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
ADARB2_chr10_1172313_1742525	1237952	GCCTCCCG others(135): Show GCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCCTG CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	106	0.0094	-142	c.136 others(19): Show c.1361+4037_1362-4108del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238347	TCCCCTCT others(135): Show TCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTC	T T	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	106	0.0094	-142	c.136 others(19): Show c.1361+3642_1361+3783del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238871	CCCCTCTG others(135): Show CCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCT CTCCCTCCCTCTGGCGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCCT CTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0006 a0002c0016t0006	a0002c0016t0006g0010 a0002c0016t0006g0010	1	106	0.0094	-142	c.136 others(19): Show c.1361+3118_1361+3259del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AGGF1_chr5_77025404_77070234	77042384	CGGCCGGG others(135): Show CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02647.hp1 HG02922.hp1 others(1): Show HG02155.hp2 HG02647.hp1 HG02922.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0269 a0001c0002t0003g0126 a0001c0002t0003g0127 others(1): Show a0001c0001t0001g0269 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0147	4	438	0.0091	-142	c.870 others(17): Show c.870+2698_870+2839del	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
AGGF1_chr5_77025404_77070234	77042530	CGGGCAGA others(135): Show CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCCACCTCCCTCCCGGACGTGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCATCCCGGACGGGGCGGCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02615.hp1 HG03453.hp1 others(1): Show HG01496.hp2 HG02615.hp1 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0120 a0001c0001t0012g0121 a0001c0001t0012g0137 others(1): Show a0001c0001t0012g0120 a0001c0001t0012g0121 a0001c0001t0012g0137 a0001c0001t0012g0191	4	438	0.0091	-142	c.870 others(17): Show c.870+2821_870+2962del	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
AGMO_chr7_15195317_15567015	15322585	AATATATA others(135): Show AATATATAAATATATATAAATATATATAAATATATAAATATATATAAATA TATATAAATATATAAATATATATATAAATATATATAAATATATGTATATA TAAATATATGAATATGTATAAATATATATAAATATATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03225.hp1 HG02896.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0002 a0002c0002t0002 a0001c0005t0002 a0002c0002t0002	a0001c0005t0002g0013 a0002c0002t0002g0112 a0001c0005t0002g0013 a0002c0002t0002g0112	2	236	0.0085	-142	c.126 others(21): Show c.1263+42787_1263+42928del	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
ANO9_chr11_412938_447011	421378	ACACACAC others(135): Show ACACACACACACACAGGGGAGGCCACAGGCTCCCAGATGAACCGCACCCA CACGTGGGCGCGCGCACACACACACACACCCCCACACAGGGGAGGCCACA GGCTCCCAGACGAACCGCACCTGCACGTGGGCGCACACACACC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02976.hp2 NA19030.hp2 HG01168.hp2 HG02976.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0121 a0002c0002t0001g0070 a0002c0002t0001g0071 a0001c0001t0001g0121 a0002c0002t0001g0070 a0002c0002t0001g0071	3	286	0.0105	-142	c.133 others(17): Show c.1335-322_1335-181del	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	15/22			chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1889619	CTGTGAGG others(135): Show CTGTGAGGAGTCATGGAGTGTGGTGTGAGTTGTGAGAAAACTCGGAGTGG GGTGAGGGTCGTGAGGAAACAGTGGGGTGAAGGTTTGTGAGGAGACCCTG AGTGGAGTGAGGGTTGCGAGGAGACATTGAGTGGGATGAGGGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(13): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG01081.hp2 HG01106.hp2 HG01884.hp1 HG04228.hp2 NA18941.hp1 NA18982.hp1 NA18994.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19064.hp1 NA19091.hp2 NA21309.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0002 a0001c0003 a0001c0005 others(11): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0016 a0001c0018 a0001c0035 a0001c0050 a0001c0112 a0001c0114 a0001c0132 a0005c0087 a0006c0093	a0001c0002t0001 a0001c0003t0020 a0001c0005t0001 others(12): Show a0001c0002t0001 a0001c0003t0020 a0001c0005t0001 a0001c0006t0001 a0001c0007t0003 a0001c0016t0004 a0001c0018t0008 a0001c0018t0028 a0001c0035t0001 a0001c0050t0002 a0001c0112t0017 a0001c0114t0017 a0001c0132t0020 a0005c0087t0002 a0006c0093t0002	a0001c0002t0001g0198 a0001c0003t0020g0083 a0001c0005t0001g0325 others(13): Show a0001c0002t0001g0198 a0001c0003t0020g0083 a0001c0005t0001g0325 a0001c0006t0001g0219 a0001c0006t0001g0264 a0001c0007t0003g0352 a0001c0016t0004g0176 a0001c0018t0008g0295 a0001c0018t0028g0146 a0001c0035t0001g0045 a0001c0050t0002g0255 a0001c0112t0017g0124 a0001c0114t0017g0122 a0001c0132t0020g0084 a0005c0087t0002g0276 a0006c0093t0002g0197	16	363	0.0441	-142	c.118 others(19): Show c.1182+3922_1183-3799del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7367771	ATACACAT others(135): Show ATACACATATATATATTTTATATATATATACACATATATATATTTTATAT ATATATACACATATATATATTTTATATATATATATACACATATATATTTT TATATATATATATTTTATATATATTTTTTATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19030.hp1 NA19043.hp1 others(1): Show HG02965.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp2	a0001 a0020 a0001 a0020	a0001c0001 a0001c0002 a0001c0042 others(1): Show a0001c0001 a0001c0002 a0001c0042 a0020c0044	a0001c0001t0004 a0001c0002t0003 a0001c0042t0025 others(1): Show a0001c0001t0004 a0001c0002t0003 a0001c0042t0025 a0020c0044t0001	a0001c0001t0004g0293 a0001c0002t0003g0280 a0001c0042t0025g0250 others(1): Show a0001c0001t0004g0293 a0001c0002t0003g0280 a0001c0042t0025g0250 a0020c0044t0001g0279	4	298	0.0134	-142	c.15+ others(15): Show c.15+4869_16-4897del	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
BAIAP2_chr17_81030151_81122434	81053959	GGGGTGGG others(135): Show GGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCTGGCCCCAAGG GTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCGTGGGGT GGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCTGGCCCCAA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	376	0.0027	-142	c.130 others(15): Show c.130+255_130+396del	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81078358	CCTCGGAG others(135): Show CCTCGGAGCTGGGTGCTGTGGGTGCGGGTGCCGTATTGGGTGGGAGCCGG GCGCTGTGGGTGCAGGTGCCATCTCGGAGCTGGGTGCTATGGGTGCGGGT GCCGTATTGGGTGGGAGCCGGGCGCTGTGGGTGCAGGTGCCAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp1 HG02145.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0046 a0001c0001t0033 a0001c0001t0046	a0001c0001t0033g0009 a0001c0001t0046g0346 a0001c0001t0033g0009 a0001c0001t0046g0346	2	376	0.0053	-142	c.218 others(17): Show c.218-6453_218-6312del	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BANP_chr16_87946434_88082316	88019540	GGGGGCGT others(135): Show GGGGGCGTCCGGGATCTCAGCGTGCGGGGGGCGGGGCGTCCGGGATCTCG GCGTGCGGGATCTCAGCGTGCGGGGGGCGTCCGGGCGTGCGGGATCTCAG CGTGCGGGGGGCGGGGCGTCCGGGATCTCAGCGTGCGGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0063 a0001c0005t0005g0063	1	352	0.0028	-142	c.895 others(16): Show c.895+912_895+1053del	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BCAT1_chr12_24805024_24954101	24835018	CTATTTTT others(135): Show CTATTTTTCATGCTAGCAAATCATTAGTGTGGGAAAGTATTTCCACTTGC AACTTGTCGTCGAACCTTCTGTACTTGGTTGATATTTTTCTTTAATAAAA CAAAAATTACTGAGCTTCAAAAATATCTTTCCAATTGCAAACA	C C	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0123 a0001c0001t0036g0123	1	322	0.0031	-142	c.903 others(17): Show c.903+1351_903+1492del	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	8/10			chr12	TogoVar
C7orf50_chr7_992006_1143247	1128641	CGTCACCC others(135): Show CGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCCTGTCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02895.hp2 HG02897.hp2 HG02630.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0012 a0001c0001t0011 a0001c0001t0012	a0001c0001t0011g0311 a0001c0001t0012g0310 a0001c0001t0012g0313 a0001c0001t0011g0311 a0001c0001t0012g0310 a0001c0001t0012g0313	3	326	0.0092	-142	c.-1- others(15): Show c.-1-1397_-1-1256del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227342	AAGGGGGT others(135): Show AAGGGGGTGTGGAAGACAGGAGGTGTGGGGGACAGACGGAGTGTGGGGGA CAGAGGGAGAGTCTGGGGGACAGAGGGGGTGTGGGGGACAGGAGGGGGTG TGGAAGACAGAGGAAGTGTGGGGGACAGAAGGGGGTATGGGGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00741.hp1 others(40): Show HG00323.hp1 HG00438.hp2 HG00741.hp1 HG01106.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG01943.hp2 HG02056.hp2 HG02071.hp2 HG02129.hp1 HG02148.hp1 HG02155.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02886.hp2 HG03017.hp1 HG03017.hp2 HG03688.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA19005.hp2 NA19067.hp1 NA19068.hp2 NA19081.hp1 NA19084.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0001c0015 a0001c0020 a0004c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001 a0001c0002t0006 a0001c0002t0009 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0007t0001 a0001c0007t0009 a0001c0008t0001 a0001c0015t0001 a0001c0020t0001 a0004c0018t0001	a0001c0001t0001g0062 a0001c0001t0004g0063 a0001c0001t0009g0234 others(39): Show a0001c0001t0001g0062 a0001c0001t0004g0063 a0001c0001t0009g0234 a0001c0002t0001g0043 a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0092 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0145 a0001c0002t0001g0151 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0181 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0195 a0001c0002t0001g0199 a0001c0002t0001g0208 a0001c0002t0001g0233 a0001c0002t0006g0003 a0001c0002t0006g0055 a0001c0002t0006g0115 a0001c0002t0006g0165 a0001c0002t0009g0085 a0001c0002t0009g0191 a0001c0002t0012g0044 a0001c0002t0012g0229 a0001c0002t0018g0082 a0001c0002t0019g0095 a0001c0002t0020g0074 a0001c0002t0021g0197 a0001c0007t0001g0051 a0001c0007t0009g0057 a0001c0008t0001g0012 a0001c0008t0001g0143 a0001c0008t0001g0202 a0001c0008t0001g0203 a0001c0015t0001g0073 a0001c0015t0001g0215 a0001c0020t0001g0235 a0004c0018t0001g0160	43	242	0.1777	-142	c.146 others(17): Show c.1469-840_1469-699del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CANT1_chr17_78986716_79014764	79004596	AGAGGGGA others(135): Show AGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGAGGGG AGCTGGGGGGGAGTTATGGAGCAAGGAGTTAGGGAGGGGGGAGTTAGGGA GATGGGAGTTAGGGAGAGGGGGGTTAGGGAGAGGGGAGTTAGG	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0197 a0001c0002t0003g0197	1	394	0.0025	-142	c.-14 others(19): Show c.-147+4926_-147+5067del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CCDC12_chr3_46916730_46981745	46973344	GCTCCATC others(135): Show GCTCCATCTCAAAAAAAAAAAAAAAAAATTAATCCCAGCTACTCGAGAGG CTGAGACAGGAAAATTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCT GAGATTGCACCATTGCATTCCAGCCTGGGCAACAAGAGCGAAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01891.hp2 others(2): Show HG01167.hp2 HG01169.hp1 HG01891.hp2 HG02109.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0001g0321 others(2): Show a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323	5	354	0.0141	-142	c.96+ others(15): Show c.96+3151_96+3292del	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCL17_chr16_57399767_57421063	57403204	AATATATA others(135): Show AATATATATAATATATATTATTATCTATAATATATATAATATATATTATT ATCTATAATATATATAATATATATTATTATCTATAATATATATAATATAT ATTATTATCTATAATATATATAATATATATTATTATCTATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01123.hp2 HG01891.hp2 others(43): Show HG01070.hp1 HG01123.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18956.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0027 others(12): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0059 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0122	46	388	0.1186	-142	c.-16 others(11): Show c.-1691_-1550del	CCL17	ENSG00000102970.11	transcript	ENST00000219244.9	protein_coding		1562		chr16	TogoVar
CDCP1_chr3_45077277_45151378	45108724	CATATATA others(135): Show CATATATATATGCATGTATACATATATATGCATGTATATATATATATGCA TGTATACATATATATGCATGTATATATATATATGCATGTATACATATATA TGCATGTATATATATATATGCATGTATACATATATATGCATGT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0040 a0007c0011t0040	a0007c0011t0040g0152 a0007c0011t0040g0152	1	384	0.0026	-142	c.102 others(19): Show c.1024+1607_1024+1748del	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	4/8			chr3	TogoVar
CDYL_chr6_4771404_4960544	4895330	TATGTGCA others(135): Show TATGTGCATATATGCATGTATGTATATATGTGCATATATGCATGTATGTA TATATGTGCATATATGCATGTATACATGTATACGTATATATGCATGTATA CATGTATACGTATATATGCATATATACATGTATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02280.hp1 others(13): Show HG01891.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02647.hp2 HG02809.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03209.hp1 HG03471.hp2 HG06807.hp2 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0002t0006	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0115 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0047 a0001c0001t0002g0112 a0001c0001t0002g0131 a0001c0001t0002g0228 a0001c0001t0005g0122 a0001c0002t0002g0001 a0001c0002t0002g0117 a0001c0002t0002g0169 a0001c0002t0002g0247 a0001c0002t0006g0246	16	250	0.0640	-142	c.691 others(17): Show c.691+2952_691+3093del	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6			chr6	TogoVar
CENPVL3_chrX_51612020_51623912	51621548	CTTCTTCT others(135): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00558.hp1 others(39): Show HG00099.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01346.hp2 HG01361.hp2 HG01928.hp1 HG02080.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02572.hp1 HG02723.hp1 HG02886.hp1 HG02922.hp1 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp2 HG03710.hp1 NA18941.hp1 NA18942.hp1 NA18950.hp1 NA18963.hp2 NA18968.hp1 NA18975.hp1 NA18977.hp1 NA18985.hp1 NA18991.hp2 NA19060.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19080.hp2 NA19083.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007	a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0002t0002g0000 others(1): Show a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0007g0000	42	298	0.1409	-142	c.-28 others(11): Show c.-2817_-2676del	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2637		chrX	TogoVar
CEP41_chr7_130388771_130446016	130391425	GCTAAAAG others(135): Show GCTAAAAGACAATTTTGGAAAATATTGCAACTTAAAAATGAAAGTATTGA TATGAAAATAAGTATTAATAACCTAAAAGACAATTTTGGAAAATATTGCA ACTTAAAAATGAAAGTATTGATATGAAAATAAGTATTAATAAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01934.hp1 HG02165.hp2 others(3): Show HG00558.hp2 HG01934.hp1 HG02165.hp2 NA18969.hp2 NA18983.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0007 a0001c0001t0013g0028 a0001c0001t0013g0029 others(2): Show a0001c0001t0013g0007 a0001c0001t0013g0028 a0001c0001t0013g0029 a0001c0001t0013g0030 a0001c0001t0013g0168	6	346	0.0173	-142	c.73 others(11): Show c.7324_*7465del	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding		2345		chr7	TogoVar
CHD5_chr1_6096787_6185321	6160207	TAGCCAGG others(135): Show TAGCCAGGGAAGGGCCCCAGCCAGAGAAGGGCCCCAGCCAGAGAAGGAGA GCCCCAGCCAGGGAAGGGCCCCAGCCAGAGAAGAAGAACCCCAGCCAGGG AAGGGCCCCAGCCAGGGAAGGGCCCCAGCAAGGGAAGAGCCCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02109.hp2 HG01167.hp2 HG01169.hp1 HG02109.hp2	a0001 a0001	a0001c0019 a0001c0024 a0001c0019 a0001c0024	a0001c0019t0011 a0001c0024t0012 a0001c0019t0011 a0001c0024t0012	a0001c0019t0011g0201 a0001c0024t0012g0003 a0001c0019t0011g0201 a0001c0024t0012g0003	3	320	0.0094	-142	c.208 others(15): Show c.208-834_208-693del	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar
CHD5_chr1_6096787_6185321	6160256	AGCCCCAG others(135): Show AGCCCCAGCCAGGGAAGGGCCCCAGCCAGAGAAGAAGAACCCCAGCCAGG GAAGGGCCCCAGCCAGGGAAGGGCCCCAGCAAGGGAAGAGCCCCAGCCAG GGAAGGGCCCCAGCCAGAGAAGAAGAGCCCTAGCCAGGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0197 a0001c0007t0005g0197	1	320	0.0031	-142	c.208 others(15): Show c.208-883_208-742del	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar
CHD5_chr1_6096787_6185321	6160268	GGAAGGGC others(135): Show GGAAGGGCCCCAGCCAGAGAAGAAGAACCCCAGCCAGGGAAGGGCCCCAG CCAGGGAAGGGCCCCAGCAAGGGAAGAGCCCCAGCCAGGGAAGGGCCCCA GCCAGAGAAGAAGAGCCCTAGCCAGGGAAGGGCCCCAGCCAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp2 HG01167.hp1 others(23): Show HG00140.hp1 HG01070.hp2 HG01167.hp1 HG01255.hp1 HG01256.hp1 HG01496.hp2 HG01928.hp2 HG01975.hp2 HG02071.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02451.hp1 HG02615.hp2 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG03195.hp2 HG03540.hp1 HG03669.hp2 HG04115.hp1 HG04184.hp2 NA18522.hp2 NA18943.hp1 NA18962.hp2 NA19043.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0007 a0001c0009 others(7): Show a0001c0001 a0001c0007 a0001c0009 a0001c0010 a0001c0029 a0001c0030 a0001c0036 a0002c0002 a0002c0022 a0004c0037	a0001c0001t0007 a0001c0001t0068 a0001c0007t0003 others(16): Show a0001c0001t0007 a0001c0001t0068 a0001c0007t0003 a0001c0007t0005 a0001c0007t0044 a0001c0007t0058 a0001c0007t0059 a0001c0009t0011 a0001c0009t0079 a0001c0010t0003 a0001c0010t0004 a0001c0010t0014 a0001c0010t0080 a0001c0029t0076 a0001c0030t0029 a0001c0036t0006 a0002c0002t0001 a0002c0022t0001 a0004c0037t0065	a0001c0001t0007g0078 a0001c0001t0068g0085 a0001c0007t0003g0067 others(23): Show a0001c0001t0007g0078 a0001c0001t0068g0085 a0001c0007t0003g0067 a0001c0007t0003g0068 a0001c0007t0003g0284 a0001c0007t0003g0287 a0001c0007t0005g0041 a0001c0007t0005g0140 a0001c0007t0005g0141 a0001c0007t0005g0246 a0001c0007t0044g0016 a0001c0007t0058g0028 a0001c0007t0059g0029 a0001c0009t0011g0240 a0001c0009t0011g0252 a0001c0009t0079g0308 a0001c0010t0003g0044 a0001c0010t0004g0030 a0001c0010t0014g0242 a0001c0010t0080g0303 a0001c0029t0076g0309 a0001c0030t0029g0211 a0001c0036t0006g0210 a0002c0002t0001g0244 a0002c0022t0001g0023 a0004c0037t0065g0125	26	320	0.0813	-142	c.208 others(15): Show c.208-895_208-754del	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar
CLDN8_chr21_30209006_30221097	30210219	CATATATA others(135): Show CATATATATATATATATATATATATATAGTCTCCCTAATTGTAATTCAAG GTACGTATGTGTATATATATATATATATATATATATATATATATATATAT ATATATATATAGTCTCCCTAATTCTAATTCAAGGTACATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	-142	c.48 others(11): Show c.4887_*5028del	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3786		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210272	CGTATGTG others(135): Show CGTATGTGTATATATATATATATATATATATATATATATATATATATATA TATATATAGTCTCCCTAATTCTAATTCAAGGTACATATATATATATATAT ATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG02602.hp1 HG04228.hp2 HG00140.hp2 HG02602.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	466	0.0064	-142	c.48 others(11): Show c.4834_*4975del	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3733		chr21	TogoVar
CLN8_chr8_1758789_1791570	1763480	CCGCGCCC others(135): Show CCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCC GCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCC CGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCGCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 NA18988.hp2 HG02155.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0108 a0001c0001t0005 a0001c0001t0108	a0001c0001t0005g0082 a0001c0001t0108g0119 a0001c0001t0005g0082 a0001c0001t0108g0119	2	413	0.0048	-142	c.-52 others(9): Show c.-528_-387del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		308		chr8	TogoVar
COL4A2_chr13_110302284_110518209	110408892	TTTACACA others(135): Show TTTACACACATGCAGATATACACATGCACACACACGTACACACGCACACA TATATACACGGACACATACACATAACGCACATATACACACACATGCACAC ACGCACACATACACACACACATACACATGGACACGCGCACACG	T T	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0081 a0001c0008t0003g0081	1	372	0.0027	-142	c.181 others(19): Show c.181-15839_181-15698del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CPA1_chr7_130375494_130393108	130391425	GCTAAAAG others(135): Show GCTAAAAGACAATTTTGGAAAATATTGCAACTTAAAAATGAAAGTATTGA TATGAAAATAAGTATTAATAACCTAAAAGACAATTTTGGAAAATATTGCA ACTTAAAAATGAAAGTATTGATATGAAAATAAGTATTAATAAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02165.hp2 NA18969.hp2 others(3): Show HG00558.hp1 HG02165.hp2 NA18969.hp2 NA18983.hp1 NA19064.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0012 a0001c0001t0004g0012 a0001c0001t0004g0052 a0001c0001t0001g0012 a0001c0001t0004g0012 a0001c0001t0004g0052	6	434	0.0138	-142	c.34 others(11): Show c.3415_*3556del	CPA1	ENSG00000091704.10	transcript	ENST00000011292.8	protein_coding		3318		chr7	TogoVar
CSMD1_chr8_2930361_4999914	3772469	ACATATAT others(135): Show ACATATATATACATATATACACATATATACATATATACACATATATACAT ATATACACATATATACATATATACACATATATACATATATACATATATAT ACATATATACACATATATTTATATACATATATACACATATATT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0033 a0033	a0033c0042 a0033c0042	a0033c0042t0004 a0033c0042t0004	a0033c0042t0004g0004 a0033c0042t0004g0004	1	126	0.0079	-142	c.819 others(19): Show c.819-18569_819-18428del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
DDX51_chr12_132131594_132149319	132135320	CCCGAGTG others(135): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACG GTGCCCGCTACCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCT CCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG03471.hp1 HG02257.hp1 HG03471.hp1	a0004 a0004	a0004c0004 a0004c0012 a0004c0004 a0004c0012	a0004c0004t0039 a0004c0012t0013 a0004c0004t0039 a0004c0012t0013	a0004c0004t0039g0082 a0004c0012t0013g0018 a0004c0004t0039g0082 a0004c0012t0013g0018	2	334	0.0060	-142	c.38 others(11): Show c.3810_*3951del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1273		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135404	ACGGTGCC others(135): Show ACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTAC CTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGA GTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 NA18940.hp1 NA18959.hp2 others(1): Show HG02602.hp2 NA18940.hp1 NA18959.hp2 NA19002.hp2	a0002 a0009 a0002 a0009	a0002c0005 a0009c0013 a0002c0005 a0009c0013	a0002c0005t0005 a0009c0013t0005 a0002c0005t0005 a0009c0013t0005	a0002c0005t0005g0090 a0009c0013t0005g0033 a0009c0013t0005g0087 a0002c0005t0005g0090 a0009c0013t0005g0033 a0009c0013t0005g0087	4	334	0.0120	-142	c.37 others(11): Show c.3726_*3867del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1189		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136150	CGCTCCTC others(135): Show CGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCT CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACG GTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0050 a0002c0002t0034g0050	1	334	0.0030	-142	c.29 others(11): Show c.2980_*3121del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		443		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136186	CGCTCCTC others(135): Show CGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACG GTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02280.hp2 HG01175.hp1 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0004	2	334	0.0060	-142	c.29 others(11): Show c.2944_*3085del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		407		chr12	TogoVar
DEPDC1B_chr5_60591912_60705166	60696798	GACATACA others(135): Show GACATACACCTACTGCTGTGCATCCTGTTCTTTTCTCCAGGATATTCCAT TTCATTTCTTCTTAGTACCAAAAATATTATGATAGCGGTGCTATAAAGAA AACTGACTGGTCTGGGAGTTCAGTGACAACCACTCCTAGATCT	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	292	0.0034	-142	c.48+ others(15): Show c.48+3106_48+3247del	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	1/10			chr5	TogoVar
DHRS12_chr13_51762993_51809163	51775302	CCTACAGT others(135): Show CCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTAT TCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATGT ATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03491.hp2 HG03492.hp2 others(4): Show HG01433.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp1 NA18997.hp2 NA19005.hp1 NA19074.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 a0001c0001t0001 a0001c0001t0002 a0003c0003t0002	a0001c0001t0001g0115 a0001c0001t0002g0061 a0001c0001t0002g0266 others(3): Show a0001c0001t0001g0115 a0001c0001t0002g0061 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0279 a0003c0003t0002g0201	7	420	0.0167	-142	c.364 others(17): Show c.364-1410_364-1269del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DNHD1_chr11_6492280_6577020	6552096	AATGGATA others(135): Show AATGGATAATAAGGGAAAATTATGAAAAACTTTATGCTAATAAATTTAGC AACTTAGGTGAAATGGATACATGCTGTATTAGTCTGTTTTCACACTGCAA TAAAGAACTACTTGAGACTGGGTAATTCATAAAGAAAAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18983.hp1 NA19012.hp1 others(1): Show HG04228.hp2 NA18983.hp1 NA19012.hp1 NA19080.hp1	a0024 a0026 a0024 a0026	a0024c0020 a0026c0021 a0024c0020 a0026c0021	a0024c0020t0001 a0026c0021t0001 a0024c0020t0001 a0026c0021t0001	a0024c0020t0001g0007 a0026c0021t0001g0266 a0026c0021t0001g0302 a0024c0020t0001g0007 a0026c0021t0001g0266 a0026c0021t0001g0302	4	342	0.0117	-142	c.738 others(19): Show c.7387+3164_7387+3305del	DNHD1	ENSG00000179532.13	transcript	ENST00000254579.11	protein_coding	24/42			chr11	TogoVar
DOC2B_chr17_137789_186650	141172	CTTGGTGA others(135): Show CTTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAG GGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATAGGGGGGCCTTGGTGAGGGGACATGGGGGGGACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG02071.hp1 HG02080.hp1 others(12): Show HG00280.hp1 HG02071.hp1 HG02080.hp1 HG02723.hp1 NA18522.hp1 NA18612.hp1 NA18943.hp2 NA18944.hp2 NA18973.hp1 NA18986.hp2 NA18994.hp2 NA18998.hp1 NA19003.hp2 NA19005.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0052 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0052 a0001c0001t0053 a0001c0002t0002	a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0126 others(9): Show a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0174 a0001c0001t0002g0213 a0001c0001t0002g0223 a0001c0001t0005g0004 a0001c0001t0052g0119 a0001c0001t0053g0242 a0001c0002t0002g0230	15	339	0.0443	-142	c.61 others(11): Show c.6127_*6268del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1616		chr17	TogoVar
DOCK8_chr9_209865_470255	400346	CCACCACC others(135): Show CCACCACCTCCTCCACCATCACCACCTCCTTCACCATCACCATCACCACC ACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCAC CACCAGCATCTTCACCATCACCACCACCCACCTCCTTCACCAT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0185 a0006c0010t0001g0185	1	256	0.0039	-142	c.323 others(19): Show c.3234+1095_3234+1236del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPH7_chr9_137549444_137583925	137568174	TCTGTCTG others(135): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	340	0.0029	-142	c.641 others(17): Show c.641-3162_641-3021del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403279	GAGAAACA others(135): Show GAGAAACAGAAGGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGGA GAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAA AGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00597.hp1 others(35): Show HG00423.hp1 HG00544.hp1 HG00597.hp1 HG02015.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02738.hp1 HG02886.hp2 HG03017.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03831.hp2 HG03834.hp1 NA18942.hp1 NA18954.hp1 NA18961.hp2 NA18964.hp1 NA18969.hp2 NA18972.hp2 NA18973.hp1 NA18988.hp1 NA19006.hp2 NA19010.hp1 NA19054.hp2 NA19067.hp1 NA19070.hp2 NA19085.hp2 NA19090.hp1 NA20805.hp2 NA21309.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0004 a0003c0017 a0006c0012 others(1): Show a0001c0004 a0003c0017 a0006c0012 a0007c0011	a0001c0004t0002 a0001c0004t0004 a0003c0017t0004 others(2): Show a0001c0004t0002 a0001c0004t0004 a0003c0017t0004 a0006c0012t0004 a0007c0011t0004	a0001c0004t0002g0022 a0001c0004t0002g0034 a0001c0004t0002g0198 others(13): Show a0001c0004t0002g0022 a0001c0004t0002g0034 a0001c0004t0002g0198 a0001c0004t0002g0203 a0001c0004t0002g0204 a0001c0004t0004g0003 a0001c0004t0004g0028 a0001c0004t0004g0072 a0001c0004t0004g0073 a0001c0004t0004g0074 a0001c0004t0004g0075 a0001c0004t0004g0076 a0001c0004t0004g0077 a0003c0017t0004g0071 a0006c0012t0004g0027 a0007c0011t0004g0026	38	412	0.0922	-142	c.120 others(17): Show c.1209-534_1209-393del	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403327	GAGAAAGG others(135): Show GAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAG AAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGAAGAAA GGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGGA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0009 a0009	a0009c0028 a0009c0028	a0009c0028t0021 a0009c0028t0021	a0009c0028t0021g0135 a0009c0028t0021g0135	1	412	0.0024	-142	c.120 others(17): Show c.1209-582_1209-441del	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
EXOC6B_chr2_72170984_72831033	72401504	TATATATA others(135): Show TATATATATATACATATATACATATATATATATATATATATGTGTATATA TATATATATATACATATATATATATATACATATATATATATATATATATG TGTATATATATATATATACATATATATATATATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0033 a0001c0001t0008g0033	1	104	0.0096	-142	c.198 others(21): Show c.1981-21776_1981-21635del	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
FBN2_chr5_128252909_128543245	128539832	TATATGAT others(135): Show TATATGATATATCATATATATGATAGATCATATATATCATATATATGATA TATGATATATGATATATATGATAGATCATATATGATCTATCATATATATC ATATATCATATATATCATATATATCATATATATCATATATATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0102 a0002c0002t0005g0102	1	236	0.0042	-142	c.-23 others(11): Show c.-2371_-2230del	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1588		chr5	TogoVar
FBXL17_chr5_107854035_108387098	108333026	TCAAAAAT others(135): Show TCAAAAATAGATATAAAATCTTATATAAGAAGTTCTAAGTCAAACTACCT TAAAATGAAAGCCGAAGCAAAACATACAATAATTTATAAGCAAATTTTGC TTAAGTCAAACCAGAAATACCAGTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01884.hp2 HG02145.hp1 others(9): Show HG01192.hp2 HG01884.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02572.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp2 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0055 a0001c0002t0013	a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0219 others(9): Show a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0219 a0001c0001t0002g0091 a0001c0001t0003g0089 a0001c0001t0004g0087 a0001c0001t0004g0215 a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0015g0092 a0001c0001t0055g0082 a0001c0002t0013g0032	12	244	0.0492	-142	c.150 others(21): Show c.1506+15231_1506+15372del	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	4/8			chr5	TogoVar
FBXL7_chr5_15495180_15944793	15935240	CCATCCCG others(135): Show CCATCCCGAGGCTTTGCACAGGGGCAAGCTTCGAGTTCCGTTTTCCAAGA CACCTCGGGCAGATAGGGGTGTGGGGAATCGACTGTAGGAGCTAAGGGCA GGGAAGGGAGTCTGATTCAAGGACACCTGGAGTGAACGGGCGT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02572.hp2 HG02615.hp2 others(2): Show HG01074.hp1 HG02572.hp2 HG02615.hp2 HG03130.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0005 a0001c0001t0018 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0018 a0001c0005t0003 a0001c0005t0011	a0001c0001t0003g0056 a0001c0001t0005g0097 a0001c0001t0018g0119 others(2): Show a0001c0001t0003g0056 a0001c0001t0005g0097 a0001c0001t0018g0119 a0001c0005t0003g0113 a0001c0005t0011g0105	5	122	0.0410	-142	c.740 others(16): Show c.740-1017_740-876del	FBXL7	ENSG00000183580.10	transcript	ENST00000504595.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
FNDC11_chr20_63549159_63561695	63559398	CAGTCAGG others(135): Show CAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGT CAGGTGGGAGTCAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGA GGAGTCAGGGTCAGATGGGAGTCAGTCAGAGTCAGGTGGGAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02970.hp1 HG02622.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0002 a0001c0004t0001g0002	2	416	0.0048	-142	c.27 others(11): Show c.2779_*2920del	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding		2704		chr20	TogoVar
FNDC3B_chr3_172034578_172406669	172338889	ACTAGGCC others(135): Show ACTAGGCCGGCTAATTTTTTTTGAATTTTTAGTAGAGACGGGGTTTCACC GTTTTACCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCACCCACCTC GGTCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCC	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0121 a0001c0002t0048g0121	1	196	0.0051	-142	c.185 others(19): Show c.1852+1490_1852+1631del	FNDC3B	ENSG00000075420.13	transcript	ENST00000415807.7	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr3	TogoVar
GABRG3_chr15_26966181_27546984	27305819	TTATATAT others(135): Show TTATATATAAACATATATAATATAAACCTATATGTTTATATATAAACATA TATAATATAAACCTATATGTTTATATATAAACATATATAATATAAACCTA TATGTTTATATATAAACATATATAATATAAACCTATATGTTTA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0037	a0001c0003t0037g0018 a0001c0003t0037g0018	1	92	0.0109	-142	c.271 others(19): Show c.271-20983_271-20842del	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar

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