Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
IQCF2_chr3_51856615_51868424	51858999	CGGCCAGC others(120): Show CGGCCAGCTGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(37): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00738.hp1 HG01071.hp1 HG01106.hp1 HG01168.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01952.hp1 HG01981.hp2 HG02109.hp2 HG02486.hp1 HG02559.hp1 HG02698.hp2 HG02735.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03471.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18941.hp2 NA19030.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009	40	426	0.0939	-127	c.-26 others(11): Show c.-2667_-2541del		IQCF2	ENSG00000184345.5	transcript	ENST00000333127.4	protein_coding					2615		chr3	TogoVar
IYD_chr6_150364012_150410969	150372517	GGGGAGTG others(120): Show GGGGAGTGCTGAGGGGTCATGTTGTGTCCATGCTTATTAGACATGTGTGT GTGTGGGCGGTGTGGGGGGTGGTGAGGGAACATTGTGTTGGTCCATGCTT GTTAGACATGTGTGTGTATGGGTGGGGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00741.hp2 others(54): Show HG00323.hp2 HG00558.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01496.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02148.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG03041.hp1 HG03098.hp2 HG03239.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03688.hp1 NA18906.hp2 NA18982.hp1 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18994.hp2 NA19005.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19064.hp2 NA19076.hp2 NA19080.hp1 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 others(20): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0070 a0001c0001t0073 a0001c0001t0074 a0001c0001t0079 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0002c0002t0025 a0002c0002t0041 a0002c0002t0044 a0002c0002t0098 a0006c0006t0055	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 others(41): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0071 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0307 a0001c0001t0010g0016 a0001c0001t0010g0052 a0001c0001t0010g0300 a0001c0001t0014g0299 a0001c0001t0015g0007 a0001c0001t0015g0256 a0001c0001t0015g0281 a0001c0001t0015g0282 a0001c0001t0015g0283 a0001c0001t0030g0298 a0001c0001t0033g0049 a0001c0001t0034g0293 a0001c0001t0037g0053 a0001c0001t0070g0315 a0001c0001t0073g0007 a0001c0001t0074g0030 a0001c0001t0079g0286 a0001c0001t0082g0304 a0001c0001t0083g0006 a0001c0001t0084g0287 a0001c0001t0087g0030 a0001c0001t0088g0297 a0001c0001t0089g0054 a0002c0002t0025g0291 a0002c0002t0041g0290 a0002c0002t0041g0292 a0002c0002t0044g0050 a0002c0002t0098g0278 a0006c0006t0055g0295	57	414	0.1377	-127	c.178 others(17): Show c.178+3312_178+3438del		IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNH1_chr1_210673314_211139148	211111809	GTCTAGGA others(120): Show GTCTAGGAAGTGAGGTGCCCCTCTGCCTGGCCGCTGTACTGTCTGGGAAG TGAGGAGCACCTCTGCTTGGCTGCCCACCATCTGGGAAGTGAGGAGTGCC TCTGCCTGGCTACTGCACCGTCTAGGAA	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	164	0.0061	-127	c.80- others(15): Show c.80-4559_80-4433del		KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	1/10						chr1	TogoVar
KCTD16_chr5_144165873_144490686	144280937	CCCAGCTA others(120): Show CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGACAGGC GGAGGTTGCAGTGAAACCCCGTCTCTACTAAACAAAATACAAAAAATTAG CCGGGCGTAGTGGTGGGAGCCTGTAGTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0087 a0001c0001t0041g0087	1	156	0.0064	-127	c.832 others(19): Show c.832+73412_832+73538del		KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD16_chr5_144165873_144490686	144280958	GGCAGGAG others(120): Show GGCAGGAGAATGGCGTGAACCCGACAGGCGGAGGTTGCAGTGAAACCCCG TCTCTACTAAACAAAATACAAAAAATTAGCCGGGCGTAGTGGTGGGAGCC TGTAGTTCCAGCTACTCGGGAGGCTGAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03139.hp2 HG02451.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0056 a0001c0001t0003g0102 a0001c0001t0002g0056 a0001c0001t0003g0102	2	156	0.0128	-127	c.832 others(19): Show c.832+73433_832+73559del		KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
KIAA1958_chr9_112481827_112674397	112515117	CTTCCGGG others(120): Show CTTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGAAGGTGGGGGG GTCAGCCCCCCACCCGGCCAGCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0131 a0001c0005t0014g0131	1	308	0.0033	-127	c.-25 others(19): Show c.-25+28000_-25+28126del		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3						chr9	TogoVar
KIF3C_chr2_25921598_25987497	25962914	TATATATA others(120): Show TATATATAATATATAATACATATAATATATAATATATAATATATAATATA TATAATATATAATATATAATATATAATATATATAATATATAATATATAAT ATATATAATATATAATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0218 a0001c0002t0001g0218	1	240	0.0042	-127	c.154 others(19): Show c.1546-6597_1546-6471del		KIF3C	ENSG00000084731.15	transcript	ENST00000264712.8	protein_coding	1/7						chr2	TogoVar
KLHL3_chr5_137612500_137741089	137687414	TGGGGGGG others(120): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTATCCAGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCT GGCCAGCCGCCCCGTCCGGGAGGGTGGG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03579.hp2 NA18522.hp2 HG01884.hp1 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0028 a0001c0002t0016 a0001c0002t0028	a0001c0002t0016g0117 a0001c0002t0016g0118 a0001c0002t0028g0124 a0001c0002t0016g0117 a0001c0002t0016g0118 a0001c0002t0028g0124	3	252	0.0119	-127	c.526 others(17): Show c.526+4744_526+4870del		KLHL3	ENSG00000146021.15	transcript	ENST00000309755.9	protein_coding	5/14						chr5	TogoVar
LCN15_chr9_136754634_136769518	136769358	CCCCTCCA others(120): Show CCCCTCCATGCACTGCCCCCCGCCACCACCCCATGCACTGCCCCCCCCGC CACCCCGCCACCCCCCCATGCACTTCCCCCCCGCCACCCCGCCACCCCCC ATGCACTGCCCCCCCCGACACCCCGACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	356	0.0028	-127	c.-49 others(11): Show c.-4997_-4871del		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4841		chr9	TogoVar
LINGO2_chr9_27932617_29218601	29188609	GTGGCCGG others(120): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA AGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCTCGGATGGGGCGGC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01074.hp2 HG01261.hp1 others(8): Show HG00408.hp2 HG01074.hp2 HG01261.hp1 HG02451.hp2 HG02572.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG03130.hp2 NA19043.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0023 a0001c0001t0026 a0001c0001t0036 a0001c0003t0009	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0003g0049 others(8): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0003g0049 a0001c0001t0005g0059 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0012g0005 a0001c0001t0023g0037 a0001c0001t0026g0013 a0001c0001t0036g0062 a0001c0003t0009g0036	11	62	0.1774	-127	c.-49 others(21): Show c.-492+24186_-492+24312del		LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	1/6						chr9	TogoVar
LRFN5_chr14_41601876_41909549	41674114	TGGCAGAG others(120): Show TGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCG	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	280	0.0036	-127	c.-19 others(21): Show c.-197+65600_-197+65726del		LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41674224	GGACGGGG others(120): Show GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGTCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02523.hp2 HG00621.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0269 a0001c0001t0010g0270 a0001c0001t0010g0269 a0001c0001t0010g0270	2	280	0.0071	-127	c.-19 others(21): Show c.-197+65665_-197+65791del		LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
LRRC74A_chr14_76821408_76875304	76821668	CGGCCAGC others(120): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGACGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0361 a0003c0003t0001g0361	1	408	0.0025	-127	c.-50 others(11): Show c.-5029_-4903del		LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding					4739		chr14	TogoVar
LRRC74A_chr14_76821408_76875304	76821889	CGCCCGGC others(120): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGACGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02559.hp2 others(9): Show HG01891.hp1 HG02055.hp1 HG02559.hp2 HG02630.hp2 HG02895.hp2 HG03098.hp2 HG03209.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0005 a0001c0001t0009 a0001c0005t0005 others(2): Show a0001c0001t0005 a0001c0001t0009 a0001c0005t0005 a0002c0002t0005 a0002c0002t0007	a0001c0001t0005g0019 a0001c0001t0005g0026 a0001c0001t0005g0027 others(9): Show a0001c0001t0005g0019 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0009g0022 a0001c0005t0005g0020 a0001c0005t0005g0029 a0001c0005t0005g0030 a0002c0002t0005g0023 a0002c0002t0005g0024 a0002c0002t0005g0025 a0002c0002t0007g0021	12	408	0.0294	-127	c.-48 others(11): Show c.-4808_-4682del		LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding					4518		chr14	TogoVar
MAP4K4_chr2_101692707_101899690	101785667	TTTCTTTC others(120): Show TTTCTTTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02165.hp1 HG03209.hp2 others(3): Show HG02074.hp2 HG02165.hp1 HG03209.hp2 HG04228.hp1 NA19065.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0016 a0001c0002t0019 others(3): Show a0001c0001t0004 a0001c0001t0016 a0001c0002t0019 a0001c0002t0023 a0001c0002t0027 a0001c0002t0049	a0001c0001t0004g0161 a0001c0001t0016g0166 a0001c0002t0019g0232 others(3): Show a0001c0001t0004g0161 a0001c0001t0016g0166 a0001c0002t0019g0232 a0001c0002t0023g0230 a0001c0002t0027g0281 a0001c0002t0049g0273	6	310	0.0194	-127	c.124 others(17): Show c.124-5044_124-4918del		MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAPK11_chr22_50258713_50275380	50274740	TCCCAGCC others(120): Show TCCCAGCCCCCTCCACTTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCT CCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAGTACCCCTCCCA GCCCCTTCCACCTCCCCCAGCACCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	428	0.0023	-127	c.-45 others(11): Show c.-4575_-4449del		MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding					4361		chr22	TogoVar
MBP_chr18_76973833_77137783	77028626	CCCCCCCA others(120): Show CCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCTGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCTGAT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02083.hp1 NA18975.hp1 others(3): Show HG02056.hp2 HG02083.hp1 NA18975.hp1 NA19007.hp1 NA19056.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001	a0001c0001t0003g0025 a0001c0001t0003g0070 a0001c0001t0008g0371 others(3): Show a0001c0001t0003g0025 a0001c0001t0003g0070 a0001c0001t0008g0371 a0001c0001t0008g0384 a0001c0002t0001g0071 a0001c0002t0001g0100	6	396	0.0152	-127	c.140 others(19): Show c.140-11485_140-11359del		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8						chr18	TogoVar
METTL16_chr17_2411049_2516888	2447577	GGGGGGGG others(120): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0020 a0001c0001t0024g0020	1	298	0.0034	-127	c.729 others(17): Show c.729-6145_729-6019del		METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	6/9						chr17	TogoVar
MIGA1_chr1_77774649_77884540	77869989	TGGGGCGA others(120): Show TGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGAC	T T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	280	0.0036	-127	c.146 others(19): Show c.1468-2955_1468-2829del		MIGA1	ENSG00000180488.17	transcript	ENST00000370791.9	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
MLPH_chr2_237482251_237560322	237544515	GGTGAGTG others(120): Show GGTGAGTGGGGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGG GGGGACATTGTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGG TGGTGGTCAGTGGTGATTGGGCACTGTA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA20300.hp2 NA20905.hp2 NA18747.hp2 NA20300.hp2 NA20905.hp2	a0002 a0010 a0011 a0002 a0010 a0011	a0002c0008 a0010c0012 a0011c0016 a0002c0008 a0010c0012 a0011c0016	a0002c0008t0001 a0010c0012t0003 a0011c0016t0002 a0002c0008t0001 a0010c0012t0003 a0011c0016t0002	a0002c0008t0001g0090 a0010c0012t0003g0282 a0011c0016t0002g0047 a0002c0008t0001g0090 a0010c0012t0003g0282 a0011c0016t0002g0047	3	286	0.0105	-127	c.153 others(19): Show c.1539+1869_1540-1952del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MPI_chr15_74885042_74907219	74888341	CGGGCAGA others(120): Show CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCT ACCTCCCTCCCGGACGGGGCAGCTGGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	422	0.0024	-127	c.-17 others(11): Show c.-1732_-1606del		MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding					1700		chr15	TogoVar
MRTFA_chr22_40405289_40641719	40501226	GGGGCGGC others(120): Show GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCCAGCGGAGG GCTGACCCCCCCACCTCCCTCCCGGACA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0073 a0001c0002t0004g0073	1	256	0.0039	-127	c.242 others(19): Show c.242-38067_242-37941del		MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14					WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSH2_chr2_47398156_47488223	47433224	GGGCAGAG others(120): Show GGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTGCCTCCAGGACGGGGCGGCTGGCCGGGCAGAGCG GCTCCTCACTTCCCAGTAGGGGCGGCCA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp2 HG03225.hp2 others(1): Show HG02257.hp2 HG02615.hp2 HG03225.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010	4	370	0.0108	-127	c.127 others(19): Show c.1276+3310_1276+3436del		MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH2_chr2_47398156_47488223	47433409	TCTTCCCA others(120): Show TCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACATCCTTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGTCTCCTCA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	370	0.0027	-127	c.127 others(19): Show c.1276+3515_1276+3641del		MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MTOR_chr1_11101535_11267551	11250029	TGGCTGGC others(120): Show TGGCTGGCCGGGCGGGGGGCTGACCCCCACACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACAGGGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00438.hp2 others(13): Show HG00140.hp1 HG00280.hp2 HG00438.hp2 HG01175.hp1 HG02004.hp1 HG02135.hp1 HG02735.hp2 HG02738.hp1 HG03688.hp2 HG03704.hp2 NA18939.hp1 NA18943.hp2 NA18950.hp1 NA18972.hp2 NA18984.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0003 a0001c0015t0003 a0001c0003t0003 a0001c0015t0003	a0001c0003t0003g0089 a0001c0003t0003g0091 a0001c0003t0003g0093 others(13): Show a0001c0003t0003g0089 a0001c0003t0003g0091 a0001c0003t0003g0093 a0001c0003t0003g0094 a0001c0003t0003g0095 a0001c0003t0003g0096 a0001c0003t0003g0097 a0001c0003t0003g0098 a0001c0003t0003g0099 a0001c0003t0003g0100 a0001c0003t0003g0101 a0001c0003t0003g0107 a0001c0003t0003g0108 a0001c0003t0003g0124 a0001c0003t0003g0126 a0001c0015t0003g0088	16	256	0.0625	-127	c.841 others(17): Show c.841-2062_841-1936del		MTOR	ENSG00000198793.14	transcript	ENST00000361445.9	protein_coding	6/57						chr1	TogoVar
MYDGF_chr19_4652545_4675342	4663564	ACCCTCAT others(120): Show ACCCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCT CATTCTACAGCCTCCAATCTACCCTCCCCACCTCATCCTCATTCTACAGC CTCCAGTATACCCTCCCCACCCACCCTG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0097 a0002c0002t0002g0097	1	410	0.0024	-127	c.287 others(17): Show c.287+1185_287+1311del		MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5						chr19	TogoVar
MYOM2_chr8_2040046_2150456	2085544	CCCACTGT others(120): Show CCCACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGC CCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTG GCCCCCCACTGTCGTGATCTCTGCGTGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp1 others(35): Show HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00673.hp1 HG00673.hp2 HG01255.hp1 HG01361.hp2 HG02004.hp1 HG02040.hp1 HG02135.hp1 HG02145.hp1 HG02486.hp2 HG02602.hp1 HG02895.hp2 HG02897.hp2 HG03927.hp2 NA18747.hp1 NA18942.hp2 NA18951.hp1 NA18953.hp2 NA18964.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA19000.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19068.hp2 NA19077.hp1 NA19080.hp2 NA19087.hp1 NA19088.hp1	a0002 a0003 a0004 others(12): Show a0002 a0003 a0004 a0008 a0009 a0011 a0020 a0035 a0041 a0042 a0059 a0076 a0079 a0088 a0090	a0002c0048 a0003c0001 a0003c0004 others(18): Show a0002c0048 a0003c0001 a0003c0004 a0003c0069 a0003c0157 a0003c0164 a0004c0007 a0008c0008 a0009c0012 a0009c0160 a0011c0011 a0020c0058 a0020c0211 a0035c0036 a0041c0212 a0042c0166 a0059c0148 a0076c0190 a0079c0186 a0088c0192 a0090c0163	a0002c0048t0003 a0003c0001t0001 a0003c0001t0002 others(21): Show a0002c0048t0003 a0003c0001t0001 a0003c0001t0002 a0003c0001t0003 a0003c0004t0001 a0003c0004t0002 a0003c0069t0001 a0003c0157t0001 a0003c0164t0001 a0004c0007t0001 a0008c0008t0001 a0009c0012t0002 a0009c0160t0001 a0011c0011t0001 a0020c0058t0002 a0020c0211t0002 a0035c0036t0001 a0041c0212t0001 a0042c0166t0001 a0059c0148t0002 a0076c0190t0001 a0079c0186t0001 a0088c0192t0002 a0090c0163t0001	a0002c0048t0003g0199 a0003c0001t0001g0225 a0003c0001t0001g0266 others(35): Show a0002c0048t0003g0199 a0003c0001t0001g0225 a0003c0001t0001g0266 a0003c0001t0001g0307 a0003c0001t0001g0334 a0003c0001t0001g0338 a0003c0001t0001g0351 a0003c0001t0002g0377 a0003c0001t0003g0340 a0003c0004t0001g0129 a0003c0004t0001g0130 a0003c0004t0001g0323 a0003c0004t0002g0040 a0003c0004t0002g0217 a0003c0069t0001g0241 a0003c0157t0001g0219 a0003c0164t0001g0101 a0004c0007t0001g0043 a0004c0007t0001g0099 a0004c0007t0001g0284 a0004c0007t0001g0289 a0008c0008t0001g0104 a0008c0008t0001g0107 a0009c0012t0002g0113 a0009c0160t0001g0352 a0011c0011t0001g0224 a0011c0011t0001g0248 a0020c0058t0002g0185 a0020c0211t0002g0087 a0035c0036t0001g0133 a0035c0036t0001g0342 a0041c0212t0001g0008 a0042c0166t0001g0222 a0059c0148t0002g0035 a0076c0190t0001g0207 a0079c0186t0001g0057 a0088c0192t0002g0148 a0090c0163t0001g0390	38	403	0.0943	-127	c.164 others(17): Show c.1644+157_1644+283del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086189	ATGATCTC others(120): Show ATGATCTCTGCGTGGCCCCACTGTCATGATCTCTTTGTGGCCCCCCACTG TTGTGATCTTTGCGTGGCCCCACTGTCATGATCTCTGGCACCCCACTGTC GTGATCTCCGCGTGGCCCCCCACAGTCG	A A	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0217 a0003c0004t0002g0217	1	403	0.0025	-127	c.164 others(17): Show c.1644+818_1644+944del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
NBPF9_chr1_149047186_149108551	149102147	TGGAAATC others(120): Show TGGAAATCCTGGGCTCAAGTGATCCGCCCACCTTGGCGTCCCAAAGTGCT GGGATTACAGGTGTGATCTACCGCGCCCGGACCACCTGCACATTTAAAAT TGTGAACCTCTCTGTATACTTCAGTAAC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0243 a0003c0003t0002g0243	1	344	0.0029	-127	c.-72 others(17): Show c.-724+455_-724+581del		NBPF9	ENSG00000269713.9	transcript	ENST00000698832.1	protein_coding	2/29						chr1	TogoVar
NDST3_chr4_118029486_118263634	118066511	TATACATT others(120): Show TATACATTATATATGTTATATATTATATATACATTATATATAATATGTTA TATATTATATATACATTATATATAACATGTTATATATTATATATACATTA TATATAACATGTTATATATTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0106 a0001c0005t0004g0106	1	216	0.0046	-127	c.981 others(19): Show c.981+11623_981+11749del		NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
NDUFAF1_chr15_41382353_41407496	41382942	AGCCGCCC others(120): Show AGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCAGCCAGCCGCCCCG TCTGGGAGGTGAGGGGCGCCTCTGCCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0233 a0001c0002t0001g0234	2	354	0.0057	-127	c.43 others(11): Show c.4375_*4501del		NDUFAF1	ENSG00000137806.10	transcript	ENST00000260361.9	protein_coding					4410		chr15	TogoVar
NDUFAF1_chr15_41382353_41407496	41383198	CCGCCCGG others(120): Show CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCC CTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC TGCCCCTACTGGGAAGTGAGGAGCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0287 a0001c0001t0002g0287	1	354	0.0028	-127	c.41 others(11): Show c.4119_*4245del		NDUFAF1	ENSG00000137806.10	transcript	ENST00000260361.9	protein_coding					4154		chr15	TogoVar
NDUFAF1_chr15_41382353_41407496	41383249	TGCCCGGC others(120): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCT GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGTGTCAGCCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02258.hp2 HG02922.hp2 others(1): Show HG00642.hp2 HG02258.hp2 HG02922.hp2 HG03195.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0154 a0004c0005t0001g0156 a0004c0005t0001g0157 others(1): Show a0004c0005t0001g0154 a0004c0005t0001g0156 a0004c0005t0001g0157 a0004c0005t0001g0171	4	354	0.0113	-127	c.40 others(11): Show c.4068_*4194del		NDUFAF1	ENSG00000137806.10	transcript	ENST00000260361.9	protein_coding					4103		chr15	TogoVar
NEIL2_chr8_11764710_11792345	11782763	ACTACGTT others(120): Show ACTACGTTGTGGTAACGATGTGGGGATGTGTGTATGTGTGTATGATCCAG CCACAGAGTGTGCTTGGACTATATTGTAACGATGTGGGGATGTGTGTATG TGTGTATGATCCAGCCACAGAGTGTGCT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00621.hp2 others(62): Show HG00438.hp2 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02074.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02523.hp1 HG02630.hp2 HG02886.hp1 HG02965.hp1 HG03098.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18951.hp2 NA18954.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18995.hp1 NA18997.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19091.hp1 NA21309.hp2	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0009	a0002c0003 a0003c0004 a0006c0008 others(1): Show a0002c0003 a0003c0004 a0006c0008 a0009c0021	a0002c0003t0003 a0002c0003t0008 a0002c0003t0020 others(10): Show a0002c0003t0003 a0002c0003t0008 a0002c0003t0020 a0002c0003t0035 a0002c0003t0050 a0003c0004t0003 a0003c0004t0004 a0003c0004t0018 a0003c0004t0020 a0003c0004t0023 a0006c0008t0003 a0006c0008t0020 a0009c0021t0018	a0002c0003t0003g0006 a0002c0003t0003g0007 a0002c0003t0003g0044 others(34): Show a0002c0003t0003g0006 a0002c0003t0003g0007 a0002c0003t0003g0044 a0002c0003t0003g0095 a0002c0003t0003g0097 a0002c0003t0003g0100 a0002c0003t0003g0102 a0002c0003t0003g0104 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0003t0008g0014 a0002c0003t0008g0049 a0002c0003t0008g0050 a0002c0003t0008g0051 a0002c0003t0008g0117 a0002c0003t0008g0131 a0002c0003t0020g0007 a0002c0003t0020g0044 a0002c0003t0035g0098 a0002c0003t0050g0014 a0003c0004t0003g0029 a0003c0004t0003g0045 a0003c0004t0003g0096 a0003c0004t0003g0101 a0003c0004t0003g0103 a0003c0004t0003g0106 a0003c0004t0003g0196 a0003c0004t0004g0195 a0003c0004t0018g0030 a0003c0004t0018g0107 a0003c0004t0020g0043 a0003c0004t0023g0029 a0003c0004t0023g0043 a0003c0004t0023g0099 a0006c0008t0003g0028 a0006c0008t0020g0028 a0009c0021t0018g0030	65	446	0.1457	-127	c.492 others(15): Show c.492-436_492-310del		NEIL2	ENSG00000154328.16	transcript	ENST00000284503.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAIN1_chr1_31174745_31244887	31176905	GGGAGGTG others(120): Show GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(127): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03239.hp1 HG03579.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18945.hp1 NA18947.hp2 NA18952.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18972.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19070.hp2 NA19076.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19088.hp2 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0002c0003t0010 a0003c0004t0013	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 others(127): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0001g0311 a0001c0001t0001g0328 a0001c0001t0003g0063 a0001c0001t0003g0091 a0001c0001t0003g0126 a0001c0001t0003g0247 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0276 a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0006g0236 a0001c0001t0006g0239 a0001c0001t0011g0002 a0001c0001t0012g0242 a0001c0001t0017g0338 a0002c0003t0010g0001 a0003c0004t0013g0205	130	338	0.3846	-127	c.46 others(11): Show c.4671_*4797del		NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding					2839		chr1	TogoVar
NOC4L_chr12_132139457_132157468	132149888	CCACACCC others(120): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02056.hp2 HG02273.hp1 HG01943.hp2 HG02056.hp2 HG02273.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0204 a0001c0001t0001g0267 a0002c0002t0001g0092 a0001c0001t0001g0204 a0001c0001t0001g0267 a0002c0002t0001g0092	3	294	0.0102	-127	c.901 others(16): Show c.901+1035_902-925del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NPHP1_chr2_110118348_110210013	110207703	AGCTGAGA others(120): Show AGCTGAGATCACACCAGTGCACTCCAGCCTGGGCAACAGAGTGAGACTGT GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAA AAGAAAAGAAAAGAAAACAATCCACCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	322	0.0031	-127	c.-28 others(11): Show c.-2862_-2736del		NPHP1	ENSG00000144061.14	transcript	ENST00000445609.7	protein_coding					2691		chr2	TogoVar
NPIPB11_chr16_29376310_29411711	29383416	GCCCCCGC others(120): Show GCCCCCGCAGATGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGT GGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAG ATTATCATCGGCTGAGGGTGGAAGCGGC	G G	frameshift_variant frameshift_variant	HIGH	HG02027.hp2 HG02074.hp1 HG03831.hp2 others(1): Show HG02027.hp2 HG02074.hp1 HG03831.hp2 NA19066.hp1	a0020 a0020	a0020c0017 a0020c0017	a0020c0017t0001 a0020c0017t0001	a0020c0017t0001g0078 a0020c0017t0001g0079 a0020c0017t0001g0081 others(1): Show a0020c0017t0001g0078 a0020c0017t0001g0079 a0020c0017t0001g0081 a0020c0017t0001g0210	4	428	0.0094	-127	c.138 others(9): Show c.1389_1515del	p.Pro others(5): Show p.Pro464fs	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4262/6369	1389/3486	463/1161			chr16	TogoVar
NPR3_chr5_32706321_32796720	32719723	ATGCTAGA others(120): Show ATGCTAGACCTCTTGGATTGATCTTCTACTTTTCTTACCTTCTATTTACC ACCTATGTTGTTGTTGTTTTTTTTTTTTTGTAATTCATCTTGTTTGGATA TTTCCTTGGCCACTTTTAAAGTTACTGT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0048 a0001c0001t0025g0048	1	320	0.0031	-127	c.770 others(17): Show c.770-4972_770-4846del		NPR3	ENSG00000113389.16	transcript	ENST00000265074.13	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
NT5C2_chr10_103083038_103198272	103129737	CGTCCGGG others(120): Show CGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19009.hp1 HG02922.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0123 a0001c0001t0007g0162 a0001c0001t0001g0123 a0001c0001t0007g0162	2	340	0.0059	-127	c.175 others(17): Show c.175+9542_175+9668del		NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	4/18						chr10	TogoVar
NTM_chr11_131365615_132341822	131598768	TTCTTTCT others(120): Show TTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTCTTT CTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTT CCTTCCTTCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	86	0.0116	-127	c.82+ others(19): Show c.82+227881_82+228007del		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8						chr11	TogoVar
NUSAP1_chr15_41327881_41386046	41382942	AGCCGCCC others(120): Show AGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCAGCCAGCCGCCCCG TCTGGGAGGTGAGGGGCGCCTCTGCCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0245 a0002c0002t0001g0266 a0002c0002t0001g0245 a0002c0002t0001g0266	2	292	0.0069	-127	c.27 others(11): Show c.2757_*2883del		NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding					1897		chr15	TogoVar
NUSAP1_chr15_41327881_41386046	41383249	TGCCCGGC others(120): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCT GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGTGTCAGCCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG02258.hp2 HG02922.hp1 others(1): Show HG00642.hp1 HG02258.hp2 HG02922.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0204 a0002c0002t0002g0210 a0002c0002t0002g0211 others(1): Show a0002c0002t0002g0204 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212	4	292	0.0137	-127	c.30 others(11): Show c.3064_*3190del		NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding					2204		chr15	TogoVar
P2RY8_chrX_1457581_1542185	1489788	TGAATGAA others(120): Show TGAATGAATGATACCCAGATATTCCCTGCAAATGTGGGGGGAATGAATGA ATGACATCCAGGGATTCTCCACAAATGTGGAGGGAATGAATGAATGATAC CCCAGATTCACTTCTGCAAATGTAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	114	0.0088	-127	c.-24 others(19): Show c.-24-23333_-24-23207del		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1						chrX	TogoVar
PAIP1_chr5_43521267_43562077	43522345	ACCCGGCC others(120): Show ACCCGGCCAGCCGCCCCGCCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0014 a0001c0001t0008g0014	1	350	0.0029	-127	c.49 others(11): Show c.4904_*5030del		PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding					3921		chr5	TogoVar
PAQR5_chr15_69293912_69412780	69300575	TTCTTTCT others(120): Show TTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCATTCTTTC TCTTCCTTCCTCCCTCCCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG01891.hp2 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0021 a0002c0002t0002 a0001c0001t0021 a0002c0002t0002	a0001c0001t0021g0246 a0002c0002t0002g0247 a0001c0001t0021g0246 a0002c0002t0002g0247	2	284	0.0070	-127	c.-27 others(19): Show c.-277+1534_-277+1660del		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311836	CCCCTCAC others(120): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CACCCTCACAGCCCACCCCATCGTCACA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01358.hp2 others(3): Show HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01496.hp1 HG02622.hp2 HG03130.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0017 a0010c0040	a0001c0001t0011 a0001c0002t0003 a0001c0003t0005 others(2): Show a0001c0001t0011 a0001c0002t0003 a0001c0003t0005 a0002c0017t0003 a0010c0040t0003	a0001c0001t0011g0294 a0001c0002t0003g0272 a0001c0003t0005g0143 others(3): Show a0001c0001t0011g0294 a0001c0002t0003g0272 a0001c0003t0005g0143 a0001c0003t0005g0144 a0002c0017t0003g0024 a0010c0040t0003g0101	6	336	0.0179	-127	c.269 others(19): Show c.2699+1413_2699+1539del		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21						chr15	TogoVar
PHKA1_chrX_72573814_72719306	72681685	CCCACCTG others(120): Show CCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCT CCGCCCGGCCAGCCGCCCCATCTGGGAGGTGAGGGGCGCCTCTGCCCAGC CGCCCCTACTGGGAAGTGAGGAGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02886.hp2 NA18906.hp1 HG01109.hp1 HG02886.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0112 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0112	3	237	0.0127	-127	c.537 others(17): Show c.537+2686_537+2812del		PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31						chrX	TogoVar
PIGU_chr20_34555542_34682092	34659268	CGCCCGGC others(120): Show CGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02129.hp1 HG02258.hp2 others(11): Show HG02055.hp1 HG02129.hp1 HG02258.hp2 HG02615.hp1 HG02622.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0258 others(11): Show a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0312	14	320	0.0438	-127	c.131 others(17): Show c.131-2151_131-2025del		PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	1/11						chr20	TogoVar
PIGU_chr20_34555542_34682092	34659317	CGCCCGGC others(120): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCGGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	320	0.0031	-127	c.131 others(17): Show c.131-2200_131-2074del		PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	1/11						chr20	TogoVar

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