Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
NFATC1_chr18_79390930_79534323	79525345	CGTTACCC others(125): Show CGTTACCCCTCAGGCCTCCCCACGTCCCACCGTCGTTACCCCTCAGTCCT CCCCACGTCCCACCGTCGTTACCTCTCAGTCCTCCCCACGTCCCACCGTC GTTACCCCTCAGTCCTCCCCACGTCCCACCGTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01071.hp1 others(17): Show HG01070.hp1 HG01070.hp2 HG01071.hp1 HG02056.hp1 HG02293.hp1 HG02451.hp2 HG02572.hp1 HG02647.hp1 HG02886.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG04184.hp1 NA18980.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0008 others(8): Show a0001c0001 a0001c0005 a0001c0008 a0001c0013 a0001c0015 a0001c0035 a0001c0048 a0002c0002 a0002c0003 a0002c0011 a0002c0012	a0001c0001t0003 a0001c0005t0005 a0001c0005t0035 others(13): Show a0001c0001t0003 a0001c0005t0005 a0001c0005t0035 a0001c0008t0002 a0001c0008t0005 a0001c0013t0005 a0001c0013t0007 a0001c0013t0056 a0001c0015t0010 a0001c0035t0054 a0001c0048t0005 a0002c0002t0001 a0002c0003t0001 a0002c0011t0002 a0002c0011t0026 a0002c0012t0027	a0001c0001t0003g0178 a0001c0005t0005g0083 a0001c0005t0005g0320 others(17): Show a0001c0001t0003g0178 a0001c0005t0005g0083 a0001c0005t0005g0320 a0001c0005t0035g0276 a0001c0008t0002g0060 a0001c0008t0005g0288 a0001c0013t0005g0114 a0001c0013t0005g0310 a0001c0013t0007g0112 a0001c0013t0056g0110 a0001c0015t0010g0271 a0001c0035t0054g0312 a0001c0048t0005g0283 a0002c0002t0001g0269 a0002c0003t0001g0213 a0002c0011t0002g0052 a0002c0011t0002g0053 a0002c0011t0026g0281 a0002c0012t0027g0038 a0002c0012t0027g0040	20	322	0.0621	-132	c.278 others(19): Show c.2783-2104_2783-1973del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NLRP8_chr19_55942832_55993629	55993475	CCCTCCCT others(125): Show CCCTCCCTCCCCCTCTCCCCCCTCCCCTCCTCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCTC CCCTCCTCTCCTCCCCCCTCCTCCTCTCAACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00558.hp1 others(39): Show HG00099.hp1 HG00099.hp2 HG00558.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG02027.hp2 HG02451.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03195.hp1 HG03490.hp2 HG03942.hp1 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18965.hp1 NA18967.hp1 NA18971.hp1 NA18998.hp2 NA19030.hp1 NA19074.hp1 NA19081.hp2 NA19240.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0010 a0015 a0018 a0030	a0001c0001 a0001c0002 a0001c0008 others(10): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0003c0004 a0004c0006 a0004c0024 a0006c0029 a0007c0009 a0010c0017 a0015c0022 a0018c0025 a0030c0052	a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 others(27): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0021 a0001c0001t0036 a0001c0001t0037 a0001c0001t0053 a0001c0002t0002 a0001c0002t0007 a0001c0002t0020 a0001c0002t0038 a0001c0008t0005 a0001c0008t0009 a0002c0003t0001 a0002c0003t0003 a0002c0003t0018 a0002c0003t0025 a0003c0004t0007 a0003c0004t0014 a0003c0004t0020 a0003c0004t0055 a0004c0006t0001 a0004c0024t0041 a0006c0029t0071 a0007c0009t0002 a0010c0017t0005 a0015c0022t0001 a0018c0025t0002 a0030c0052t0012	a0001c0001t0005g0007 a0001c0001t0005g0069 a0001c0001t0007g0060 others(38): Show a0001c0001t0005g0007 a0001c0001t0005g0069 a0001c0001t0007g0060 a0001c0001t0007g0263 a0001c0001t0007g0264 a0001c0001t0007g0291 a0001c0001t0009g0071 a0001c0001t0014g0065 a0001c0001t0014g0292 a0001c0001t0021g0054 a0001c0001t0036g0056 a0001c0001t0037g0064 a0001c0001t0053g0007 a0001c0002t0002g0141 a0001c0002t0007g0040 a0001c0002t0020g0001 a0001c0002t0038g0078 a0001c0008t0005g0258 a0001c0008t0005g0266 a0001c0008t0009g0267 a0002c0003t0001g0013 a0002c0003t0001g0151 a0002c0003t0003g0243 a0002c0003t0003g0290 a0002c0003t0018g0006 a0002c0003t0018g0013 a0002c0003t0025g0281 a0003c0004t0007g0208 a0003c0004t0014g0012 a0003c0004t0020g0231 a0003c0004t0055g0012 a0004c0006t0001g0010 a0004c0024t0041g0234 a0004c0024t0041g0235 a0006c0029t0071g0031 a0007c0009t0002g0315 a0010c0017t0005g0201 a0015c0022t0001g0134 a0018c0025t0002g0192 a0018c0025t0002g0193 a0030c0052t0012g0326	42	350	0.1200	-132	c.55 others(11): Show c.5563_*5694del	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4847		chr19	TogoVar
NOC4L_chr12_132139457_132157468	132148890	ACCTCGGT others(125): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCC	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18612.hp1 HG03239.hp2 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0088 a0002c0002t0004g0087 a0002c0002t0001g0088 a0002c0002t0004g0087	2	294	0.0068	-132	c.901 others(14): Show c.901+18_901+149del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149608	CGCCGCCT others(125): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACT CACACCACACCCCTAATCCCCTCGGTGAGTGCG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03834.hp1 NA20300.hp1 HG02145.hp2 HG03834.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0037 a0001c0001t0001g0143 a0002c0002t0001g0089 a0001c0001t0001g0037 a0001c0001t0001g0143 a0002c0002t0001g0089	3	294	0.0102	-132	c.901 others(15): Show c.901+766_901+897del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150541	CACCACAC others(125): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0096 a0005c0013t0001g0096	1	294	0.0034	-132	c.902 others(15): Show c.902-396_902-265del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150585	TACCACAC others(125): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	294	0.0034	-132	c.902 others(15): Show c.902-352_902-221del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NPAS1_chr19_47014837_47050775	47027514	CTCTGCCC others(125): Show CTCTGCCCCTGTTCTCCCTTCTCTCTGCCCCTGGTCTCCTGTCTGTCTGC CCCTGGTCTCCCTTCTCTCTGCCCCTGGTCTCCCGTCTCTCTGCCCCTGG TCTCCCGTCTCTCTGCCCCTGGTCTCCCGTCTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02257.hp1 HG00140.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0289 a0001c0002t0001g0301 a0001c0001t0001g0289 a0001c0002t0001g0301	2	418	0.0048	-132	c.359 others(17): Show c.359-4753_359-4622del	NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
NSF_chr17_46585669_46762464	46662073	GGTCAGGT others(125): Show GGTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGC GTGAGCCACCGTGCCTAGCCTTTTGTATTTTTAGTAGAGACGAGGTTTCA CCACGTTGCCCAGGCTGGTCTCGAACTCCTGAC	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 HG01071.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004	3	5	0.6000	-132	c.746 others(19): Show c.746-12202_746-12071del	NSF	ENSG00000073969.19	transcript	ENST00000398238.8	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTM_chr11_131365615_132341822	131789421	AAGAAGAA others(125): Show AAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAGGAAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	86	0.0116	-132	c.83- others(19): Show c.83-122141_83-122010del	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN5_chr19_48656407_48678017	48669373	CACCACCA others(125): Show CACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCATCA CCACCATCACCACCACCACCACCATCACCACCATGACCACCATCATCACC ACCATCACCACCATCACCATCACCACCACCACG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	412	0.0024	-132	c.631 others(15): Show c.631+851_631+982del	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
NXN_chr17_794310_984776	835726	AAAAAACA others(125): Show AAAAAACACCGGTGGGATTCGTCAGCCCCCACAGAGGCCGCAGGGGAAAA ACACCGGTGGGATTCGTCAGCCTCATAGAGGCCGCAGGGGAAAAACACCG GTGGGATTCGTCAGCCTCATAGAGGCCGCAGGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	242	0.0041	-132	c.361 others(17): Show c.361-9780_361-9649del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948843	CCTGCCTC others(125): Show CCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCTGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCC TCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01167.hp2 others(3): Show HG00642.hp2 HG01081.hp1 HG01167.hp2 HG01169.hp2 HG02055.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0008 a0001c0001t0001 a0001c0001t0003 a0001c0003t0008	a0001c0001t0001g0101 a0001c0001t0003g0020 a0001c0001t0003g0057 others(3): Show a0001c0001t0001g0101 a0001c0001t0003g0020 a0001c0001t0003g0057 a0001c0001t0003g0061 a0001c0001t0003g0070 a0001c0003t0008g0179	6	242	0.0248	-132	c.360 others(19): Show c.360+30344_360+30475del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PARD3B_chr2_204540475_205625162	204998353	TATATATG others(125): Show TATATATGTGTGTGTGTGTGTGTATATATGTGTGTGTATATATGTATATA TGTGTATATATATGTATATATGTGTATATATATGTGTGTGTATATATATG TGTATATTATATATGTATATATATGTGTATATA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	54	0.0185	-132	c.394 others(19): Show c.394+33039_394+33170del	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PAX8_chr2_113210997_113283921	113236274	CGGAGGCG others(125): Show CGGAGGCGCGACCCCTCGGCCCACCTTGAGGCCCGGCCTAGGACTGGAGG CGCGACCCCTCGGCCCACCTTGAGGCCCGGCCTAGGACCGGAGGCGCGAC CCCTGGGCCCACCTTGAGGCCCGGCCTAGGACT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0028 a0001c0001t0018g0028	1	300	0.0033	-132	c.898 others(15): Show c.898+195_898+326del	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	8/11			chr2	TogoVar
PCBP3_chr21_45638725_45947450	45898775	GCCCCTCT others(125): Show GCCCCTCTGCATGCCGTCCTCACGGCCTCCCTCTCTCTCCACGGGCCCCT CTGCACGCCGTCCTCACGGCCTCCCTCTCTCTCCACGGGCCCCTCTGCAC GCCGTCCTCACAGCCTTCCTCTTTTTCCACAGA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18943.hp2 HG03942.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0066 a0001c0001t0003g0039 a0001c0001t0002g0066 a0001c0001t0003g0039	2	292	0.0069	-132	c.166 others(15): Show c.166-813_166-682del	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924101	CGGGAACA others(125): Show CGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCAC GAGGAGATGTGAACACTGGGAACAGTCGCGTGGGTAGAAACAGCACACGT AAGGTCGGGTGTGCACGAGGAGATGTGAACACT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	292	0.0034	-132	c.718 others(17): Show c.718-5804_718-5673del	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK6_chr15_101298933_101494707	101334169	CGACACAG others(125): Show CGACACAGGAAGTTGTTCTCACCGCTGCAGCAGTGACACAGGAAGTTGTT CTCACCGCTGCAGCAGTGACACAGGAAGTTGTTCTCACCGCTGCAGCAGT GACACAGGAAGTTGTTCTCACCGCTGCAGCAGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01358.hp2 HG01884.hp2 others(12): Show HG01243.hp1 HG01358.hp2 HG01884.hp2 HG02055.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp2 HG02723.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03225.hp1 HG03486.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0019 a0002c0017 a0002c0018 a0002c0032	a0001c0002t0003 a0001c0003t0002 a0001c0004t0003 others(7): Show a0001c0002t0003 a0001c0003t0002 a0001c0004t0003 a0001c0010t0001 a0001c0010t0003 a0001c0019t0003 a0002c0017t0001 a0002c0017t0003 a0002c0018t0001 a0002c0032t0003	a0001c0002t0003g0243 a0001c0002t0003g0266 a0001c0002t0003g0272 others(12): Show a0001c0002t0003g0243 a0001c0002t0003g0266 a0001c0002t0003g0272 a0001c0002t0003g0293 a0001c0003t0002g0047 a0001c0004t0003g0038 a0001c0004t0003g0083 a0001c0010t0001g0297 a0001c0010t0003g0291 a0001c0019t0003g0303 a0002c0017t0001g0030 a0002c0017t0003g0021 a0002c0017t0003g0024 a0002c0018t0001g0025 a0002c0032t0003g0009	15	336	0.0446	-132	c.185 others(19): Show c.1859-2270_1859-2139del	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	13/21			chr15	TogoVar
PHYHD1_chr9_128915982_128947038	128932635	GGGATTAC others(125): Show GGGATTACAGGTGTGAGCCACTGCACCCAGCAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACTATGTTTGCCAGGTTGGTCTTGAACTCCTGATCT CGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCT	G G	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0233 a0001c0002t0001g0233	1	404	0.0025	-132	c.193 others(17): Show c.193-1144_193-1013del	PHYHD1	ENSG00000175287.19	transcript	ENST00000372592.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLEKHG1_chr6_150594885_150848665	150777437	CACATGTG others(125): Show CACATGTGCGGTTGCACATCAGCCACACTGATGCAATCCTGGTGCACATG TGCAGTTGCACATTACTCACACTGATGCAATCCTGGTGCACATGTGCGGT TGCACATTACTCACACTGATGCAATCCTGGTGT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp2 HG01069.hp1 others(27): Show HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01167.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01884.hp1 HG01975.hp2 HG02083.hp1 HG02145.hp1 HG02523.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02970.hp1 HG03540.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp2 NA18942.hp1 NA18971.hp2 NA18983.hp2 NA18998.hp2 NA19001.hp2 NA19004.hp1 NA19005.hp2 NA19066.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0008	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0016 a0001c0018 a0001c0019 a0001c0059 a0002c0010 a0004c0015 a0006c0024 a0008c0031	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0004 a0001c0007t0003 a0001c0016t0005 a0001c0016t0006 a0001c0018t0001 a0001c0019t0004 a0001c0059t0003 a0002c0010t0001 a0004c0015t0007 a0006c0024t0009 a0008c0031t0002	a0001c0001t0001g0243 a0001c0001t0001g0266 a0001c0001t0002g0171 others(27): Show a0001c0001t0001g0243 a0001c0001t0001g0266 a0001c0001t0002g0171 a0001c0003t0001g0043 a0001c0003t0001g0058 a0001c0003t0001g0176 a0001c0003t0001g0240 a0001c0003t0001g0241 a0001c0003t0001g0255 a0001c0003t0001g0258 a0001c0003t0002g0160 a0001c0004t0001g0084 a0001c0004t0001g0192 a0001c0004t0001g0196 a0001c0004t0004g0248 a0001c0007t0003g0013 a0001c0016t0005g0214 a0001c0016t0006g0072 a0001c0018t0001g0140 a0001c0019t0004g0065 a0001c0019t0004g0123 a0001c0059t0003g0105 a0002c0010t0001g0141 a0002c0010t0001g0164 a0002c0010t0001g0191 a0002c0010t0001g0225 a0004c0015t0007g0041 a0006c0024t0009g0147 a0006c0024t0009g0158 a0008c0031t0002g0267	30	272	0.1103	-132	c.512 others(17): Show c.512+8751_513-8770del	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLXDC2_chr10_19811432_20294856	20126483	AACACACA others(125): Show AACACACACGTTATATATGTATATATAACACACACGTTATATATGTATAT ATAACACACACGTTATATATGTATATATAACACACACGTTATATATGTAT ATATAACACACACGTTATATATGTATATATAAC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18522.hp1 NA19030.hp2 others(1): Show HG02486.hp1 NA18522.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0084 a0001c0001t0085 others(1): Show a0001c0001t0071 a0001c0001t0084 a0001c0001t0085 a0001c0001t0111	a0001c0001t0071g0074 a0001c0001t0084g0141 a0001c0001t0085g0103 others(1): Show a0001c0001t0071g0074 a0001c0001t0084g0141 a0001c0001t0085g0103 a0001c0001t0111g0049	4	180	0.0222	-132	c.542 others(19): Show c.542-16805_542-16674del	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2C_chr4_6315581_6477614	6336717	CTCCCTCC others(125): Show CTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCCCT CCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCATCCCTCCCTCC CTCCCTCCTTCCCTCCCTCCCTCCCTGCTTCCA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02145.hp1 others(5): Show HG01243.hp2 HG02109.hp1 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02895.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0008 a0001c0002t0013 others(3): Show a0001c0001t0002 a0001c0002t0008 a0001c0002t0013 a0001c0002t0023 a0001c0002t0031 a0001c0004t0002	a0001c0001t0002g0181 a0001c0002t0008g0199 a0001c0002t0013g0178 others(5): Show a0001c0001t0002g0181 a0001c0002t0008g0199 a0001c0002t0013g0178 a0001c0002t0013g0215 a0001c0002t0023g0039 a0001c0002t0023g0067 a0001c0002t0031g0183 a0001c0004t0002g0126	8	298	0.0269	-132	c.791 others(17): Show c.791-3118_791-2987del	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PRDM15_chr21_41793225_41884344	41806045	TCACCACC others(125): Show TCACCACCACCACCATCACCATCACCACCACCATCACCACCACCACCATC ACCACCACCATCACCACCACCACCACCACCATCACCACCACCATCACCAC CACCACCACCATCACCATCACCACCACCATCAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0296 a0001c0009t0008g0296	1	406	0.0025	-132	c.265 others(19): Show c.2653-1563_2653-1432del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PTDSS1_chr8_96256902_96341995	96310282	AGCCTCCC others(125): Show AGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCACACCCTACTAA GTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGT TTCTAACTCTGACCTCATGATCTGACCCCCTTG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	262	0.0038	-132	c.107 others(17): Show c.1073+670_1073+801del	PTDSS1	ENSG00000156471.13	transcript	ENST00000517309.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTMA_chr2_231703525_231718551	231715760	CCTCACTG others(125): Show CCTCACTGGACTCCATGCACCCTCACTGGACTCCATGCACCCTCACTCAC TGGACTCCATACTGCCTCAGCAGACTCCACACTCTCTCACTGGACTCCCT GCTCCCTCACTCACTGGACTCCACGCACCCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG03098.hp1 NA18906.hp2 HG02809.hp2 HG03098.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	3	392	0.0077	-132	c.29 others(11): Show c.2910_*3041del	PTMA	ENSG00000187514.17	transcript	ENST00000409115.8	protein_coding		2210		chr2	TogoVar
PTPRG_chr3_61556571_62302609	61732503	GGAGGCGG others(125): Show GGAGGCGGAGCTTGCACTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGCGCATGATGGCGAGCACCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCATGAACCCGA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02970.hp2 HG02896.hp2 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0002c0003t0001 a0001c0001t0007 a0002c0003t0001	a0001c0001t0007g0084 a0002c0003t0001g0067 a0001c0001t0007g0084 a0002c0003t0001g0067	2	94	0.0213	-132	c.86- others(17): Show c.86-16359_86-16228del	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRT_chr20_42067756_43194906	42508940	AATATAAT others(125): Show AATATAATTTATATTTAATTTATAGATATAAATTATATAATTTATATTTA ATTTATAGATATAAATTATATAATTTATATTTAATTTATAGATATAAATT ATATAATTTATATTTAATTTATAGATATAAATC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02109.hp1 HG02155.hp1 others(3): Show HG00741.hp2 HG02109.hp1 HG02155.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0008c0028	a0001c0002t0022 a0001c0003t0003 a0001c0003t0020 others(2): Show a0001c0002t0022 a0001c0003t0003 a0001c0003t0020 a0002c0001t0011 a0008c0028t0027	a0001c0002t0022g0055 a0001c0003t0003g0033 a0001c0003t0020g0047 others(3): Show a0001c0002t0022g0055 a0001c0003t0003g0033 a0001c0003t0020g0047 a0002c0001t0011g0019 a0002c0001t0011g0020 a0008c0028t0027g0042	6	62	0.0968	-132	c.115 others(21): Show c.1154-36510_1154-36379del	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
RAD17_chr5_69364818_69419801	69381355	CCTGTAGT others(125): Show CCTGTAGTCCCAGCTACTCGGGTGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATTATGCCACTGCACTCCAGCC TGGGTGAAAGAGCAAGACTCGTCTCAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0333 a0001c0001t0002g0333	1	359	0.0028	-132	c.352 others(15): Show c.352-545_352-414del	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18			chr5	TogoVar
RBM33_chr7_155639661_155786480	155673499	TATATACA others(125): Show TATATACATACACACGTGTATATATATACACACATATATACATACACACG TGTATATATATACACACATATACATACACACGTGTATATATATATACACA CATATACATACACACGTGTATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03209.hp2 HG02976.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0081 a0001c0002t0082 a0001c0002t0081 a0001c0002t0082	a0001c0002t0081g0089 a0001c0002t0082g0088 a0001c0002t0081g0089 a0001c0002t0082g0088	2	306	0.0065	-132	c.171 others(15): Show c.171+610_171+741del	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RIMBP2_chr12_130391133_130721299	130646125	GCCTCTCC others(125): Show GCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTGC CTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCT CACCACCTGCCTCTCCACCTCCCTCACCACTTC	G G	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	180	0.0056	-132	c.-35 others(21): Show c.-351-17801_-351-17670del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646137	CCCTCACC others(125): Show CCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCC CTCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTGCCT CTCCACCTCCCTCACCACTTCCCTCTCCACCTG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01258.hp2 HG01192.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0151 a0001c0001t0002g0031 a0001c0001t0001g0151 a0001c0001t0002g0031	2	180	0.0111	-132	c.-35 others(21): Show c.-351-17813_-351-17682del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RNF115_chr1_145733868_145829095	145766887	AGGCAGAG others(125): Show AGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCTGACCCCCCCACCTCCCTCCCGGTCGGGGTGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0268 a0001c0001t0027g0268	1	272	0.0037	-132	c.428 others(17): Show c.428+4692_428+4823del	RNF115	ENSG00000265491.5	transcript	ENST00000582693.5	protein_coding	4/8			chr1	TogoVar
RNF115_chr1_145733868_145829095	145766932	GGGGGGCT others(125): Show GGGGGGCTGACCTGACCCCCCCACCTCCCTCCCGGTCGGGGTGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCAGGGCA	G G	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	272	0.0037	-132	c.428 others(17): Show c.428+4647_428+4778del	RNF115	ENSG00000265491.5	transcript	ENST00000582693.5	protein_coding	4/8			chr1	TogoVar
RNF213_chr17_80255852_80403794	80315376	TAATGGAG others(125): Show TAATGGAGGTGATGGTGGTGGTGGTGGTGGTACTGGAGGTGATGGTGGAG GTAATGGAGGTGATGGTGGTGGTGGTGGTGGTACTGGAGGTGATGGTGGA GGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00609.hp2 others(50): Show HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01243.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG02040.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03130.hp2 HG03486.hp2 HG03579.hp1 HG03831.hp1 NA18906.hp2 NA18944.hp1 NA18946.hp1 NA18952.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18986.hp1 NA19004.hp1 NA19005.hp2 NA19060.hp1 NA19065.hp2 NA19081.hp1 NA19082.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0012 a0014 a0018 a0020 a0025 a0030 a0032 a0037 a0038 a0046 a0048 a0056 a0057 a0065 a0068 a0070 a0073 a0085 a0100 a0103	a0001c0001 a0001c0004 a0001c0006 others(33): Show a0001c0001 a0001c0004 a0001c0006 a0001c0021 a0001c0029 a0001c0094 a0001c0124 a0002c0002 a0002c0039 a0003c0005 a0003c0030 a0004c0045 a0005c0105 a0006c0009 a0007c0008 a0008c0013 a0012c0012 a0014c0138 a0018c0019 a0020c0026 a0025c0088 a0030c0031 a0032c0142 a0037c0055 a0038c0137 a0046c0115 a0048c0136 a0056c0134 a0057c0120 a0065c0065 a0068c0113 a0070c0146 a0073c0147 a0085c0135 a0100c0068 a0103c0104	a0001c0001t0029 a0001c0004t0007 a0001c0004t0011 others(42): Show a0001c0001t0029 a0001c0004t0007 a0001c0004t0011 a0001c0004t0014 a0001c0006t0011 a0001c0021t0001 a0001c0021t0002 a0001c0029t0007 a0001c0094t0001 a0001c0124t0002 a0002c0002t0005 a0002c0002t0009 a0002c0039t0014 a0003c0005t0007 a0003c0005t0011 a0003c0005t0080 a0003c0030t0007 a0004c0045t0011 a0005c0105t0021 a0006c0009t0005 a0006c0009t0009 a0006c0009t0019 a0007c0008t0008 a0008c0013t0028 a0008c0013t0044 a0012c0012t0049 a0014c0138t0012 a0018c0019t0024 a0020c0026t0007 a0025c0088t0013 a0030c0031t0012 a0032c0142t0030 a0037c0055t0005 a0038c0137t0016 a0046c0115t0006 a0048c0136t0025 a0056c0134t0008 a0057c0120t0050 a0065c0065t0025 a0068c0113t0021 a0070c0146t0048 a0073c0147t0045 a0085c0135t0078 a0100c0068t0019 a0103c0104t0008	a0001c0001t0029g0079 a0001c0004t0007g0047 a0001c0004t0007g0268 others(50): Show a0001c0001t0029g0079 a0001c0004t0007g0047 a0001c0004t0007g0268 a0001c0004t0011g0048 a0001c0004t0014g0046 a0001c0006t0011g0051 a0001c0021t0001g0063 a0001c0021t0001g0080 a0001c0021t0002g0069 a0001c0029t0007g0039 a0001c0094t0001g0162 a0001c0124t0002g0068 a0002c0002t0005g0073 a0002c0002t0009g0042 a0002c0039t0014g0240 a0003c0005t0007g0058 a0003c0005t0011g0253 a0003c0005t0080g0052 a0003c0030t0007g0037 a0003c0030t0007g0049 a0004c0045t0011g0202 a0005c0105t0021g0270 a0006c0009t0005g0273 a0006c0009t0009g0043 a0006c0009t0009g0265 a0006c0009t0019g0272 a0007c0008t0008g0078 a0007c0008t0008g0286 a0008c0013t0028g0241 a0008c0013t0028g0250 a0008c0013t0044g0236 a0012c0012t0049g0217 a0014c0138t0012g0005 a0018c0019t0024g0017 a0018c0019t0024g0034 a0018c0019t0024g0278 a0020c0026t0007g0140 a0025c0088t0013g0165 a0030c0031t0012g0019 a0032c0142t0030g0178 a0037c0055t0005g0076 a0038c0137t0016g0015 a0046c0115t0006g0035 a0048c0136t0025g0011 a0056c0134t0008g0014 a0057c0120t0050g0249 a0065c0065t0025g0029 a0068c0113t0021g0031 a0070c0146t0048g0172 a0073c0147t0045g0175 a0085c0135t0078g0016 a0100c0068t0019g0252 a0103c0104t0008g0023	53	292	0.1815	-132	c.281 others(19): Show c.2812-1811_2812-1680del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RPH3AL_chr17_207389_357807	215978	CCACCCAC others(125): Show CCACCCACATGGCTGCCGGGCTCTGGCCTGACCCCACCCACATGGCTGCC GGGCTCTGGCCTGACCTCACCCACATGGCTGCCGGGCTCTGGCCTGACCC CACCCACATGGCTGCCGGGCTCTGGCCTGACCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG02818.hp1 HG01243.hp2 HG02723.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0027 a0001c0001t0006 a0001c0001t0022 a0001c0001t0027	a0001c0001t0006g0120 a0001c0001t0022g0071 a0001c0001t0027g0118 a0001c0001t0006g0120 a0001c0001t0022g0071 a0001c0001t0027g0118	3	133	0.0226	-132	c.728 others(15): Show c.728-308_728-177del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RUNDC3B_chr7_87623398_87837296	87626223	TGTCATAT others(125): Show TGTCATATATATGTGTCATATATATGTCATATATATGTGTCATATATGTG TCATATATATGTGTCATATATGTGTCATATATATGTGTCGTATATGTGTC ATATATATGTGTCGTATATGTGTCATATATATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG03225.hp2 HG01346.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0186 a0001c0001t0011g0198 a0001c0001t0006g0186 a0001c0001t0011g0198	2	202	0.0099	-132	c.-26 others(11): Show c.-2600_-2469del	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2174		chr7	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	CTCTTTCT others(125): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0050 a0001c0004t0004g0050	1	370	0.0027	-132	c.-47 others(11): Show c.-4727_-4596del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCCPDH_chr1_246719409_246773137	246764974	AGTATAAT others(125): Show AGTATAATTACTGTCAGAGACAGACAGGTCCACTTGTGAACTGTGGTATA ATTACTGTCAGAGACAGACAGGTCCACTTGTGAACTGTGGTATAATTACT GTCAGAGACAGACAGGTCCACTTGTGAACTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp2 others(134): Show HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18959.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19078.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0005 a0001c0007 others(2): Show a0001c0001 a0001c0005 a0001c0007 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0005t0013 a0001c0007t0008 a0003c0004t0003 a0004c0006t0001	a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0039 others(98): Show a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0039 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0022 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0117 a0001c0001t0003g0122 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0159 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0219 a0001c0001t0005g0014 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0265 a0001c0001t0005g0266 a0001c0001t0005g0267 a0001c0001t0007g0057 a0001c0001t0007g0271 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0007g0274 a0001c0001t0008g0024 a0001c0001t0008g0268 a0001c0001t0008g0270 a0001c0001t0009g0128 a0001c0001t0009g0136 a0001c0001t0009g0137 a0001c0001t0009g0158 a0001c0001t0009g0276 a0001c0001t0010g0010 a0001c0001t0010g0147 a0001c0001t0010g0160 a0001c0001t0012g0004 a0001c0001t0014g0124 a0001c0001t0015g0260 a0001c0005t0013g0105 a0001c0007t0008g0251 a0003c0004t0003g0043 a0003c0004t0003g0149 a0004c0006t0001g0252	137	410	0.3342	-132	c.110 others(17): Show c.1102+749_1103-821del	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCCPDH_chr1_246719409_246773137	246765106	GGTATAAT others(125): Show GGTATAATTACTGTCAGAGACAGACAGGTCCACTTGTGAACTGTGGTATA ATTACTGTCAGAGACAGACAGGTCCACTTGTGAACTGTGGTATAATTACT GTCAGAGACAGACAGGTCCACTTGTGAACTGTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00673.hp1 others(90): Show HG00280.hp2 HG00423.hp1 HG00673.hp1 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp1 HG02155.hp2 HG02300.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG03239.hp2 HG03490.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18946.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18966.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18975.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18987.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19056.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19076.hp1 NA19077.hp1 NA19082.hp2 NA19083.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0004	a0001c0001t0001g0049 a0001c0001t0002g0001 a0001c0001t0002g0013 others(66): Show a0001c0001t0001g0049 a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0059 a0001c0001t0002g0068 a0001c0001t0002g0083 a0001c0001t0002g0150 a0001c0001t0002g0161 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0011g0048 a0001c0002t0004g0241	93	410	0.2268	-132	c.110 others(17): Show c.1102+766_1103-804del	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288686	TGTCCCTG others(125): Show TGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18983.hp1 NA18980.hp2 NA18983.hp1	a0002 a0027 a0002 a0027	a0002c0002 a0027c0027 a0002c0002 a0027c0027	a0002c0002t0001 a0027c0027t0001 a0002c0002t0001 a0027c0027t0001	a0002c0002t0001g0096 a0027c0027t0001g0020 a0002c0002t0001g0096 a0027c0027t0001g0020	2	290	0.0069	-132	c.166 others(17): Show c.1662+653_1662+784del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288704	CGAGTCTC others(125): Show CGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCC TGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0157 a0005c0011t0001g0157	1	290	0.0035	-132	c.166 others(17): Show c.1662+669_1662+800del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288811	TCCCCCGA others(125): Show TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCC	T T	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0139 a0003c0004t0003g0139	1	290	0.0035	-132	c.166 others(17): Show c.1662+778_1662+909del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289073	CCCCGAGT others(125): Show CCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	290	0.0035	-132	c.166 others(19): Show c.1662+1041_1663-1062del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289149	CCGTGTCC others(125): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	290	0.0035	-132	c.166 others(18): Show c.1662+1114_1663-989del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4128544	CAGAGCAG others(125): Show CAGAGCAGCTTGGGGTGGGGTGCCCTGGAGGAGAGCATAGAGGAGAGCAG CTTGGGGTGGGGTCCCCTGGAGGAGAGCAGCTTGGGGTTGGGTGCCCTGG AATAGAGCAGCTTGGGGTGGGGTGCCCTGGAAT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0007 a0007	a0007c0044 a0007c0044	a0007c0044t0001 a0007c0044t0001	a0007c0044t0001g0020 a0007c0044t0001g0020	1	116	0.0086	-132	c.393 others(19): Show c.3939+1077_3940-1204del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	26/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73500576	TTCTCCTC others(125): Show TTCTCCTCCATCCTCTGTCCATCCTCCTTCTATCTCCTCCATCCTCTCTC CATCTTCCCTCTATTCTCCTCCATCCCTCCTCACTCCATCTCCTCCATCC ATCCTCCCTCCATTCTCCTCCATCCTCCTTCCG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0061 a0002c0061	a0002c0061t0002 a0002c0061t0002	a0002c0061t0002g0158 a0002c0061t0002g0158	1	204	0.0049	-132	c.224 others(17): Show c.224+6730_224+6861del	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SENP5_chr3_196862920_196939714	196918028	GGCCGGGC others(125): Show GGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGA GGCAGGTGGATCACGAGGTCAGATCGAGACCATCCTGGCTAACACGGTGA AACTCTGTCTCTACTAAAAATACAAAAAAATTA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03225.hp1 HG03225.hp2 others(1): Show HG02976.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0021 a0001c0005t0075 a0001c0005t0021 a0001c0005t0075	a0001c0005t0021g0085 a0001c0005t0021g0086 a0001c0005t0021g0088 others(1): Show a0001c0005t0021g0085 a0001c0005t0021g0086 a0001c0005t0021g0088 a0001c0005t0075g0084	4	306	0.0131	-132	c.188 others(19): Show c.1885-5378_1885-5247del	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SHISAL2A_chr1_52628168_52662065	52636099	ATGTGGAG others(125): Show ATGTGGAGCTTTGGGGCTGGTCAGAATCTGTCACTTATTATCTATGTGGA TTGGAAAAGTTATTTAACTTCCTAGTATTTTCTCTCAACTTTAAAATGGT GATAGAGATATTTGTGTGATAGTACAGAGACAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02809.hp2 NA18747.hp1 others(8): Show HG00558.hp1 HG02809.hp2 NA18747.hp1 NA18941.hp2 NA18955.hp1 NA18957.hp2 NA18979.hp1 NA18988.hp1 NA19058.hp2 NA19083.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0268 a0001c0001t0001g0269 others(8): Show a0001c0001t0001g0031 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0282	11	444	0.0248	-132	c.182 others(17): Show c.182+2676_182+2807del	SHISAL2A	ENSG00000182183.15	transcript	ENST00000517870.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC10A6_chr4_86818468_86854384	86829432	AGCCTCTG others(125): Show AGCCTCTGAATGTAACATCCCCTCTTCCTCTCTCTACCAAAGATTTCAAA GTTTAATATCCACCAAGAGCAAATGGGGAACACTTAAGTTTGTTCAGAAA ATGTGTCAGATCTAAAATTAAAATGGAACTAAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	350	0.0029	-132	c.586 others(17): Show c.586-1396_586-1265del	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	3/5			chr4	TogoVar
SLC13A3_chr20_46552828_46656459	46656293	AATATACT others(125): Show AATATACTATACAGTATATATTATACTGTATATGATATACTATACAGTAT ATATTATACTGTATATGATATACTATACAGTATATATTATACTGTATATG ATATACTATACAGTATATATTATACTGTATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG02630.hp1 HG02970.hp2 others(1): Show HG01361.hp1 HG02630.hp1 HG02970.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0062 a0001c0001t0002g0228 a0001c0001t0003g0061 others(1): Show a0001c0001t0001g0062 a0001c0001t0002g0228 a0001c0001t0003g0061 a0001c0003t0001g0060	4	390	0.0103	-132	c.-50 others(11): Show c.-5004_-4873del	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding		4835		chr20	TogoVar
SLC19A1_chr21_45507565_45547440	45527560	TGCAGGCC others(125): Show TGCAGGCCCTGGAGGTGAGTGGCAGCAGGGCAGGGTGGGCCCTGGAGGTG AGTGGCAGCCAGGCAGGGCGGGCCCTGGAGGTGAGTGGCAGTCAGTTACT GCGGGCCCTGGAGGTGAGTGGCAGCCAGGCAGG	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0134 a0002c0002t0005g0134	1	318	0.0031	-132	c.115 others(19): Show c.1152-1734_1152-1603del	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	4/5			chr21	TogoVar

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