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
CYP4F11_chr19_15907377_15939529	15932529	AGAATGAG others(193): Show AGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA G	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0251 a0001c0002t0005g0251	1	95	0.0105	-200	c.198 others(17): Show c.198+1482_198+1681del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933409	GGAATGAG others(193): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA A	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0066 a0002c0001t0066	a0002c0001t0066g0044 a0002c0001t0066g0044	1	367	0.0027	-200	c.198 others(15): Show c.198+602_198+801del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933585	GAGAAGAA others(193): Show GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG C	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02647.hp2 HG06807.hp2 HG01257.hp1 HG02647.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0011 a0002c0001 a0001c0011 a0002c0001	a0001c0011t0015 a0002c0001t0137 a0002c0001t0154 a0001c0011t0015 a0002c0001t0137 a0002c0001t0154	a0001c0011t0015g0174 a0002c0001t0137g0381 a0002c0001t0154g0376 a0001c0011t0015g0174 a0002c0001t0137g0381 a0002c0001t0154g0376	3	328	0.0091	-200	c.198 others(15): Show c.198+426_198+625del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
D2HGDH_chr2_241729630_241773811	241767305	GTTGGGGA others(193): Show GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA C	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0068 a0001c0001t0008g0068	1	402	0.0025	-200	c.130 others(17): Show c.1307-395_1307-196del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS12_chr13_51762993_51809163	51774423	AGTATTCT others(193): Show AGTATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTA TTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACA GTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTAC ATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTA C	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0150 a0002c0002t0003g0150	1	418	0.0024	-200	c.364 others(15): Show c.364-589_364-390del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51774973	AGTATTCT others(193): Show AGTATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTA TTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACA GTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTAC ATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTA C	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0021 a0002c0002t0003g0021	1	383	0.0026	-200	c.364 others(16): Show c.364-1139_364-940del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775248	AGTATTCT others(193): Show AGTATTCTACTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTA TTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACA GTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTAC ATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTA C	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG01109.hp2 others(2): Show HG01081.hp2 HG01106.hp2 HG01109.hp2 HG02273.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0003 a0002c0010t0003 a0002c0002t0003 a0002c0010t0003	a0002c0002t0003g0053 a0002c0002t0003g0168 a0002c0002t0003g0238 others(2): Show a0002c0002t0003g0053 a0002c0002t0003g0168 a0002c0002t0003g0238 a0002c0002t0003g0243 a0002c0010t0003g0244	5	402	0.0124	-200	c.364 others(17): Show c.364-1414_364-1215del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775665	TCTCCTAC others(193): Show TCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACAT GTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTA TTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGT ATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCT C	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	267	0.0037	-200	c.363 others(17): Show c.363+1195_363+1394del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIP2C_chr10_269201_694668	448099	GCAGCAGG others(193): Show GCAGCAGGACCCACTCATCCCCATCTATACTCAGGATCACACACAGTGGG GCAGCAGGACCCGCTCACTCCCGTCGATACTCAGGATCACACACAGTGCG GCAGCAGGACCCACTCATTCCCGTCAATAATCAGGATCACACACAGTGGG GCAGCAGGACCCACTCATCCCTGTCTATACTCAGGATCACACACAGTGGG T	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	88	0.0114	-200	c.269 others(17): Show c.269-7303_269-7104del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	965273	GTGCACAC others(193): Show GTGCACACGGCACTGTTCACCACACAGGGCTCCTGAGTCTGACCCCTGCG CTGCACACGGCACTGTTCACCACACAGGGCTCCTGAGTCTGACCCCTGCG CTGTACACGGCACTGTTCATCACACACGCGGCTCCAGAGCCCGACCCCCG CATGCACACAGCGCTGTTCACCACACAGGGCTCCTGAGTCTGACCCCGCA C	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG02698.hp2 others(5): Show HG01891.hp2 HG02647.hp1 HG02698.hp2 HG02818.hp2 HG02922.hp1 HG02976.hp2 NA18906.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0002c0004 others(3): Show a0001c0002 a0001c0003 a0002c0004 a0002c0006 a0003c0005 a0004c0008	a0001c0002t0001 a0001c0003t0013 a0001c0003t0014 others(5): Show a0001c0002t0001 a0001c0003t0013 a0001c0003t0014 a0001c0003t0017 a0002c0004t0018 a0002c0006t0021 a0003c0005t0002 a0004c0008t0016	a0001c0002t0001g0015 a0001c0003t0013g0007 a0001c0003t0014g0020 others(5): Show a0001c0002t0001g0015 a0001c0003t0013g0007 a0001c0003t0014g0020 a0001c0003t0017g0004 a0002c0004t0018g0010 a0002c0006t0021g0014 a0003c0005t0002g0030 a0004c0008t0016g0028	8	38	0.2105	-200	c.73+ others(17): Show c.73+57394_73+57593del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAI2_chr17_74269234_74319884	74301870	GGAAGGAA others(193): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG AAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA A	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00733.hp2 others(73): Show HG00280.hp2 HG00639.hp1 HG00733.hp2 HG01069.hp2 HG01109.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01358.hp1 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02056.hp2 HG02071.hp1 HG02293.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18946.hp1 NA18951.hp1 NA18972.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp1 NA18986.hp1 NA18998.hp2 NA19003.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19062.hp2 NA19067.hp1 NA19070.hp2 NA19085.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA20805.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0008 a0011 a0016	a0001c0002 a0001c0005 a0001c0007 others(15): Show a0001c0002 a0001c0005 a0001c0007 a0002c0003 a0002c0006 a0002c0008 a0002c0010 a0002c0011 a0002c0014 a0002c0015 a0002c0017 a0003c0019 a0004c0012 a0004c0018 a0007c0016 a0008c0020 a0011c0023 a0016c0036	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(23): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0005t0003 a0001c0007t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0006t0002 a0002c0006t0003 a0002c0008t0001 a0002c0008t0002 a0002c0008t0003 a0002c0010t0003 a0002c0011t0003 a0002c0014t0003 a0002c0015t0003 a0002c0017t0003 a0003c0019t0003 a0004c0012t0003 a0004c0018t0003 a0007c0016t0003 a0008c0020t0003 a0011c0023t0003 a0016c0036t0001	a0001c0002t0001g0104 a0001c0002t0001g0141 a0001c0002t0002g0023 others(68): Show a0001c0002t0001g0104 a0001c0002t0001g0141 a0001c0002t0002g0023 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0291 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0303 a0001c0002t0002g0305 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0319 a0001c0002t0002g0330 a0001c0002t0002g0333 a0001c0002t0002g0343 a0001c0002t0002g0344 a0001c0002t0002g0355 a0001c0002t0002g0357 a0001c0002t0002g0360 a0001c0002t0003g0260 a0001c0002t0004g0154 a0001c0005t0003g0019 a0001c0005t0003g0256 a0001c0005t0003g0258 a0001c0005t0003g0259 a0001c0005t0003g0261 a0001c0005t0003g0263 a0001c0005t0003g0264 a0001c0005t0003g0266 a0001c0007t0002g0022 a0001c0007t0002g0290 a0002c0003t0001g0041 a0002c0003t0002g0287 a0002c0003t0002g0315 a0002c0003t0002g0350 a0002c0003t0003g0197 a0002c0003t0003g0207 a0002c0003t0003g0216 a0002c0003t0003g0217 a0002c0003t0003g0218 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0003t0003g0225 a0002c0003t0003g0229 a0002c0003t0003g0232 a0002c0003t0003g0233 a0002c0003t0003g0234 a0002c0003t0003g0236 a0002c0003t0003g0247 a0002c0006t0002g0327 a0002c0006t0003g0203 a0002c0006t0003g0240 a0002c0006t0003g0244 a0002c0006t0003g0250 a0002c0006t0003g0251 a0002c0008t0001g0172 a0002c0008t0002g0329 a0002c0008t0003g0235 a0002c0010t0003g0254 a0002c0011t0003g0248 a0002c0014t0003g0005 a0002c0015t0003g0015 a0002c0017t0003g0109 a0003c0019t0003g0245 a0004c0012t0003g0016 a0004c0018t0003g0237 a0007c0016t0003g0230 a0008c0020t0003g0020 a0011c0023t0003g0267 a0016c0036t0001g0228	76	394	0.1929	-200	c.987 others(15): Show c.987+742_987+941del	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DOK6_chr18_69395888_69854087	69760763	TTGGGAAG others(193): Show TTGGGAAGCTGCTGATCAGTTTCAGGTGTTTTCTATCTAGTAGGAGCCTG CCTTTCCCGGGGGCTGGCTGTGACCAATTATTACTACTCCTGAAATCTTA TTGGGAAGCTGCTGATCAGTTTCAGGTGTTTTCTGTCTAGTAGGAGCCTG CCTTTCCCGGGGGCCGGTTGTGACCAATTATTACTACTCCTGAAATCTTA C	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG01069.hp1 others(13): Show HG00423.hp2 HG00558.hp1 HG01069.hp1 HG01106.hp1 HG01109.hp2 HG01175.hp1 HG01517.hp1 HG01978.hp2 HG02083.hp1 HG02738.hp1 HG03688.hp2 HG03834.hp1 NA18966.hp1 NA18968.hp1 NA19000.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0040 a0001c0001t0104 a0001c0002t0001 others(11): Show a0001c0001t0040 a0001c0001t0104 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0016 a0001c0002t0047 a0001c0002t0081 a0001c0002t0084 a0001c0002t0099 a0001c0003t0097	a0001c0001t0040g0153 a0001c0001t0104g0090 a0001c0002t0001g0072 others(13): Show a0001c0001t0040g0153 a0001c0001t0104g0090 a0001c0002t0001g0072 a0001c0002t0001g0129 a0001c0002t0001g0134 a0001c0002t0002g0046 a0001c0002t0003g0155 a0001c0002t0004g0045 a0001c0002t0006g0141 a0001c0002t0009g0144 a0001c0002t0016g0109 a0001c0002t0047g0104 a0001c0002t0081g0163 a0001c0002t0084g0126 a0001c0002t0099g0091 a0001c0003t0097g0089	16	120	0.1333	-200	c.856 others(17): Show c.856+3129_856+3328del	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
ENTREP2_chr15_29115252_29575979	29356104	CTTAAAAC others(193): Show CTTAAAACAAGTGCATCTTGTTCTATGTGAGGATGTGAGGATGAGAAGAT TTTTATCTTTGGTTTTGGTAATTTGATAAATGTAGGGTTGAGGATACTTT TGAAAAATCAACAAGATGGTCTAGAAGTGAAGAAGATATGAAATGTATAT ATATGTGTGTGTGTGTATATATATATATATATATATATATATATTTTTTT T	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp1 HG03471.hp1 HG02055.hp1 HG02922.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0001c0011 a0002c0003 a0001c0008 a0001c0011 a0002c0003	a0001c0008t0036 a0001c0011t0010 a0002c0003t0005 a0001c0008t0036 a0001c0011t0010 a0002c0003t0005	a0001c0008t0036g0045 a0001c0011t0010g0116 a0002c0003t0005g0063 a0001c0008t0036g0045 a0001c0011t0010g0116 a0002c0003t0005g0063	3	124	0.0242	-200	c.276 others(19): Show c.276+25471_276+25670del	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
EXOC2_chr6_480154_698139	602246	GAATCCAC others(193): Show GAATCCACACACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA CCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGC A	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02886.hp1 NA19002.hp1 others(1): Show HG00099.hp1 HG02886.hp1 NA19002.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0020 a0001c0001 a0001c0002 a0001c0020	a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 a0001c0020t0001	a0001c0001t0001g0072 a0001c0001t0004g0076 a0001c0002t0004g0022 others(1): Show a0001c0001t0001g0072 a0001c0001t0004g0076 a0001c0002t0004g0022 a0001c0020t0001g0200	4	270	0.0148	-200	c.743 others(17): Show c.743-3221_743-3022del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
FLT4_chr5_180596506_180654600	180617169	ATCCTACT others(193): Show ATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCAC GTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACACAC GTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGACTCTGGGACACCCAC GTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGACTCTGGGACACCCAC G	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03139.hp1 HG02886.hp2 HG03139.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0021 a0002c0012t0001 a0002c0012t0021	a0002c0012t0001g0053 a0002c0012t0021g0175 a0002c0012t0001g0053 a0002c0012t0021g0175	2	385	0.0052	-200	c.300 others(17): Show c.3002-375_3002-176del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	21/29			chr5	TogoVar
FOCAD_chr9_20679259_21000950	20817594	GCATTGGG others(193): Show GCATTGGGTTGTTCTGGGCATTCTGCTCATATAAATGAGATCATATAACA TGAGGCCTTTTGTGGCTTTTTTTTCTCTTAGCATAATGTTTTCAAGGTTC ATCCATGTTGTAGCATGTATCAGTACTTTATTTATTTTTATGGCTGAATA ATATCCCATTTTATGGTTATACTGTATTTTGTTTATTCATCAGTTGATGG A	G G	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0271 a0002c0002t0001g0271	1	318	0.0031	-200	c.145 others(19): Show c.1456-2189_1456-1990del	FOCAD	ENSG00000188352.13	transcript	ENST00000338382.11	protein_coding	11/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
FUT8_chr14_65407730_65749121	65692396	CGGGCGGG others(193): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGAGGGGGGCTGACCCCCCGCACCTCCCTCCCGGACGGGGCGGCTGGC T	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0112 a0001c0001t0026g0112	1	298	0.0034	-200	c.835 others(19): Show c.835+22936_835+23135del	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALP_chr19_56171008_56190775	56176046	CTGCCAGC others(193): Show CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG A	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA20129.hp2 NA21309.hp2 HG02145.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0008 a0002c0003t0008 a0001c0001t0008 a0002c0003t0008	a0001c0001t0008g0318 a0001c0001t0008g0319 a0002c0003t0008g0317 a0001c0001t0008g0318 a0001c0001t0008g0319 a0002c0003t0008g0317	3	410	0.0073	-200	c.-40 others(14): Show c.-40+75_-40+274del	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176158	GCGGGGTG others(193): Show GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA C	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0095 a0002c0003t0001g0095	1	434	0.0023	-200	c.-40 others(15): Show c.-40+136_-40+335del	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176358	CCGGGGTG others(193): Show CCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CGGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCA G	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG03669.hp2 others(1): Show HG01168.hp1 HG01169.hp2 HG03669.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0073 a0001c0001t0003g0022 a0001c0001t0003g0072 a0001c0001t0001g0073 a0001c0001t0003g0022 a0001c0001t0003g0072	4	346	0.0116	-200	c.-40 others(15): Show c.-40+331_-39-478del	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176450	CAGCTGCA others(193): Show CAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCC CAGCTGCACGGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGC CAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGTGGATGC CAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGTGGATCC A	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00609.hp1 others(49): Show HG00423.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02300.hp2 NA18943.hp2 NA18945.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18966.hp2 NA18970.hp2 NA18975.hp2 NA18980.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp2 NA18999.hp2 NA19002.hp2 NA19009.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0111 a0001c0001t0002g0004 a0001c0001t0002g0007 others(39): Show a0001c0001t0001g0111 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0067 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0003g0007 a0001c0001t0003g0028 a0001c0001t0003g0105 a0001c0001t0003g0118 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0004g0112 a0001c0002t0001g0068 a0001c0002t0002g0125 a0001c0002t0002g0129 a0001c0002t0002g0130	52	441	0.1179	-200	c.-40 others(15): Show c.-40+396_-39-413del	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176459	CGGGGTGA others(193): Show CGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCAC GGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAG CGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGTGGATGCCAGCTGCAC CGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGTGGATCCAAGCTGCAC T	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0229 a0002c0003t0010g0229	1	364	0.0027	-200	c.-40 others(15): Show c.-40+431_-39-378del	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GET4_chr7_871554_901436	889773	TAGGACGG others(193): Show TAGGACGGGGCCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGA GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT C	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02273.hp1 HG01261.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	2	229	0.0087	-200	c.467 others(16): Show c.467-1145_467-946del	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	890199	CGAGCGGG others(193): Show CGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGTGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTG T	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02273.hp1 NA19063.hp1 HG01261.hp2 HG02273.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0036 a0001c0001t0002g0178 a0001c0001t0001g0036 a0001c0001t0002g0178	3	368	0.0082	-200	c.467 others(15): Show c.467-709_467-510del	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GOLGA3_chr12_132763914_132833869	132793002	AGACCGCA others(193): Show AGACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACG GGACCCGCACTCGGAGGGCTCCACACAGACCCACCCCACGGGACCCGCAC TCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCT CCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGAC C	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01070.hp1 HG01071.hp1 others(11): Show HG00323.hp1 HG01070.hp1 HG01071.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01515.hp2 HG02735.hp1 HG03490.hp1 HG03492.hp2 HG06807.hp2 NA18942.hp2 NA18967.hp2	a0004 a0004	a0004c0005 a0004c0034 a0004c0005 a0004c0034	a0004c0005t0005 a0004c0005t0023 a0004c0034t0005 a0004c0005t0005 a0004c0005t0023 a0004c0034t0005	a0004c0005t0005g0003 a0004c0005t0005g0004 a0004c0005t0005g0005 others(11): Show a0004c0005t0005g0003 a0004c0005t0005g0004 a0004c0005t0005g0005 a0004c0005t0005g0006 a0004c0005t0005g0007 a0004c0005t0005g0009 a0004c0005t0005g0010 a0004c0005t0005g0015 a0004c0005t0005g0016 a0004c0005t0005g0118 a0004c0005t0005g0155 a0004c0005t0023g0008 a0004c0005t0023g0013 a0004c0034t0005g0002	14	301	0.0465	-200	c.247 others(19): Show c.2470-1909_2470-1710del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132793038	AGACCCAC others(193): Show AGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCC CACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCC GCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAG GGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACAC T	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG01106.hp2 others(13): Show HG00438.hp1 HG00642.hp2 HG01106.hp2 HG01884.hp2 HG01981.hp1 HG01993.hp1 HG02056.hp2 HG02080.hp2 HG02293.hp1 HG02523.hp2 HG02683.hp1 HG02698.hp2 HG04115.hp2 HG04204.hp1 NA18951.hp1 NA20129.hp1	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0017	a0001c0003 a0002c0010 a0013c0035 others(1): Show a0001c0003 a0002c0010 a0013c0035 a0017c0025	a0001c0003t0001 a0001c0003t0004 a0001c0003t0011 others(8): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0011 a0001c0003t0039 a0001c0003t0040 a0001c0003t0041 a0001c0003t0045 a0001c0003t0054 a0002c0010t0004 a0013c0035t0004 a0017c0025t0004	a0001c0003t0001g0210 a0001c0003t0001g0214 a0001c0003t0004g0203 others(13): Show a0001c0003t0001g0210 a0001c0003t0001g0214 a0001c0003t0004g0203 a0001c0003t0004g0204 a0001c0003t0004g0209 a0001c0003t0004g0215 a0001c0003t0004g0220 a0001c0003t0011g0222 a0001c0003t0039g0217 a0001c0003t0040g0211 a0001c0003t0041g0226 a0001c0003t0045g0207 a0001c0003t0054g0213 a0002c0010t0004g0202 a0013c0035t0004g0224 a0017c0025t0004g0212	16	306	0.0523	-200	c.247 others(19): Show c.2470-1945_2470-1746del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132793527	GCACGGGA others(193): Show GCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACC CGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGA GGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACA CAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACC A	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02922.hp1 others(3): Show HG01167.hp1 HG01169.hp1 HG02922.hp1 HG03195.hp2 HG03209.hp1 HG03516.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0026 a0001c0001 a0015c0026	a0001c0001t0001 a0001c0001t0010 a0001c0001t0067 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0067 a0015c0026t0061	a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 others(3): Show a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0010g0307 a0001c0001t0067g0100 a0015c0026t0061g0157	6	306	0.0196	-200	c.246 others(19): Show c.2469+2125_2470-2235del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
HACE1_chr6_104723094_104864919	104727523	GTATGTAT others(193): Show GTATGTATATGAATACACACACACGTATGTATATGAATACACACACACGT ATGTATATGAATACACACACACGTATGTATATGAATACACACACACGTAT GTATATGAATACATACACACGTATGTATATGAATACATACACACGTATGT ATATGAATACATACACACATATATATGTATATGAATATATACACACATAT A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01168.hp2 HG01358.hp2 others(6): Show HG01167.hp2 HG01168.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG03490.hp2 HG03492.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 others(6): Show a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0133	9	343	0.0262	-200	c.19 others(11): Show c.1939_*2138del	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding		570		chr6	TogoVar
IQGAP2_chr5_76398285_76713132	76699605	TTCTCTCT others(193): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCACTCTCGTGCTCTCTCTCTCTCCATATATAGTTCATTTGCTTC AGGCTTCTCTCTGTTTCTCTCTCTCTCTCTCTCACTCTCACTCTCGTGCT CTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTTTCTGTTTCT C	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02040.hp2 HG02056.hp1 HG01496.hp1 HG02040.hp2 HG02056.hp1	a0002 a0020 a0002 a0020	a0002c0001 a0020c0034 a0002c0001 a0020c0034	a0002c0001t0002 a0020c0034t0002 a0002c0001t0002 a0020c0034t0002	a0002c0001t0002g0169 a0002c0001t0002g0218 a0020c0034t0002g0186 a0002c0001t0002g0169 a0002c0001t0002g0218 a0020c0034t0002g0186	3	108	0.0278	-200	c.436 others(19): Show c.4368-1430_4368-1231del	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
KIF25_chr6_167992671_168050091	167997263	GGCGGGGG others(193): Show GGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGGTGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGG CGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGG T	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0056 a0001c0003t0004g0056	1	374	0.0027	-200	c.-22 others(11): Show c.-2205_-2006del	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		407		chr6	TogoVar
LATS2_chr13_20968036_21066586	21007536	ATATATAT others(193): Show ATATATATAGTATATATATATATATATATATATATATATATATATATATA TAGTATATATATATATAGTGTGTATATATATATATAGTGTATATATATAT ATATATATAGTGTGTGTATATATATATAGTGTGTATATATATATATAGTA TATATATATATATAGTATGTATATATATATATATATAGTATATATATATA G	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0009 a0009	a0009c0033 a0009c0033	a0009c0033t0001 a0009c0033t0001	a0009c0033t0001g0302 a0009c0033t0001g0302	1	314	0.0032	-200	c.343 others(19): Show c.343-16332_343-16133del	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LRFN5_chr14_41601876_41909549	41808331	AAGGAAGG others(193): Show AAGGAAGGAAGGGAGGGATGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGA AGGAAGGAAGGAAAGGAAGAAAGGAAGAAAGGAAGGAAGGAAGGAAGGAA GAATCGAGGGAGGGAGGGAGGACCTATAAGATTAGTTCTGGAAAAAGTAT ACCCAATTGTGGCCAGACAAGGAAGGAAGGGAGGAAGGAAGGGAGGGATG G	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp2 HG01256.hp1 others(10): Show HG00741.hp2 HG01167.hp2 HG01256.hp1 HG01515.hp2 HG01928.hp1 HG02293.hp1 HG02300.hp2 NA18954.hp1 NA18974.hp2 NA18983.hp1 NA18995.hp2 NA19057.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0018 a0001c0002t0001 a0001c0002t0003 a0001c0002t0018	a0001c0002t0001g0052 a0001c0002t0003g0251 a0001c0002t0003g0252 others(10): Show a0001c0002t0001g0052 a0001c0002t0003g0251 a0001c0002t0003g0252 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0018g0059	13	278	0.0468	-200	c.-21 others(19): Show c.-21+41346_-21+41545del	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRRC27_chr10_132327193_132386508	132358644	GAGCAGTG others(193): Show GAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCG AGGTGGTAGAGCAGTGTGGGGAGGAGCCAAGGTGGTGGAGCAGCGTGGGG AGGAGCCGAGGTGATGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGTG TGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGCCGAGCTGGTGGAG C	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	286	0.0035	-200	c.117 others(19): Show c.1170+2762_1171-2610del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358676	CAGTGTGG others(193): Show CAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGGGGAGGAGCCAAGG TGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGTGTGGGGAGG AGCCGAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAA GGAGCCGAGCTGGTGGAGCAGCGTAGGGAGGAGCCGAGGTGGTGGAGCAG T	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01074.hp2 HG01106.hp1 others(33): Show HG00597.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01346.hp2 HG01433.hp2 HG01928.hp2 HG01943.hp2 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02293.hp2 HG02300.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18940.hp2 NA18951.hp2 NA18962.hp1 NA18969.hp1 NA18971.hp2 NA18983.hp1 NA18988.hp2 NA18990.hp2 NA19004.hp2 NA19054.hp2 NA19060.hp2 NA19066.hp2 NA19067.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0015 a0008c0014 a0001c0001 a0004c0015 a0008c0014	a0001c0001t0001 a0001c0001t0023 a0001c0001t0028 others(7): Show a0001c0001t0001 a0001c0001t0023 a0001c0001t0028 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0004c0015t0015 a0008c0014t0001	a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0035 others(32): Show a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0023g0039 a0001c0001t0028g0052 a0001c0001t0034g0043 a0001c0001t0036g0061 a0001c0001t0038g0077 a0001c0001t0039g0075 a0001c0001t0043g0053 a0004c0015t0015g0063 a0008c0014t0001g0049	36	274	0.1314	-200	c.117 others(19): Show c.1171-2780_1171-2581del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10			chr10	TogoVar
MAEA_chr4_1284891_1345137	1295964	CCCCCCTC others(193): Show CCCCCCTCACCCACGTCTGCACTGCCCTCACCTGTGCTGCCCTCACCTGT GCCCCCCACCTGTGCCTGTGCCCCCCTCACCTGCTCCTCCCTCACCTGCT CCTCCCTCACCTGCTCCTGCACCACCTTCACGTGCGCCCCCCACCTACAT CTGCACCTCACCTATGCTACCCTCACCTGTGCCCCCCCACCCGCACCTGT G	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	386	0.0026	-200	c.69+ others(15): Show c.69+5988_69+6187del	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1296100	CCCCCCAC others(193): Show CCCCCCACCTACATCTGCACCTCACCTATGCTACCCTCACCTGTGCCCCC CCACCCGCACCTGTGCCCCCCTCACCCACGTCTGCACTGCCCTCACCTGT GCTGCCCTCACCTGTGCCCCCCACCTGTGCCTGTGCCCCCCTCACCTGCT CCTCCCTCACCTGCTCCTCCCTCACCTGCTCCTGCACCACCTTCACGTGC G	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	386	0.0026	-200	c.69+ others(15): Show c.69+6124_69+6323del	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19452208	GAGAAGAG others(193): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAGAGA AGAGAAGAGAAGAGAAGAGAGAAAAGAAAAGAGAAAAGAAAAGAAAAGAA A	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03130.hp1 HG02897.hp2 HG03130.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0005 a0003c0004 a0004c0005	a0003c0004t0004 a0004c0005t0010 a0003c0004t0004 a0004c0005t0010	a0003c0004t0004g0003 a0004c0005t0010g0005 a0003c0004t0004g0003 a0004c0005t0010g0005	2	159	0.0126	-200	c.995 others(17): Show c.995+4505_995+4704del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MLPH_chr2_237482251_237560322	237544470	GGGACAGT others(193): Show GGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGA GTGGGGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGA CATTGTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTG GTCAGTGGTGATTGGGCACTGTAGTGAGTGGGGGGACAGTGGTGAGTGGG A	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	282	0.0035	-200	c.153 others(19): Show c.1539+1830_1540-1918del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYOM2_chr8_2040046_2150456	2130121	GTACGCTA others(193): Show GTACGCTATACCCAGGGCGTCCCCACCGCGCCTTTAGTGAACACCCCTCA CTACGCTCTACCCAGGGCGCCCACACCCCGCCTTTAGTTAACGCCCGTCA GTACCGTATACCCAGGGCGCCCACACCCCGCCTTTAGTTAACGCCCGTCA GTACCCTATACCCAGGGCGCCCACACCCCGCCTTTAGTTAACGCCCCTCA C	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp2 HG03139.hp1 others(1): Show HG02615.hp1 HG02630.hp2 HG03139.hp1 HG03471.hp2	a0033 a0036 a0061 others(1): Show a0033 a0036 a0061 a0062	a0033c0180 a0036c0132 a0061c0099 others(1): Show a0033c0180 a0036c0132 a0061c0099 a0062c0119	a0033c0180t0001 a0036c0132t0001 a0061c0099t0001 others(1): Show a0033c0180t0001 a0036c0132t0001 a0061c0099t0001 a0062c0119t0001	a0033c0180t0001g0068 a0036c0132t0001g0074 a0061c0099t0001g0394 others(1): Show a0033c0180t0001g0068 a0036c0132t0001g0074 a0061c0099t0001g0394 a0062c0119t0001g0343	4	402	0.0100	-200	c.380 others(18): Show c.3800+908_3800+1107del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	32/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64175498	GTAGTTGT others(193): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC C	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0019 a0001c0001t0008g0019	1	220	0.0045	-200	c.-99 others(19): Show c.-99+10787_-99+10986del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175874	TCTCCTGT others(193): Show TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCGTCT C	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	130	0.0077	-200	c.-99 others(19): Show c.-99+11142_-99+11341del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57687802	TATAATAT others(193): Show TATAATATGTGTGTACAATATACACATATATATAATATGTGTGTACAATA TACACATATATAATATGTGTGTACAATATACACATATATAATATGTGTGT ACAATATACACATATATAATATGTGTGTACAATATACACATATATAATAT GTGTGTACAATATACACATATATAATGTGTGTACAATATACACATATATA A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02132.hp1 HG02683.hp1 others(2): Show HG02027.hp1 HG02132.hp1 HG02683.hp1 HG02970.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0011 a0001c0001t0001 a0002c0002t0002 a0002c0002t0011	a0001c0001t0001g0162 a0002c0002t0002g0047 a0002c0002t0002g0066 others(2): Show a0001c0001t0001g0162 a0002c0002t0002g0047 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0011g0072	5	345	0.0145	-200	c.33 others(11): Show c.3305_*3504del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2439		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688203	TATATATG others(193): Show TATATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACA TATATTATGTGTGTACAATATACACATATATTATGTGTGTACAATATACA CATATATAATATGTGTGTACAATATACACATATATATAATATGTGTGTAC AATATACACATATATATAATATGTGTGTACAATATACACATATAATATAA A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	348	0.0029	-200	c.37 others(11): Show c.3706_*3905del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2840		chr15	TogoVar
NAALADL2_chr3_174854334_175815548	175698225	ATATGTAT others(193): Show ATATGTATGTATACATATATATGTGTATATATGTATGTATACATATATAT GTGTATATATGTATGTATACATATATATGTGTATATATGTATGTGTATTT ATGTATGTGTATATATGTATGTGTATTTATGTATGTGTATATATGTATGT GTATTTATGTATGTATACATATGTATGTGTATTTATGTATGTATACATAT G	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0024 a0004c0008t0024	a0004c0008t0024g0051 a0004c0008t0024g0051	1	62	0.0161	-200	c.189 others(21): Show c.1897-39075_1897-38876del	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NFATC1_chr18_79390930_79534323	79408992	ATTCCTCC others(193): Show ATTCCTCCATTCCCTATCCATCCGTCCATCCATCATCCATCCATCATCAT CCATCCATTATTCCTCCATTCCCTATCCATTCATTCATCATCCATCCATC CATCATCATCCATCCATCCATCAAACCATTATTCCTCCATTCCCTATCCA TCCATCCGTCATCCATCTATCCATCATCATCCATCCATCATCAAACCATT G	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(160): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03225.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19067.hp1 NA19067.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0011 a0012 a0013	a0001c0001 a0001c0006 a0001c0017 others(17): Show a0001c0001 a0001c0006 a0001c0017 a0001c0027 a0001c0029 a0001c0038 a0001c0040 a0001c0044 a0001c0045 a0001c0046 a0002c0002 a0002c0003 a0002c0026 a0002c0036 a0002c0039 a0002c0057 a0005c0043 a0011c0042 a0012c0041 a0013c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0030 a0001c0001t0035 a0001c0001t0038 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0004 a0001c0006t0009 a0001c0006t0049 a0001c0017t0001 a0001c0017t0003 a0001c0027t0008 a0001c0029t0004 a0001c0038t0002 a0001c0040t0001 a0001c0044t0001 a0001c0045t0001 a0001c0046t0016 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0010 a0002c0002t0013 a0002c0002t0015 a0002c0002t0017 a0002c0002t0031 a0002c0002t0039 a0002c0002t0045 a0002c0002t0058 a0002c0002t0059 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0002c0003t0007 a0002c0003t0010 a0002c0003t0013 a0002c0003t0022 a0002c0003t0023 a0002c0003t0057 a0002c0026t0001 a0002c0026t0005 a0002c0036t0012 a0002c0039t0001 a0002c0057t0002 a0005c0043t0001 a0011c0042t0003 a0012c0041t0006 a0013c0037t0033	a0001c0001t0001g0006 a0001c0001t0001g0195 a0001c0001t0001g0201 others(160): Show a0001c0001t0001g0006 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0002g0015 a0001c0001t0002g0035 a0001c0001t0002g0048 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0088 a0001c0001t0002g0094 a0001c0001t0002g0298 a0001c0001t0003g0143 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0163 a0001c0001t0003g0175 a0001c0001t0003g0181 a0001c0001t0003g0192 a0001c0001t0004g0091 a0001c0001t0006g0005 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0104 a0001c0001t0006g0105 a0001c0001t0006g0106 a0001c0001t0007g0016 a0001c0001t0007g0070 a0001c0001t0009g0171 a0001c0001t0010g0264 a0001c0001t0012g0103 a0001c0001t0012g0190 a0001c0001t0014g0267 a0001c0001t0016g0176 a0001c0001t0016g0186 a0001c0001t0020g0202 a0001c0001t0020g0226 a0001c0001t0021g0204 a0001c0001t0024g0174 a0001c0001t0030g0033 a0001c0001t0030g0034 a0001c0001t0035g0280 a0001c0001t0038g0184 a0001c0006t0001g0246 a0001c0006t0001g0256 a0001c0006t0002g0075 a0001c0006t0002g0097 a0001c0006t0002g0307 a0001c0006t0003g0133 a0001c0006t0003g0156 a0001c0006t0003g0158 a0001c0006t0003g0166 a0001c0006t0003g0170 a0001c0006t0004g0057 a0001c0006t0009g0134 a0001c0006t0049g0049 a0001c0017t0001g0203 a0001c0017t0001g0279 a0001c0017t0003g0135 a0001c0017t0003g0141 a0001c0027t0008g0013 a0001c0027t0008g0030 a0001c0029t0004g0096 a0001c0029t0004g0098 a0001c0038t0002g0089 a0001c0040t0001g0208 a0001c0044t0001g0207 a0001c0045t0001g0214 a0001c0046t0016g0147 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0215 a0002c0002t0001g0217 a0002c0002t0001g0220 a0002c0002t0001g0229 a0002c0002t0001g0234 a0002c0002t0001g0237 a0002c0002t0001g0250 a0002c0002t0001g0263 a0002c0002t0001g0269 a0002c0002t0002g0054 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0086 a0002c0002t0003g0144 a0002c0002t0003g0145 a0002c0002t0003g0153 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0187 a0002c0002t0009g0172 a0002c0002t0010g0225 a0002c0002t0010g0278 a0002c0002t0013g0160 a0002c0002t0013g0191 a0002c0002t0015g0244 a0002c0002t0015g0251 a0002c0002t0015g0265 a0002c0002t0015g0273 a0002c0002t0017g0162 a0002c0002t0017g0167 a0002c0002t0017g0169 a0002c0002t0031g0115 a0002c0002t0039g0122 a0002c0002t0045g0107 a0002c0002t0058g0247 a0002c0002t0059g0069 a0002c0003t0001g0194 a0002c0003t0001g0209 a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0213 a0002c0003t0001g0216 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0233 a0002c0003t0001g0236 a0002c0003t0001g0243 a0002c0003t0001g0254 a0002c0003t0001g0255 a0002c0003t0001g0257 a0002c0003t0001g0260 a0002c0003t0002g0063 a0002c0003t0003g0185 a0002c0003t0004g0193 a0002c0003t0004g0262 a0002c0003t0006g0039 a0002c0003t0007g0036 a0002c0003t0010g0270 a0002c0003t0013g0130 a0002c0003t0013g0168 a0002c0003t0022g0205 a0002c0003t0023g0123 a0002c0003t0023g0124 a0002c0003t0057g0248 a0002c0026t0001g0241 a0002c0026t0005g0065 a0002c0036t0012g0010 a0002c0039t0001g0228 a0002c0057t0002g0068 a0005c0043t0001g0200 a0011c0042t0003g0152 a0012c0041t0006g0102 a0013c0037t0033g0253	163	320	0.5094	-200	c.128 others(17): Show c.128-1388_128-1189del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NLRP4_chr19_55831540_55886855	55849916	CGCGGTGT others(193): Show CGCGGTGTAATTTCCGTAGCCGCGGTGTAATTTCCGAGACTGCGGTGTAA TTTCCGTAGCTGCGGTGTAATTTCCGAGACTGCGGTGTGATTTCCGAGAC TGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTGGAA TTTCCGAGACTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTACCGTAGC T	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0328 a0001c0001t0007g0328	1	405	0.0025	-200	c.-65 others(17): Show c.-65-2083_-65-1884del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850372	AGGCTGCG others(193): Show AGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCG AGGCTGCGGTGTAATTTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCG T	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0394 a0001c0005t0001g0394	1	346	0.0029	-200	c.-65 others(17): Show c.-65-1629_-65-1430del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850492	AGGCTGCG others(193): Show AGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATTTCCG TGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCG T	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18906.hp2 HG02055.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0001 a0002c0003t0012 a0001c0005t0001 a0002c0003t0012	a0001c0005t0001g0395 a0002c0003t0012g0227 a0001c0005t0001g0395 a0002c0003t0012g0227	2	281	0.0071	-200	c.-65 others(17): Show c.-65-1511_-65-1312del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850812	AGGCTGCG others(193): Show AGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATTTACGAGGCTGCGGT GTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCG AGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCG T	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0395 a0001c0005t0001g0395	1	394	0.0025	-200	c.-65 others(16): Show c.-65-1169_-65-970del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PDCD1_chr2_241844884_241863894	241847213	CGCTGCGC others(193): Show CGCTGCGCTGACAATGGATGAATGAGAGCCTTGAGTTCTGGATGCTGGCG CGCCGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGACGCTGGTG CGCAGCGCTGTCAATGGATGAATGAAAGCCTTGAGTTCTGGATGCTGGCG CGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGGCG T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(74): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01169.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01515.hp2 HG01517.hp1 HG01934.hp2 HG01943.hp1 HG02027.hp1 HG02071.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18969.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18978.hp1 NA18981.hp1 NA18987.hp1 NA18992.hp2 NA18999.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19240.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0009 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0017 a0001c0004t0001 a0001c0005t0010 a0001c0006t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(23): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0009g0039 a0001c0001t0009g0106 a0001c0001t0009g0107 a0001c0001t0017g0084 a0001c0004t0001g0048 a0001c0004t0001g0052 a0001c0004t0001g0083 a0001c0004t0001g0086 a0001c0005t0010g0038 a0001c0005t0010g0099 a0001c0005t0010g0100 a0001c0006t0001g0094	77	406	0.1897	-200	c.36 others(11): Show c.3645_*3844del	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		2670		chr2	TogoVar

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