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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
UNC5A_chr5_176805559_176885898	176859250	AATGCCCT others(176): Show AATGCCCTTGCTAGAGGGCATAGCTGCTACAATGTCCTTGCTAGAGGGCA TGGCTGCTAGAATGCCCTTGCTAGAGGGCATAGCTGCTAGAATGCCCTTG CTAGAGGGCATGGCTGCTAGAATGCCCTTGCTAGAGGGCATAGCTGCTAG AATGTCCTTGCTAGAGGGCATAGCTGCTAGAATG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0061 a0001c0001t0014g0061	1	265	0.0038	-183	c.71- others(15): Show c.71-3370_71-3188del		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14				INFO_REALIGN_3_PRIME	chr5	TogoVar
VSIG8_chr1_159849316_159867657	159857659	ACTGATAA others(176): Show ACTGATAACCCAAGGAAACCCCAACAGGTCCCAGAGTCCCTGATCTTCCA CTCACCCCCGACTGCCCTCATCCAGGGCCCTCTCACCTTGGTTTATGGAG CTGTGGAAGGACTCCTGGTAGGACAGCTCTGAGTGGTAGCTGTGCTGGGA GGTGTAAGACCCAGCTCGATAGGGGTAATGGTGC	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18747.hp2 NA18747.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0109 a0006c0009t0002g0109	1	456	0.0022	-183	c.555 others(10): Show c.555_652+85del	p.His others(5): Show p.His186fs	VSIG8	ENSG00000243284.1	transcript	ENST00000368100.1	protein_coding	4/7	555/1245	185/414			chr1	TogoVar
ZNF618_chr9_113871309_114061593	113955203	CTTAGAGA others(176): Show CTTAGAGAGTTTGACTGGCTGTTGCCACCCTGACTCACCCCGTGGAAGTC ACTGTAAGCTCATGACTGCCCTAATGAATTCAAGGTACCAGATTTCCACA CCCCACCCCCACACTGCAAAGAAAACAGAATTGTAGAATAATTTCAAAAT AGTCTGGTTGTCTAGATTTCTCAGCAGGCACCCA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18906.hp2 HG02647.hp2 NA18906.hp2	a0001 a0001	a0001c0011 a0001c0019 a0001c0011 a0001c0019	a0001c0011t0030 a0001c0019t0093 a0001c0011t0030 a0001c0019t0093	a0001c0011t0030g0155 a0001c0019t0093g0154 a0001c0011t0030g0155 a0001c0019t0093g0154	2	262	0.0076	-183	c.34- others(17): Show c.34-13911_34-13729del		ZNF618	ENSG00000157657.15	transcript	ENST00000374126.10	protein_coding	1/14				INFO_REALIGN_3_PRIME	chr9	TogoVar
AARSD1_chr17_42945526_42969454	42967167	TTATATAA others(175): Show TTATATAATATATAATATAATATATAAAATATATATTATATAATATATAA TATAATATATAAAATATATATTATATAATATATAATATAATATATAAAAT ATATATTATATAATATATAATATAATATATAAAATATATATTATATAATA TATAATATAATATATAAAATATATATTATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG02886.hp1 others(4): Show HG02647.hp1 HG02723.hp2 HG02886.hp1 HG03209.hp1 HG03654.hp2 HG04204.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0070 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0070 a0001c0001t0001g0071	7	162	0.0432	-182	c.-29 others(11): Show c.-2909_-2728del		AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding				2714		chr17	TogoVar
ABCG1_chr21_42214140_42302244	42283837	TCCCCCCG others(175): Show TCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGAC AGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTC CCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCC CCACCTCTGTCCCGCCTGGACAGTTGCGAAGTC	T T	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	313	0.0032	-182	c.735 others(15): Show c.735-546_735-365del		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14				INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42284018	TCCCCCCC others(175): Show TCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGA CAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGT CCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCC CCCACCTCTGTCCCGCCTGGACAGTTGCAAAGT	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	323	0.0031	-182	c.735 others(15): Show c.735-535_735-354del		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14				INFO_REALIGN_3_PRIME	chr21	TogoVar
ACAP2_chr3_195269745_195448020	195303418	AATACATA others(175): Show AATACATACATACATACAAATTAGCTAGGCATGGTGGTGCACACCTGTGG TCCCAGCTACTCAGAAGGCTGAGGCATGAGAATCACTTAAACCCAGGAGG CAGAGGTTGCAGTGAGCCAAGATCATGACACCGTACTCCAGCCTGGGTGA CAGAGTGAGACTCCATCATATGTACATAAATAC	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0081 a0001c0001t0005g0081	1	222	0.0045	-182	c.111 others(19): Show c.1117-1426_1117-1245del		ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	13/22					chr3	TogoVar
ACAP3_chr1_1287391_1312930	1288210	TCTGCTCC others(175): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG02074.hp1 NA19077.hp2 others(2): Show HG01952.hp1 HG02074.hp1 NA19077.hp2 NA19087.hp2 NA19088.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0002 a0001c0001t0003 a0008c0009t0003 a0001c0001t0002 a0001c0001t0003 a0008c0009t0003	a0001c0001t0002g0001 a0001c0001t0002g0152 a0001c0001t0002g0174 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0152 a0001c0001t0002g0174 a0001c0001t0003g0002 a0008c0009t0003g0124	5	286	0.0175	-182	c.51 others(11): Show c.5172_*5353del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding				4180		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289494	TGTCTCTG others(175): Show TGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	291	0.0034	-182	c.38 others(11): Show c.3888_*4069del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding				2896		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289946	TCCCGTGT others(175): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 NA18954.hp1 NA18966.hp1 others(2): Show HG02300.hp1 NA18954.hp1 NA18966.hp1 NA19009.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0049 a0001c0001t0001g0169 a0001c0001t0001g0177 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0003g0002	5	272	0.0184	-182	c.34 others(11): Show c.3436_*3617del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding				2444		chr1	TogoVar
AGMO_chr7_15195317_15567015	15354334	GTATATAC others(175): Show GTATATACACGCGTGTATATAGACGTGTGTATATAGACGTGTGTATACAC GTGTGTGTATACACGTGTGTGTACACACGTGTGTGTATACACACACGTGT GTGTATACACACGTGTGTGTATACACACGTGTGTGTATACACACGTGTGT ATATACACACGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0011 a0004c0008t0011	a0004c0008t0011g0226 a0004c0008t0011g0226	1	189	0.0053	-182	c.126 others(21): Show c.1263+10998_1263+11179del		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12					chr7	TogoVar
ALOXE3_chr17_8090900_8123514	8107816	AGAAAGAA others(175): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG GAGAGAGAGAGAGAGAGAAAGAAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	420	0.0024	-182	c.168 others(17): Show c.1684+470_1684+651del		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15					chr17	TogoVar
ASB3_chr2_53664980_53791953	53671695	GTTGCAGT others(175): Show GTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAAGA GGGAAACTCCTTCTCAAAAAAAAAAAGAAAAGAATCATATGATAGCAGTT TCATTTTCCAAGATGAAAAGTGTTAAATAAAGAAGTTAATGTCTGCTTTT ATGTGAATCGGACCAAAGCCTTTTGTTAATTCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01074.hp1 HG01081.hp1 others(15): Show HG00408.hp2 HG01074.hp1 HG01081.hp1 HG01515.hp2 HG02451.hp2 HG02572.hp2 HG02683.hp2 HG02818.hp1 HG02922.hp1 HG03139.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03927.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0216 others(15): Show a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0273 a0001c0001t0001g0310 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0333 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0323	18	348	0.0517	-182	c.137 others(19): Show c.1370-1187_1370-1006del		ASB3	ENSG00000115239.24	transcript	ENST00000263634.8	protein_coding	9/9					chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	82975582	TATGGAGA others(175): Show TATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGA CCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCAT CCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAG CCGGACTCCATCCTCCCAGGGACCAGAGGCCAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01257.hp2 others(13): Show HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG02451.hp1 HG02559.hp1 HG02886.hp1 HG03041.hp1 HG03225.hp2 HG03486.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0017 a0001c0002t0001 a0001c0003t0015 a0001c0011t0001 a0001c0011t0010 a0001c0011t0017 a0002c0010t0007	a0001c0001t0001g0185 a0001c0001t0002g0177 a0001c0001t0004g0250 others(12): Show a0001c0001t0001g0185 a0001c0001t0002g0177 a0001c0001t0004g0250 a0001c0001t0005g0255 a0001c0001t0014g0251 a0001c0001t0017g0176 a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0003t0015g0194 a0001c0011t0001g0145 a0001c0011t0010g0147 a0001c0011t0010g0148 a0001c0011t0017g0146 a0002c0010t0007g0005 a0002c0010t0007g0218	16	266	0.0602	-182	c.460 others(18): Show c.460-10018_460-9837del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12					chr17	TogoVar
CAMK2B_chr7_44212154_44330594	44227368	GGGGGACA others(175): Show GGGGGACAGACGGAGTGTGGGGGACAGAGGGAGAGTCTGGGGGACAGAGG GGGTGTGGGGGACAGGAGGGGGTGTGGAAGACAGAGGAAGTGTGGGGGAC AGAAGGGGGTATGGGGGGCAGGGGGTGGAGGACAGAGGAGGGTGTGGGGG ACAGAGGGGGATATGGGGGACAGAGGGAGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	237	0.0042	-182	c.146 others(17): Show c.1469-906_1469-725del		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23					chr7	TogoVar
CCDC127_chr5_191868_223153	212428	TGGACAGC others(175): Show TGGACAGCAATGTGAGCACGCTGAGATGCTCGACATTGCACACTGCAGCC ACGATGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCA ATGTGAGCACGCTGAGATGCTCGACATTGCACACTGCAGCCACGACGAGA CAGCACCACACACCCATCAGGATGGGGCAGACG	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0151 a0006c0005t0151	a0006c0005t0151g0070 a0006c0005t0151g0070	1	387	0.0026	-182	c.121 others(17): Show c.121+4119_121+4300del		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2					chr5	TogoVar
CCDC127_chr5_191868_223153	212751	TGAGACAG others(175): Show TGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAATGT GAGCATGCTGAGATGCTCGACATTGCACACTGCAGCCACGATGAGACAGC ACCACACACCCATCAGGATGGGGCAGACGGGACAGCAATGTGAGCACGCT GAGATGCTCGACATTGCACACTGCAGCCACGAC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02071.hp2 HG03669.hp1 others(4): Show HG01361.hp2 HG02071.hp2 HG03669.hp1 NA18941.hp1 NA18968.hp2 NA18988.hp1 NA19064.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0006c0005t0151 a0001c0001t0001 a0006c0005t0151	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0059 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0069 a0006c0005t0151g0070	7	295	0.0237	-182	c.121 others(17): Show c.121+3796_121+3977del		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2					chr5	TogoVar
CDC73_chr1_193117031_193259815	193161730	ATATATAA others(175): Show ATATATAATATATATCATATTATATTGTATATAATATATATCATATTATA TTGTATATAATATATATCATATTATATTGTATATAATATATATCATATTA TATTGTATATAATATATATCATATTATATTGTATATAATATATATCATAT TATATTGTATATAATATATATCATATTATATTG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	216	0.0046	-182	c.972 others(17): Show c.972+9488_972+9669del		CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16				INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP112_chr17_65630537_66197133	65712374	TTAGATCT others(175): Show TTAGATCTCTAAGGAGACTGAAATATTCTGTATTTATATGTCAGGTGGAA CGCTGCCTGGAGAAATGACGGCTAACATTGCTTATATCTCAGGCAGAAAT AGTTTCAAGTACTTTTGATTTATGGCATATTAAAAATGCTTGCAGAAATA ACATAAAACAGGACAGGGCTATTCGCGTCACTA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0043 a0002c0001t0001g0043	1	110	0.0091	-182	c.260 others(21): Show c.2608-23338_2608-23157del		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	23/26					chr17	TogoVar
CEP72_chr5_607340_658553	648179	ATGAGGTG others(175): Show ATGAGGTGTGACCACGAGGCATGGACTGTGAGATGGGACTGTGAGGTATG TGACCATGGGGTGTGGGCTGTGAGGTATCAACCCTGAGTGTGAGATGTGA CTGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTATGACTGTGAGGCA TGGACTGTGAGGTGTGACTGTGAGGTGTGACTG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show HG01256.hp2 HG01258.hp1 HG02451.hp2 NA19010.hp1 NA20129.hp1 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0005 a0003c0003 a0003c0005	a0003c0003t0002 a0003c0005t0002 a0003c0003t0002 a0003c0005t0002	a0003c0003t0002g0023 a0003c0003t0002g0025 a0003c0003t0002g0026 others(3): Show a0003c0003t0002g0023 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0029 a0003c0005t0002g0017 a0003c0005t0002g0022	6	90	0.0667	-182	c.177 others(17): Show c.1778+357_1778+538del		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11				INFO_REALIGN_3_PRIME	chr5	TogoVar
CERCAM_chr9_128415857_128442347	128437888	CACATACA others(175): Show CACATACACGTATATACACGTATATACACATACACGTATATACACGTATA TACACACACGTATATACACGTATATACACACACGTATATACACGTATATA CACACACGTATATACACGTATATACACACACGTATATACACGTATATACA CACACGTATATACACGTATATACACACACGTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02559.hp1 others(9): Show HG01109.hp2 HG02145.hp2 HG02559.hp1 HG02809.hp1 HG02970.hp2 HG02976.hp1 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0011 a0002c0004 others(1): Show a0001c0003 a0001c0011 a0002c0004 a0002c0005	a0001c0003t0003 a0001c0011t0002 a0002c0004t0002 others(1): Show a0001c0003t0003 a0001c0011t0002 a0002c0004t0002 a0002c0005t0002	a0001c0003t0003g0196 a0001c0011t0002g0187 a0002c0004t0002g0190 others(5): Show a0001c0003t0003g0196 a0001c0011t0002g0187 a0002c0004t0002g0190 a0002c0004t0002g0191 a0002c0004t0002g0192 a0002c0005t0002g0009 a0002c0005t0002g0206 a0002c0005t0002g0207	12	388	0.0309	-182	c.10 others(11): Show c.1041_*1222del		CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding				542		chr9	TogoVar
CLN8_chr8_1758789_1791570	1763462	GCCGCGCC others(175): Show GCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCC CGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCC CCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCC CCCGCGCCGCGCCCCGCCCCCCGCCGCGCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01099.hp1 HG01361.hp1 others(21): Show HG00741.hp2 HG01099.hp1 HG01361.hp1 HG01884.hp2 HG02109.hp1 HG02258.hp2 HG02572.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp2 HG02818.hp2 HG03491.hp1 HG03834.hp1 HG03942.hp2 HG04204.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18968.hp2 NA19005.hp1 NA19066.hp1 NA19082.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0019 a0001c0001t0037 a0001c0001t0060 a0001c0001t0073 a0001c0001t0081 a0001c0001t0082	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0020 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0085 a0001c0001t0003g0004 a0001c0001t0004g0003 a0001c0001t0004g0066 a0001c0001t0004g0108 a0001c0001t0006g0001 a0001c0001t0010g0001 a0001c0001t0019g0003 a0001c0001t0037g0003 a0001c0001t0060g0101 a0001c0001t0073g0078 a0001c0001t0081g0004 a0001c0001t0082g0004	24	402	0.0597	-182	c.-54 others(9): Show c.-546_-365del		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding				326		chr8	TogoVar
COL18A1_chr21_45400165_45518720	45437334	TCAGACAC others(175): Show TCAGACACACAGGCACTCTCCTGCGCACACACACACACTCAGACACACAG GCACTCTCCTGCACACACACACTCACACTCAGACACACAGGCACTCTCCT GCACACACACACTCACTCACAGACAGACACACAGGCACTCTCCTGCACAC ACTCACACTCACACACAGGCACTCTCCTGCACA	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01346.hp2 HG01258.hp2 HG01346.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0089 a0001c0004t0001g0278 a0001c0004t0001g0089 a0001c0004t0001g0278	2	282	0.0071	-182	c.107 others(19): Show c.107-30905_107-30724del		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41				INFO_REALIGN_3_PRIME	chr21	TogoVar
COMMD10_chr5_116080025_116298287	116129494	GTATATAT others(175): Show GTATATATATACTATATACTAATGTAATATACATTAGTATATATATACTA TATACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAAT ATACATTAGTATATATATACTATATACTAATGTAATATACATTAGTATAT ATATACTATATACTAATGTAATATACATTAGTA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0336 a0001c0002t0001g0336	1	348	0.0029	-182	c.400 others(17): Show c.400-4565_400-4384del		COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6				INFO_REALIGN_3_PRIME	chr5	TogoVar
CPNE7_chr16_89570758_89602246	89587950	CCCGTGTT others(175): Show CCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGG CCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTG TCACCCACAGATACACGGCCCCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0001 a0004c0020t0001	a0004c0020t0001g0332 a0004c0020t0001g0332	1	346	0.0029	-182	c.928 others(15): Show c.928-723_928-542del		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14				INFO_REALIGN_3_PRIME	chr16	TogoVar
DCAKD_chr17_45018344_45056632	45051706	GGGCCGGG others(175): Show GGGCCGGGAGAGGTTGGGTGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGG CGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGG AGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGG CGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	406	0.0025	-182	c.-64 others(9): Show c.-642_-461del		DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding				75		chr17	TogoVar
DCAKD_chr17_45018344_45056632	45051892	CGCGGGAG others(175): Show CGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCG GGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGG CGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAG GTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0301 a0001c0001t0005g0301	1	370	0.0027	-182	c.-82 others(9): Show c.-828_-647del		DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding				261		chr17	TogoVar
DCTD_chr4_182885091_182922386	182889524	GCCCCTAG others(175): Show GCCCCTAGACATATTTATCAATGTGATGTGATGAAAATGACACACTCCAT CCTAACAGGACTCACAACTCTTGTGACTTGCGGCAATAGAGAAATCTCTA ATTTTCTACCTTTAAGTCTACTGATTCTTTTTTCCACATACCTTTTGTTT TATGTATTTTGGAGCAAACACAGGGCGAGGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0135 a0001c0002t0004g0135	1	374	0.0027	-182	c.16 others(11): Show c.1693_*1874del		DCTD	ENSG00000129187.15	transcript	ENST00000438320.7	protein_coding				566		chr4	TogoVar
DNAH17_chr17_78418697_78582396	78509047	ACTTCTCC others(175): Show ACTTCTCCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAAGC GCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTTGTATTTTT AGCAAAGATGGGTTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGA TCTTGTGATCCACCCACCTTGGCCTCCCCAAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(129): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18959.hp2 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19062.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0004 a0005 others(85): Show a0002 a0004 a0005 a0008 a0009 a0010 a0011 a0014 a0015 a0016 a0019 a0021 a0023 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0035 a0038 a0039 a0044 a0045 a0046 a0047 a0048 a0049 a0051 a0052 a0053 a0056 a0059 a0060 a0061 a0063 a0065 a0067 a0068 a0069 a0070 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0084 a0085 a0089 a0091 a0093 a0095 a0096 a0097 a0098 a0102 a0103 a0104 a0107 a0108 a0109 a0110 a0115 a0118 a0119 a0120 a0122 a0123 a0127 a0128 a0129 a0131 a0132 a0133 a0135 a0137 a0139 a0141 a0142 a0143	a0002c0003 a0002c0038 a0002c0050 others(122): Show a0002c0003 a0002c0038 a0002c0050 a0002c0087 a0002c0089 a0002c0094 a0002c0161 a0002c0178 a0002c0179 a0002c0182 a0002c0230 a0004c0006 a0004c0014 a0004c0044 a0004c0083 a0004c0085 a0004c0099 a0004c0145 a0004c0189 a0005c0012 a0005c0021 a0005c0053 a0005c0067 a0005c0119 a0005c0120 a0005c0186 a0005c0226 a0008c0091 a0008c0181 a0008c0212 a0008c0213 a0009c0140 a0009c0141 a0009c0142 a0009c0144 a0010c0007 a0010c0207 a0011c0013 a0014c0039 a0014c0102 a0015c0162 a0015c0163 a0016c0117 a0016c0220 a0019c0135 a0019c0136 a0021c0122 a0021c0187 a0023c0033 a0023c0228 a0026c0086 a0027c0148 a0028c0104 a0029c0183 a0030c0173 a0031c0123 a0032c0121 a0033c0041 a0035c0030 a0038c0037 a0039c0198 a0044c0155 a0045c0201 a0046c0137 a0047c0152 a0048c0106 a0049c0139 a0051c0118 a0052c0225 a0053c0231 a0056c0096 a0059c0174 a0060c0055 a0061c0057 a0063c0017 a0065c0200 a0067c0219 a0068c0221 a0069c0217 a0070c0211 a0072c0216 a0073c0097 a0074c0143 a0075c0116 a0076c0218 a0077c0158 a0078c0209 a0079c0194 a0080c0160 a0081c0214 a0082c0098 a0084c0215 a0085c0045 a0089c0084 a0091c0196 a0093c0019 a0095c0088 a0096c0197 a0097c0146 a0098c0016 a0102c0074 a0103c0195 a0104c0177 a0107c0203 a0108c0224 a0109c0095 a0110c0107 a0115c0154 a0118c0153 a0119c0185 a0120c0047 a0122c0229 a0123c0170 a0127c0204 a0128c0180 a0129c0164 a0131c0092 a0132c0035 a0133c0024 a0135c0156 a0137c0108 a0139c0078 a0141c0056 a0142c0093 a0143c0073	a0002c0003t0001 a0002c0038t0001 a0002c0050t0002 others(122): Show a0002c0003t0001 a0002c0038t0001 a0002c0050t0002 a0002c0087t0001 a0002c0089t0001 a0002c0094t0001 a0002c0161t0003 a0002c0178t0001 a0002c0179t0001 a0002c0182t0001 a0002c0230t0001 a0004c0006t0001 a0004c0014t0001 a0004c0044t0001 a0004c0083t0001 a0004c0085t0001 a0004c0099t0002 a0004c0145t0002 a0004c0189t0001 a0005c0012t0002 a0005c0021t0001 a0005c0053t0001 a0005c0067t0001 a0005c0119t0001 a0005c0120t0001 a0005c0186t0001 a0005c0226t0002 a0008c0091t0005 a0008c0181t0001 a0008c0212t0001 a0008c0213t0001 a0009c0140t0001 a0009c0141t0001 a0009c0142t0001 a0009c0144t0001 a0010c0007t0002 a0010c0207t0001 a0011c0013t0001 a0014c0039t0001 a0014c0102t0001 a0015c0162t0002 a0015c0163t0001 a0016c0117t0001 a0016c0220t0001 a0019c0135t0001 a0019c0136t0001 a0021c0122t0001 a0021c0187t0002 a0023c0033t0001 a0023c0228t0001 a0026c0086t0001 a0027c0148t0001 a0028c0104t0001 a0029c0183t0002 a0030c0173t0001 a0031c0123t0001 a0032c0121t0001 a0033c0041t0001 a0035c0030t0001 a0038c0037t0002 a0039c0198t0001 a0044c0155t0002 a0045c0201t0001 a0046c0137t0002 a0047c0152t0001 a0048c0106t0001 a0049c0139t0001 a0051c0118t0001 a0052c0225t0001 a0053c0231t0001 a0056c0096t0001 a0059c0174t0002 a0060c0055t0001 a0061c0057t0001 a0063c0017t0001 a0065c0200t0001 a0067c0219t0001 a0068c0221t0001 a0069c0217t0001 a0070c0211t0001 a0072c0216t0001 a0073c0097t0001 a0074c0143t0001 a0075c0116t0001 a0076c0218t0001 a0077c0158t0001 a0078c0209t0001 a0079c0194t0007 a0080c0160t0002 a0081c0214t0001 a0082c0098t0001 a0084c0215t0001 a0085c0045t0001 a0089c0084t0001 a0091c0196t0001 a0093c0019t0001 a0095c0088t0002 a0096c0197t0001 a0097c0146t0001 a0098c0016t0001 a0102c0074t0001 a0103c0195t0001 a0104c0177t0001 a0107c0203t0001 a0108c0224t0001 a0109c0095t0001 a0110c0107t0001 a0115c0154t0001 a0118c0153t0001 a0119c0185t0001 a0120c0047t0001 a0122c0229t0002 a0123c0170t0001 a0127c0204t0002 a0128c0180t0001 a0129c0164t0003 a0131c0092t0001 a0132c0035t0001 a0133c0024t0001 a0135c0156t0002 a0137c0108t0001 a0139c0078t0001 a0141c0056t0001 a0142c0093t0001 a0143c0073t0001	a0002c0003t0001g0047 a0002c0003t0001g0174 a0002c0003t0001g0220 others(129): Show a0002c0003t0001g0047 a0002c0003t0001g0174 a0002c0003t0001g0220 a0002c0038t0001g0212 a0002c0050t0002g0004 a0002c0087t0001g0017 a0002c0089t0001g0039 a0002c0094t0001g0173 a0002c0161t0003g0246 a0002c0178t0001g0150 a0002c0179t0001g0152 a0002c0182t0001g0243 a0002c0230t0001g0187 a0004c0006t0001g0148 a0004c0006t0001g0149 a0004c0014t0001g0014 a0004c0014t0001g0015 a0004c0044t0001g0106 a0004c0083t0001g0151 a0004c0085t0001g0022 a0004c0099t0002g0133 a0004c0145t0002g0068 a0004c0189t0001g0199 a0005c0012t0002g0221 a0005c0012t0002g0222 a0005c0021t0001g0081 a0005c0053t0001g0176 a0005c0067t0001g0045 a0005c0119t0001g0020 a0005c0120t0001g0230 a0005c0186t0001g0086 a0005c0226t0002g0079 a0008c0091t0005g0003 a0008c0181t0001g0234 a0008c0212t0001g0025 a0008c0213t0001g0138 a0009c0140t0001g0074 a0009c0141t0001g0167 a0009c0142t0001g0036 a0009c0144t0001g0093 a0010c0007t0002g0048 a0010c0007t0002g0130 a0010c0207t0001g0117 a0011c0013t0001g0168 a0011c0013t0001g0184 a0014c0039t0001g0211 a0014c0102t0001g0195 a0015c0162t0002g0033 a0015c0163t0001g0158 a0016c0117t0001g0034 a0016c0220t0001g0126 a0019c0135t0001g0180 a0019c0136t0001g0190 a0021c0122t0001g0227 a0021c0187t0002g0169 a0023c0033t0001g0194 a0023c0228t0001g0016 a0026c0086t0001g0238 a0027c0148t0001g0096 a0028c0104t0001g0183 a0029c0183t0002g0092 a0030c0173t0001g0244 a0031c0123t0001g0223 a0032c0121t0001g0038 a0033c0041t0001g0009 a0035c0030t0001g0054 a0038c0037t0002g0101 a0039c0198t0001g0235 a0044c0155t0002g0029 a0045c0201t0001g0140 a0046c0137t0002g0085 a0047c0152t0001g0030 a0048c0106t0001g0103 a0049c0139t0001g0160 a0051c0118t0001g0041 a0052c0225t0001g0006 a0053c0231t0001g0136 a0056c0096t0001g0046 a0059c0174t0002g0153 a0060c0055t0001g0007 a0061c0057t0001g0164 a0063c0017t0001g0078 a0065c0200t0001g0049 a0067c0219t0001g0122 a0068c0221t0001g0139 a0069c0217t0001g0237 a0070c0211t0001g0135 a0072c0216t0001g0124 a0073c0097t0001g0105 a0074c0143t0001g0231 a0075c0116t0001g0037 a0076c0218t0001g0123 a0077c0158t0001g0097 a0078c0209t0001g0125 a0079c0194t0007g0108 a0080c0160t0002g0115 a0081c0214t0001g0137 a0082c0098t0001g0104 a0084c0215t0001g0100 a0085c0045t0001g0109 a0089c0084t0001g0177 a0091c0196t0001g0129 a0093c0019t0001g0127 a0095c0088t0002g0099 a0096c0197t0001g0110 a0097c0146t0001g0131 a0098c0016t0001g0010 a0102c0074t0001g0005 a0103c0195t0001g0242 a0104c0177t0001g0245 a0107c0203t0001g0146 a0108c0224t0001g0120 a0109c0095t0001g0084 a0110c0107t0001g0143 a0115c0154t0001g0087 a0118c0153t0001g0032 a0119c0185t0001g0156 a0120c0047t0001g0091 a0122c0229t0002g0008 a0123c0170t0001g0209 a0127c0204t0002g0147 a0128c0180t0001g0229 a0129c0164t0003g0247 a0131c0092t0001g0134 a0132c0035t0001g0043 a0133c0024t0001g0186 a0135c0156t0002g0161 a0137c0108t0001g0069 a0139c0078t0001g0070 a0141c0056t0001g0073 a0142c0093t0001g0089 a0143c0073t0001g0035	132	250	0.5280	-182	c.423 others(19): Show c.4236+1155_4237-1243del		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	27/80					chr17	TogoVar
DPEP1_chr16_89608642_89643433	89619063	CCCCCCCT others(175): Show CCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC CTGCCCTCCCTGCTCCCTCCCTGCAGCCCCCTG	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03130.hp2 HG02896.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0158 a0002c0002t0001g0159	2	234	0.0085	-182	c.-10 others(19): Show c.-107+5351_-107+5532del		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10				INFO_REALIGN_3_PRIME	chr16	TogoVar
DPH7_chr9_137549444_137583925	137565600	ACTCTGTC others(175): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	229	0.0044	-182	c.641 others(15): Show c.641-628_641-447del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8					chr9	TogoVar
DPH7_chr9_137549444_137583925	137566422	ACTCTGTC others(175): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGATGACT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03471.hp1 HG03209.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0001c0009 a0002c0002	a0001c0009t0002 a0002c0002t0001 a0001c0009t0002 a0002c0002t0001	a0001c0009t0002g0307 a0002c0002t0001g0235 a0001c0009t0002g0307 a0002c0002t0001g0235	2	318	0.0063	-182	c.641 others(17): Show c.641-1450_641-1269del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8					chr9	TogoVar
DPH7_chr9_137549444_137583925	137566542	ACTCTGTC others(175): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGATGACT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	313	0.0032	-182	c.641 others(17): Show c.641-1570_641-1389del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8					chr9	TogoVar
DPH7_chr9_137549444_137583925	137567664	ACTCTGTC others(175): Show ACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01496.hp2 HG00642.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0192 a0001c0001t0001g0074 a0001c0001t0001g0192	2	318	0.0063	-182	c.641 others(17): Show c.641-2692_641-2511del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8					chr9	TogoVar
DPH7_chr9_137549444_137583925	137567694	ACTCTGTC others(175): Show ACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	322	0.0031	-182	c.641 others(17): Show c.641-2722_641-2541del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8					chr9	TogoVar
DPH7_chr9_137549444_137583925	137567814	ACTCTGTC others(175): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	308	0.0032	-182	c.641 others(17): Show c.641-2842_641-2661del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8					chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137441019	CCCCCCCA others(175): Show CCCCCCCAGACCAGGACAGCCCCCCAGACCAGGACAGCCCCCCAGACCAG GACAGCCCCCCAGACCAGGACAGCCCCCCCAGACCAGGACACCCCCTCAG ACAGAACAGTCCCCCAGACCAGGACAGCCCCCCCAGACCAGGACAGCCCC CCAGACCAGGACAGCCCCCCCAGACCAGGACAG	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02451.hp2 HG03453.hp1 others(1): Show HG01952.hp1 HG02451.hp2 HG03453.hp1 NA19030.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0014 a0001c0001 a0014c0014	a0001c0001t0001 a0014c0014t0010 a0001c0001t0001 a0014c0014t0010	a0001c0001t0001g0008 a0001c0001t0001g0049 a0001c0001t0001g0069 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0049 a0001c0001t0001g0069 a0014c0014t0010g0098	4	367	0.0109	-182	c.-21 others(14): Show c.-21+85_-21+266del		ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9					chr9	TogoVar
FIGN_chr2_163597611_163741008	163660705	ATACACAT others(175): Show ATACACATATACATATATATGTATACACATATACATATATATGTATACAC ATATACATATATATGTATACACATATACATATATATGTATATAGATATAC ATATATATACATATACATATATATGTATACATATATACATATATATATGT ATACATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18993.hp1 NA18983.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0035 a0001c0008t0035 a0001c0001t0035 a0001c0008t0035	a0001c0001t0035g0246 a0001c0008t0035g0248 a0001c0001t0035g0246 a0001c0008t0035g0248	2	264	0.0076	-182	c.26- others(17): Show c.26-49081_26-48900del		FIGN	ENSG00000182263.14	transcript	ENST00000333129.4	protein_coding	2/2					chr2	TogoVar
FOXN3_chr14_89151177_89422233	89360753	ACCACCTC others(175): Show ACCACCTCCACCACTACCACCTCCACCACCACCTCCACCACCACCACCTC CAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCT CCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACC TCCACCACCACCACCTCCAGCACCACCTCCACC	A A	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	228	0.0044	-182	c.544 others(18): Show c.544-10127_544-9946del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5					chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241805864	TCCCCCCT others(175): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	289	0.0035	-182	c.16 others(11): Show c.1699_*1880del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding				1578		chr2	TogoVar
GATA5_chr20_62458497_62480995	62476879	TTCTTTTT others(175): Show TTCTTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTTTCTTTCTCGGA GCACACCGGGTGGACCCAGGCTTGGCGGCCATGAAAGTTCTTTTTTCTTT CTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02630.hp1 HG02886.hp2 others(2): Show HG02486.hp1 HG02630.hp1 HG02886.hp2 HG02922.hp1 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0010 a0001c0003 a0004c0010	a0001c0003t0001 a0004c0010t0001 a0001c0003t0001 a0004c0010t0001	a0001c0003t0001g0182 a0004c0010t0001g0017 a0004c0010t0001g0018 a0001c0003t0001g0182 a0004c0010t0001g0017 a0004c0010t0001g0018	5	376	0.0133	-182	c.-11 others(10): Show c.-1153_-972del		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding				885		chr20	TogoVar
GEMIN4_chr17_739421_757264	753052	TTGGAGCG others(175): Show TTGGAGCGCGAAAAAAGGGGCGTCCAAGATGGACGCCATGAGGGGCTACG CGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGTGGGGGGCGTGGAGCGC GAACAAAGGGGCGTGCAAGATGGACGCCATGAGGGGCTACGCGGCCAAAG TGGAGGAGCTGACGAAGAAGGAAGTGGGGGGCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01123.hp2 HG01192.hp2 others(19): Show HG00733.hp2 HG01123.hp2 HG01192.hp2 HG01891.hp2 HG02135.hp2 HG02572.hp1 HG02615.hp1 HG02965.hp1 HG03130.hp2 HG03486.hp1 HG03516.hp1 NA18747.hp2 NA18943.hp1 NA18955.hp1 NA18960.hp2 NA18984.hp1 NA18989.hp2 NA18994.hp1 NA18997.hp1 NA19010.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0012 a0029	a0001c0001 a0002c0004 a0004c0003 others(4): Show a0001c0001 a0002c0004 a0004c0003 a0006c0008 a0006c0013 a0012c0014 a0029c0025	a0001c0001t0001 a0002c0004t0001 a0004c0003t0001 others(4): Show a0001c0001t0001 a0002c0004t0001 a0004c0003t0001 a0006c0008t0001 a0006c0013t0001 a0012c0014t0004 a0029c0025t0001	a0001c0001t0001g0021 a0001c0001t0001g0059 a0001c0001t0001g0060 others(6): Show a0001c0001t0001g0021 a0001c0001t0001g0059 a0001c0001t0001g0060 a0002c0004t0001g0006 a0004c0003t0001g0081 a0006c0008t0001g0009 a0006c0013t0001g0015 a0012c0014t0004g0024 a0029c0025t0001g0080	22	370	0.0595	-182	c.-10 others(10): Show c.-1092_-911del		GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding				789		chr17	TogoVar
GEMIN4_chr17_739421_757264	753166	GCAAGATG others(175): Show GCAAGATGGACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACG AAGAAGGAAGTGGGGGGCGTGGAGCGCGAACAAAGGGGCGTCCAAGATGG ACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAA GTGGGGGGCGTGGAGCGCGAACAAAGGGGCGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01069.hp2 others(29): Show HG00280.hp1 HG00323.hp2 HG01069.hp2 HG01099.hp2 HG01168.hp2 HG01496.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02630.hp1 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02970.hp1 HG03453.hp2 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG06807.hp1 NA18945.hp2 NA18952.hp1 NA18956.hp2 NA18965.hp1 NA18967.hp2 NA18978.hp1 NA18987.hp1 NA19006.hp2 NA19062.hp1 NA19070.hp1 NA19089.hp1	a0001 a0002 a0028 others(3): Show a0001 a0002 a0028 a0032 a0034 a0035	a0001c0001 a0001c0038 a0002c0006 others(4): Show a0001c0001 a0001c0038 a0002c0006 a0028c0026 a0032c0047 a0034c0045 a0035c0024	a0001c0001t0001 a0001c0001t0006 a0001c0038t0001 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0038t0001 a0002c0006t0001 a0028c0026t0001 a0032c0047t0001 a0034c0045t0001 a0035c0024t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0028 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0006g0031 a0001c0038t0001g0083 a0002c0006t0001g0038 a0028c0026t0001g0062 a0032c0047t0001g0095 a0034c0045t0001g0069 a0035c0024t0001g0061	32	317	0.1009	-182	c.-12 others(11): Show c.-1206_-1025del		GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding				903		chr17	TogoVar
GRK4_chr4_2958571_3045760	3016482	TACTCCAG others(175): Show TACTCCAGCCTGTGTACTCCAGCCTGGGTGACAGAGTGAGACTCAATCTC CAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGTGTGTGACTGTAG TCCCAGCTACTCAGAAGGCTGTGGTGGGAGGATTGCTTGAACCCAGGTGG TCAGGGCTGCAGTGAGCCATTATTGCCCACTGC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp2 HG02717.hp2 others(7): Show HG02145.hp1 HG02615.hp2 HG02717.hp2 HG03139.hp1 HG03453.hp2 HG06807.hp2 NA19043.hp1 NA19240.hp1 NA20905.hp1 NA21309.hp1	a0005 a0008 a0016 a0005 a0008 a0016	a0005c0005 a0005c0009 a0008c0008 others(1): Show a0005c0005 a0005c0009 a0008c0008 a0016c0019	a0005c0005t0002 a0005c0009t0001 a0005c0009t0003 others(2): Show a0005c0005t0002 a0005c0009t0001 a0005c0009t0003 a0008c0008t0004 a0016c0019t0001	a0005c0005t0002g0044 a0005c0009t0001g0049 a0005c0009t0001g0050 others(7): Show a0005c0005t0002g0044 a0005c0009t0001g0049 a0005c0009t0001g0050 a0005c0009t0003g0145 a0005c0009t0003g0151 a0008c0008t0004g0008 a0008c0008t0004g0009 a0008c0008t0004g0010 a0008c0008t0004g0011 a0016c0019t0001g0057	10	266	0.0376	-182	c.741 others(17): Show c.741+2666_741+2847del		GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding	8/15				INFO_REALIGN_3_PRIME	chr4	TogoVar
IGLON5_chr19_51306644_51335891	51311053	TCTGAGGG others(175): Show TCTGAGGGAGGAGGGGCTGGGGGCCTGGGCTCCAGGGTCTGAGGGAGGAG GGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCT GGGCTCCAGGGTCTGAGAGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 NA18994.hp2 HG03834.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0003 a0001c0001t0012g0002 a0001c0001t0003g0003 a0001c0001t0012g0002	2	416	0.0048	-182	c.-79 others(9): Show c.-794_-613del		IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding				590		chr19	TogoVar
KCNMB2_chr3_178531436_178849429	178759910	ATATATAT others(175): Show ATATATATATATCCAAGAGGATATATCTATATATATATATATCCAAGAGG ATATATATATATATATATATATCCAAGAGGATATATATATATATATATAT CCAAGAGGATATATCTATATATATATATATATATATCCAAGAGGATATAT CTATATATATATATATAGCCAAGAGGATATATC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	231	0.0043	-182	c.-67 others(19): Show c.-67-47421_-67-47240del		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr3	TogoVar
KIAA0232_chr4_6777727_6889164	6880011	CGCCTCAC others(175): Show CGCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACAGAG GTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTC CCAACACACAGGTCTGTAGTGTCGCCTCACCATCTGTACTGTGTCACTGC AAACTCCCTTCCCAACACAGAGGTCTGCAGTGT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0313 a0001c0001t0028g0313	1	360	0.0028	-182	c.400 others(17): Show c.4009-775_4009-594del		KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9					chr4	TogoVar
KIF1B_chr1_10205570_10386603	10352016	TTCAGAAG others(175): Show TTCAGAAGTTGCTGTTAGGTGAGAGTGGAATGGATTGGAACGGGGAGGTG TGAATAGCAGGTCAGAAGTTGCTGTTAGGTGAGAGTGGAATGGATTGGAA CAGGGGAGGTGTGAATAGCAGGTCAGAAGTTGCTGTTAGGTGAGAGTGGA ATGGATTGGAACGGGGGAGGTGTGAATAGCAGG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02723.hp1 others(2): Show HG02451.hp1 HG02559.hp1 HG02723.hp1 NA18906.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0015 a0001c0002 a0001c0005 a0001c0015	a0001c0002t0008 a0001c0005t0013 a0001c0015t0029 a0001c0002t0008 a0001c0005t0013 a0001c0015t0029	a0001c0002t0008g0205 a0001c0005t0013g0122 a0001c0005t0013g0127 others(2): Show a0001c0002t0008g0205 a0001c0005t0013g0122 a0001c0005t0013g0127 a0001c0005t0013g0169 a0001c0015t0029g0128	5	293	0.0171	-182	c.395 others(17): Show c.3950-514_3950-333del		KIF1B	ENSG00000054523.20	transcript	ENST00000676179.1	protein_coding	37/48				INFO_REALIGN_3_PRIME	chr1	TogoVar
KLK14_chr19_51072897_51087887	51077746	GGGGCCTG others(175): Show GGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTC CCGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGGGGCCTGGACTCCCGGGTCTGAGGGAGGAGGGGCTGGGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT	G G	splice_region_variant splice_region_variant	LOW	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	442	0.0023	-182	c.79 others(8): Show c.79_*260del		KLK14	ENSG00000129437.11	transcript	ENST00000650543.2	protein_coding	6/6					chr19	TogoVar
KLK7_chr19_50971468_50988917	50982888	ACCCCTCC others(175): Show ACCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCGCCTCCCT CAGACCTAGGAGTCCAGGCCCCCAGCTCCTCCTCCCTCAGACCTAGGAGT CCAGGTCCAAGTCCCTCCTCCCTCAGGCTCAGGAGTCCAGGCCCCAACCC CTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	382	0.0026	-182	c.-58 others(15): Show c.-58-613_-58-432del		KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	1/5					chr19	TogoVar

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