCTGCCCCGCCCCCCCAACTCCTCC ACCTCCCAGCACCCACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCC CCTCCACCTCCCAGCGCCCCCCTGGACCCCGTGCCTCTCCTGCCCCGCCC CCCCAACTCCTCCACCTCCCAGCACCCACCCAACCCCGCACCTCTCCTGC CCCACCCCCACCCCCTCCACCTCCCAGCGCCCCCCTGGACCCCGT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19091.hp2 NA19066.hp1 NA19091.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0048 a0002c0003t0003g0048	2	275	0.0073	394	c.663 others(409): Show c.663+102_663+103insACGGGGTCCAGGGGGGCGCTGGGAGGTGGA GGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGGTGGGTGCTGGGAG GTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGCACGGGGTCCAGGGGGGC GCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGG TGGGTGCTGGGAGGTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGCACGG GGTCCAGGGGGGCGCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGAG GTGCGGGGTTGGGTGGGTGCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAG GAGAGGTGCGGGGTTGGGTGGGTGCTGGGAGGTGGAGGAGTTGGGGGGGC GGGGCAGGAGAGGC	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding	5/22			chr4	TogoVar
DGKQ_chr4_953887_978569	968179	C C	CGCCTCTC others(387): Show CGCCTCTCCTGCCCCGCCCCCCCAACTCCTCCACCTCCCAGCACCCACCC AACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCAGCACC CACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCA GCGCCCCCCTGGACCCCGTGCCTCTCCTGCCCCGCCCCCCCAACTCCTCC ACCTCCCAGCACCCACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCC CCTCCACCTCCCAGCGCCCCCCTGGACCCCGTGCCTCTCCTGCCCCGCCC CCCCAACTCCTCCACCTCCCAGCACCCACCCAACCCCGCACCTCTCCTGC CCCACCCCCACCCCCTCCACCTCCCAGCGCCTCCCTGGACCCCGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA20752.hp2 HG01123.hp1 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0047 a0002c0003t0003g0047	2	275	0.0073	394	c.663 others(409): Show c.663+102_663+103insACGGGGTCCAGGGAGGCGCTGGGAGGTGGA GGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGGTGGGTGCTGGGAG GTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGCACGGGGTCCAGGGGGGC GCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGG TGGGTGCTGGGAGGTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGCACGG GGTCCAGGGGGGCGCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGAG GTGCGGGGTTGGGTGGGTGCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAG GAGAGGTGCGGGGTTGGGTGGGTGCTGGGAGGTGGAGGAGTTGGGGGGGC GGGGCAGGAGAGGC	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding	5/22			chr4	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(387): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATGATATATATGGGATATATATATCATATATATATCATATATATGGG ATATATATATCATATATATCATATATATGGGATATATATATCATATATAT CATATATATGGGATATATATATCATATATATCATATATATGGGATATATA TATCATATATATCATATATATGGGATATATATATCATATATATCATATAT ATGGGATATATATATCATATATATCATATATATGGGATATATATATATAT CATATATATCATATATATGGGATATATATATATATCATATATATCATATA TATGGGATATATATATATATCATATATATGGGATATATATATCAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0291 a0003c0003t0001g0291	1	55	0.0182	394	c.22- others(411): Show c.22-13175_22-13174insATGATATATATATCCCATATATATGATA TATATATATATCCCATATATATGATATATATGATATATATATATATCCCA TATATATGATATATATGATATATATATATATCCCATATATATGATATATA TGATATATATATCCCATATATATGATATATATGATATATATATCCCATAT ATATGATATATATGATATATATATCCCATATATATGATATATATGATATA TATATCCCATATATATGATATATATGATATATATATCCCATATATATGAT ATATATGATATATATATCCCATATATATGATATATATATGATATATATAT CCCATATATATCATATATATATCATATATATATCATATATATGGGATATA TATATCATATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DPEP1_chr16_89608642_89643433	89634816	T T	TCCCTTCC others(387): Show TCCCTTCCTTTCCTTTCCCTTCTTCTCCTTTCCCTCTTCCCTTTCCCATC CTTCTTCTCCTTTCCCTTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCTT CCTTCTCCTTTCCCCTTCCCTTCTCTCTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCTTCCCTTTCCTTCCTTCTCCCTTTCCCTTCCTT CCTCCTTTCCCTTCCTTCCTTCCCTTTCCCTCTCCTTTCTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTCCCTTCCTTCTCCTTTCCCTTCCCTTCTC TTTCCCTTCCTTTCCTTCCTTCTTCCTTTCCCTTCTTCTCCTTTCCTTCC TTCCCTTTCCCCTTCTTATCCCTTTCCTTCCTTTCCCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0192	1	248	0.0040	394	c.105 others(411): Show c.105-1092_105-1091insCCCTTCCTTTCCTTTCCCTTCTTCTCCT TTCCCTCTTCCCTTTCCCATCCTTCTTCTCCTTTCCCTTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCTTCCTTCTCCTTTCCCCTTCCCTTCTCTCTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCTTCCCTTTCCTT CCTTCTCCCTTTCCCTTCCTTCCTCCTTTCCCTTCCTTCCTTCCCTTTCC CTCTCCTTTCTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTCCCTTCCT TCTCCTTTCCCTTCCCTTCTCTTTCCCTTCCTTTCCTTCCTTCTTCCTTT CCCTTCTTCTCCTTTCCTTCCTTCCCTTTCCCCTTCTTATCCCTTTCCTT CCTTTCCCTCCTTCTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DYM_chr18_49031387_49465645	49440994	A A	ATTTATAT others(387): Show ATTTATATAATATATGACTATATATTATATATTTATATAATATATGACTA TATATTATATATTTATATAATATATGACTATATATTATATATTTATATAA TATATGACTATATATTATATATTTATATAATATATGACTATATATTATAT ATTTATATAATATATGACTATATATTATATATTTATATAATATATGACTA TATATTATATATTTATATAATATATGACTATATATTATATATTTATATAA TATATGACTATATATTATATATTTATATAATATATGACTATATATTATAT ATTTATATAATATATGACTATATATTATATATTTATATAATATATTTATA TAAATACATTATATTTTATATATTTATATAAATACATTATATTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0139 a0001c0001t0004g0139	1	202	0.0050	394	c.-53 others(413): Show c.-53-10548_-53-10547insAAAATATAATGTATTTATATAAATAT ATAAAATATAATGTATTTATATAAATATATTATATAAATATATAATATAT AGTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATA TATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATAT TATATAAATATATAATATATAGTCATATATTATATAAATATATAATATAT AGTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATA TATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATAT TATATAAATATATAATATATAGTCATATATTATATAAATATATAATATAT AGTCATATATTATATAAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EHMT1_chr9_137614005_137841127	137716160	G G	GGTGTCAT others(387): Show GGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTT GGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAA GTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0160 a0006c0012t0001g0160	1	164	0.0061	394	c.86- others(407): Show c.86-463_86-462insTCATGGTGGGGGAGGAAGTTGTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGG GAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCA TGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGG GAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(387): Show CGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGATCAGAAACGT AAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATC AGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCA ATGACACTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTC CGGATACTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATC AATCGATCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0248 a0001c0004t0001g0248	1	209	0.0048	394	c.190 others(413): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAACCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAAC GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATA CTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGA TCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTAT CAATGACACTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATT TCCGGATACTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(387): Show CGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAATGT AAAGGTTTATTTCCAGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAATCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATC AGAAACGTAAAGGTTTATTTCCAGATACTCAGTTCTGCGTTGAATTATCA ATGACACTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTC CAGATACTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATC AATCGATCAGAAATGTAAAGGTTTATTTCCGGATACTCAGTTCTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0005 a0001c0007t0002g0005	1	209	0.0048	394	c.190 others(413): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAATCAATCGATCAGAAATGTAAAGGTTTATTTCCAGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAAT GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCAGATA CTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGA TCAGAAACGTAAAGGTTTATTTCCAGATACTCAGTTCTGCGTTGAATTAT CAATGACACTTTTGTCAAAAATCAATCGATCAGAAATGTAAAGGTTTATT TCCGGATACTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAA others(387): Show GTATATAAATATATATGTATGTATATTATATACATATAAATATATATATT TATATACATATAAATATATATTTACATACATATAAATATATATTTACATA CATATAAATATATATATTTATATACATATAATACATATACATATATACAT ATAAATATATATTTATATACATATAAATATATATATATACATATAAATAT ATATATATTTATATACATATAAATATATATATATTTATATATATATTTAT ATACATATAAATATATAATTATATACATATAAATATATATAATTATATAC ATATAAATATATATTTATATACATATAAATATATATATTTATATACATAT AAATTTATATACATATAAATATATATATTTATATACATATAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03486.hp2 HG01891.hp1 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0029 a0004c0046 a0001c0029 a0004c0046	a0001c0029t0005 a0004c0046t0005 a0001c0029t0005 a0004c0046t0005	a0001c0029t0005g0093 a0004c0046t0005g0278 a0001c0029t0005g0093 a0004c0046t0005g0278	2	29	0.0690	394	c.49 others(405): Show c.4960_*4961insAATTTATATGTATATAAATATATATATTTATATG TATATAAATTTATATGTATATAAATATATATATTTATATGTATATAAATA TATATTTATATGTATATAATTATATATATTTATATGTATATAATTATATA TTTATATGTATATAAATATATATATAAATATATATATATTTATATGTATA TAAATATATATATATTTATATGTATATATATATATTTATATGTATATAAA TATATATTTATATGTATATATGTATATGTATTATATGTATATAAATATAT ATATTTATATGTATGTAAATATATATTTATATGTATGTAAATATATATTT ATATGTATATAAATATATATATTTATATGTATATAATATACATACATATA TATTTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
GAL3ST2_chr2_241771822_241809287	241806532	A A	ACCCTCCC others(387): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCTTCCCTCCCCCTCAA CCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCT TCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	205	0.0049	394	c.23 others(405): Show c.2366_*2367insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACC TTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCT CAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCTT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2246		chr2	TogoVar
GET4_chr7_871554_901436	890415	C C	CGGGGTCT others(387): Show CGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGG GAGTGGAGGGAGGGCGAGCGGGTGTCAGGACGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGTGGGTGTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp1 HG00280.hp2 HG01175.hp1	a0001 a0001	a0001c0005 a0001c0009 a0001c0005 a0001c0009	a0001c0005t0001 a0001c0009t0001 a0001c0005t0001 a0001c0009t0001	a0001c0005t0001g0252 a0001c0009t0001g0249 a0001c0005t0001g0252 a0001c0009t0001g0249	2	264	0.0076	394	c.467 others(409): Show c.467-510_467-509insGTCTGGGAGTGGAGGGAGCGTGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGGGCGAGCGGGTGTCAGGACGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGA GAGTGGGTGTTGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GNG4_chr1_235542685_235654784	235587634	A A	ATGTGTGT others(387): Show ATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGGGG TAGGAGGTGAGCGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGAGTGTGAG TGTGGGAGGGTGTGGGGTGGGGTGAGTGTGTGGGAGGGTGTGGGGTGGGG GTGAGCATGAGTGTGGGAGGGTGTGGGGGTGTGAGTGTGGGAGGGTGTGG GGTGGGGTGAGAGCATGGGAGGGTGTGGGGTGGGGGTGAGTGTGACTGGG AGAGTGTGGGGTGGGGGTGAATGTGAGTGTGGGAGGGTGTGGGGTGGGGG TGTGAGTGTGGGAGGGTGTGGGGTGGGGTGTGTGAATGGGGTGGATGTGT GTGTGAGCGTGGGTTTGTGGGTGTGTGTCAGGGTGTGTGGTGTGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp2 HG02559.hp1 others(2): Show HG01109.hp1 HG02451.hp2 HG02559.hp1 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0028 a0001c0001t0050 others(1): Show a0001c0001t0004 a0001c0001t0028 a0001c0001t0050 a0001c0001t0070	a0001c0001t0004g0231 a0001c0001t0028g0246 a0001c0001t0028g0247 others(2): Show a0001c0001t0004g0231 a0001c0001t0028g0246 a0001c0001t0028g0247 a0001c0001t0050g0042 a0001c0001t0070g0263	5	68	0.0735	394	c.-10 others(411): Show c.-10-3787_-10-3786insCCACACCACACACCCTGACACACACCCA CAAACCCACGCTCACACACACATCCACCCCATTCACACACCCCACCCCAC ACCCTCCCACACTCACACCCCCACCCCACACCCTCCCACACTCACATTCA CCCCCACCCCACACTCTCCCAGTCACACTCACCCCCACCCCACACCCTCC CATGCTCTCACCCCACCCCACACCCTCCCACACTCACACCCCCACACCCT CCCACACTCATGCTCACCCCCACCCCACACCCTCCCACACACTCACCCCA CCCCACACCCTCCCACACTCACACTCACCCCCACCCCACACCCTCCCACA CTCACGCTCACCTCCTACCCCACACCCAGACACACACCCACACACACCCA TACTCTCACACACACA	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(387): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCACCTCCTTCCGCCTCCCC CTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCCT TCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCC TTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTT CCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTC CTTCCCCTTTCCACCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0028 a0002c0003t0001g0028	1	102	0.0098	394	c.972 others(409): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCAC CTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCC CTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCT TCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTC CCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCC CCTTCCCCCTCCCCTCCTTCCCCTTTCCACCTTCCCCCTCCCCTCCTTCC CCCTTCCCCCCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(387): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCACCTCCTTCCGCCTCCCC CTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCCT TCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCC TTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTT CCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTC CTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	102	0.0098	394	c.972 others(409): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCAC CTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCC CTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCT TCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTC CCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCC CCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCC CCCTTCCCCCCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(387): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCC TTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCT TCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCT CCTTCCCCTTTCCACCTTCCCCCTCCCCTCCTTCCCCCTTCCCCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18522.hp2 NA19067.hp1 others(2): Show HG02895.hp1 NA18522.hp2 NA19067.hp1 NA19077.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0081 others(2): Show a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0081 a0001c0001t0001g0100 a0001c0001t0011g0038	5	106	0.0472	394	c.972 others(409): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCCTTCCCCCTCCCCTCCTTCCCCTTTCCACCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(387): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCC TTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCT TCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCT CCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03516.hp2 HG02257.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0090 a0001c0001t0001g0053 a0001c0001t0001g0090	2	103	0.0194	394	c.972 others(409): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(387): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCTCCCCTTCCCCTCCT TCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCC TTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTT CCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTC CTTCCCCTTTCCACCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	102	0.0098	394	c.972 others(409): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCC CTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCT TCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTC CCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCC CCTTCCCCCTCCCCTCCTTCCCCTTTCCACCTTCCCCCTCCCCTCCTTCC CCCTTCCCCCCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPR173_chrX_53043789_53085615	53074404	T T	TTATATTT others(387): Show TTATATTTATTTATAAATAAATATATATTAATATATATTTATATTTATTT ATTAATAAATATATATAAATATATATAAATATATATTTATATTTATTTAT AAATAAATATATATAAATATATATAAATATATATTTATATTTATTTATAA ATATATATTTATATTTATTTATATATAAATATATATAAATCTATATTTAT AGTTATTTATATATAAATATATAAATCTATATATATAAATATAGATTTAT ATATATTTATATATAAATAACTATAAATATAGATTTATATATATTTATAT ATAAATAACTATAAATATAGATTTATATATATTTATATATAAATAACTAT ATAGATTTATATATATTTATATATAAATAACTATATAGATTTATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	190	0.0053	394	c.-97 others(411): Show c.-97-2112_-97-2111insTTATAAATAAATATATATTAATATATAT TTATATTTATTTATTAATAAATATATATAAATATATATAAATATATATTT ATATTTATTTATAAATAAATATATATAAATATATATAAATATATATTTAT ATTTATTTATAAATATATATTTATATTTATTTATATATAAATATATATAA ATCTATATTTATAGTTATTTATATATAAATATATAAATCTATATATATAA ATATAGATTTATATATATTTATATATAAATAACTATAAATATAGATTTAT ATATATTTATATATAAATAACTATAAATATAGATTTATATATATTTATAT ATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATAG ATTTATATATATTTAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(387): Show TATATATTAATATATATTTATATATATTTATTAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATAAATATATATTTATATTTATTTATAAATATATATTTATATTTATTTA TATATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATATA TAAATCTATATATATAAATATAGATTTATATATATTTATATATAAATAAC TATAAATATAGATTTATATATATTTATATATAAATAACTATATAGATTTA TATATATTTATATATAAATAACTATATAGATTTATATATATTTATATATA AATAACTATATAGATTTATATATATTTATTTATAAATAACTATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	85	0.0118	394	c.-97 others(411): Show c.-97-2095_-97-2094insTTAATATATATTTATATATATTTATTAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA AATATATATAAATATATATAAATATATATTTATATTTATTTATAAATATA TATTTATATTTATTTATATATAAATATATATAAATCTATATTTATAGTTA TTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATATA TTTATATATAAATAACTATAAATATAGATTTATATATATTTATATATAAA TAACTATATAGATTTATATATATTTATATATAAATAACTATATAGATTTA TATATATTTATATATAAATAACTATATAGATTTATATATATTTATTTATA AATAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(387): Show TATATATTAATATATATTTATATTTATTTATTAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATAAATATATATTTATATTTATTTATAAATATATATTTATATTTATTTA TATATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATATA TAAATCTATATATATAAATATAGATTTATATATATTTATATATAAATAAC TATAAATATAGATTTATATATATTTATATATAAATAACTATATAGATTTA TATATATTTATATATAAATAACTATATAGATTTATATATATTTATATATA AATAACTATATAGATTTATATATATTTATTTATAAATAACTATAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01099.hp1 others(4): Show HG00642.hp1 HG00741.hp1 HG01099.hp1 HG01256.hp1 HG01358.hp1 HG01517.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0120 a0001c0001t0001g0138 a0001c0001t0001g0139 others(4): Show a0001c0001t0001g0120 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0003g0096 a0001c0001t0004g0184 a0001c0001t0004g0186	7	91	0.0769	394	c.-97 others(411): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATTAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA AATATATATAAATATATATAAATATATATTTATATTTATTTATAAATATA TATTTATATTTATTTATATATAAATATATATAAATCTATATTTATAGTTA TTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATATA TTTATATATAAATAACTATAAATATAGATTTATATATATTTATATATAAA TAACTATATAGATTTATATATATTTATATATAAATAACTATATAGATTTA TATATATTTATATATAAATAACTATATAGATTTATATATATTTATTTATA AATAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRHL1_chr2_9946693_10007277	9998889	C C	CACATATA others(387): Show CACATATATATGTACACATATATATACACATATATATGTACACATATATA TACACATATATATGTACACATATATATACACATATATATGTACACATATA TATACACATATATATGTACACATATATGTACACATATATATGTACACATA TATGTACACATATATATGTACACATATATGTACACATATATATGTACACA TATATGTACACATATATATGTACACATATATGTACACATATATATGTACA CATATATGTACACATATATATGTACACATATATGTACACATATATATGTA CACATATATGTACACATATATATGTACATATATATGTACACATATATATG TACACATATATATATACATATATATGTACACATATATATATACAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	169	0.0059	394	c.167 others(409): Show c.1678-75_1678-74insCATATATATGTACACATATATATACACATA TATATGTACACATATATATACACATATATATGTACACATATATATACACA TATATATGTACACATATATATACACATATATATGTACACATATATGTACA CATATATATGTACACATATATGTACACATATATATGTACACATATATGTA CACATATATATGTACACATATATGTACACATATATATGTACACATATATG TACACATATATATGTACACATATATGTACACATATATATGTACACATATA TGTACACATATATATGTACACATATATGTACACATATATATGTACATATA TATGTACACATATATATGTACACATATATATATACATATATATGTACACA TATATATATACATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GSE1_chr16_85608322_85681200	85653220	T T	TCCTCCCC others(387): Show TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCC CCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCC CCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCC CCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCT CCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCC TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCCTCCTCCTCCT CCCCCCCCCTCCTCCTCCTCCCCCCCCCTCCTCCTCCTCCCCCCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	197	0.0051	394	c.427 others(411): Show c.427-1053_427-1052insCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCCCTCCTCCCCCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCCT CCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCC CCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCC TCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCC CCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCC CCCCCCTCCTCCTCCTCCCCCCCCCTCCTCCTCCTCCCCCCCCCTCCTCC TCCTCCCCCCCCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
IFNAR1_chr21_33319970_33364864	33321822	A A	ATGTGGAA others(387): Show ATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGTG TGGAACCAATACATATGTGGAACTGTGGAACCAATACATATGTGGACCAT ACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATA CATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACAT GTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATA TGTGGAACATACATGTGTGGAACCAATACATATGTGGAACATACATGTGT GGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTG GACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	260	0.0038	394	c.-32 others(405): Show c.-3234_-3233insTGTGGAACATACATGCGTGGAACCAATACATATG TGGAACATACATGTGTGGAACCAATACATATGTGGAACTGTGGAACCAAT ACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACA TGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACAT ATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTG TGGAACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGT GGAACATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGA ACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGAC CATACATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3147		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321822	A A	ATGTGGAA others(387): Show ATGTGGAACATACATGTGTGGAACCAATACATATGTGGAACTGTGGAACC AATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCAT ACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATA CATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACAT GTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATA TGTGGAACATACATGTGTGGAACCAATACATATGTGGAACATACATGTGT GGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTG GACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 NA18997.hp1 HG02083.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0036 a0001c0001t0007g0148 a0001c0001t0007g0036 a0001c0001t0007g0148	2	261	0.0077	394	c.-32 others(405): Show c.-3234_-3233insTGTGGAACATACATGTGTGGAACCAATACATATG TGGAACTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAAT ACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACA TGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACAT ATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTG TGGAACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGT GGAACATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGA ACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGAC CATACATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3147		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322394	T T	TATGCAGT others(387): Show TATGCAGTATATATATATGAATATATATATGGAATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATGTGGAATATATATATGGAAT ATATATATATGTGGAATATATATATGGAATATATATATATGTGGAATATA TATATGGAATATATATATGGAATATATATATATGGAATATATATATGGAA TATATACATGGAATATATGTATATGGAATATATACATGGAATATATGTAT ATGGAATATATACATGGAATATGTGTATATGGAATATATACATGGAATAT ATGTATATGGAATATATACATGGAATATATATATGGAATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	301	0.0033	394	c.-26 others(405): Show c.-2662_-2661insATGCAGTATATATATATGAATATATATATGGAAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATGGAATATATATATGGAATATATATATGGAATATATATGTGGA ATATATATATGGAATATATATATATGTGGAATATATATATGGAATATATA TATATGTGGAATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATGGAATATATACATGGAATATATGTATATGGAATATATAC ATGGAATATATGTATATGGAATATATACATGGAATATGTGTATATGGAAT ATATACATGGAATATATGTATATGGAATATATACATGGAATATATATATG GAATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2575		chr21	TogoVar
IL1RAPL2_chrX_104561199_105772829	105307531	A A	ATATATAT others(387): Show ATATATATTATATATAATATATATATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATATTTTATA TTATATATATTATATATAATATATATTTTATATTATATATATTATATATA ATATATATTTTATATTATATATATTATATATAATATATATTTTATATTAT ATATATTATATATAATATATATTTTATATTGTATATATTATATATAATAT ATATTTTATATTGTATATATTATATATAATATATATTTTATATTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02818.hp1 HG02258.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0124 a0001c0001t0001g0127	2	139	0.0144	394	c.697 others(413): Show c.697+40013_697+40014insATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATATTTTATA TTATATATATTATATATAATATATATTTTATATTATATATATTATATATA ATATATATTTTATATTATATATATTATATATAATATATATTTTATATTAT ATATATTATATATAATATATATTTTATATTGTATATATTATATATAATAT ATATTTTATATTGTATATATTATATATAATATATATTTTATATTGTATAT ATTATATATAATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
INSR_chr19_7107265_7299414	7153485	G G	GCCACACA others(387): Show GCCACACAACGGACCACACATACACCACACACCACAAACACAACCACACA CACACTATACACACACACCACACACACCACACAACAGACCACACATACAC ACACCACACACCACAAACACACACCATACACACACACCACACATACCACA CACACCACACACACAACCACACACACACACCACACACACAACACACAACA GACCACACATACACACACCACAAACACAACCACACACACCACACATACCA CACACACACCACACACACAACCACACACACCACACCATACACACAACCAC ACACACACCATACACGCACCACACACACACCACATACACACTTCACACAC ACCACACACCACACAAATCACACACACCACCACACCCACGCCACA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp1 HG02976.hp2 HG03130.hp1	a0001 a0001	a0001c0058 a0001c0059 a0001c0058 a0001c0059	a0001c0058t0013 a0001c0059t0048 a0001c0058t0013 a0001c0059t0048	a0001c0058t0013g0170 a0001c0059t0048g0042 a0001c0058t0013g0170 a0001c0059t0048g0042	2	292	0.0068	394	c.203 others(411): Show c.2030-559_2030-558insTGTGGCGTGGGTGTGGTGGTGTGTGTGA TTTGTGTGGTGTGTGGTGTGTGTGAAGTGTGTATGTGGTGTGTGTGTGGT GCGTGTATGGTGTGTGTGTGGTTGTGTGTATGGTGTGGTGTGTGTGGTTG TGTGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTGTGGTTGTGTTTGTGG TGTGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGTGTG GTTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGTGTG TTTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGG TGTGTGTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGT GTGGTCCGTTGTGTGG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(387): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGT GGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGG GAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTC GGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGG GGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGG GGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0032 a0001c0024t0001g0032	1	100	0.0100	394	c.623 others(411): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCT CGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCG GGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCT CGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP1_chr4_6021199_6205549	6067594	T T	TGCACACA others(387): Show TGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTG CACACACACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCTT CTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCT GCACACACAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCCGC ACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCAC ACACAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACAC ACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACAC ACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0056 a0001c0003t0001g0056	1	206	0.0049	394	c.130 others(413): Show c.1303-2587_1303-2586insGGAAGAGCTTGAGTGAACCTGGAGCT CAGGGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGA GCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACGTGGAGC TCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTC AGGGGGGTGACCTGTGTGTGCGGAAGAGCTTGAGTGAACGTGGAGCTCAG GGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGG GGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGG TGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGG GGGGTGACCTGTGTGTGC	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAZF1_chr7_27825577_28185795	28110448	A A	AAAAGGAA others(387): Show AAAAGGAAAGAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAACTTGGGAGGCTGC GGGAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGTAGTGAGCCGAGA TCACGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCAAAAA AAGAAAAAAGAGAGAGAGAAAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	177	0.0056	394	c.115 others(413): Show c.115+70014_115+70015insCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTT TCTCTCTCTCTTTTTTCTTTTTTTGATGGAGTCTCACTCTGTCGCCCAGG CTGGAGTGCAATGGCGTGATCTCGGCTCACTACAACCTCTGCCTCCCAGG TTCAAGTGATTCTCCTCCCGCAGCCTCCCAAGTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTCTTTCCTTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
KCNH1_chr1_210673314_211139148	210718386	T T	TTAATGCA others(387): Show TTAATGCATAAATATATGCATATATTTAATGCATAAATATATGCATATAT TTAATACATAAATATATGCATATATTTAATATATGCATATATTTAATACA TAAATATATGCATATATTTAATATATGCATATATTTAATACATAAATATA TGCATATATTTAATACATAAATATATGCATATATTTAATACATAAATATA TGCATATATTTAATACATAAATATATGCATATATTTAATACATAAATATA TGCATATATTTATATATAAAATATATACATATATGTATATATATAAAATA TATACATATATGTATATATATAAAATATATACATATATGTATATATATAA AATATATACATATATGTATATATATAAAATATATACATATATGTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02165.hp2 NA18969.hp1 HG00423.hp2 HG02165.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0007 a0001c0001t0002 a0001c0002t0007	a0001c0001t0002g0054 a0001c0001t0002g0097 a0001c0002t0007g0068 a0001c0001t0002g0054 a0001c0001t0002g0097 a0001c0002t0007g0068	3	130	0.0231	394	c.211 others(415): Show c.2113-34249_2113-34248insTACATATATGTATATATTTTATAT ATATACATATATGTATATATTTTATATATATACATATATGTATATATTTT ATATATATACATATATGTATATATTTTATATATATACATATATGTATATA TTTTATATATAAATATATGCATATATTTATGTATTAAATATATGCATATA TTTATGTATTAAATATATGCATATATTTATGTATTAAATATATGCATATA TTTATGTATTAAATATATGCATATATTTATGTATTAAATATATGCATATA TTAAATATATGCATATATTTATGTATTAAATATATGCATATATTAAATAT ATGCATATATTTATGTATTAAATATATGCATATATTTATGCATTAAATAT ATGCATATATTTATGCATTA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KDM4B_chr19_4964113_5158598	5131563	A A	AGGCAGGG others(387): Show AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGA GGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTG GGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGG GGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGG CAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGG GGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGG TGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGA GGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0068 a0002c0003t0008g0068	1	162	0.0062	394	c.178 others(409): Show c.1785+47_1785+48insAGCGGGGGAGGCAGGGAGGAGGGGGGCAGG TGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCG GGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGG GCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAG GGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGG GGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGG GAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCA GGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGG GGCAGGTGGGGTGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(387): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTGC GGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGC GGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGGG GGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGC GGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGG GAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0065 a0002c0002t0011g0065	1	326	0.0031	394	c.317 others(411): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGC GGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCG GGAACGGCGCTGCGGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGC GGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAA CGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAAC GGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGG GAACGGCGCTGCGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAIR1_chr19_54346384_54369931	54349469	G G	GAGGGATG others(387): Show GAGGGATGGAGGACGCAGATCCTGAGGATGGATGGAGGGAGGATGCAGAT CCTGAGGGTGGATGGATGGAGGACGCAGATCCTGAGGATGGATGGAGGGA GGACACAGATCCTGAGGATGGATGGAGGGAGGACGCAGATCCTGAGGGTG AATGGATGGAGGACGCAGATCCTGAGGGTGGATGGATGGAGGGAGGACGC AGATCCTGAGGATGGATGGAGGGAGGACACAGATCCTGAGGATGGATGGA GGGAGGACACAGATCCTGAGGGTGGATGGATGGAGGACAGAGATCCTGAG GATGGATGGAGGGAGGACACAGATCCTGAGGATGGATGGAGGGAGGACGC AGATCCTGAGGGTGAATGGATGGAGGACACAGATCCTGAGGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG03139.hp1 HG02615.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0022 a0001c0001t0001g0041	2	282	0.0071	394	c.57 others(405): Show c.5798_*5799insTCACCCTCAGGATCTGTGTCCTCCATCCATTCAC CCTCAGGATCTGCGTCCTCCCTCCATCCATCCTCAGGATCTGTGTCCTCC CTCCATCCATCCTCAGGATCTCTGTCCTCCATCCATCCACCCTCAGGATC TGTGTCCTCCCTCCATCCATCCTCAGGATCTGTGTCCTCCCTCCATCCAT CCTCAGGATCTGCGTCCTCCCTCCATCCATCCACCCTCAGGATCTGCGTC CTCCATCCATTCACCCTCAGGATCTGCGTCCTCCCTCCATCCATCCTCAG GATCTGTGTCCTCCCTCCATCCATCCTCAGGATCTGCGTCCTCCATCCAT CCACCCTCAGGATCTGCATCCTCCCTCCATCCATCCTCAGGATCTGCGTC CTCCATCCCT	LAIR1	ENSG00000167613.16	transcript	ENST00000391742.7	protein_coding		1914		chr19	TogoVar

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