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
OR2T6_chr1_248370746_248396811	248383182	ATCATGGA others(197): Show ATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGTTCATCCTATCCTGAA GTGTATCCTAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTG TGCTCATCCTATCCTGATGTGTTTCCTAATGTTATTGTCATGGGTAAAGC ACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGT TATCG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	401	0.0025	-204	c.-15 others(19): Show c.-158-1495_-158-1292del	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2T6_chr1_248370746_248396811	248383367	TGTGTTTC others(197): Show TGTGTTTCCTAGTGTTATCGTCATGGAGAAAGCACTGCACTAGCCTGAGT GTGCTCATCCTATCCTGAAGTGTTTCCTAGTGTTATCATCATGGAGAAAG CACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTG TTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTCTC CTGAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp1 HG01261.hp1 others(18): Show HG01099.hp2 HG01109.hp1 HG01261.hp1 HG01981.hp2 HG02055.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02717.hp1 HG02818.hp1 HG02965.hp1 HG03041.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp1 HG03579.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2	a0002 a0004 a0008 others(1): Show a0002 a0004 a0008 a0010	a0002c0002 a0004c0004 a0008c0014 others(1): Show a0002c0002 a0004c0004 a0008c0014 a0010c0013	a0002c0002t0005 a0002c0002t0008 a0002c0002t0035 others(4): Show a0002c0002t0005 a0002c0002t0008 a0002c0002t0035 a0004c0004t0007 a0004c0004t0024 a0008c0014t0031 a0010c0013t0005	a0002c0002t0005g0007 a0002c0002t0008g0019 a0002c0002t0008g0029 others(6): Show a0002c0002t0005g0007 a0002c0002t0008g0019 a0002c0002t0008g0029 a0002c0002t0008g0055 a0002c0002t0035g0019 a0004c0004t0007g0032 a0004c0004t0024g0032 a0008c0014t0031g0059 a0010c0013t0005g0056	21	389	0.0540	-204	c.-15 others(19): Show c.-158-1333_-158-1130del	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OTUD7A_chr15_31470398_31875673	31510605	AACATACA others(197): Show AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACAT	A A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0180 a0001c0001t0028g0180	1	178	0.0056	-204	c.894 others(17): Show c.894-6991_894-6788del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31510630	AACATACA others(197): Show AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACAT	A A	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0046 a0001c0001t0079g0046	1	235	0.0043	-204	c.894 others(17): Show c.894-7016_894-6813del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
P2RX5_chr17_3668227_3701155	3686236	TCCCCCGC others(197): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCC CCCGC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	355	0.0028	-204	c.981 others(17): Show c.981+1572_981+1775del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686319	GAGAACAG others(197): Show GAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAAC GCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCA GCCTC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02071.hp1 HG02080.hp2 HG01891.hp2 HG02071.hp1 HG02080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0055 a0001c0001t0001g0115 a0002c0002t0001g0001 a0001c0001t0001g0055 a0001c0001t0001g0115 a0002c0002t0001g0001	3	251	0.0120	-204	c.981 others(17): Show c.981+1489_981+1692del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686401	GCACAGCG others(197): Show GCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCA GCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACG TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGA GAACA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	325	0.0031	-204	c.981 others(17): Show c.981+1407_981+1610del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686476	GGGGCCCC others(197): Show GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCA CAGCT	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18998.hp1 NA19055.hp1 others(1): Show NA18944.hp1 NA18998.hp1 NA19055.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0318 a0002c0002t0002g0006 a0002c0002t0002g0318	4	307	0.0130	-204	c.981 others(17): Show c.981+1332_981+1535del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686637	TCCCCCGC others(197): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCC CCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACA CAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCC CCCGC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	352	0.0028	-204	c.981 others(17): Show c.981+1171_981+1374del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687296	TCCCCCGC others(197): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCC CCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACA CAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCC CCCGC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG02738.hp2 others(4): Show HG01099.hp1 HG01099.hp2 HG02738.hp2 HG03239.hp1 HG03710.hp1 HG04184.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0001g0123 a0001c0001t0001g0138 others(4): Show a0001c0001t0001g0027 a0001c0001t0001g0123 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0002g0139	7	356	0.0197	-204	c.981 others(15): Show c.981+512_981+715del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687425	TCCCCCGC others(197): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCC CCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGA GAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCC TGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCC CCCGC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	356	0.0028	-204	c.981 others(15): Show c.981+383_981+586del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687622	TCCCCCGC others(197): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGACCC CCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGA GAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCC TGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCC CCCGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	359	0.0028	-204	c.981 others(15): Show c.981+186_981+389del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PCNT_chr21_46319156_46450769	46382824	GCATTCAC others(197): Show GCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCCCATTCATGGTGTTGT GCATTCAGTGGCGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCGGAA GTGCATTCACAGTGTTGTATATTCAGTGACGGAAGCGCATTCACAGTGCT GTGCATTCAGTGGCGGAAGCCCATTCACGGTGTTGTGCATTCAGTGGCGG AAGCC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01433.hp1 HG01515.hp1 others(40): Show HG01109.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG02055.hp2 HG02109.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0004 a0006 a0016 others(7): Show a0004 a0006 a0016 a0023 a0033 a0034 a0040 a0044 a0047 a0066	a0004c0004 a0004c0023 a0004c0071 others(12): Show a0004c0004 a0004c0023 a0004c0071 a0006c0008 a0006c0016 a0006c0024 a0006c0069 a0016c0025 a0023c0034 a0033c0073 a0034c0074 a0040c0072 a0044c0068 a0047c0070 a0066c0053	a0004c0004t0001 a0004c0004t0003 a0004c0004t0006 others(14): Show a0004c0004t0001 a0004c0004t0003 a0004c0004t0006 a0004c0023t0003 a0004c0071t0001 a0006c0008t0001 a0006c0016t0001 a0006c0024t0001 a0006c0069t0001 a0016c0025t0001 a0023c0034t0001 a0033c0073t0001 a0034c0074t0001 a0040c0072t0001 a0044c0068t0001 a0047c0070t0001 a0066c0053t0001	a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0097 others(40): Show a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0097 a0004c0004t0001g0098 a0004c0004t0001g0099 a0004c0004t0001g0100 a0004c0004t0001g0101 a0004c0004t0001g0103 a0004c0004t0001g0104 a0004c0004t0001g0105 a0004c0004t0001g0106 a0004c0004t0001g0111 a0004c0004t0003g0120 a0004c0004t0006g0102 a0004c0023t0003g0092 a0004c0023t0003g0093 a0004c0023t0003g0094 a0004c0071t0001g0107 a0006c0008t0001g0084 a0006c0008t0001g0085 a0006c0008t0001g0086 a0006c0008t0001g0087 a0006c0008t0001g0088 a0006c0008t0001g0089 a0006c0016t0001g0113 a0006c0016t0001g0114 a0006c0016t0001g0115 a0006c0016t0001g0117 a0006c0024t0001g0070 a0006c0024t0001g0072 a0006c0024t0001g0073 a0006c0069t0001g0096 a0016c0025t0001g0095 a0016c0025t0001g0118 a0016c0025t0001g0119 a0023c0034t0001g0323 a0023c0034t0001g0324 a0033c0073t0001g0112 a0034c0074t0001g0109 a0040c0072t0001g0108 a0044c0068t0001g0071 a0047c0070t0001g0116 a0066c0053t0001g0325	43	330	0.1303	-204	c.331 others(18): Show c.3312+992_3312+1195del	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNX1_chr14_70902459_71120382	71068635	TATACATA others(197): Show TATACATATATTGTTGCATGTATAGTCACAAGCAAAATTACAGTTATTTT TTATGTGAACATATACATGCATATATGTATGTATATATAATATACAAATA ACATTTATATATTTTATATACATTATATATTATGTATACTTCTACACATA CATACATATATGGATATATACATTTTGTATACATGTATATAAGTTCACAT AAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01074.hp2 others(25): Show HG00140.hp2 HG00639.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01496.hp1 HG01891.hp1 HG01952.hp2 HG02040.hp2 HG02145.hp1 HG02280.hp2 HG02293.hp1 HG02622.hp2 HG02723.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03486.hp1 HG03540.hp1 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG04228.hp1 NA18906.hp2 NA18948.hp1 NA18988.hp2 NA19081.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0013 a0001c0001 a0001c0003 a0001c0013	a0001c0001t0002 a0001c0001t0017 a0001c0001t0024 others(5): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0024 a0001c0001t0038 a0001c0001t0044 a0001c0001t0045 a0001c0003t0013 a0001c0013t0031	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0020 others(25): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0002g0119 a0001c0001t0017g0023 a0001c0001t0024g0040 a0001c0001t0024g0041 a0001c0001t0038g0032 a0001c0001t0044g0011 a0001c0001t0045g0008 a0001c0003t0013g0134 a0001c0003t0013g0136 a0001c0003t0013g0137 a0001c0003t0013g0138 a0001c0003t0013g0139 a0001c0003t0013g0140 a0001c0003t0013g0141 a0001c0003t0013g0142 a0001c0003t0013g0143 a0001c0003t0013g0144 a0001c0013t0031g0348 a0001c0013t0031g0349	28	350	0.0800	-204	c.485 others(19): Show c.4853-4906_4853-4703del	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	26/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKAA1_chr5_40754389_40803374	40800661	CGCCTGGC others(197): Show CGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTATCCAG GAGATGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02976.hp1 HG03139.hp1 others(4): Show HG02280.hp1 HG02976.hp1 HG03139.hp1 HG03225.hp2 HG03540.hp1 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0257 a0001c0001t0003g0258 others(2): Show a0001c0001t0003g0018 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260	7	389	0.0180	-204	c.-26 others(11): Show c.-2676_-2473del	PRKAA1	ENSG00000132356.12	transcript	ENST00000397128.7	protein_coding		2288		chr5	TogoVar
PRKCZ_chr1_2045411_2190395	2122571	GGTGGTTA others(197): Show GGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGG TGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCG GTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGT TAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTA GGGTT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03139.hp1 HG02809.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0236 a0001c0001t0002g0045 a0001c0001t0001g0236 a0001c0001t0002g0045	2	239	0.0084	-204	c.335 others(19): Show c.335-12685_335-12482del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKD1_chr14_29571479_29932847	29826257	TATATATA others(197): Show TATATATATACATATATATGATGGAATATATATATACATATATATGATGG AATATATATATACATATATATGATGGAATATATATATACATATATATGAT GGAATATATATATACATATATATGATGGAATATATATATACATATATATG ATGGAATATATATATACATATATGATGGAATATATATATACATATATATG ATGGA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01099.hp2 HG01175.hp1 others(24): Show HG01071.hp2 HG01099.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01981.hp2 HG02074.hp1 HG02165.hp1 HG02486.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 NA18968.hp2 NA18975.hp1 NA18988.hp2 NA19063.hp1 NA19079.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0010 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0007t0011 a0001c0010t0001 a0002c0005t0001	a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0047 others(24): Show a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0094 a0001c0001t0002g0040 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0003g0151 a0001c0001t0004g0146 a0001c0002t0001g0103 a0001c0002t0001g0125 a0001c0002t0002g0030 a0001c0002t0002g0036 a0001c0002t0002g0086 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0007t0011g0013 a0001c0010t0001g0012 a0002c0005t0001g0128	27	156	0.1731	-204	c.265 others(21): Show c.265-100787_265-100584del	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
PTPRM_chr18_7562316_8411856	7691946	GGGAGGAT others(197): Show GGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGAGGATGGCTAGAT CCCAGGAGGTTAAGGAGGTGGAGGATGGCTAGATCCCAGGAGGTTAAGGA GGTGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGAGGATGGCTAG ATCCCAGGAGGTTAAGGAGGTGGAGGATGGCTAGATCCCAGGAGGTTAAG GAGGT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0012 a0001c0006t0002g0012	1	58	0.0172	-204	c.74- others(17): Show c.74-81934_74-81731del	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
RIMBP2_chr12_130391133_130721299	130646089	CCCTCTCC others(197): Show CCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCC CTCACCACCTGCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCT CACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCT CCACCTCCCTCACCACTTCCCTCTCCACCTGCCTCACCACCTCCCTCACC ACCTG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02109.hp2 HG00741.hp1 HG02109.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0026 a0001c0003 a0002c0026	a0001c0003t0001 a0002c0026t0001 a0001c0003t0001 a0002c0026t0001	a0001c0003t0001g0116 a0002c0026t0001g0117 a0001c0003t0001g0116 a0002c0026t0001g0117	2	169	0.0118	-204	c.-35 others(21): Show c.-351-17837_-351-17634del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646226	ACCACCTG others(197): Show ACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTGCCTCAC CACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCA CCTGCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACC TCCCTCACCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTC CCTCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00639.hp1 others(8): Show HG00099.hp2 HG00280.hp2 HG00639.hp1 HG01361.hp1 HG01433.hp1 HG02148.hp1 HG02165.hp2 HG03704.hp1 HG03704.hp2 NA18950.hp2 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0005c0015	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0011t0001 a0005c0015t0001	a0001c0001t0001g0106 a0001c0001t0001g0141 a0001c0002t0001g0019 others(8): Show a0001c0001t0001g0106 a0001c0001t0001g0141 a0001c0002t0001g0019 a0001c0002t0001g0049 a0001c0002t0001g0151 a0001c0005t0001g0045 a0001c0007t0001g0132 a0001c0008t0001g0137 a0001c0011t0001g0125 a0001c0011t0001g0159 a0005c0015t0001g0066	11	158	0.0696	-204	c.-35 others(21): Show c.-351-17974_-351-17771del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RNF213_chr17_80255852_80403794	80314398	AGGTGGTG others(197): Show AGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTA ATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGAGGTGATGGT GGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGG AGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTAATGGAG GTGAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0059 a0059	a0059c0131 a0059c0131	a0059c0131t0003 a0059c0131t0003	a0059c0131t0003g0010 a0059c0131t0003g0010	1	288	0.0035	-204	c.281 others(19): Show c.2811+1273_2811+1476del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPGRIP1_chr14_21275083_21356301	21318186	AACCTTCA others(197): Show AACCTTCACCTCCCAGGTACAAGCGATTCTCCTATCTCAGCCTCCCAAGT AGCTCGGATTACAAGCATGCACTACCACGCCTGGCTATTTTTTTTTTTTT GTATTTAGTAGAGATGGGGTTTTACCATGTTAGTTAGGCTGGTCGTGAAC TCCTGACCTCAGATGATCCACCAGCCTCAGCTTCCCAAAGTGCTGGGATT ACAGG	A A	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	330	0.0030	-204	c.130 others(17): Show c.1306+337_1306+540del	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	11/24			chr14	TogoVar
SCN11A_chr3_38840764_39056944	38877116	ATATATAT others(197): Show ATATATATGGTGTATATACTATATATATGGTATATATATGGTGTATATAC TATATATATGGTATATATATGGTGTATATACTATATATATGGTATATATA TGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATATAT ATGGTATATATATGGTGTATATACTATATATATGGTATATATATGGTGTA TATAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0281 a0001c0001t0003g0281	1	309	0.0032	-204	c.339 others(19): Show c.3393+2630_3393+2833del	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1288775	CCGTGTCT others(197): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	285	0.0035	-204	c.166 others(17): Show c.1662+740_1662+943del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444404	TGAATATA others(197): Show TGAATATATATACCCATATACGTATGAATATACACATATATATACGTACG TATATATATACACATATATACGTACGTATATATATACACATATATACGTA CGTATATATATACACATATATACGTACGAATATATATACACATATATACG TACGAATATATATACACATATATACGTACGAATATATATACACATATATA CGTAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	288	0.0035	-204	c.114 others(19): Show c.1140+2151_1140+2354del	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SDK1_chr7_3296252_4274000	3976213	CAGAGGGT others(197): Show CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GTAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGATCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03225.hp2 HG02922.hp2 HG03225.hp2	a0001 a0001	a0001c0017 a0001c0025 a0001c0017 a0001c0025	a0001c0017t0011 a0001c0025t0024 a0001c0017t0011 a0001c0025t0024	a0001c0017t0011g0051 a0001c0025t0024g0089 a0001c0017t0011g0051 a0001c0025t0024g0089	2	115	0.0174	-204	c.199 others(19): Show c.1994+1719_1994+1922del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNTG2_chr2_945849_1372613	1093885	GGTTACTG others(197): Show GGTTACTGGCAAGGGCTGCCTTCCTGGCTTGCAGGCGAAGGCCTTATAGG TGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCTGGCTTCCTGGACTGC AGGCGAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGG GCCAGCTTCCTGGCTTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATG GTAGA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp1 HG02451.hp2 others(6): Show HG01099.hp1 HG01891.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02976.hp1 HG03209.hp2 NA19030.hp2	a0003 a0004 a0009 others(2): Show a0003 a0004 a0009 a0010 a0015	a0003c0007 a0004c0004 a0009c0012 others(2): Show a0003c0007 a0004c0004 a0009c0012 a0010c0029 a0015c0025	a0003c0007t0001 a0004c0004t0001 a0004c0004t0002 others(3): Show a0003c0007t0001 a0004c0004t0001 a0004c0004t0002 a0009c0012t0001 a0010c0029t0001 a0015c0025t0001	a0003c0007t0001g0104 a0004c0004t0001g0047 a0004c0004t0001g0088 others(6): Show a0003c0007t0001g0104 a0004c0004t0001g0047 a0004c0004t0001g0088 a0004c0004t0001g0149 a0004c0004t0002g0074 a0009c0012t0001g0091 a0009c0012t0001g0146 a0010c0029t0001g0152 a0015c0025t0001g0034	9	188	0.0479	-204	c.211 others(17): Show c.211-4299_211-4096del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SYTL3_chr6_158645054_158769871	158704961	GGGCAGGG others(197): Show GGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCC GGGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACC CGGGGCAGGGTGACAGTGAGGGCTATAAGGCCACATAGGGCAGGAGGGAC CTGGGGACAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGG ACCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01975.hp1 HG00280.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0234 a0001c0001t0001g0235	2	290	0.0069	-204	c.395 others(17): Show c.395-2266_395-2063del	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAF3_chr10_7813505_8021631	7954679	CCTAGTTA others(197): Show CCTAGTTAACACAGAGCTCTCCCTAGTGAGATTCAGAGTGCACTCCATAG GTGAATGAGTGGATTAGTCCTAGTTAACACAGAGCTCTCCCTAGTGAGAT TCAGAGTGCCCTCCATAGGCGAATGAGTGAATTAGTTCTAGTTAACACAG AGCTCTCCATAGTGAGATTCAGAGTGCACTCCATAGGTGAATGAGTGAAT TAGTT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0007 a0003c0006t0007	a0003c0006t0007g0187 a0003c0006t0007g0187	1	342	0.0029	-204	c.410 others(17): Show c.410-9219_410-9016del	TAF3	ENSG00000165632.9	transcript	ENST00000344293.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
TAFA5_chr22_48484553_48756932	48667777	TAATCCCC others(197): Show TAATCCCCCAGCACTCAGGACCGCGTCTTCACCGGGAGCGTTAATCCCCC AGCACTCAGGGCCGCGTCTTCACTGGGAGCTGTAATCCCCCAGCACTCAG GACCGCGTCTTCACTGGGAGCTGTAGTCCCCCAGCACTCAGGACCGCGTC TTCACTGGGAGCTGTAATCCCCCAGCACTCAGGACCGCGTCTTCACTGGG AACTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00673.hp2 others(54): Show HG00140.hp1 HG00323.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp2 HG01952.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02257.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02886.hp2 HG02922.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03579.hp2 HG03654.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG06807.hp2 NA18522.hp1 NA18944.hp2 NA18952.hp1 NA18972.hp1 NA18980.hp2 NA18994.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19030.hp2 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0028 a0001c0001t0030 a0001c0001t0034 a0001c0004t0003	a0001c0001t0001g0012 a0001c0001t0001g0069 a0001c0001t0001g0073 others(54): Show a0001c0001t0001g0012 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0127 a0001c0001t0001g0142 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0197 a0001c0001t0001g0219 a0001c0001t0001g0236 a0001c0001t0001g0256 a0001c0001t0002g0003 a0001c0001t0002g0030 a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0111 a0001c0001t0002g0159 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0225 a0001c0001t0002g0238 a0001c0001t0002g0255 a0001c0001t0003g0022 a0001c0001t0003g0058 a0001c0001t0003g0063 a0001c0001t0003g0074 a0001c0001t0003g0078 a0001c0001t0003g0089 a0001c0001t0003g0110 a0001c0001t0003g0115 a0001c0001t0003g0122 a0001c0001t0003g0130 a0001c0001t0003g0138 a0001c0001t0003g0149 a0001c0001t0003g0230 a0001c0001t0004g0189 a0001c0001t0005g0081 a0001c0001t0005g0143 a0001c0001t0006g0095 a0001c0001t0006g0135 a0001c0001t0006g0210 a0001c0001t0007g0023 a0001c0001t0007g0050 a0001c0001t0007g0148 a0001c0001t0008g0211 a0001c0001t0010g0226 a0001c0001t0011g0070 a0001c0001t0012g0192 a0001c0001t0017g0029 a0001c0001t0021g0231 a0001c0001t0023g0116 a0001c0001t0028g0018 a0001c0001t0030g0169 a0001c0001t0034g0044 a0001c0004t0003g0228	57	254	0.2244	-204	c.262 others(19): Show c.262+21032_262+21235del	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3			chr22	TogoVar
TBCD_chr17_82747065_82950914	82905467	GTCCCACA others(197): Show GTCCCACAGGTCGTCCGTGTGTGCACGCCGTCGCCTGCCCTCCCGGCCCT GTGTGGGTGCGTGTGGGCTTCCCACAGGTCGTCCGTGTGTGCACGCCGTC ACCTGCCCTCCCGGCCCTGTGTGGGTGCGTGTGGGCTTCCCACAGGTCGT CCGTGTGTGCACGCCGTCGCCTGCCCTCCCGGCCCTGTGTGGGTGCGTGT GGGCT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0196 a0003c0004t0004g0196	1	182	0.0055	-204	c.180 others(17): Show c.1805-369_1805-166del	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	19/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TECPR2_chr14_102357941_102507477	102379883	TCCTAGTC others(197): Show TCCTAGTCACACTGCTGAAGATCACCATCTTAAAATCCATGCACAGAGGC ACCCTAGTCACACTGCTGAAGATCACCATCTTAAAATCCATGCACAGAGG CGTCCTAGTCACACTGCTGAAGATCACCATCTTAAAATCCGTGCACAGAG GCGTCCTAGTCACACTGCTGAAGATCACAGTCTTAAAATCCATGCACAGA GGCAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp2 HG02717.hp2 others(15): Show HG00639.hp1 HG01081.hp2 HG02717.hp2 HG03834.hp1 HG03942.hp1 HG04228.hp2 NA18947.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18969.hp2 NA18978.hp1 NA18995.hp2 NA18998.hp2 NA19004.hp2 NA19043.hp2 NA19060.hp2 NA19091.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0007 a0004c0004t0043 others(3): Show a0004c0004t0006 a0004c0004t0007 a0004c0004t0043 a0004c0004t0044 a0004c0004t0045 a0004c0004t0047	a0004c0004t0006g0143 a0004c0004t0006g0144 a0004c0004t0006g0145 others(15): Show a0004c0004t0006g0143 a0004c0004t0006g0144 a0004c0004t0006g0145 a0004c0004t0006g0146 a0004c0004t0006g0155 a0004c0004t0006g0156 a0004c0004t0006g0157 a0004c0004t0006g0158 a0004c0004t0007g0147 a0004c0004t0007g0148 a0004c0004t0007g0149 a0004c0004t0007g0150 a0004c0004t0007g0151 a0004c0004t0007g0154 a0004c0004t0043g0160 a0004c0004t0044g0159 a0004c0004t0045g0153 a0004c0004t0047g0152	18	330	0.0545	-204	c.219 others(17): Show c.219+2993_219+3196del	TECPR2	ENSG00000196663.16	transcript	ENST00000359520.12	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM132D_chr12_129066726_129909025	129857437	GGAGTCCG others(197): Show GGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAAC GGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTT GTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGG GGAGCGGGATGGGTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTG TAACA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01074.hp1 HG02040.hp1 others(9): Show HG00408.hp2 HG01074.hp1 HG02040.hp1 HG02040.hp2 HG02083.hp2 HG02647.hp1 HG02809.hp1 HG03669.hp1 HG03831.hp1 NA18906.hp1 NA19091.hp1 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0005c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0004t0001 a0001c0007t0019 a0005c0012t0003	a0001c0001t0001g0060 a0001c0001t0001g0083 a0001c0001t0003g0085 others(9): Show a0001c0001t0001g0060 a0001c0001t0001g0083 a0001c0001t0003g0085 a0001c0001t0005g0031 a0001c0001t0005g0038 a0001c0001t0005g0051 a0001c0001t0006g0068 a0001c0001t0010g0044 a0001c0001t0015g0005 a0001c0004t0001g0030 a0001c0007t0019g0039 a0005c0012t0003g0041	12	91	0.1319	-204	c.79+ others(17): Show c.79+45620_79+45823del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129857537	GTAACGGA others(197): Show GTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGG GGAGCGGGATGGGTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTG TAACAGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGG GAACGGGATGGCTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGC CCTTA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0011 a0001c0002t0004g0011	1	92	0.0109	-204	c.79+ others(17): Show c.79+45520_79+45723del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129857549	AGGGGAAC others(197): Show AGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAGCGGGATGG GTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCA GGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGC TGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGA GTCCG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02145.hp1 HG02698.hp1 others(2): Show HG00741.hp2 HG02145.hp1 HG02698.hp1 HG02809.hp2 HG03225.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0008 a0001c0001t0010 a0001c0002t0004 others(2): Show a0001c0001t0008 a0001c0001t0010 a0001c0002t0004 a0002c0003t0001 a0003c0005t0001	a0001c0001t0008g0092 a0001c0001t0010g0028 a0001c0002t0004g0077 others(2): Show a0001c0001t0008g0092 a0001c0001t0010g0028 a0001c0002t0004g0077 a0002c0003t0001g0062 a0003c0005t0001g0035	5	72	0.0694	-204	c.79+ others(17): Show c.79+45508_79+45711del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129858033	GGGGGAAC others(197): Show GGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGG GTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAGCGG GATGGGTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGA GTCCA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03239.hp1 HG03834.hp1 HG02698.hp2 HG03239.hp1 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0011 a0002c0003t0001 a0001c0001t0001 a0001c0002t0011 a0002c0003t0001	a0001c0001t0001g0024 a0001c0002t0011g0001 a0002c0003t0001g0049 a0001c0001t0001g0024 a0001c0002t0011g0001 a0002c0003t0001g0049	3	90	0.0333	-204	c.79+ others(17): Show c.79+45024_79+45227del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TNK2_chr3_195858364_195913551	195880873	CGCCCCCC others(197): Show CGCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAAC ACCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCGTCTATCCCTGTAAC ACCCGCCCCCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCCCTCTA ACACCACCCGCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGTCCCTC TAACA	C C	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18999.hp1 NA19056.hp2 others(1): Show NA18959.hp1 NA18999.hp1 NA19056.hp2 NA19068.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0159 others(1): Show a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0159 a0001c0003t0001g0169	4	369	0.0108	-204	c.887 others(16): Show c.887+974_887+1177del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195881251	GAGAGGAC others(197): Show GAGAGGACACAGTGTCTATCCCTCTAACACCACCCGCCAGCAATGCCCCT TGAAGAGGACACAGGATCTGTCCCTCTAACACCCCCCCAGCAGTGCCCCT TGGAGAGGACACAGCATCTATCCCTGTAACACCCCCCCAGCAGTGCCCCT TGGAGAGGACACAGCATCTATCCCTGTAACACCCGCCCCCAGCGATGCCC CTTGG	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02056.hp2 HG02135.hp1 others(5): Show HG00423.hp2 HG02056.hp2 HG02135.hp1 HG02523.hp2 NA18973.hp1 NA19081.hp2 NA19090.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0018 a0001c0003 a0002c0018	a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0002c0018t0001	a0001c0003t0001g0124 a0001c0003t0001g0150 a0001c0003t0001g0193 others(5): Show a0001c0003t0001g0124 a0001c0003t0001g0150 a0001c0003t0001g0193 a0001c0003t0002g0204 a0001c0003t0005g0151 a0001c0003t0005g0194 a0001c0003t0005g0256 a0002c0018t0001g0139	8	365	0.0219	-204	c.887 others(15): Show c.887+596_887+799del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TRAF3IP3_chr1_209751053_209787310	209780019	CAGGGTGG others(197): Show CAGGGTGGCTAAAAAACCATCTTTAACCATATGAAGATAAATTTTAGGAT ATGACTGCCATCTTCACAACTTTCAAATGAGGACATCAGGGAAAAGGGAT TGTATTAAAGCATTTACCAAACTTATTTGACAAACTAGGAAGAATGTGAC ATACAACCAATGAAATTCAATTAAGAAGTATTCACTAAAACTATCTAGCA CTAGA	C C	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0123 a0001c0004t0003g0123	1	442	0.0023	-204	c.131 others(17): Show c.1313-450_1313-247del	TRAF3IP3	ENSG00000009790.15	transcript	ENST00000367025.8	protein_coding	14/16			chr1	TogoVar
TXNL1_chr18_56592209_56643592	56600464	TGTGGGGC others(197): Show TGTGGGGCAGGTTTCAACTCTAATTGTTACGTGGCTGCCTCCAACAGAAT ATTGAGACTGGGGAACAACGTGGGGCAGGTTTCAACTCTAATTGTTATGT GGCTGCCTCCAACAGTATATTGAGACTGGGGAACAACGTGGGGCAGGTTT CAACTCTAATTGTTACGTGGCTGCCTCCAACAGTATATTGAGACTGGGGA ACAAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0055 a0001c0001t0041g0055	1	333	0.0030	-204	c.23 others(11): Show c.2359_*2562del	TXNL1	ENSG00000091164.13	transcript	ENST00000217515.11	protein_coding	8/8	2359		chr18	TogoVar
TYMS_chr18_652653_678578	666897	TGATGGAG others(197): Show TGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTG ATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTGAT GGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGTGATGG TGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAG ATGGA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp1 HG03704.hp1 HG01070.hp2 HG01081.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0219 a0001c0001t0002g0009 a0001c0001t0002g0219	3	447	0.0067	-204	c.455 others(17): Show c.455-2151_455-1948del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UNC5A_chr5_176805559_176885898	176870920	ACCCCACA others(197): Show ACCCCACACCACAGCTTCCCATCTGCCCACACTCGCCCAACACCACAGCT TCCCATCTGCCCACGCTCGCCCCACACCACAGCTTCCCATCTGCCCACAC TCGCCCCACACCACAGCTTCCCATCTGCCCACACTCGCCCCACACCACAG CTTCCCATCTGCCCACACTCGCCCCACACCACAGCTTCCCATCTGCCCAC ACTCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00735.hp1 others(16): Show HG00099.hp1 HG00639.hp2 HG00735.hp1 HG01074.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01978.hp2 HG02145.hp1 HG02572.hp1 HG02683.hp2 HG02698.hp1 HG02818.hp2 HG02896.hp1 HG02922.hp2 HG02976.hp2 HG03516.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0175 a0001c0001t0002g0040 a0001c0001t0002g0090 others(16): Show a0001c0001t0001g0175 a0001c0001t0002g0040 a0001c0001t0002g0090 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0118 a0001c0001t0002g0171 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0215 a0001c0001t0002g0217	19	266	0.0714	-204	c.886 others(15): Show c.886+416_886+619del	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
USP53_chr4_119207713_119300518	119248243	AGAAATAC others(197): Show AGAAATACAGGTTGGGTATCTCTTGTCTGAAATGCTCAGGACCAGCAGTG TCCTCTGAGGGTGGGACCTGGGAACCCTATATGTTTAATTCTTGTGTCTG CTAACATTTGATTTAGAGGCTGGTGCAAACATTTCTACACTTGATGATAC AAATAATTAATTTTTGTATGAAATTTTAGAGCAAAAGACTTCTGTATTAT TTTCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp2 HG01257.hp2 others(17): Show HG00280.hp2 HG01106.hp2 HG01257.hp2 HG01516.hp2 HG01884.hp1 HG02083.hp1 HG02602.hp1 NA18612.hp1 NA18939.hp2 NA18950.hp2 NA18963.hp2 NA18973.hp1 NA18980.hp2 NA18992.hp1 NA18993.hp1 NA19006.hp1 NA19057.hp1 NA19081.hp2 NA19088.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0002 a0001c0003t0003 a0001c0004t0005 others(3): Show a0001c0001t0002 a0001c0003t0003 a0001c0004t0005 a0001c0004t0007 a0001c0004t0033 a0001c0006t0005	a0001c0001t0002g0049 a0001c0003t0003g0293 a0001c0004t0005g0320 others(16): Show a0001c0001t0002g0049 a0001c0003t0003g0293 a0001c0004t0005g0320 a0001c0004t0005g0321 a0001c0004t0005g0322 a0001c0004t0005g0323 a0001c0004t0005g0324 a0001c0004t0005g0326 a0001c0004t0005g0327 a0001c0004t0005g0328 a0001c0004t0005g0329 a0001c0004t0005g0330 a0001c0004t0005g0331 a0001c0004t0007g0164 a0001c0004t0033g0325 a0001c0006t0005g0019 a0001c0006t0005g0211 a0001c0006t0005g0212 a0001c0006t0005g0213	20	378	0.0529	-204	c.238 others(15): Show c.238-426_238-223del	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
VCX3B_chrX_8459830_8471510	8466580	AGGGAGGG others(197): Show AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0030 a0030	a0030c0044 a0030c0044	a0030c0044t0017 a0030c0044t0017	a0030c0044t0017g0033 a0030c0044t0017g0033	1	217	0.0046	-204	c.19 others(9): Show c.198_*401del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		71		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467133	AGGGAGGA others(197): Show AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGT GTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02738.hp1 HG02886.hp1 others(1): Show HG01255.hp1 HG02738.hp1 HG02886.hp1 NA18967.hp1	a0001 a0024 a0033 a0001 a0024 a0033	a0001c0001 a0024c0045 a0033c0030 a0001c0001 a0024c0045 a0033c0030	a0001c0001t0004 a0001c0001t0010 a0024c0045t0004 others(1): Show a0001c0001t0004 a0001c0001t0010 a0024c0045t0004 a0033c0030t0012	a0001c0001t0004g0002 a0001c0001t0010g0034 a0024c0045t0004g0003 others(1): Show a0001c0001t0004g0002 a0001c0001t0010g0034 a0024c0045t0004g0003 a0033c0030t0012g0002	4	268	0.0149	-204	c.75 others(9): Show c.751_*954del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		624		chrX	TogoVar
WRAP73_chr1_3625770_3655103	3643577	AATGGGGT others(197): Show AATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCCCGG ACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCCCG GACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCCC GGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCC CGGAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01109.hp1 others(5): Show HG00735.hp1 HG01069.hp1 HG01109.hp1 HG01192.hp1 HG02735.hp2 HG03710.hp2 NA18522.hp1 NA20129.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0012 a0001c0001 a0009c0012	a0001c0001t0002 a0009c0012t0001 a0001c0001t0002 a0009c0012t0001	a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0143 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0143 a0001c0001t0002g0171 a0009c0012t0001g0074	8	185	0.0432	-204	c.339 others(17): Show c.339+2885_339+3088del	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
WRAP73_chr1_3625770_3655103	3644217	CAGCGGCC others(197): Show CAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGAC CCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGA CCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGG ATCCAGTGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCAGAAGGG GACCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00738.hp1 others(37): Show HG00280.hp2 HG00639.hp1 HG00738.hp1 HG01070.hp2 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG01981.hp2 HG01993.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0004c0007 a0004c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0006 a0001c0013t0001 a0004c0007t0001 a0004c0008t0001	a0001c0001t0001g0025 a0001c0001t0001g0069 a0001c0001t0001g0070 others(27): Show a0001c0001t0001g0025 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0002t0001g0068 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0118 a0001c0003t0001g0124 a0001c0003t0006g0119 a0001c0013t0001g0060 a0004c0007t0001g0027 a0004c0007t0001g0117 a0004c0008t0001g0026	40	380	0.1053	-204	c.339 others(17): Show c.339+2245_339+2448del	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
XKR9_chr8_70664339_70740942	70711585	TAAACACA others(197): Show TAAACACAAAGAGGGGAACAATAGACATCAGGGCTTACTTGAGGATGCAG GGTGGGAAGAGGGTGAGGATCAAAAAACTATGTATTGGGTACTAGGCTCA CTACCTGGGTGAGGAAATTATTTGTATACCTAACCCCAGTGATACACAAT TTACCCATGTAAAAAACCTGCACACGTACCCCTTGAAACTTAAAAGTTGG AAGAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00733.hp2 others(88): Show HG00140.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG01074.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02080.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03710.hp1 HG03942.hp1 HG04184.hp2 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18943.hp2 NA18949.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19054.hp2 NA19058.hp2 NA19066.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19086.hp1 NA19089.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0004 a0004c0008 a0001c0002 a0002c0004 a0004c0008	a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 others(6): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0002c0004t0002 a0002c0004t0009 a0004c0008t0002	a0001c0002t0002g0004 a0001c0002t0002g0010 a0001c0002t0002g0011 others(77): Show a0001c0002t0002g0004 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0077 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0005g0023 a0001c0002t0005g0046 a0001c0002t0005g0209 a0001c0002t0005g0210 a0001c0002t0005g0211 a0001c0002t0005g0212 a0001c0002t0005g0213 a0001c0002t0005g0214 a0001c0002t0008g0215 a0001c0002t0008g0249 a0001c0002t0008g0250 a0001c0002t0008g0251 a0001c0002t0022g0239 a0001c0002t0023g0228 a0001c0002t0024g0273 a0002c0004t0002g0238 a0002c0004t0009g0216 a0002c0004t0009g0217 a0002c0004t0009g0218 a0002c0004t0009g0219 a0004c0008t0002g0010	91	312	0.2917	-204	c.493 others(17): Show c.493+4640_493+4843del	XKR9	ENSG00000221947.8	transcript	ENST00000408926.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
YWHAG_chr7_76321799_76363991	76343161	TGTAAAAG others(197): Show TGTAAAAGCTGTTGTAAACTATGGTGTACTGCAGCCGTTTTTAAAAATCA GCTTTATTAAGGTATCTACTGGGTGGAGGCCAGGGATGCTGCTGAACACC CTACAATGCACAGGATGGCCTCCACATTAGCAAAGGATCATCTGCTCCGA ATGCACATATTGTGGAAGCAGAAGAACCCTGCTGTGAGTTCTCGATACCC CAGCC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01496.hp1 HG02148.hp2 others(1): Show HG01433.hp1 HG01496.hp1 HG02148.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0016 a0001c0001t0006g0281 a0001c0001t0002g0016 a0001c0001t0006g0281	4	382	0.0105	-204	c.88- others(17): Show c.88-13132_88-12929del	YWHAG	ENSG00000170027.7	transcript	ENST00000307630.5	protein_coding	1/1			chr7	TogoVar
ZFP41_chr8_143241939_143267705	143255864	GCCCCGCG others(197): Show GCCCCGCGTGCTGGTGTTAGTGAGATCAGGGCTCGCCCCGCGTGCTGGTG TTAGTGAGATCACGGCTCGCCCCGCGTGCTGGTGTTAGTGAGATCAGGGC TCTCCCCGCGTGCTAGAGTTAGTGAGATCAGGGCTCGCCCCGCGTGCTGG TGTTAGTGAGATCAGGGCTCACCCCGCGTGCTGGTGTTCTTGAGATCAGG GCTCA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0076 a0001c0001t0006g0076	1	314	0.0032	-204	c.90 others(19): Show c.901-3809_*901-3606del	ZFP41	ENSG00000181638.20	transcript	ENST00000330701.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar

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