Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SHOX_chrX_625791_656584	636489	CATATATA others(205): Show CATATATAAACATATATATACATAAAATATATATATAAACATATATATAC ATATAAAAATATATATAAACATATATACATATAAAGAAATATATATAAAC ATATATACATATAAAATATACATATATAAACATATATATACATATAAAGA AATATATATAAACATATATACATATAAAATATACATATATAAACATATAT ATACATAAAATAT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0147 a0001c0001t0119g0147	1	215	0.0047	-212	c.486 others(17): Show c.486+1730_486+1941del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC9A3_chr5_465456_529449	495379	TCCCCGCG others(205): Show TCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGC CGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGC TCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCC ATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCC CACGCTCCACTCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	194	0.0052	-212	c.212 others(17): Show c.212-3520_212-3309del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	508349	GCAGGCCT others(205): Show GCAGGCCTCAGCGCGCCCGGGGATGGAGATGCCGCAGGGAAACTCAGGCC TCAGCGCGCCCGGGGATGGAGATGCCGCAGGGAGACGCAGCCCATAGCGC GCCTGGGATGGAGATGCCGCAGGGAGACACAGCCCATAGTGTGCCCGGGA TGGAGATGCCGCAGGGAGACACAGCCCATAGTGTGCCCGGGATGGAGATG CCGCAGGGAAACT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03688.hp2 HG04115.hp1 HG01243.hp1 HG03688.hp2 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0030 a0001c0003 a0001c0009 a0001c0030	a0001c0003t0008 a0001c0009t0008 a0001c0030t0008 a0001c0003t0008 a0001c0009t0008 a0001c0030t0008	a0001c0003t0008g0152 a0001c0009t0008g0151 a0001c0030t0008g0150 a0001c0003t0008g0152 a0001c0009t0008g0151 a0001c0030t0008g0150	3	211	0.0142	-212	c.211 others(19): Show c.211+15551_211+15762del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SNTG2_chr2_945849_1372613	1056428	TGCTGTGG others(205): Show TGCTGTGGGGAGGGAGGGAGAGCGTCGCGCTGTGCTGTGGGGAGGGAGGG AGGGAGAGCGCAGCGCCACGCTGTGGGGAGGGAGGGAGGGAGAGCACGGC GCCCCGCTGTGGGGAGGGAGGGAGGGAGAGCGCAGCGCCACGCTGTGGGG AGGGAGGGAGGGAGAGCACGGCGCCCCGCTGTGGGGAGGGAGGGAGGGAG AGCGCAGCGCCAC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0190 a0003c0008t0001g0190	1	188	0.0053	-212	c.73- others(17): Show c.73-27048_73-26837del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SRGAP2B_chr1_144882288_145100328	144883890	GAAAAGCC others(205): Show GAAAAGCCACGGCGGCGGGGGGTAAAAAGCCGCGGCGGTCAAAAAGCCGA GGCGGGGTGGGGGGGGGGGAGGGGGGGAAGCCGCGGCGGCGGGGGGCGAA AAGCCACGGCGGCGGGGGGTAAAAAGCCGCGGCGGTCAAAAAGCCGAGGC GGGGTGGGGGGTGGGGGGGGGGAAGCCGCGGCGGGGGGCGAAAAGCCACG GCGGTGGGGGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0054 a0003c0003t0004g0055 a0003c0003t0004g0054 a0003c0003t0004g0055	2	39	0.0513	-212	c.80 others(11): Show c.8058_*8269del	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3397		chr1	TogoVar
SUPT3H_chr6_44821726_45382934	45257949	ACAGCATT others(205): Show ACAGCATTCTGTTTTTAATAGTGATATTTCCATTTACGAAACATAATAAT TCTCGATCACGGAAAACCTCAAATCCCAGAAAACGTAGCATTCCTAGGCA TGATGTTAACATCGTTCTTGAATAATTGTTAGCCAAAGATTCATTTATTG AATCCAATTTTTCTGAAATAGATGATTCTGACGAATCAGACAATTCTGAT ATTAGTTCTGTTT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	262	0.0038	-212	c.101 others(21): Show c.101+107040_101+107251del	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
TM4SF19_chr3_196318547_196343388	196334846	TAGGAGAA others(205): Show TAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGG TGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGT GGGTGTAGGAGAGGGAAGGGTGCCCTGAGAAGGTGGGGGTTAGGAGAAGG GAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAG AAGGTGGGGGTTA	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04199.hp1 HG03688.hp2 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	2	365	0.0055	-212	c.-2+ others(15): Show c.-2+3206_-2+3417del	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TMEM185A_chrX_149591556_149636792	149605273	AGCCTCCC others(205): Show AGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTATGGCCTCCCAT GTCACTTTCTATGGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACT TTCTATAGCCTCCCATGTCACTTTCTATAGCCTCCCATGTCACTTTCTAT GGCCTCCCATGTCACTATGGCCTCCCATGTCACTTTCTATGGCCTCCCTT GTCACTTTCTATG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02109.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0031 a0001c0001t0018g0032 a0001c0001t0018g0031 a0001c0001t0018g0032	2	229	0.0087	-212	c.424 others(17): Show c.424-1415_424-1204del	TMEM185A	ENSG00000269556.9	transcript	ENST00000600449.8	protein_coding	3/6			chrX	TogoVar
TMEM18_chr2_658877_682406	671353	CCCTCCTG others(205): Show CCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGAGGCA GGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGAG GCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGA GAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGA GGAGAGGCAGGGT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01993.hp2 HG02486.hp1 others(13): Show HG01167.hp2 HG01993.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02970.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp2 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0007 a0001c0002t0021 a0001c0002t0005 a0001c0002t0007 a0001c0002t0021	a0001c0002t0005g0033 a0001c0002t0005g0051 a0001c0002t0007g0007 others(3): Show a0001c0002t0005g0033 a0001c0002t0005g0051 a0001c0002t0007g0007 a0001c0002t0007g0034 a0001c0002t0007g0058 a0001c0002t0021g0057	16	215	0.0744	-212	c.233 others(17): Show c.233+1243_233+1454del	TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4			chr2	TogoVar
TNC_chr9_115014575_115123157	115095482	ATATATAT others(205): Show ATATATATATGTATATATATGTATATATATATGTATATATATGTATATAT ATATGTATATATATGTATATATATGTATATATATGTATATATATGTATAT ATATGTATATATATGTATATATATATGTATATATGTATATATATATGTAT ATATATGTATATATATATGTATATATATGTATATATATATGTATATATAT GTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA19030.hp1 HG04115.hp1 NA19030.hp1	a0004 a0004	a0004c0004 a0004c0018 a0004c0004 a0004c0018	a0004c0004t0002 a0004c0018t0004 a0004c0004t0002 a0004c0018t0004	a0004c0004t0002g0325 a0004c0018t0004g0213 a0004c0004t0002g0325 a0004c0018t0004g0213	2	361	0.0055	-212	c.-13 others(19): Show c.-136-4540_-136-4329del	TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	1/27			chr9	TogoVar
TRAP1_chr16_3653037_3722524	3673875	AAGACCAC others(205): Show AAGACCACAGGCCCTTCCCAGAGCGCCTGGCAGGACAGCATCCACTGATC CACAGCAGATGATGTAGGCTCTGAGGGCCCTCCCCAGGCACACCCCAGTC CACAAGCCTCCACCCCAGCCTGCACTGAGATGCCCATCAATCCTTCCCTC GCCATGTGTGACCCCTGAGACAGAGGAAACCTCTGTGGTTACCCACCCAG AGGCATCTGTTCT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0193	1	410	0.0024	-212	c.104 others(17): Show c.1044+252_1044+463del	TRAP1	ENSG00000126602.11	transcript	ENST00000246957.10	protein_coding	9/17			chr16	TogoVar
ZNF516_chr18_76352682_76500242	76393398	AGGCAGGT others(205): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0006 a0006	a0006c0039 a0006c0039	a0006c0039t0001 a0006c0039t0001	a0006c0039t0001g0181 a0006c0039t0001g0181	1	316	0.0032	-212	c.181 others(21): Show c.1811-13307_1811-13096del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394095	AGGCAGGT others(205): Show AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	332	0.0030	-212	c.181 others(21): Show c.1811-14004_1811-13793del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394426	AGGTGGTC others(205): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19010.hp1 HG03195.hp1 NA19010.hp1	a0003 a0005 a0003 a0005	a0003c0048 a0005c0008 a0003c0048 a0005c0008	a0003c0048t0030 a0005c0008t0002 a0003c0048t0030 a0005c0008t0002	a0003c0048t0030g0039 a0005c0008t0002g0154 a0003c0048t0030g0039 a0005c0008t0002g0154	2	337	0.0059	-212	c.181 others(21): Show c.1811-14335_1811-14124del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ACAP3_chr1_1287391_1312930	1289843	CCGTGTCC others(204): Show CCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG04115.hp2 HG02602.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0042 a0001c0002t0001g0043	2	289	0.0069	-211	c.35 others(11): Show c.3510_*3720del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2547		chr1	TogoVar
ADARB2_chr10_1172313_1742525	1237978	CTCCCGGT others(204): Show CTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TTACTCCCTGCA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0031 a0001c0001t0029g0031	1	100	0.0100	-211	c.136 others(19): Show c.1361+3942_1362-4134del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237997	CCCTGCCT others(204): Show CCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGT GTTTACTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	104	0.0096	-211	c.136 others(19): Show c.1361+3923_1361+4133del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ALDH7A1_chr5_126536841_126600219	126550454	ATTGATAA others(204): Show ATTGATAATAAGTAAAAAATTTTGGGATTTTTCCCCTAATTATCAGAAAC AAATATTAACACATTCTTCCTTTCATTCAAGCTACTACATATAATAGCTA ATATCTATTGAGCTCTTACGTGTGTAACACACCAATCTAAGCACTTAACA TGCATTTAGTTATTTAATCCTCATCCTATAACACAGGTTTCCTACTACCT CCCAATTTACAG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0241 a0001c0001t0004g0241	1	378	0.0026	-211	c.131 others(17): Show c.1318-372_1318-162del	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	14/17			chr5	TogoVar
BTBD19_chr1_44803523_44820585	44816358	ACACACAC others(204): Show ACACACACACACACACACACACACATAGATGTGTGTGTATATTATATATA CACATAGATGTGTGTGTATATTATATATACACATAGATGTGTGTGTATAT TATATATACACATAGATGTGTGTGTATATTATATATACACATAGATGTGA GTATATTATATATACACATAGATGTGTGTATATTATATATACACATAGAT GTGTGTATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0007 a0001c0001t0072g0007	1	434	0.0023	-211	c.25 others(11): Show c.2587_*2797del	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		774		chr1	TogoVar
DAGLB_chr7_6404129_6452954	6421309	AGGCAGCG others(204): Show AGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAG GCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCG GGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAG CGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAG GCAGCGCGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03492.hp2 HG03831.hp2 others(3): Show HG00642.hp1 HG03492.hp2 HG03831.hp2 NA18962.hp1 NA18978.hp1 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0101 others(3): Show a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0101 a0001c0002t0002g0125 a0001c0002t0002g0135 a0001c0002t0004g0121	6	288	0.0208	-211	c.121 others(17): Show c.1218+207_1218+417del	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DDX51_chr12_132131594_132149319	132134707	CGCTCCTC others(204): Show CGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTC CCCGAGTGTGCCCACGGTGCCCCTCCTCCCACCTCCCGAGTGTGCCCACG GTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCC CACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTG CCCCGGTGCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0014 a0011c0015t0014	a0011c0015t0014g0031 a0011c0015t0014g0031	1	317	0.0032	-211	c.43 others(11): Show c.4354_*4564del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1886		chr12	TogoVar
DOCK1_chr10_126900428_127457516	126928460	GTGTCCTT others(204): Show GTGTCCTTGTTAAGAAGAGGAGGGACACATGAGAACTCAGCTGTGTCCTG AGAGCTGTGTCCTCGGCTGGTGTCCATGTGTCTCAGGCCCTGCCCCCAAG GGCCTCAGTGGAGCCTGCAGTCTGACTTGTGAACTTGCCCAGTATTCTTA AGCCTCCAGCTTAAGGTGTGGTCATACTGGGTTAGGGTGGGCCTTTAATC CAATATGCGTGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03098.hp1 HG03516.hp2 HG02055.hp1 HG03098.hp1 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0034 a0003c0003 a0001c0034 a0003c0003	a0001c0034t0001 a0003c0003t0003 a0001c0034t0001 a0003c0003t0003	a0001c0034t0001g0015 a0003c0003t0003g0014 a0003c0003t0003g0088 a0001c0034t0001g0015 a0003c0003t0003g0014 a0003c0003t0003g0088	3	134	0.0224	-211	c.46+ others(17): Show c.46+22923_46+23133del	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
ESYT2_chr7_158725997_158834509	158828761	GGGGCTGG others(204): Show GGGGCTGGGGTCTGCACTCGCCCTAGCGGGCAGGTCGCCAGCAGGCTGGG AGTCGGGGCCGGGGGGCGGGGCGGGGTCTGCACTCACCTAGGTTGGCAGG TCGCAGGAACCGGCCCGGGGGCCGGGGCTGGGGTCTGCACTCGCCCAGGC GGAAGGGAAGCGCCTGCCTGGACCGGGGTGGGTGGGGGACTACGAAGGCG GGAGCCGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03490.hp1 HG03942.hp1 HG01106.hp1 HG03490.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013	3	368	0.0082	-211	c.330 others(15): Show c.330+117_330+327del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
HDAC4_chr2_239043168_239406020	239280970	AATGAACA others(204): Show AATGAACACACCACTCTACACACAATGTACACACCACTCTCAATGTACAC ACCACTCTCAATGTACATACCACTCTACAATGTACACACCACTCTTAATG TACACACGACTCTCAATGTACACACCACTCTACACACAATGTACACACCA CTCTCAATGTACACACCACTCTACAATGAACACACCACTCTACACACAAT GTACACACCACT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0019 a0001c0003t0004g0019	1	240	0.0042	-211	c.23- others(17): Show c.23-44517_23-44307del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	2/26			chr2	TogoVar
KRTAP5-1_chr11_1579342_1590283	1581180	CGTGGGGG others(204): Show CGTGGGGGTCCATATCTTGGGACCATGGGGGGTCTATATGTCAGGACCGT GGGGGTCTATATCTAAGGACCGTGGGGTTCTGTATCTCAGGACCGTGGGG GTCCATATCTAGGGACCGTGGGGGTCCATATCTAGGGACCGTGGGGGGTC CATATGTCGGGACCGTGGGGGTGTCTATATCTCGGGACCGTGGGGGTCCA TATCTAAGGACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0001 a0009c0007t0001	a0009c0007t0001g0000 a0009c0007t0001g0000	1	427	0.0023	-211	c.30 others(11): Show c.3022_*3232del	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding		3161		chr11	TogoVar
LMNB2_chr19_2423166_2461959	2433457	ACCCCCAT others(204): Show ACCCCCATCAGCTGGGTCACCCCGTTACCCCCATGCCCCGGTCATTCCGG TCACCTTGTCCCCTGCCTCGCATTGGCCGACGGCCCCGTCACCCTGACCC TGGTCACCCCCATCAGCTGGGTCACCCCGTTACCCCCATGCCCCGGTCAT TCCGGTCACCTTGTCCCCTGCCTCGTATTGGCCGGCGGCCCCGTCACCCT GACCCTGATCAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp2 HG02897.hp1 others(4): Show HG02257.hp2 HG02630.hp2 HG02897.hp1 HG03041.hp1 HG03209.hp2 HG03453.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0005 a0001c0001t0022 a0001c0012t0017 a0001c0001t0005 a0001c0001t0022 a0001c0012t0017	a0001c0001t0005g0031 a0001c0001t0005g0183 a0001c0001t0005g0184 others(3): Show a0001c0001t0005g0031 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0228 a0001c0001t0022g0182 a0001c0012t0017g0213	7	354	0.0198	-211	c.148 others(17): Show c.1482+158_1482+368del	LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11			chr19	TogoVar
MRM3_chr17_777353_797509	790707	ACCCCCCC others(204): Show ACCCCCCCACCCGCTGATTGGCCACCTCAACTGTGCCACCACACCCCCAC CGGCTGATTGGCTGGCTCACCTCCTGTGCCGCCACAGCGCCACCGCTGAT TGGCCGGCTCACCCCCTGTGCCGCCACAGCACCACCAGTGATTGGCAGGC TCACCTGTGCCACCACACCCCCACCCGCTGATTGGCCAGCTCACCTCCTG TGCCACCACACC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18950.hp2 NA19060.hp2 others(3): Show HG02809.hp1 NA18950.hp2 NA19060.hp2 NA19063.hp1 NA19082.hp1 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0094 others(1): Show a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0094 a0002c0002t0001g0104	6	392	0.0153	-211	c.728 others(15): Show c.728-819_728-609del	MRM3	ENSG00000171861.11	transcript	ENST00000304478.9	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYT1L_chr2_1784113_2336275	2036081	CACAATCT others(204): Show CACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTC CCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTT CTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAA CTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCT AACTTCTCCCCA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	98	0.0102	-211	c.-15 others(21): Show c.-158+17686_-158+17896del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64235406	CATGGTGG others(204): Show CATGGTGGGTGATGCTGGGATGGTCATGGTGGGTGACCCTGGGATGGCCG CGGTGGGTGACCCTGGAATGGTCATGATGGGTGACCCTGGGCTGGCTGAG TGACCCTGGGCTGGCCATGGTATGTGACCCGGGGCTGGCCGTGGTATGTG ACCCCGGGATGGTCATGGTGTGTGACCCGGGGCTGGCCATGGTGGGTGAC CCCGAGCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG02630.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0054 a0001c0001t0001g0059	2	221	0.0090	-211	c.289 others(18): Show c.2898-1148_2898-938del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22			chr20	TogoVar
MYZAP_chr15_57586904_57690364	57687440	TAATATGT others(204): Show TAATATGTGTGTACAATATACACATATATATAATATGTGTGTACAATATA CACATATATATGTGTGTACAATATACACATATATATGTGTGTACAATATA CACATATATATGTGTGTACAATATACACATATATATGTGTGTACAATATA CACATATATATAATATGTGTGTACAATATACACATATATATAATATGTGT GTACAATATACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02738.hp1 NA18964.hp1 others(1): Show HG01243.hp2 HG02738.hp1 NA18964.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0209 a0001c0001t0001g0274 a0001c0003t0003g0132 others(1): Show a0001c0001t0001g0209 a0001c0001t0001g0274 a0001c0003t0003g0132 a0001c0003t0003g0134	4	313	0.0128	-211	c.29 others(11): Show c.2943_*3153del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2077		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688180	TATATGTG others(204): Show TATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATA TATATGTGTGTACAATATACACATATATTATGTGTGTACAATATACACAT ATATTATGTGTGTACAATATACACATATATAATATGTGTGTACAATATAC ACATATATATAATATGTGTGTACAATATACACATATATATAATATGTGTG TACAATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 NA18941.hp1 NA18946.hp2 others(10): Show HG02132.hp2 NA18941.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18999.hp2 NA19057.hp1 NA19064.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0003t0003 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0003t0003 a0002c0002t0002 a0002c0004t0001	a0001c0001t0001g0303 a0001c0003t0003g0136 a0002c0002t0002g0001 others(7): Show a0001c0001t0001g0303 a0001c0003t0003g0136 a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0105 a0002c0004t0001g0204 a0002c0004t0001g0205 a0002c0004t0001g0301	13	329	0.0395	-211	c.36 others(11): Show c.3683_*3893del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2817		chr15	TogoVar
OGFOD3_chr17_82384210_82423586	82386063	CTGGCCTC others(204): Show CTGGCCTCCAGTGATGGGGAGGGGCTGTCTCTGTCCCAGGCTCTCCTCCC CCATCCTGCCTCCGCCTTCCCCGGCCTCCAGTGATGGGGAGGGGCTGTCT CTGTCCCAGGCTCTCCTCTCTGTCCTCCCTCCGCCTTCCCCTGGCCTCTA GTGATGGGGAGTGGCTGTCTCTGTCCCAGGCTCTCCTCTCTGTCCTCCCT CCGTCTTCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0010 a0008c0015t0010	a0008c0015t0010g0317 a0008c0015t0010g0317	1	346	0.0029	-211	c.61 others(11): Show c.6124_*6334del	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding		3146		chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686766	TCCCCCGC others(204): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGA GAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCG CCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	356	0.0028	-211	c.981 others(17): Show c.981+1035_981+1245del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PLEKHN1_chr1_961482_980865	977636	CCAACCCC others(204): Show CCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCC TCCCGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCC CGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCC CCCAACCCCGGGAACTGCCTCCCACCCCCACCAACCCCGGGAACCGCCTC CCAATCCCCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0005 a0002c0006t0006g0005	1	406	0.0025	-211	c.30 others(11): Show c.3062_*3272del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1772		chr1	TogoVar
PLS3_chrX_115556174_115655861	115565342	TACAAAAA others(204): Show TACAAAAATGAAAATACTAATTATTTTAGCATGGGTCTTTTAGTCCTTTG CAGTCTGGACAGATAGATTATCTTAAGTAAATCATTGAACTTGCCCTCAG AGGAATTAGATTCTAGATAGTGCTCTGCCATTGACTCATAATTTGACCTT CGGAAAGTCATTTAAAATTATTATATTAATAACTAATTGAGTACATACAT GTGCCAGACACC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	252	0.0040	-211	c.-9+ others(15): Show c.-9+4084_-9+4294del	PLS3	ENSG00000102024.19	transcript	ENST00000355899.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PXMP2_chr12_132682587_132709985	132693613	GCCCTTGC others(204): Show GCCCTTGCCAGTCAGTGAGCGCCCTTGCCAGTTAGTGAGCGCCCTTGCCA GTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAG TTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGT TAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTTAGCTCCCTTAGCCAGTT AGTTAGTGAGCT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03471.hp1 HG03139.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0075 a0001c0005t0005g0076 a0001c0005t0005g0075 a0001c0005t0005g0076	2	316	0.0063	-211	c.237 others(17): Show c.237-2259_237-2049del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3AL_chr17_207389_357807	303957	GGGGAGGG others(204): Show GGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGAC CGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTA ATAATTATTGAGCAGTGACCGTGTTTCAGGAAAGAGATGGGGAGGGAGGG AGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGA AAGAGTGGGGCA	G G	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	132	0.0076	-211	c.351 others(19): Show c.351+15252_351+15462del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
S1PR4_chr19_3173769_3185332	3174460	TCTCATGG others(204): Show TCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACG CCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCA TGGGACGCCTGTGCCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTG TGTTCTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGTGTTCTCATGG GACGCCTGTGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	381	0.0026	-211	c.-43 others(11): Show c.-4332_-4122del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4308		chr19	TogoVar
SCUBE1_chr22_43192280_43348372	43280959	TTTGGCCA others(204): Show TTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTT GGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGC CATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGT CACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTAT CCTGTCACCTCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01981.hp2 NA19043.hp1 HG00408.hp1 HG01981.hp2 NA19043.hp1	a0003 a0004 a0006 a0003 a0004 a0006	a0003c0001 a0004c0028 a0006c0015 a0003c0001 a0004c0028 a0006c0015	a0003c0001t0051 a0004c0028t0009 a0006c0015t0007 a0003c0001t0051 a0004c0028t0009 a0006c0015t0007	a0003c0001t0051g0217 a0004c0028t0009g0043 a0006c0015t0007g0179 a0003c0001t0051g0217 a0004c0028t0009g0043 a0006c0015t0007g0179	3	237	0.0127	-211	c.484 others(18): Show c.484+9876_484+10086del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368489	ATATATAT others(204): Show ATATATATTATATATATATATATAAAATATATATATATTATATATATATA TAAAATATATATATATTATATATATATAAAATATGTTATATATATATATA AAATATGTTATATATATAATATATATGTTATATATATATATAATATATAT GTTATATATATAAAATATATATATTATATATATATAAAATATATATGTTA TATATATAAAAT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0086 a0001c0002t0006g0086	1	278	0.0036	-211	c.427 others(17): Show c.427+5090_427+5300del	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SIL1_chr5_138941724_139203368	139172843	AGTGCTGA others(204): Show AGTGCTGAGGGGAGTTTTTCTCTATCCTCTGTGACATTTCCAATTTTAGA TAATGCCTCACATCTCTGCCCCCACTCCAGAACCCGCTGATGCCCCCATG ATCCCAAAGAAGACAGCCTACCCTAGAATTCACCCCCAGGATGTTGCAAC ACCACATTTTGTTTTTACATAATTTAAGAGACTAATGCATTAAAAAAATA GATATAGGTTAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	198	0.0051	-211	c.-11 others(19): Show c.-11+25215_-11+25425del	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SQLE_chr8_124993505_125027283	125019276	AAGCAGTG others(204): Show AAGCAGTGTTAGAAATGGAGGAAAAGAGGCCAGGCGAAATGATTCATGCC TGTAATCCCAGCACTTCAGGAGGCCAAGGCAGGAGGATCGCTTAAAGCCA GGAGTTTCACACCAACCTGGACAATAAAGCAAGACCCCATCTCTACAAAA AATTAAAAGATCAGCAAGGCATGGTGGCGTGTGCCTGTAGTCCCAGCTAT TTGGGACTATAT	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	376	0.0027	-211	c.144 others(17): Show c.1444+553_1444+763del	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TM4SF19_chr3_196318547_196343388	196334794	CCTGGGAG others(204): Show CCTGGGAGGGTGGGGGTAGGAGAGAGGAAGGGTGCCCTGAGAAGGTGGGG GTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAG GGTGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGG GTGGGTGTAGGAGAGGGAAGGGTGCCCTGAGAAGGTGGGGGTTAGGAGAA GGGAGGGGTGCA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0072	1	363	0.0028	-211	c.-2+ others(15): Show c.-2+3259_-2+3469del	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196334808	GGTAGGAG others(204): Show GGTAGGAGAGAGGAAGGGTGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGA GGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGTGCCCTGAGAAG GTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGA GGGAAGGGTGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACT GGGAGGGTGGGT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	355	0.0028	-211	c.-2+ others(15): Show c.-2+3245_-2+3455del	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196334879	TGTAGGAG others(204): Show TGTAGGAGAGGGAAGGGTGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAG GGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGTGCCCTGAGAAGG TGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAG GGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACT GGGAGGGTGGGG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG01167.hp1 others(40): Show HG00642.hp1 HG01109.hp2 HG01167.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01433.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp1 NA18992.hp1 NA19004.hp1 NA19030.hp1 NA19030.hp2 NA19085.hp2 NA19090.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001	a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0044 others(30): Show a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0210 a0001c0001t0001g0212 a0002c0002t0001g0009 a0002c0002t0001g0016 a0002c0002t0001g0026 a0002c0002t0001g0071 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0186 a0002c0002t0002g0047 a0002c0004t0001g0061 a0002c0004t0001g0111	43	364	0.1181	-211	c.-2+ others(15): Show c.-2+3174_-2+3384del	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196334923	AGGGAGGG others(204): Show AGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGTGCCCTG AGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTA GGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGG TGCACTGGGAGGGTGGGGGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTG GGGGTTGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	361	0.0028	-211	c.-2+ others(15): Show c.-2+3130_-2+3340del	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196334935	ACTGGGAG others(204): Show ACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGTGCCCTGAGAAGGTGGGGG TTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGG GATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGG GTGGGGGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTGGAGAG GGGAGGGGTGCT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	361	0.0028	-211	c.-2+ others(15): Show c.-2+3118_-2+3328del	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
UBAC2_chr13_99195854_99391504	99345277	TTGGCTGT others(204): Show TTGGCTGTGAAAAATTGTTTATTCAGTAACAAAGATAGGACAGTTATCTC AGAAAAATGTCATTTTATTGCACAGTGTAAGATGGACGGGGGAAAGGAGA AACCACAGAGGAGGAGACAAATAGAAGGAGGTTTCTAAAGCCCGGCTCTC AGAGGAGTGCCTTGGCTGGGCTGATGCTGTACTCTGGATCGAGCTCTCCT TCCTCTGTTCAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03579.hp2 NA19030.hp1 HG02895.hp2 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0311 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0311	3	378	0.0079	-211	c.807 others(17): Show c.807+4714_807+4924del	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
WASHC5_chr8_125019260_125096792	125019276	AAGCAGTG others(204): Show AAGCAGTGTTAGAAATGGAGGAAAAGAGGCCAGGCGAAATGATTCATGCC TGTAATCCCAGCACTTCAGGAGGCCAAGGCAGGAGGATCGCTTAAAGCCA GGAGTTTCACACCAACCTGGACAATAAAGCAAGACCCCATCTCTACAAAA AATTAAAAGATCAGCAAGGCATGGTGGCGTGTGCCTGTAGTCCCAGCTAT TTGGGACTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG02300.hp2 HG01993.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0104 a0001c0001t0001g0001 a0001c0001t0001g0104	2	350	0.0057	-211	c.51 others(11): Show c.5130_*5340del	WASHC5	ENSG00000164961.16	transcript	ENST00000318410.12	protein_coding		4983		chr8	TogoVar
AARSD1_chr17_42945526_42969454	42967115	TATATATA others(203): Show TATATATAAAATATATATTATATAATATATAATATAATATATAAAATATA TATTATATAATATATAATATAATATATAAAATATATATTATATAATATAT AATATAATATATAAAATATATATTATATAATATATAATATAATATATAAA ATATATATTATATAATATATAATATAATATATAAAATATATATTATATAA TATATAATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02257.hp2 others(12): Show HG01884.hp2 HG01891.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG06807.hp1 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0023 a0001c0002t0001g0024 others(4): Show a0001c0002t0001g0008 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049	15	309	0.0485	-210	c.-28 others(11): Show c.-2885_-2676del	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		2662		chr17	TogoVar

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