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
KCNG2_chr18_79792938_79905100	79807825	TCTGAGGA others(113): Show TCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCA GAGTCCGCGCTCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGT TATGGGCCCAGAGTCCTCGCC	T T	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0239 a0002c0002t0002g0239	1	312	0.0032	-120	c.-11 others(20): Show c.-115+9913_-115+10032del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79807930	GCCCAGAG others(113): Show GCCCAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTC CACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCGCGCT GACCACACTCCACGTTACGGT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0175 a0001c0005t0001g0175	1	312	0.0032	-120	c.-11 others(21): Show c.-115+10009_-115+10128del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808131	GAGCTGCC others(113): Show GAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCC TCGCCCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGG CCCAGAGTCCGCGCTCTGAGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02630.hp2 others(2): Show HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0228 a0001c0001t0001g0232 others(2): Show a0001c0001t0001g0143 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234	5	312	0.0160	-120	c.-11 others(21): Show c.-115+10167_-115+10286del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808327	GCTGACCA others(113): Show GCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGAAGCTG CCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGACACA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	312	0.0032	-120	c.-11 others(21): Show c.-115+10357_-115+10476del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808687	ACTGACCA others(113): Show ACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTG CCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02738.hp2 HG03491.hp2 others(3): Show HG00642.hp2 HG02738.hp2 HG03491.hp2 HG03704.hp1 HG04204.hp1 NA18984.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 a0002c0002t0001 a0002c0004t0001	a0001c0001t0001g0166 a0001c0003t0001g0134 a0001c0009t0001g0163 others(3): Show a0001c0001t0001g0166 a0001c0003t0001g0134 a0001c0009t0001g0163 a0002c0002t0001g0137 a0002c0004t0001g0090 a0002c0004t0001g0158	6	312	0.0192	-120	c.-11 others(21): Show c.-115+10777_-115+10896del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808807	GCTGACCA others(113): Show GCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTG CCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGAAGCTGCCAGGGACACA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp2 HG02965.hp1 others(2): Show HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0074 a0001c0001t0001g0216 a0001c0001t0001g0224 others(2): Show a0001c0001t0001g0074 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0308 a0001c0005t0001g0175	5	312	0.0160	-120	c.-11 others(21): Show c.-115+10849_-115+10968del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808927	ACTGACCA others(113): Show ACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTG CCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0005 a0006c0014t0002g0005	1	312	0.0032	-120	c.-11 others(21): Show c.-115+11031_-115+11150del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79809167	GCTGACCA others(113): Show GCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTG CCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGACACA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp2 HG02965.hp2 HG02630.hp1 HG02886.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0218 a0001c0005t0001g0217 a0001c0005t0001g0231 a0001c0001t0001g0218 a0001c0005t0001g0217 a0001c0005t0001g0231	3	312	0.0096	-120	c.-11 others(21): Show c.-115+11209_-115+11328del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79809310	GCCCAGAG others(113): Show GCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTC CACGTTATGGGCCCAGAGTCCTCGCTCTGAGGAGCTGCCGGGGACACACT GACCACACTCCACGTTACGGT	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	312	0.0032	-120	c.-11 others(21): Show c.-115+11307_-115+11426del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79809467	GCTGACCA others(113): Show GCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTG CCGGGGCCGCGCTGACCACACTCCACGTTACCGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGCCTCA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03516.hp1 HG02922.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0216 a0001c0001t0001g0224	2	312	0.0064	-120	c.-11 others(21): Show c.-115+11473_-115+11592del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNMB2_chr3_178531436_178849429	178759904	ATCTATAT others(113): Show ATCTATATATATATATATCCAAGAGGATATATCTATATATATATATATCC AAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATAT ATATATCCAAGAGGATATATC	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	232	0.0043	-120	c.-67 others(19): Show c.-67-47437_-67-47318del		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759940	ATATATAT others(113): Show ATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGG ATATATATATATATATATATCCAAGAGGATATATCTATATATATATATAT ATATATCCAAGAGGATATATC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	232	0.0043	-120	c.-67 others(19): Show c.-67-47391_-67-47272del		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KIAA0232_chr4_6777727_6889164	6879892	CTCACCAT others(113): Show CTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACCCGTC TGCAGTGCCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCA ACACACAGGTCTGTAGTGTCG	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0143 a0001c0001t0036g0143	1	362	0.0028	-120	c.400 others(17): Show c.4009-894_4009-775del		KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9						chr4	TogoVar
KIF4A_chrX_70285104_70425886	70373517	TGTGTATG others(113): Show TGTGTATGTATATATATATATATATATATATATATATATACGTATATATA TACATATATACGTGTATATATATACGTATATATATACATATATACGTGTA TATATATACGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01256.hp1 others(5): Show HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01257.hp2 HG01496.hp2 HG01943.hp1 HG01981.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0174 a0001c0001t0001g0190 a0001c0001t0001g0191 others(5): Show a0001c0001t0001g0174 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0004g0189	8	259	0.0309	-120	c.167 others(17): Show c.1675-633_1675-514del		KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30						chrX	TogoVar
KIF4A_chrX_70285104_70425886	70373528	ATATATAT others(113): Show ATATATATATATATATATATATATATATACGTATATATATACATATATAC GTGTATATATATACGTATATATATACATATATACGTGTATATATATACGT ATATATATACATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp1 HG02559.hp1 HG02717.hp1	a0001 a0001	a0001c0006 a0001c0010 a0001c0006 a0001c0010	a0001c0006t0001 a0001c0010t0001 a0001c0006t0001 a0001c0010t0001	a0001c0006t0001g0015 a0001c0010t0001g0013 a0001c0006t0001g0015 a0001c0010t0001g0013	2	259	0.0077	-120	c.167 others(17): Show c.1675-612_1675-493del		KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30					INFO_REALIGN_3_PRIME	chrX	TogoVar
KLHDC4_chr16_87702812_87770986	87726561	GCCGCGCC others(113): Show GCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACGC CGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACGCCG CGCCTCGCCCGTCTCCCCACC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0001 a0008c0018t0001	a0008c0018t0001g0378 a0008c0018t0001g0378	1	380	0.0026	-120	c.759 others(14): Show c.759+84_759+203del		KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11						chr16	TogoVar
KLHDC7B_chr22_50540899_50556023	50547927	GCCCTAAC others(113): Show GCCCTAACCCCAGCCGCATCCCCAGCCCTAACCCCAGTCCCAACCCCAGC CCTAAGCCCAGCTCCAACTCCAGCCCCAACCCCAGCCGCATCCCCTGCCC CAGCCCCCACCTCAGCCCCAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01192.hp2 HG02015.hp2 HG02074.hp1 HG01192.hp2 HG02015.hp2 HG02074.hp1	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0002 a0015c0020t0002	a0015c0020t0002g0000 a0015c0020t0002g0000	3	432	0.0069	-120	c.168 others(9): Show c.1688_1807del	p.Leu others(13): Show p.Leu563_Thr602del	KLHDC7B	ENSG00000130487.9	transcript	ENST00000648057.3	protein_coding	1/1	2033/5125	1688/3708	563/1235		INFO_REALIGN_3_PRIME	chr22	TogoVar
KNDC1_chr10_133155219_133231412	133175870	GTGGATGG others(113): Show GTGGATGGATGGGTGGGTGAATGGATGGGTGGATGGATGGATGGATGGGT GGGTGAATGCATGGATGGATGGGTGGGTGAATGGATGGGTGGATGGATGG ATGGATGGGTGGGTGAATGCA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0078 a0001c0078	a0001c0078t0002 a0001c0078t0002	a0001c0078t0002g0114 a0001c0078t0002g0114	1	332	0.0030	-120	c.361 others(17): Show c.361-7427_361-7308del		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133223066	TGTGTGTG others(113): Show TGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTG AGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCA TCCAGGCATGCTCTTCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02965.hp2 others(6): Show HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03209.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA19043.hp2	a0006 a0007 a0006 a0007	a0006c0009 a0006c0019 a0007c0008 a0006c0009 a0006c0019 a0007c0008	a0006c0009t0001 a0006c0009t0026 a0006c0019t0005 others(1): Show a0006c0009t0001 a0006c0009t0026 a0006c0019t0005 a0007c0008t0001	a0006c0009t0001g0019 a0006c0009t0001g0020 a0006c0009t0001g0021 others(6): Show a0006c0009t0001g0019 a0006c0009t0001g0020 a0006c0009t0001g0021 a0006c0009t0001g0048 a0006c0009t0001g0240 a0006c0009t0026g0017 a0006c0019t0005g0277 a0006c0019t0005g0278 a0007c0008t0001g0104	9	332	0.0271	-120	c.501 others(19): Show c.5019-1585_5019-1466del		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KRTAP21-2_chr21_30741794_30752259	30743479	AATATATA others(113): Show AATATATATATATGAATATATATACGAATATATATACGAATATATATACG AATATATATACGTATATATATACGTATATATACACGAATATATATACGTA TATATACGAATATATACGTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	380	0.0026	-120	c.33 others(11): Show c.3352_*3471del		KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding					3314		chr21	TogoVar
KRTAP4-12_chr17_41118091_41129182	41123862	TCTGCAGC others(113): Show TCTGCAGCAGCTGGACACACAGCAGCTGGGGCGGCAGCAGGTGGTCCTAC AGCAGGTGGTCTGACAGCAGCTGGGGCGGCAGCAGGTGGGCTGACAGCAC ACAGACTGGCAGCACTGGGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG00423.hp1 HG00597.hp1 others(63): Show HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG02004.hp2 HG02055.hp2 HG02074.hp2 HG02132.hp1 HG02135.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03540.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18966.hp1 NA18967.hp2 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18998.hp2 NA19000.hp2 NA19005.hp2 NA19006.hp1 NA19056.hp2 NA19062.hp2 NA19064.hp1 NA19070.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0002c0005 a0002c0007 others(3): Show a0002c0002 a0002c0005 a0002c0007 a0002c0011 a0005c0006 a0006c0010	a0002c0002t0002 a0002c0005t0001 a0002c0007t0001 others(3): Show a0002c0002t0002 a0002c0005t0001 a0002c0007t0001 a0002c0011t0001 a0005c0006t0002 a0006c0010t0001	a0002c0002t0002g0000 a0002c0005t0001g0000 a0002c0007t0001g0000 others(3): Show a0002c0002t0002g0000 a0002c0005t0001g0000 a0002c0007t0001g0000 a0002c0011t0001g0000 a0005c0006t0002g0000 a0006c0010t0001g0000	66	423	0.1560	-120	c.141 others(7): Show c.141_260del	p.Pro others(11): Show p.Pro48_Arg87del	KRTAP4-12	ENSG00000213416.4	transcript	ENST00000394014.2	protein_coding	1/1	320/1092	141/606	47/201			chr17	TogoVar
KRTAP4-16_chr17_41096502_41107209	41105490	CTGCAGGA others(113): Show CTGCAGGACCACCTGCTGCCGCCCCAGCTGTTGTGTATCCAGCTGCTGCA GGCCCCAGTGCTGCCAGTCTGTGTGCTGCCAACCCACTTGTTCCCGCCCC AGCTGCTGTCAGACCACCTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00597.hp1 others(48): Show HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG02074.hp1 HG02132.hp2 HG02135.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp2 HG03195.hp1 HG03540.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18959.hp2 NA18960.hp1 NA18967.hp2 NA18981.hp2 NA18984.hp1 NA18986.hp2 NA18992.hp1 NA19000.hp2 NA19005.hp2 NA19006.hp2 NA19056.hp1 NA19064.hp1 NA19070.hp1 NA19080.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0016 a0002c0003 a0002c0016	a0002c0003t0001 a0002c0016t0001 a0002c0003t0001 a0002c0016t0001	a0002c0003t0001g0000 a0002c0016t0001g0000 a0002c0003t0001g0000 a0002c0016t0001g0000	51	423	0.1206	-120	c.-34 others(11): Show c.-3401_-3282del		KRTAP4-16	ENSG00000241241.1	transcript	ENST00000440582.1	protein_coding					3282		chr17	TogoVar
KRTAP4-16_chr17_41096502_41107209	41105507	GCCGCCCC others(113): Show GCCGCCCCAGCTGTTGTGTATCCAGCTGCTGCAGGCCCCAGTGCTGCCAG TCTGTGTGCTGCCAACCCACTTGTTCCCGCCCCAGCTGCTGTCAGACCAC CTGTTGCAGGACCACCTGCTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG03139.hp1 HG02451.hp1 HG03139.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0000 a0002c0011t0001g0000	2	423	0.0047	-120	c.-34 others(11): Show c.-3418_-3299del		KRTAP4-16	ENSG00000241241.1	transcript	ENST00000440582.1	protein_coding					3299		chr17	TogoVar
KRTAP4-16_chr17_41096502_41107209	41105526	ATCCAGCT others(113): Show ATCCAGCTGCTGCAGGCCCCAGTGCTGCCAGTCTGTGTGCTGCCAACCCA CTTGTTCCCGCCCCAGCTGCTGTCAGACCACCTGTTGCAGGACCACCTGC TACCGCCCCAGCTGTTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0000 a0005c0007t0001g0000	1	423	0.0024	-120	c.-34 others(11): Show c.-3437_-3318del		KRTAP4-16	ENSG00000241241.1	transcript	ENST00000440582.1	protein_coding					3318		chr17	TogoVar
KRTAP4-16_chr17_41096502_41107209	41105561	TGTGCTGC others(113): Show TGTGCTGCCAACCCACTTGTTCCCGCCCCAGCTGCTGTCAGACCACCTGT TGCAGGACCACCTGCTACCGCCCCAGCTGTTGTGTGTCCAGCTGCTGCAG GCCCCAGTGCTGCCAGCCTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0000 a0012c0017t0001g0000	1	423	0.0024	-120	c.-34 others(11): Show c.-3472_-3353del		KRTAP4-16	ENSG00000241241.1	transcript	ENST00000440582.1	protein_coding					3353		chr17	TogoVar
LCN15_chr9_136754634_136769518	136769203	CCCCCCCA others(113): Show CCCCCCCATGCACTGCCCCCCCCGCCACCCCCCCATGCACTGCCCCCCCC GCCACCCCGCCACCCCTCCATGCACTGCCCCCCCGCCACCCCGCCACCCC TCCATGCACTGCCCCCCGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	-120	c.-48 others(11): Show c.-4835_-4716del		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4686		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769218	CCCCCCCC others(113): Show CCCCCCCCGCCACCCCCCCATGCACTGCCCCCCCCGCCACCCCGCCACCC CTCCATGCACTGCCCCCCCGCCACCCCGCCACCCCTCCATGCACTGCCCC CCGCCACCCCCCCATGCACTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 NA18999.hp2 NA19056.hp2 others(2): Show HG02523.hp2 NA18999.hp2 NA19056.hp2 NA19091.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0001 a0001c0001t0001g0012	5	356	0.0140	-120	c.-48 others(11): Show c.-4850_-4731del		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4701		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769398	CCCCCCCC others(113): Show CCCCCCCCGCCACCCCGCCACCCCCCCATGCACTTCCCCCCCGCCACCCC GCCACCCCCCATGCACTGCCCCCCCCGACACCCCGACACCCCCCATGCAC TGCCCCCCCGCCACCCCGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00438.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	2	356	0.0056	-120	c.-50 others(11): Show c.-5030_-4911del		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4881		chr9	TogoVar
LDHAL6A_chr11_18450856_18484601	18467918	TACACACA others(113): Show TACACACACATATATATATACACACACATATATATATACGTATATATATA CGTATATATATACGTATATATATGCATATATATACGTATATATATACATA TATATACGTATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18612.hp1 NA19058.hp2 HG02293.hp1 NA18612.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0062 a0001c0001t0010 a0001c0001t0012 a0001c0001t0062	a0001c0001t0010g0082 a0001c0001t0012g0052 a0001c0001t0062g0084 a0001c0001t0010g0082 a0001c0001t0012g0052 a0001c0001t0062g0084	3	420	0.0071	-120	c.418 others(17): Show c.418+2110_418+2229del		LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD4_chr18_13213760_13657751	13262412	GCTGAGTC others(113): Show GCTGAGTCCCGTGTGGCCCTGTGCGTGGAAACTGAGTCCCGTGCGGCTCT GTGCGTGGGGGCTGAGTCCCGTGCGGCCCTGTGCGTGGAAACTGAGTCCC GTGCGGCCCTGTGCGTGGAAA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18522.hp2 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0016 a0001c0001t0010 a0001c0001t0016	a0001c0001t0010g0099 a0001c0001t0016g0111 a0001c0001t0010g0099 a0001c0001t0016g0111	2	178	0.0112	-120	c.-46 others(21): Show c.-466-15680_-466-15561del		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13262528	GGAAACTG others(113): Show GGAAACTGAGTCCCGTGCGGCTCTGTGCGTGGAAACTGAGTCCCGTGCGG CTCCGTGCGTTGGGGCTGAGTCCCGTGCGGCCCTGTGCGTGGAAACTGAG TCCCGTGCGGCTCCGTGCGTT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp1 HG02886.hp1 others(5): Show HG02559.hp1 HG02809.hp1 HG02886.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 others(3): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021	a0001c0001t0002g0109 a0001c0001t0002g0149 a0001c0001t0002g0163 others(5): Show a0001c0001t0002g0109 a0001c0001t0002g0149 a0001c0001t0002g0163 a0001c0001t0008g0108 a0001c0001t0015g0071 a0001c0001t0018g0075 a0001c0001t0019g0072 a0001c0001t0021g0150	8	178	0.0449	-120	c.-46 others(21): Show c.-466-15575_-466-15456del		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13498075	TACACGTC others(113): Show TACACGTCCTGCTGTGGACACTGGAGAATCCTTCTGCCCACACAAGTCCT GCCATGGACACTGGAGAATCCTTCTCGCCACACACGTCCCTCTGTGGACA CTGGAGAATCCTTCTCCACAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0168 a0001c0001t0050g0168	1	178	0.0056	-120	c.181 others(19): Show c.181+59703_181+59822del		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13498087	TGTGGACA others(113): Show TGTGGACACTGGAGAATCCTTCTGCCCACACAAGTCCTGCCATGGACACT GGAGAATCCTTCTCGCCACACACGTCCCTCTGTGGACACTGGAGAATCCT TCTCCACACACACGTCCTGCC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0054 a0001c0002t0005g0054	1	178	0.0056	-120	c.181 others(19): Show c.181+59726_181+59845del		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPG_chr18_49557057_49604185	49579001	GGGGAGAG others(113): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0374 a0001c0001t0052g0374	1	384	0.0026	-120	c.794 others(17): Show c.794-2296_794-2177del		LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
LMBRD1_chr6_69669010_69802010	69749843	TATATACA others(113): Show TATATACATACTCATATATACATATATAAGTATATATACACATATACATA CTCATATATACATATATAAGTATATATACACATATACATACTCATATATA CATATATAAGTATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02717.hp2 HG02895.hp1 others(4): Show HG01069.hp2 HG02717.hp2 HG02895.hp1 HG03098.hp2 HG03453.hp2 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0329 a0001c0001t0006g0330 a0001c0001t0006g0331 others(4): Show a0001c0001t0006g0329 a0001c0001t0006g0330 a0001c0001t0006g0331 a0001c0001t0006g0332 a0001c0001t0006g0333 a0001c0001t0006g0334 a0001c0001t0006g0335	7	348	0.0201	-120	c.406 others(15): Show c.406-555_406-436del		LMBRD1	ENSG00000168216.13	transcript	ENST00000649934.3	protein_coding	4/15						chr6	TogoVar
LOC400499_chr16_11367015_11532247	11493959	GGGGGCGG others(113): Show GGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGG CAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTG GGGGGCGGGGCAGTGGCGTGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp2 HG02922.hp1 others(2): Show HG01109.hp2 HG02451.hp2 HG02922.hp1 HG03139.hp2 HG03516.hp1	a0027 a0057 a0111 others(1): Show a0027 a0057 a0111 a0140	a0027c0023 a0057c0080 a0111c0074 others(1): Show a0027c0023 a0057c0080 a0111c0074 a0140c0081	a0027c0023t0006 a0057c0080t0004 a0111c0074t0002 others(1): Show a0027c0023t0006 a0057c0080t0004 a0111c0074t0002 a0140c0081t0006	a0027c0023t0006g0005 a0027c0023t0006g0006 a0057c0080t0004g0045 others(2): Show a0027c0023t0006g0005 a0027c0023t0006g0006 a0057c0080t0004g0045 a0111c0074t0002g0039 a0140c0081t0006g0040	5	310	0.0161	-120	c.143 others(17): Show c.1432-283_1432-164del		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66						chr16	TogoVar
LOC400499_chr16_11367015_11532247	11494001	GGGCGGGG others(113): Show GGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCA GTGGCGTGGGGGGCGGGGCAGTGGCGTGAGGGGCGGGGCAGTGGCGTGGG GAGGGGCAGTGGCGTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02723.hp2 HG02965.hp2 HG02109.hp1 HG02723.hp2 HG02965.hp2	a0091 a0129 a0143 a0091 a0129 a0143	a0091c0029 a0129c0053 a0143c0094 a0091c0029 a0129c0053 a0143c0094	a0091c0029t0005 a0129c0053t0002 a0143c0094t0001 a0091c0029t0005 a0129c0053t0002 a0143c0094t0001	a0091c0029t0005g0294 a0129c0053t0002g0291 a0143c0094t0001g0242 a0091c0029t0005g0294 a0129c0053t0002g0291 a0143c0094t0001g0242	3	310	0.0097	-120	c.143 others(17): Show c.1432-325_1432-206del		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66						chr16	TogoVar
LRCH2_chrX_115105616_115239096	115125406	CATATATA others(113): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02293.hp1 others(7): Show HG01243.hp1 HG01884.hp1 HG02293.hp1 HG02698.hp1 HG02735.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 NA18747.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0214 a0001c0001t0002g0038 a0001c0001t0002g0143 others(7): Show a0001c0001t0001g0214 a0001c0001t0002g0038 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0173 a0001c0001t0002g0225	10	238	0.0420	-120	c.179 others(19): Show c.1791+1317_1792-1405del		LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20						chrX	TogoVar
LRCH2_chrX_115105616_115239096	115125454	TATATATA others(113): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0183 a0001c0004t0002g0183	1	238	0.0042	-120	c.179 others(19): Show c.1791+1269_1791+1388del		LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20						chrX	TogoVar
LRP5_chr11_68307591_68454275	68348437	CTCAGGCC others(113): Show CTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTG GGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAA TGAACTCGTGGGGGGGTTGGT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02055.hp1 HG02145.hp2 others(8): Show HG01934.hp1 HG02055.hp1 HG02145.hp2 HG02615.hp1 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG03209.hp1 HG06807.hp1 NA19030.hp2 NA21309.hp1	a0001 a0012 a0001 a0012	a0001c0002 a0001c0004 a0012c0036 a0001c0002 a0001c0004 a0012c0036	a0001c0002t0001 a0001c0004t0001 a0012c0036t0001 a0001c0002t0001 a0001c0004t0001 a0012c0036t0001	a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 others(8): Show a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0004t0001g0084 a0001c0004t0001g0123 a0012c0036t0001g0103	11	212	0.0519	-120	c.488 others(15): Show c.488+299_488+418del		LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68452260	AAGGCCTG others(113): Show AAGGCCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACC CCATCTCTACTGAAAAAATATAAAAATTAGCCGGGCGTGGTGGCGGGTGC CTCTAATGTCAGCCACTCGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	212	0.0047	-120	c.31 others(11): Show c.3191_*3310del		LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding					2986		chr11	TogoVar
MAP2K5_chr15_67537703_67812114	67609495	ATAGATTC others(113): Show ATAGATTCTGTAGACCTATTCTATAGGTCTGTAGATTCTGTAGACCTATT CTATAGGTCTGTAGATTCTGTAGACCTATTCTATAGGTCTGTAGATTCTG TAGACCTATTCTATAGGTCTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00558.hp2 others(64): Show HG00280.hp1 HG00423.hp2 HG00558.hp2 HG00621.hp1 HG00735.hp2 HG01081.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01981.hp1 HG02027.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02273.hp1 HG02273.hp2 HG02523.hp2 HG02602.hp2 HG02698.hp2 HG02976.hp1 HG03195.hp1 HG03492.hp2 HG03688.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18943.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp2 NA18956.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18990.hp1 NA18994.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19055.hp1 NA19060.hp2 NA19063.hp2 NA19070.hp1 NA19080.hp1 NA19087.hp2 NA19090.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0003 a0004c0005 others(1): Show a0001c0001 a0002c0003 a0004c0005 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0002c0003t0006 a0004c0005t0005 a0005c0006t0003	a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0003g0003 others(64): Show a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0004g0238 a0001c0001t0005g0080 a0001c0001t0006g0277 a0002c0003t0006g0278 a0004c0005t0005g0079 a0005c0006t0003g0061	67	278	0.2410	-120	c.545 others(17): Show c.545+8836_545+8955del		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	8/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MARK2_chr11_63834110_63916020	63871708	AGTGTGCA others(113): Show AGTGTGCAGGTGTGGGTGAAGAGTATTCACTGTGTGCAGGTGTGGGTGAA GAGTATTCACTGTGTGCAGGTGTGGGTGAAGAGTATTCACAGTGTGCAGG TGTGGGTGAAGAGTATTCACT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0082 a0001c0001t0004g0082	1	232	0.0043	-120	c.55- others(17): Show c.55-23366_55-23247del		MARK2	ENSG00000072518.23	transcript	ENST00000402010.8	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
MECOM_chr3_169078507_169668712	169472464	GAAGGAAA others(113): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGAAAAGAAAAGAAAAGGAAAGGAAAGGAAAAGAAAAGAGAGG AGAGGAGAGGAGAGGAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp1 HG06807.hp2 HG02559.hp1 HG03195.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0057 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0001g0057 a0001c0001t0003g0039 a0001c0001t0003g0040	3	160	0.0188	-120	c.38- others(17): Show c.38-91060_38-90941del		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MELTF_chr3_196996740_197034817	197032858	ACTCTTGC others(113): Show ACTCTTGCTGATGGGTTGGGTGTGAGCACCTGAAGTAGTGTGATGTCAGA AGATTTTACACTCTTGCTGACTGGTTGGGGTGTGAGCACCTGCAGTAGTG TGATGTCAGAGGATGTTACCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02015.hp1 HG02080.hp1 others(5): Show HG00408.hp2 HG02015.hp1 HG02080.hp1 NA18946.hp2 NA18947.hp2 NA18964.hp1 NA18965.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0033 a0001c0001t0001 a0001c0001t0002 a0001c0001t0033	a0001c0001t0001g0012 a0001c0001t0001g0052 a0001c0001t0002g0225 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0052 a0001c0001t0002g0225 a0001c0001t0033g0173	8	420	0.0191	-120	c.-32 others(11): Show c.-3276_-3157del		MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding					3042		chr3	TogoVar
MLPH_chr2_237482251_237560322	237543179	GGGGGACA others(113): Show GGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTTGGGGGACAGTGGTG AGTGGGCACAGTAGTGAGTAGGGGGACAGTGGTGAATGGGGGACAGTGGT GAATGGGGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp2 HG03704.hp1 HG03704.hp2	a0011 a0011	a0011c0016 a0011c0043 a0011c0016 a0011c0043	a0011c0016t0002 a0011c0043t0002 a0011c0016t0002 a0011c0043t0002	a0011c0016t0002g0075 a0011c0043t0002g0045 a0011c0016t0002g0075 a0011c0043t0002g0045	2	286	0.0070	-120	c.153 others(17): Show c.1539+525_1539+644del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPL21_chr11_68886278_68908832	68892443	CGCGCGGA others(113): Show CGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAGG GTGGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGA AGGGGAGCGAGGTGGGGTCAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp1 HG02258.hp1 HG02622.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0032 a0003c0004t0001g0032	2	395	0.0051	-120	c.553 others(15): Show c.553+327_553+446del		MRPL21	ENSG00000197345.13	transcript	ENST00000362034.7	protein_coding	6/6						chr11	TogoVar
MUC4_chr3_195741771_195816929	195775710	CCATACCT others(113): Show CCATACCTTCCACATCCATACCTTCCACACCCTTACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTC CACGGCCATACCTTCCACGGT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18954.hp2 HG00609.hp1 NA18954.hp2	a0001 a0002 a0001 a0002	a0001c0017 a0002c0001 a0001c0017 a0002c0001	a0001c0017t0001 a0002c0001t0002 a0001c0017t0001 a0002c0001t0002	a0001c0017t0001g0104 a0002c0001t0002g0028 a0001c0017t0001g0104 a0002c0001t0002g0028	2	249	0.0080	-120	c.129 others(21): Show c.12944-1525_12944-1406del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195775739	CCCTTACC others(113): Show CCCTTACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTT ACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACGGTCATACCTT CCACACCCATACCTTCCACGG	C C	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0004 a0004	a0004c0090 a0004c0090	a0004c0090t0001 a0004c0090t0001	a0004c0090t0001g0053 a0004c0090t0001g0053	1	249	0.0040	-120	c.129 others(21): Show c.12944-1554_12944-1435del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195776055	CCATACCT others(113): Show CCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCTTACCTTCCACACCCATACCTTCCACAGCCATACCTTC CACACCCATACCTTCCACAGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18959.hp1 HG01081.hp2 NA18959.hp1	a0009 a0044 a0009 a0044	a0009c0111 a0044c0045 a0009c0111 a0044c0045	a0009c0111t0001 a0044c0045t0001 a0009c0111t0001 a0044c0045t0001	a0009c0111t0001g0109 a0044c0045t0001g0187 a0009c0111t0001g0109 a0044c0045t0001g0187	2	249	0.0080	-120	c.129 others(21): Show c.12944-1870_12944-1751del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar

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