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
CLN8_chr8_1758789_1791570	1763513	GCCGCGCC others(125): Show GCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCC CGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCC CCGCGCCGCGCCCCGCCCCCCGCCGCGCCCCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0003	1	413	0.0024	-132	c.-49 others(9): Show c.-495_-364del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		275		chr8	TogoVar
CNTNAP2_chr7_146111801_148425998	147084243	CATATATG others(125): Show CATATATGCATAATGCTATATATGTATATATAATACATATATGCATAATG CTATATATGTATATATAATCCATATATGCATAATGCTATATATGTATATA TAATATATGCATAATGCTATATATGTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0034 a0001c0001t0012g0034	1	40	0.0250	-132	c.551 others(19): Show c.551-23835_551-23704del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL18A1_chr21_45400165_45518720	45442892	CGGTGCTG others(125): Show CGGTGCTGATGTGGGTGGTGGTGCTGGTGTGGGCGGTGGTGGTGCTGGTG TGGGCAGCGGTGCTGATGTGGGTGGTGGTGCTGGTGTGGGTGGCGGTGCT GGTGTGGGCGGCGGTGCTGATGTGGGTGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02572.hp1 others(6): Show HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG03098.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 NA18906.hp2	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0014	a0001c0022 a0001c0038 a0001c0098 others(3): Show a0001c0022 a0001c0038 a0001c0098 a0004c0100 a0008c0101 a0014c0039	a0001c0022t0001 a0001c0038t0004 a0001c0098t0001 others(3): Show a0001c0022t0001 a0001c0038t0004 a0001c0098t0001 a0004c0100t0001 a0008c0101t0005 a0014c0039t0009	a0001c0022t0001g0008 a0001c0022t0001g0021 a0001c0022t0001g0131 others(6): Show a0001c0022t0001g0008 a0001c0022t0001g0021 a0001c0022t0001g0131 a0001c0038t0004g0028 a0001c0038t0004g0029 a0001c0098t0001g0007 a0004c0100t0001g0039 a0008c0101t0005g0027 a0014c0039t0009g0197	9	292	0.0308	-132	c.107 others(19): Show c.107-25335_107-25204del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110252788	AGTATGTA others(125): Show AGTATGTATTACATATACAGATAACTATAAGTACGTATGTATTACATATA CAGATAACTATAAGTACGTATGTATTACATATACAGATAACTATAAGTAC GTATGTATTACATATACAGATAACTATAAGTAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp1 HG02895.hp2 HG02145.hp1 HG02723.hp1 HG02895.hp2	a0002 a0003 a0002 a0003	a0002c0004 a0002c0011 a0003c0009 a0002c0004 a0002c0011 a0003c0009	a0002c0004t0001 a0002c0011t0001 a0003c0009t0001 a0002c0004t0001 a0002c0011t0001 a0003c0009t0001	a0002c0004t0001g0190 a0002c0011t0001g0216 a0003c0009t0001g0191 a0002c0004t0001g0190 a0002c0011t0001g0216 a0003c0009t0001g0191	3	344	0.0087	-132	c.85- others(17): Show c.85-10186_85-10055del	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355385	GGGGGGAG others(125): Show GGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGTACT AGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT GGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0003 a0002c0017t0003	a0002c0017t0003g0126 a0002c0017t0003g0126	1	372	0.0027	-132	c.100 others(17): Show c.100-2023_100-1892del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CRLF2_chrX_1185490_1217649	1211489	ATGGATAA others(125): Show ATGGATAAGTGGATAAAAGTGTGGGTGAATGCATGGATAGATGGATGTAT TGGTGGATGGATGGGTGGATGGATGGATGGATGGATAAGTGGATAAAAGT GTGGGTGAATGCATGGATAGATGGATGTATTGG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18906.hp1 HG02965.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0014 a0001c0003t0001g0015 a0001c0002t0002g0014 a0001c0003t0001g0015	2	167	0.0120	-132	c.79+ others(14): Show c.79+935_79+1066del	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	1/7			chrX	TogoVar
CSMD1_chr8_2930361_4999914	3777756	TGCAGAGT others(125): Show TGCAGAGTCTCAGTTCCCACTCCAGACCCACAGCCTCCTTGAAGCGCAGA GTCTCAGTTCCCACTCCAGACCCGCAGCCTCCTTGAAGTGCAGAGTCTCA GTTCCCACTCCAGACCCGCAGTCTCCTTGAAGC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19030.hp1 HG03579.hp2 NA19030.hp1	a0001 a0020 a0001 a0020	a0001c0019 a0020c0024 a0001c0019 a0020c0024	a0001c0019t0078 a0020c0024t0077 a0001c0019t0078 a0020c0024t0077	a0001c0019t0078g0105 a0020c0024t0077g0104 a0001c0019t0078g0105 a0020c0024t0077g0104	2	126	0.0159	-132	c.819 others(19): Show c.819-23846_819-23715del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4486122	CATATATA others(125): Show CATATATATATATATACATACATATATATATATATACATACATATATATA TATACATACATATATATATATATATATACATACATATATATATATATATA TATACATACATATATATATATATACATACATAT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0034 a0034	a0034c0055 a0034c0055	a0034c0055t0034 a0034c0055t0034	a0034c0055t0034g0047 a0034c0055t0034g0047	1	126	0.0079	-132	c.303 others(19): Show c.303-66189_303-66058del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CX3CR1_chr3_39258496_39285036	39283642	TGGTGGCG others(125): Show TGGTGGCGGGTGCCTGTAATCCCAACTACTTGGGAGGCTGAGGCAGGAGA ATCGCTTGAAACCGGAAGGTGGAGGTTGCAGTGAGCCGAGATAGCGCCAC TGCACTCCAGCCTGGGCGAAAGAGCGAGACTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	420	0.0024	-132	c.-38 others(11): Show c.-3830_-3699del	CX3CR1	ENSG00000168329.14	transcript	ENST00000399220.3	protein_coding		3607		chr3	TogoVar
CYTH1_chr17_78669048_78787273	78760385	ACACACAC others(125): Show ACACACACATACATATATATATGTGTATATATATATATATACACATACAT ATATATATGTATATATATATACATACATATATATATGTATATATATGTAT GTATATATATATACATATATATGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01081.hp1 HG01109.hp1 others(31): Show HG00621.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01346.hp1 HG02083.hp2 HG02451.hp1 HG02451.hp2 HG02647.hp1 HG02735.hp1 HG02896.hp2 HG03098.hp1 HG03209.hp2 HG03540.hp1 NA18522.hp1 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18961.hp2 NA18962.hp2 NA18978.hp2 NA18981.hp2 NA18984.hp2 NA18994.hp2 NA18999.hp2 NA19004.hp2 NA19056.hp1 NA19060.hp2 NA19068.hp2 NA19087.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0002t0010	a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0243 others(31): Show a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0272 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0301 a0001c0001t0002g0305 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0003g0351 a0001c0001t0003g0355 a0001c0001t0003g0363 a0001c0001t0003g0364 a0001c0001t0003g0365 a0001c0001t0003g0366 a0001c0001t0003g0372 a0001c0001t0007g0209 a0001c0001t0007g0211 a0001c0001t0013g0353 a0001c0002t0010g0359	34	378	0.0900	-132	c.22+ others(17): Show c.22+21685_22+21816del	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DCDC2C_chr2_3698575_3853008	3725401	GGCAGAGA others(125): Show GGCAGAGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCCAGAGGAAGACGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00438.hp1 others(111): Show HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01071.hp2 HG01099.hp2 HG01168.hp2 HG01257.hp1 HG01346.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02056.hp2 HG02074.hp2 HG02135.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02970.hp2 HG03041.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03516.hp1 HG03669.hp2 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp2 NA19081.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0000 a0001 a0002 others(2): Show a0000 a0001 a0002 a0004 a0005	a0000c0011 a0001c0001 a0001c0002 others(5): Show a0000c0011 a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0004c0007 a0005c0010	a0000c0011t0023 a0001c0001t0001 a0001c0001t0002 others(23): Show a0000c0011t0023 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0005t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0011 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0004c0007t0001 a0004c0007t0002 a0005c0010t0019	a0000c0011t0023g0046 a0001c0001t0001g0020 a0001c0001t0001g0025 others(111): Show a0000c0011t0023g0046 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0168 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0048 a0001c0001t0002g0072 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0142 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0245 a0001c0001t0002g0297 a0001c0001t0002g0307 a0001c0001t0003g0004 a0001c0001t0003g0023 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0317 a0001c0001t0004g0080 a0001c0001t0004g0267 a0001c0001t0004g0316 a0001c0001t0005g0049 a0001c0001t0006g0051 a0001c0001t0006g0293 a0001c0001t0007g0062 a0001c0001t0007g0076 a0001c0001t0007g0077 a0001c0001t0007g0083 a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0007g0095 a0001c0001t0007g0153 a0001c0001t0007g0312 a0001c0001t0015g0074 a0001c0001t0015g0151 a0001c0001t0021g0106 a0001c0001t0022g0073 a0001c0001t0026g0050 a0001c0002t0001g0006 a0001c0002t0001g0145 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0002g0021 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0096 a0001c0002t0002g0119 a0001c0002t0002g0122 a0001c0002t0002g0150 a0001c0002t0003g0005 a0001c0002t0003g0043 a0001c0002t0003g0063 a0001c0002t0003g0103 a0001c0002t0003g0107 a0001c0002t0004g0261 a0001c0005t0001g0229 a0002c0003t0001g0204 a0002c0003t0001g0219 a0002c0003t0003g0189 a0002c0003t0011g0234 a0002c0004t0001g0187 a0002c0004t0002g0182 a0002c0004t0002g0184 a0002c0004t0002g0192 a0002c0004t0003g0193 a0002c0004t0003g0202 a0002c0004t0003g0203 a0002c0004t0003g0318 a0004c0007t0001g0081 a0004c0007t0001g0082 a0004c0007t0002g0028 a0004c0007t0002g0041 a0005c0010t0019g0242	114	324	0.3519	-132	c.340 others(17): Show c.340-1593_340-1462del	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725467	CGGTGGAT others(125): Show CGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02559.hp2 others(5): Show HG01891.hp2 HG02257.hp1 HG02559.hp2 HG02723.hp2 HG03098.hp2 HG03130.hp2 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0020	a0001c0002t0001g0323 a0001c0002t0002g0303 a0001c0002t0004g0012 others(5): Show a0001c0002t0001g0323 a0001c0002t0002g0303 a0001c0002t0004g0012 a0001c0002t0008g0173 a0001c0002t0008g0174 a0001c0002t0008g0175 a0001c0002t0008g0176 a0001c0002t0020g0169	8	324	0.0247	-132	c.340 others(17): Show c.340-1526_340-1395del	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX51_chr12_132131594_132149319	132148890	ACCTCGGT others(125): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03516.hp1 NA18612.hp2 HG03239.hp2 HG03516.hp1 NA18612.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0006c0011t0001 a0001c0001t0001 a0006c0011t0001	a0001c0001t0001g0001 a0006c0011t0001g0021 a0001c0001t0001g0001 a0006c0011t0001g0021	3	334	0.0090	-132	c.-47 others(11): Show c.-4726_-4595del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4572		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149094	TACCACAC others(125): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	334	0.0030	-132	c.-49 others(11): Show c.-4930_-4799del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4776		chr12	TogoVar
DIRAS1_chr19_2709567_2726372	2713537	TCACCTCC others(125): Show TCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACGCACCACCT CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCA CCCTTCATCCCATTCCTCACTTCCTACACCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0054 a0001c0001t0028g0054	1	412	0.0024	-132	c.35 others(11): Show c.3541_*3672del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1029		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713581	CCACCTCC others(125): Show CCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCT CCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCA CCCTTCATCCCATCCCTCACTTCCTACACCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG03654.hp2 others(1): Show HG00140.hp1 HG00140.hp2 HG03654.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0051 a0001c0001t0003 a0001c0001t0051	a0001c0001t0003g0003 a0001c0001t0051g0079 a0001c0001t0003g0003 a0001c0001t0051g0079	4	412	0.0097	-132	c.34 others(11): Show c.3497_*3628del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		985		chr19	TogoVar
DLC1_chr8_13078361_13519851	13453396	ATATATGT others(125): Show ATATATGTGTATATATATATATATATATGTGTATATATATATGTATATAT ATACATATATATATGTATATATATACATATATATGTATATATATACATAT ATATATGTATATATATATACATATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0042 a0001c0001t0042g0042	1	212	0.0047	-132	c.102 others(21): Show c.1023+45521_1023+45652del	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1013766	CTGTGTGT others(125): Show CTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGCGTGTGTGACCAGG ACAGACGGTGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTG TGTGTATGACCAGGACAGACGACGCCTCCACTG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0028 a0002c0001t0005g0028	1	40	0.0250	-132	c.73+ others(19): Show c.73+105809_73+105940del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1090008	ACTCTGGA others(125): Show ACTCTGGAGCCCTCCTGGCCAGGCAGGGGTGGAAACTCATACCCCGAGGA CCTGCTGCCTGTCTGCACTCTGGAGCCCTCCTGGGCAGACAGGGGTGGAA ACTCACACCCCGAGGACCTGCTGCCTGTCTGCG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0010 a0002c0004t0018g0010	1	40	0.0250	-132	c.74- others(19): Show c.74-168821_74-168690del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMRT1_chr9_836697_974090	871518	TTTTTGGT others(125): Show TTTTTGGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACA GACGCGAGCCACCGCGCCGGCTAACTTTTTGTA	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG03041.hp2 others(1): Show HG01516.hp1 HG01517.hp1 HG03041.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0236 a0001c0001t0004g0276 a0001c0001t0004g0277 others(1): Show a0001c0001t0004g0236 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0007g0245	4	306	0.0131	-132	c.539 others(19): Show c.539-22389_539-22258del	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAH9_chr17_11593470_11974748	11694646	CTCGCTTT others(125): Show CTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCT CGCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCT TTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00597.hp1 others(8): Show HG00099.hp1 HG00438.hp2 HG00597.hp1 HG01928.hp2 HG02258.hp2 HG02970.hp2 HG02976.hp1 HG04204.hp1 NA18906.hp2 NA20129.hp1 NA20905.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0007 a0046 a0054 a0076	a0001c0001 a0001c0024 a0001c0093 others(8): Show a0001c0001 a0001c0024 a0001c0093 a0001c0142 a0002c0005 a0002c0008 a0004c0072 a0007c0016 a0046c0110 a0054c0143 a0076c0119	a0001c0001t0001 a0001c0024t0001 a0001c0093t0001 others(8): Show a0001c0001t0001 a0001c0024t0001 a0001c0093t0001 a0001c0142t0001 a0002c0005t0001 a0002c0008t0001 a0004c0072t0001 a0007c0016t0001 a0046c0110t0001 a0054c0143t0001 a0076c0119t0001	a0001c0001t0001g0088 a0001c0024t0001g0006 a0001c0093t0001g0166 others(8): Show a0001c0001t0001g0088 a0001c0024t0001g0006 a0001c0093t0001g0166 a0001c0142t0001g0046 a0002c0005t0001g0081 a0002c0008t0001g0090 a0004c0072t0001g0093 a0007c0016t0001g0172 a0046c0110t0001g0126 a0054c0143t0001g0045 a0076c0119t0001g0036	11	178	0.0618	-132	c.487 others(17): Show c.4872+202_4872+333del	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DOC2B_chr17_137789_186650	171726	GCAGCACC others(125): Show GCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCG GGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGC AGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0203 a0001c0002t0031g0203	1	339	0.0030	-132	c.453 others(15): Show c.453+679_453+810del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOK7_chr4_3458306_3499482	3483080	TGGCAGCC others(125): Show TGGCAGCCTCCTGAGTGGAGATGTAGGGGTGTGGAGGGTGGGGACGGCAG CCTCCTGAGTGGAGATGTAGGGGTGTGGAGGGTGGGGACGGCAGCCTCCT GAGTGGAGATGTAGGGGTGTGGAGGGTGGGGAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00558.hp1 others(85): Show HG00099.hp2 HG00423.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01361.hp2 HG01884.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02129.hp1 HG02145.hp1 HG02300.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02896.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18944.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18997.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19060.hp1 NA19066.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0008 a0016 a0021 a0022	a0001c0001 a0001c0012 a0001c0015 others(7): Show a0001c0001 a0001c0012 a0001c0015 a0002c0002 a0003c0003 a0004c0004 a0008c0009 a0016c0025 a0021c0021 a0022c0016	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0023 a0001c0001t0035 a0001c0012t0003 a0001c0015t0002 a0002c0002t0001 a0003c0003t0004 a0004c0004t0006 a0004c0004t0015 a0008c0009t0003 a0016c0025t0003 a0021c0021t0003 a0022c0016t0006	a0001c0001t0002g0013 a0001c0001t0002g0121 a0001c0001t0002g0176 others(76): Show a0001c0001t0002g0013 a0001c0001t0002g0121 a0001c0001t0002g0176 a0001c0001t0002g0201 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0079 a0001c0001t0003g0097 a0001c0001t0003g0149 a0001c0001t0003g0160 a0001c0001t0003g0177 a0001c0001t0003g0181 a0001c0001t0003g0196 a0001c0001t0003g0202 a0001c0001t0003g0216 a0001c0001t0003g0242 a0001c0001t0003g0265 a0001c0001t0003g0268 a0001c0001t0003g0271 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0302 a0001c0001t0003g0308 a0001c0001t0003g0321 a0001c0001t0003g0324 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0356 a0001c0001t0003g0358 a0001c0001t0003g0368 a0001c0001t0003g0369 a0001c0001t0005g0046 a0001c0001t0005g0187 a0001c0001t0023g0332 a0001c0001t0035g0103 a0001c0012t0003g0014 a0001c0015t0002g0098 a0002c0002t0001g0024 a0002c0002t0001g0041 a0002c0002t0001g0059 a0002c0002t0001g0083 a0002c0002t0001g0138 a0002c0002t0001g0330 a0002c0002t0001g0376 a0003c0003t0004g0093 a0003c0003t0004g0178 a0003c0003t0004g0323 a0003c0003t0004g0331 a0004c0004t0006g0060 a0004c0004t0006g0119 a0004c0004t0006g0163 a0004c0004t0006g0166 a0004c0004t0006g0168 a0004c0004t0006g0174 a0004c0004t0006g0227 a0004c0004t0006g0238 a0004c0004t0006g0239 a0004c0004t0006g0246 a0004c0004t0006g0247 a0004c0004t0006g0248 a0004c0004t0006g0292 a0004c0004t0006g0318 a0004c0004t0015g0120 a0008c0009t0003g0099 a0008c0009t0003g0186 a0008c0009t0003g0188 a0016c0025t0003g0355 a0021c0021t0003g0351 a0022c0016t0006g0372	88	404	0.2178	-132	c.533 others(17): Show c.533-2392_533-2261del	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DPP6_chr7_154047398_154899285	154660878	GTATTGGC others(125): Show GTATTGGCGCTAGTATTCATATAGTCATGGTGAATCACCATGGCGTATTG GCCGTAGTATTCATATAGTCATGGTGAATCACCATGGCATATTGGCGCTA GTATTCATATAGTCATGGTGAATCACCATGGCA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG01952.hp1 others(4): Show HG00558.hp1 HG00673.hp1 HG01952.hp1 HG02280.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0010 a0001c0016 others(3): Show a0001c0003 a0001c0010 a0001c0016 a0001c0017 a0002c0004 a0002c0013	a0001c0003t0007 a0001c0003t0008 a0001c0010t0010 others(4): Show a0001c0003t0007 a0001c0003t0008 a0001c0010t0010 a0001c0016t0013 a0001c0017t0020 a0002c0004t0006 a0002c0013t0018	a0001c0003t0007g0024 a0001c0003t0008g0025 a0001c0010t0010g0009 others(4): Show a0001c0003t0007g0024 a0001c0003t0008g0025 a0001c0010t0010g0009 a0001c0016t0013g0014 a0001c0017t0020g0033 a0002c0004t0006g0028 a0002c0013t0018g0026	7	38	0.1842	-132	c.681 others(17): Show c.681-8424_681-8293del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154661508	GTTCATAT others(125): Show GTTCATATAGTCATGGTGAATCACCATGGCGTATTGGCGCTAGTATTCAT ATAGTCATGGTGAATCACCATGGCGTATTGGCCGTAGTGTTCATATAGTC ATGGTGAATCACCATGGCGTATTGGCCGTAGTA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01433.hp1 HG01978.hp1 others(11): Show HG00673.hp2 HG01433.hp1 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02083.hp2 HG02129.hp1 HG02559.hp1 HG02559.hp2 NA18747.hp1 NA18747.hp2 NA19043.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0001c0007 a0001c0011 others(7): Show a0001c0006 a0001c0007 a0001c0011 a0001c0020 a0001c0021 a0001c0025 a0001c0027 a0002c0002 a0002c0005 a0002c0023	a0001c0006t0002 a0001c0006t0003 a0001c0007t0019 others(11): Show a0001c0006t0002 a0001c0006t0003 a0001c0007t0019 a0001c0011t0003 a0001c0020t0001 a0001c0021t0011 a0001c0025t0001 a0001c0027t0027 a0002c0002t0002 a0002c0002t0022 a0002c0002t0029 a0002c0005t0015 a0002c0005t0024 a0002c0023t0014	a0001c0006t0002g0015 a0001c0006t0003g0013 a0001c0007t0019g0037 others(11): Show a0001c0006t0002g0015 a0001c0006t0003g0013 a0001c0007t0019g0037 a0001c0011t0003g0012 a0001c0020t0001g0010 a0001c0021t0011g0022 a0001c0025t0001g0018 a0001c0027t0027g0007 a0002c0002t0002g0020 a0002c0002t0022g0030 a0002c0002t0029g0002 a0002c0005t0015g0011 a0002c0005t0024g0031 a0002c0023t0014g0017	14	38	0.3684	-132	c.681 others(17): Show c.681-7822_681-7691del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB6_chr22_43523778_43817305	43562561	AGGTGGGA others(125): Show AGGTGGGAGGGAGGCAGCCCGGTGGGGGGTTGGAGGGAGGCAGCCCAGGT CAGGGGTGGGAGGGAGGCAGCCTGGTGCGGGGTGGGAGGGAGGCAGCCCG GTGGGGGATGGGAGGGAGGCAGCCCAGGTCAGG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	290	0.0035	-132	c.342 others(19): Show c.3421-7597_3421-7466del	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	26/31			chr22	TogoVar
EML5_chr14_88607431_88797953	88796392	TTATATGT others(125): Show TTATATGTTATATATTTTATATATATATTATATGTTATATATATTATATA TATTTTATATATATATTATGTTTATATATTATATATATTATATATATTAT ATGTTATATATATTATATATATTATATCTCTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0277 a0002c0002t0001g0277	1	332	0.0030	-132	c.-40 others(11): Show c.-4021_-3890del	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3440		chr14	TogoVar
ENOSF1_chr18_665318_717630	666981	AGATGGTG others(125): Show AGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTG ATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGTGATGGAGAT GGTGATGGTGATGGAGATGGAGATGGAGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0145 a0002c0005t0001g0145	1	418	0.0024	-132	c.71 others(11): Show c.7192_*7323del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3336		chr18	TogoVar
ERBB4_chr2_211370717_212543802	211863095	ATTGTAAA others(125): Show ATTGTAAATGCACAAATCAGCACTCTGTAAAAACACCCCAATCAGCACTC TGTGTCTAGCTAAAGGATTGTAAACACACCAATCAGCACTCTGCAAAAAC GCACCAATCAGTGCTCTGTGTCTAGCTAAAGGT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03195.hp2 HG03453.hp2 others(3): Show HG02615.hp2 HG03195.hp2 HG03453.hp2 HG03516.hp1 HG03516.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0004t0021	a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0047 others(3): Show a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0047 a0001c0001t0004g0008 a0001c0001t0009g0023 a0001c0004t0021g0009	6	56	0.1071	-132	c.422 others(19): Show c.422-75068_422-74937del	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERFL_chr19_41902704_41933449	41914763	CGTCTCTG others(125): Show CGTCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCCT CCACCGTGTCTCCCCCCCTTTCCACCGTCTCTGTCTCTCCCCCCCTCCAC CATCTCTGTCTCTCCCTCCCCTCCATCATCTCT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0261 a0001c0001t0003g0261	1	330	0.0030	-132	c.-13 others(17): Show c.-13-1963_-13-1832del	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERO1B_chr1_236210101_236286958	236245322	ACACACAC others(125): Show ACACACACGTATATATATACGTATATATATACACACGTATATATATACGT ATATATATACACACGTATATATATACGTATATATATACACACGTATATAT ATACGTATATATATACACACGTATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	396	0.0025	-132	c.432 others(17): Show c.432-1959_432-1828del	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
EXOC6B_chr2_72170984_72831033	72401545	GTGTATAT others(125): Show GTGTATATATATATATATATACATATATATATATATACATATATATATAT ATATATATGTGTATATATATATATATACATATATATATATATACATATAT ACATATATATATATATATATATGTATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0074 a0001c0003t0010g0074	1	104	0.0096	-132	c.198 others(21): Show c.1981-21807_1981-21676del	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
FAM210A_chr18_13658347_13731558	13674495	ACTTTATT others(125): Show ACTTTATTTCCAGTTTTCTGATTATTAACATTCCTGAGCCCTGGCTTCTT TATTTCCTGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTTATTTCC AGTTTCCTGATTATTAACATTCCTGAGCCCTAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0040 a0001c0001t0009g0040	1	326	0.0031	-132	c.474 others(17): Show c.474-2654_474-2523del	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FIGN_chr2_163597611_163741008	163660703	GTATACAC others(125): Show GTATACACATATACATATATATGTATACACATATACATATATATGTATAC ACATATACATATATATGTATACACATATACATATATATGTATATAGATAT ACATATATATACATATACATATATATGTATACA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0184 a0001c0002t0004g0184	1	266	0.0038	-132	c.26- others(17): Show c.26-49029_26-48898del	FIGN	ENSG00000182263.14	transcript	ENST00000333129.4	protein_coding	2/2			chr2	TogoVar
FLT4_chr5_180596506_180654600	180639239	ACGGATGG others(125): Show ACGGATGGATGGATGGATGAATGGATGGATGGATGCATGGGTGGGTGGAG GAGTGGATGGGTGGGTGAGTAGAAGGATGGATGGGTGGATGGATGGACAG ACAGATGAATGGATGGATGGACAGGTAGATGAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp2 HG04204.hp2 HG02622.hp2 HG02922.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0277 a0001c0001t0001g0299 a0001c0001t0002g0300 a0001c0001t0001g0277 a0001c0001t0001g0299 a0001c0001t0002g0300	3	388	0.0077	-132	c.59- others(15): Show c.59-7593_59-7462del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FMN1_chr15_32760544_33199714	32949940	CATATATA others(125): Show CATATATATATATATATATATATATACACACATATATATACACACACATA TATATACACATACACATATATATATACACATATATATATATATACACATA TATATATATATACACATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp2 HG02809.hp2 others(2): Show HG02258.hp2 HG02717.hp2 HG02809.hp2 HG03098.hp1 NA20129.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0033	a0001c0002 a0002c0003 a0002c0065 others(2): Show a0001c0002 a0002c0003 a0002c0065 a0005c0005 a0033c0096	a0001c0002t0021 a0002c0003t0007 a0002c0065t0012 others(2): Show a0001c0002t0021 a0002c0003t0007 a0002c0065t0012 a0005c0005t0006 a0033c0096t0030	a0001c0002t0021g0144 a0002c0003t0007g0069 a0002c0065t0012g0021 others(2): Show a0001c0002t0021g0144 a0002c0003t0007g0069 a0002c0065t0012g0021 a0005c0005t0006g0037 a0033c0096t0030g0002	5	196	0.0255	-132	c.313 others(21): Show c.3138+14035_3138+14166del	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20			chr15	TogoVar
FOXN3_chr14_89151177_89422233	89360759	TCCACCAC others(125): Show TCCACCACTACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCAC CACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCA CCACCTCCACCACCACCTCCACCACCACCTCCA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0002 a0001c0001t0031g0002	1	230	0.0044	-132	c.544 others(18): Show c.544-10083_544-9952del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89360774	TCCACCAC others(125): Show TCCACCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCAC CTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCA CCTCCACCACCACCTCCACCACCACCACCTCCA	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0097 a0001c0001t0005g0097	1	230	0.0044	-132	c.544 others(18): Show c.544-10098_544-9967del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89360848	CACCTCCA others(125): Show CACCTCCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCA CCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCC ACCACCACCACCTCCAGCACCACCTCCACCACT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0062 a0001c0001t0014g0062	1	230	0.0044	-132	c.544 others(19): Show c.544-10172_544-10041del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89360859	CCACCTCC others(125): Show CCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCACC ACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCACCACCACCAC CTCCAGCACCACCTCCACCACTACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG01175.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0020 a0001c0001t0012 a0001c0001t0020	a0001c0001t0012g0145 a0001c0001t0020g0003 a0001c0001t0012g0145 a0001c0001t0020g0003	2	230	0.0087	-132	c.544 others(19): Show c.544-10183_544-10052del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89360867	ACCACCAC others(125): Show ACCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCACCACCAC CTCCAGCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAGCA CCACCTCCACCACTACCACCTCCAGCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0115 a0001c0001t0093g0115	1	230	0.0044	-132	c.544 others(19): Show c.544-10191_544-10060del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361083	ACCACCTC others(125): Show ACCACCTCCAGCACCACCACCACCACCACCTCCACCACTACCACCTCCAG CACCACCTCCACCACCACCACCTCCAGCACTACCTCCAGCACCACCTCCA CCACCACCACCTCCAGCACCACCACCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0018 a0001c0001t0057g0018	1	230	0.0044	-132	c.544 others(19): Show c.544-10407_544-10276del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361834	ACCACTAC others(125): Show ACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGCACCAC CTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCACCTCCAGCA CCACCTCCACCACTACCACCTCCAGCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0056 a0001c0001t0010g0056	1	230	0.0044	-132	c.544 others(19): Show c.544-11158_544-11027del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXQ1_chr6_1307098_1319758	1319065	CATGGTGG others(125): Show CATGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGT GGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAA CCCCGTCACTACTAAAAATACAAAATTAGCCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 NA18950.hp2 NA18964.hp2 HG03669.hp1 NA18950.hp2 NA18964.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0000 a0002c0004t0001g0000 a0001c0001t0002g0000 a0002c0004t0001g0000	3	406	0.0074	-132	c.51 others(11): Show c.5150_*5281del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4308		chr6	TogoVar
GALNT9_chr12_132191372_132334589	132266023	CGACCTCG others(125): Show CGACCTCGCCGTATTTCATCAACAGGCACGCACAGCCAACCGCGGGCCTG TCTGCCTTTACACGCCCGATCTCGCCGTATTTCATGAACAGGCACGCACA GCCAACCGCGGGCCTGTCTGCCTTTACACGCCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp2 HG01243.hp1 others(1): Show HG00733.hp1 HG01175.hp2 HG01243.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0018 a0001c0001 a0001c0002 a0001c0018	a0001c0001t0001 a0001c0002t0001 a0001c0018t0001 a0001c0001t0001 a0001c0002t0001 a0001c0018t0001	a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0002t0001g0068 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0002t0001g0068 a0001c0018t0001g0047	4	183	0.0219	-132	c.420 others(17): Show c.420-3530_420-3399del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	2/10			chr12	TogoVar
GATA5_chr20_62458497_62480995	62476934	TTTCTTTC others(125): Show TTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTTTCTTTCTCGGAGCACA CCGGGTGGACCCAGGCTTGGCGGCCATGAAAGTTCTTTTTTCTTTCTTCC TTCCTTTCTTTCTTTCTTTCTTTCTTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0278 a0001c0003t0002g0278	1	382	0.0026	-132	c.-11 others(11): Show c.-1158_-1027del	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		940		chr20	TogoVar
GOLGA3_chr12_132763914_132833869	132787567	TGAGACCC others(125): Show TGAGACCCCGGGACCCCTCCCCAGAACCCCTGGGACCCTTCCCCGGAGAC CCCGGGACCCCTCCCCGGAGACCACGGGACCCCTCCCCGGAGACCCCGGG ACCCCTCCCCGGAGACCCCGGGACCCCTCCCCG	T T	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	308	0.0033	-132	c.281 others(17): Show c.2812-912_2812-781del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132817232	GCTCTAAG others(125): Show GCTCTAAGGTGAACCCCCCCTCCACACCTCCACACTCTAACGTGAACCCG CCCTCCACTCCTCCACGCTCTAAGGTGAACCCGCCCTCCACACCTCCACG CTCTAAGGTGAACCCGCCCTCCACACCTCCACA	G G	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0231 a0002c0002t0002g0231	1	308	0.0033	-132	c.134 others(15): Show c.134-552_134-421del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132817587	TCCTCCAC others(125): Show TCCTCCACGCTCTAAGGTGAACTCACCCTCCACACCTCCACGCTCTAAGG TGAACCCCCCCCCCACACCTCCACACTCTAAGGTGAACTCACCCTCCACT CCTCCACGCTCTAAGGTGAACCCGCCCTCCACA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00438.hp2 others(117): Show HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02280.hp2 HG02293.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18946.hp1 NA18950.hp1 NA18956.hp2 NA18970.hp1 NA18975.hp2 NA18980.hp2 NA18989.hp1 NA18998.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19012.hp1 NA19043.hp1 NA19057.hp2 NA19060.hp2 NA19082.hp1 NA19083.hp1 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0007 a0008 a0012 a0020	a0001c0001 a0001c0003 a0001c0009 others(11): Show a0001c0001 a0001c0003 a0001c0009 a0001c0025 a0001c0034 a0002c0002 a0002c0012 a0004c0005 a0004c0037 a0005c0006 a0007c0016 a0008c0014 a0012c0019 a0020c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0017 a0001c0001t0025 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0001c0001t0055 a0001c0001t0059 a0001c0001t0067 a0001c0003t0002 a0001c0009t0002 a0001c0009t0049 a0001c0009t0058 a0001c0025t0003 a0001c0034t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0012 a0002c0002t0015 a0002c0002t0016 a0002c0002t0034 a0002c0002t0050 a0002c0002t0052 a0002c0002t0053 a0002c0002t0057 a0002c0002t0060 a0002c0012t0002 a0002c0012t0011 a0004c0005t0005 a0004c0005t0023 a0004c0037t0005 a0005c0006t0001 a0005c0006t0014 a0005c0006t0043 a0005c0006t0044 a0005c0006t0062 a0005c0006t0063 a0005c0006t0064 a0005c0006t0065 a0007c0016t0020 a0008c0014t0021 a0012c0019t0038 a0020c0030t0012	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0069 others(117): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0002g0121 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0123 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0010g0244 a0001c0001t0017g0001 a0001c0001t0025g0040 a0001c0001t0032g0107 a0001c0001t0033g0108 a0001c0001t0037g0113 a0001c0001t0055g0009 a0001c0001t0059g0120 a0001c0001t0067g0044 a0001c0003t0002g0196 a0001c0009t0002g0181 a0001c0009t0002g0199 a0001c0009t0002g0201 a0001c0009t0002g0219 a0001c0009t0002g0232 a0001c0009t0049g0202 a0001c0009t0058g0200 a0001c0025t0003g0106 a0001c0034t0001g0062 a0002c0002t0002g0002 a0002c0002t0002g0014 a0002c0002t0002g0168 a0002c0002t0002g0173 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0207 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0231 a0002c0002t0002g0235 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0003g0240 a0002c0002t0006g0182 a0002c0002t0006g0211 a0002c0002t0007g0236 a0002c0002t0012g0233 a0002c0002t0015g0214 a0002c0002t0015g0222 a0002c0002t0016g0170 a0002c0002t0016g0221 a0002c0002t0034g0227 a0002c0002t0050g0237 a0002c0002t0052g0220 a0002c0002t0053g0239 a0002c0002t0057g0184 a0002c0002t0060g0185 a0002c0012t0002g0124 a0002c0012t0011g0125 a0004c0005t0005g0248 a0004c0005t0005g0249 a0004c0005t0005g0250 a0004c0005t0005g0252 a0004c0005t0005g0257 a0004c0005t0005g0258 a0004c0005t0005g0259 a0004c0005t0023g0246 a0004c0005t0023g0256 a0004c0037t0005g0245 a0005c0006t0001g0021 a0005c0006t0014g0018 a0005c0006t0014g0019 a0005c0006t0014g0020 a0005c0006t0043g0004 a0005c0006t0044g0005 a0005c0006t0062g0016 a0005c0006t0063g0013 a0005c0006t0064g0022 a0005c0006t0065g0017 a0007c0016t0020g0253 a0007c0016t0020g0254 a0008c0014t0021g0172 a0012c0019t0038g0024 a0020c0030t0012g0228	120	308	0.3896	-132	c.134 others(15): Show c.134-907_134-776del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132817780	TCCACTCC others(125): Show TCCACTCCTCCACGCTCTAAGGTGAACCCGCACTCCACACCTCCACACTC TAACGTGAACCCGCCCTCCACTCCTCCACGCTCTAAGGTGAACTCACCCT CCACACCTCCACGCTCTAAGGTGAACCCCCCCC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0001 a0017c0022t0001	a0017c0022t0001g0025 a0017c0022t0001g0025	1	308	0.0033	-132	c.134 others(16): Show c.134-1100_134-969del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar

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