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
GCGR_chr17_81799150_81819008	81818737	CATAGTGA others(107): Show CATAGTGACTTGTGTGTGCACGCCAACACTACACGGCAGATAGTGACTTG TGTGTGCACGCCAACACTACACGGCAGATAGTGACTTGTGTGTGCACGCC AACACTACACGGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01346.hp1 HG02055.hp1 others(17): Show HG01257.hp2 HG01346.hp1 HG02055.hp1 HG02451.hp2 HG02602.hp2 HG02615.hp1 HG02698.hp2 HG02896.hp1 HG02897.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03516.hp2 HG03669.hp2 HG03704.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 NA19030.hp2 NA20905.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0004c0010 others(1): Show a0001c0001 a0001c0002 a0004c0010 a0005c0017	a0001c0001t0001 a0001c0002t0002 a0004c0010t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0004c0010t0001 a0005c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0068 a0001c0002t0002g0006 a0001c0002t0002g0094 a0001c0002t0002g0104 a0004c0010t0001g0017 a0005c0017t0001g0096	20	286	0.0699	-114	c.50 others(11): Show c.5049_*5162del		GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding					4730		chr17	TogoVar
GGACT_chr13_100525180_100593789	100550303	CACACACA others(107): Show CACACACACACACACACACACACACACACACACACACACACACACACACA CACCACTGGCCCTTCTAAGGAAACTGGATGCGCTGAATGAATTAAATCCG AGCCGATTATACTCT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	374	0.0027	-114	c.-10 others(19): Show c.-10-17816_-10-17703del		GGACT	ENSG00000134864.11	transcript	ENST00000683975.1	protein_coding	2/2						chr13	TogoVar
GPR35_chr2_240620480_240638159	240623300	GTCATGAG others(107): Show GTCATGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCG CAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGT GAGGGCGCAAACAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG02080.hp1 others(3): Show HG00597.hp1 HG00673.hp1 HG02080.hp1 HG03688.hp1 NA18612.hp1 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0002g0009 a0001c0001t0003g0068 a0002c0002t0001g0001 others(1): Show a0001c0001t0002g0009 a0001c0001t0003g0068 a0002c0002t0001g0001 a0002c0002t0001g0115	6	398	0.0151	-114	c.-22 others(11): Show c.-2272_-2159del		GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding					2179		chr2	TogoVar
GPR35_chr2_240620480_240638159	240623348	CGCAAACA others(107): Show CGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTC GTGAGGGCGCAAACAGATCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAA ACAGGTCGTGAGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG02895.hp2 others(2): Show HG01515.hp1 HG01517.hp2 HG02895.hp2 HG03017.hp1 HG03491.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0002g0038 a0003c0003t0001g0023 a0003c0003t0001g0070 others(1): Show a0001c0001t0002g0038 a0003c0003t0001g0023 a0003c0003t0001g0070 a0003c0003t0001g0071	5	326	0.0153	-114	c.-22 others(11): Show c.-2224_-2111del		GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding					2131		chr2	TogoVar
GPR35_chr2_240620480_240638159	240623386	CGCAAACA others(107): Show CGCAAACAGGTCGTGAGGGCGCAAACAGATCGTGAGGGCGCAAACAGGTC GTGAGGGCGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGCGCAA ACAGGTCGTGAGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0009 a0002c0006t0009	a0002c0006t0009g0017 a0002c0006t0009g0017	1	260	0.0038	-114	c.-21 others(11): Show c.-2186_-2073del		GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding					2093		chr2	TogoVar
GRIN1_chr9_137134154_137173756	137145078	GGTGGGGA others(107): Show GGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCC CCAGAGGGGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAA AGTGTCCCCAGGGGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp2 others(58): Show HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02165.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02572.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03491.hp1 HG03492.hp2 HG03704.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp1 NA18906.hp1 NA18960.hp1 NA18960.hp2 NA18966.hp2 NA18971.hp1 NA18980.hp2 NA18990.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19058.hp1 NA19077.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0128 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0258 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0002t0001g0020 a0001c0003t0001g0075 a0001c0003t0001g0211 a0001c0004t0001g0095 a0001c0010t0001g0001	61	276	0.2210	-114	c.394 others(15): Show c.394-610_394-497del		GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
GYG2_chrX_2823930_2887818	2845185	ATGTATAT others(107): Show ATGTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTAT GTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGT ATATTTATATACACG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA20300.hp2 HG03225.hp1 NA20300.hp2	a0002 a0011 a0002 a0011	a0002c0006 a0011c0011 a0002c0006 a0011c0011	a0002c0006t0003 a0011c0011t0005 a0002c0006t0003 a0011c0011t0005	a0002c0006t0003g0041 a0011c0011t0005g0042 a0002c0006t0003g0041 a0011c0011t0005g0042	2	312	0.0064	-114	c.149 others(17): Show c.149+1835_149+1948del		GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
GZMM_chr19_539053_554922	540275	CGGTTTAG others(107): Show CGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATC CGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGG TGGCCAGGCCCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02257.hp1 others(4): Show HG01243.hp2 HG01891.hp2 HG02257.hp1 HG02257.hp2 HG03139.hp1 HG03209.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0106 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0106 a0001c0001t0001g0143 a0001c0001t0003g0088	7	120	0.0583	-114	c.-37 others(11): Show c.-3796_-3683del		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					3777		chr19	TogoVar
GZMM_chr19_539053_554922	551644	TCTTCTCT others(107): Show TCTTCTCTTTCCCTCCCTTCCCCTTCTCTCCCCTCCCCTCCCCTCCTCTC TCTTTCTTTCTTTCCTTTCTTTCCTTTCTTCCCCGTCTCCCCTTCCCCTC CCCTCCCCTCTCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01243.hp2 HG02258.hp2 others(13): Show HG00642.hp1 HG01243.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02698.hp1 HG02723.hp2 HG02886.hp2 HG02922.hp1 HG03041.hp1 HG03239.hp2 HG03471.hp2 HG03654.hp1 HG06807.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0086 others(11): Show a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0086 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0140 a0001c0001t0001g0157 a0001c0001t0001g0194 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0003g0059 a0001c0001t0003g0088 a0001c0001t0003g0193 a0001c0001t0003g0227	16	396	0.0404	-114	c.18 others(11): Show c.1854_*1967del		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					1723		chr19	TogoVar
H1-6_chr6_26102412_26113135	26107487	CCTTTCTA others(107): Show CCTTTCTAACATTAACTTCATGATGTTGGGTCAATTTTGACTTCGAAGCC CTTGCCTTCACTGGGCTCTTCTGCTGTTGCTTACCCTTGGCTCCTTTAGC CTTTCTCCCGCTCCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02976.hp2 HG02976.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0000 a0008c0009t0001g0000	1	406	0.0025	-114	c.493 others(7): Show c.493_606del	p.Arg others(13): Show p.Arg165_Lys202del	H1-6	ENSG00000187475.6	transcript	ENST00000338379.6	protein_coding	1/1	648/724	493/624	165/207			chr6	TogoVar
H4C3_chr6_26098933_26109337	26107487	CCTTTCTA others(107): Show CCTTTCTAACATTAACTTCATGATGTTGGGTCAATTTTGACTTCGAAGCC CTTGCCTTCACTGGGCTCTTCTGCTGTTGCTTACCCTTGGCTCCTTTAGC CTTTCTCCCGCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	406	0.0025	-114	c.32 others(11): Show c.3229_*3342del		H4C3	ENSG00000197061.5	transcript	ENST00000377803.4	protein_coding					3151		chr6	TogoVar
HACL1_chr3_15555699_15606569	15592549	CATGTGTG others(107): Show CATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATG TACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATA CACATGTACGCACAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01433.hp1 HG01928.hp2 others(9): Show HG00408.hp1 HG01433.hp1 HG01928.hp2 HG01934.hp2 HG02698.hp1 NA18961.hp1 NA18968.hp1 NA18983.hp1 NA18992.hp1 NA18998.hp2 NA19064.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0022 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0171 a0001c0001t0001g0179 a0001c0001t0001g0355	12	345	0.0348	-114	c.228 others(15): Show c.228-983_228-870del		HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16						chr3	TogoVar
HACL1_chr3_15555699_15606569	15592857	CATGTGTG others(107): Show CATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATG TACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATA CACATGTACGCACAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	380	0.0026	-114	c.228 others(17): Show c.228-1291_228-1178del		HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16						chr3	TogoVar
HSD17B11_chr4_87331515_87396188	87378819	AATATATA others(107): Show AATATATATATAAATATATATATATAAATATATATATAAATATATATAAA TATATATATATAAATATATATATATAAATATATATAAATATATATATATA AATATATATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03209.hp2 HG02055.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0011 a0001c0002t0005 a0001c0002t0011	a0001c0002t0005g0150 a0001c0002t0011g0149 a0001c0002t0005g0150 a0001c0002t0011g0149	2	383	0.0052	-114	c.318 others(17): Show c.318+3322_318+3435del		HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6						chr4	TogoVar
HSD17B11_chr4_87331515_87396188	87378850	ATATATAA others(107): Show ATATATAAATATATATAAATATATATATATAAATATATATATATAAATAT ATATAAATATATATATATAAATATATATAAATATATATATATATATATTT ATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0147 a0001c0002t0011g0147	1	376	0.0027	-114	c.318 others(17): Show c.318+3291_318+3404del		HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6						chr4	TogoVar
INPP4B_chr4_142018160_142851301	142245762	GTATATGT others(107): Show GTATATGTGTGTATATATATATGTGTGTATGTATACATATATATGTGTAT GTATACATATATGTGTATGTATACATATATATGTGTATGTATACATATAT GTGTATGTATACATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0035 a0001c0001t0023g0035	1	85	0.0118	-114	c.689 others(17): Show c.689-7865_689-7752del		INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	11/25						chr4	TogoVar
KANK1_chr9_499695_751103	707479	GTCCTGGA others(107): Show GTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTT TCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAA TGGAGTTTCAGACAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(42): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00597.hp1 HG00639.hp2 HG01070.hp2 HG01081.hp2 HG01168.hp1 HG01175.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01884.hp2 HG01934.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02165.hp2 HG02280.hp2 HG02683.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG03098.hp2 HG03239.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18522.hp1 NA18947.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18984.hp2 NA19010.hp1 NA19070.hp2 NA19074.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0018 a0021 a0029	a0001c0001 a0002c0002 a0002c0008 others(7): Show a0001c0001 a0002c0002 a0002c0008 a0002c0044 a0002c0045 a0006c0019 a0006c0031 a0018c0017 a0021c0047 a0029c0060	a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 others(12): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0008t0001 a0002c0008t0002 a0002c0044t0015 a0002c0045t0003 a0006c0019t0001 a0006c0019t0005 a0006c0031t0002 a0018c0017t0007 a0021c0047t0002 a0029c0060t0002	a0001c0001t0003g0170 a0002c0002t0001g0168 a0002c0002t0002g0010 others(42): Show a0001c0001t0003g0170 a0002c0002t0001g0168 a0002c0002t0002g0010 a0002c0002t0002g0012 a0002c0002t0002g0022 a0002c0002t0002g0041 a0002c0002t0002g0114 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0127 a0002c0002t0002g0141 a0002c0002t0002g0146 a0002c0002t0002g0148 a0002c0002t0002g0152 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0178 a0002c0002t0002g0187 a0002c0002t0002g0189 a0002c0002t0002g0213 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0248 a0002c0002t0003g0001 a0002c0002t0003g0025 a0002c0002t0003g0028 a0002c0002t0003g0143 a0002c0002t0003g0145 a0002c0002t0003g0182 a0002c0002t0003g0250 a0002c0002t0004g0169 a0002c0008t0001g0138 a0002c0008t0002g0144 a0002c0008t0002g0147 a0002c0008t0002g0254 a0002c0044t0015g0081 a0002c0045t0003g0197 a0006c0019t0001g0009 a0006c0019t0005g0103 a0006c0031t0002g0003 a0018c0017t0007g0078 a0021c0047t0002g0174 a0029c0060t0002g0249	45	243	0.1852	-114	c.38- others(15): Show c.38-3211_38-3098del		KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	707878	GTCCTGGA others(107): Show GTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTT TCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAA TGGAGTTTCAGACAT	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02280.hp2 HG02683.hp1 others(3): Show HG02056.hp2 HG02280.hp2 HG02683.hp1 HG03834.hp1 HG04115.hp2 NA20805.hp2	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0001 a0002c0002 a0002c0045 others(1): Show a0001c0001 a0002c0002 a0002c0045 a0018c0017	a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 others(2): Show a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 a0002c0045t0003 a0018c0017t0007	a0001c0001t0003g0170 a0002c0002t0002g0148 a0002c0002t0003g0143 others(3): Show a0001c0001t0003g0170 a0002c0002t0002g0148 a0002c0002t0003g0143 a0002c0002t0003g0145 a0002c0045t0003g0197 a0018c0017t0007g0078	6	252	0.0238	-114	c.38- others(15): Show c.38-2812_38-2699del		KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNMB2_chr3_178531436_178849429	178757595	TATATATA others(107): Show TATATATATATGTATATATATCCAAGAGGATATATATATGTATATATATC CAAGAGGATATATATATATGTATATATATCCAAGAGGATATATATATGTA TATATATCCAAGAGG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01261.hp1 HG03491.hp2 others(3): Show HG01069.hp1 HG01261.hp1 HG03491.hp2 HG03834.hp1 HG04184.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0017 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0063 a0001c0001t0002g0133 a0001c0001t0002g0138	6	229	0.0262	-114	c.-67 others(19): Show c.-67-49709_-67-49596del		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KHDRBS2_chr6_61674961_62291225	61954640	ACATACTT others(107): Show ACATACTTATGTATACATACATATGTGTATATACACATACATACTTATGT ATACATACATATGTGTATATACACATGCATACTTATGTATACATACATAT GTGTATATACACATG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0184 a0001c0001t0006g0184	1	141	0.0071	-114	c.483 others(19): Show c.483+23312_483+23425del		KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	4/8						chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	61955445	TATGTGTA others(107): Show TATGTGTATATATACATATGTGTATATATACACATATGTATGTATGTATA CATGTGTATATATACACATATGTATGTATGTATACATGTGTATATATACA CATATGTATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03225.hp2 HG02896.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0003 a0001c0001t0004 a0001c0003t0003	a0001c0001t0004g0182 a0001c0003t0003g0035 a0001c0001t0004g0182 a0001c0003t0003g0035	2	233	0.0086	-114	c.483 others(19): Show c.483+22507_483+22620del		KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	4/8						chr6	TogoVar
KIF4A_chrX_70285104_70425886	70373652	ATATATAC others(107): Show ATATATACGTATATATATACATATATACGTGTATATATATACGTATATAT ATACACATATACGTGTATATATATACGTATATATATACATATATACGTGT ATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0231 a0001c0002t0001g0231	1	257	0.0039	-114	c.167 others(17): Show c.1675-492_1675-379del		KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30					INFO_REALIGN_3_PRIME	chrX	TogoVar
KIN_chr10_7745962_7792993	7747098	GATCTCTG others(107): Show GATCTCTGACTGCTTTTTTTGTAGCTTTTCTTACACAAACCACCCCCATA TGCTTCATCTGAAGTGAGAACTTAGACGCTCATAACGCATTCTGAGTGTA AAAGTCTTACAAATC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0029 a0001c0001t0011g0029	1	424	0.0024	-114	c.88 others(11): Show c.8868_*8981del		KIN	ENSG00000151657.12	transcript	ENST00000379562.9	protein_coding					3863		chr10	TogoVar
KRBA2_chr17_8353822_8381704	8373616	CGTCTCTG others(107): Show CGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTGTGCCC GGCCGCCCAGTCTGGGAAGTGAGGAGCCTCTTCCCGGCCGCCATCCCGTC TGGGAAGTGAGGAGG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02615.hp2 others(4): Show HG02258.hp1 HG02280.hp2 HG02615.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0091 a0001c0001t0010 a0001c0001t0091	a0001c0001t0010g0048 a0001c0001t0010g0260 a0001c0001t0010g0262 others(3): Show a0001c0001t0010g0048 a0001c0001t0010g0260 a0001c0001t0010g0262 a0001c0001t0010g0263 a0001c0001t0010g0264 a0001c0001t0091g0261	7	386	0.0181	-114	c.-21 others(17): Show c.-21+2170_-21+2283del		KRBA2	ENSG00000184619.8	transcript	ENST00000396267.3	protein_coding	1/1						chr17	TogoVar
LAMA2_chr6_128878138_129521566	129286739	TATATAAT others(107): Show TATATAATAATATATAATATATTATATAATATATAATAATATATAATATA TTATATAATATATAATAATATATAATATATTATATAATATATAATAATAT ATAATATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01192.hp2 NA18973.hp2 HG00140.hp2 HG01192.hp2 NA18973.hp2	a0006 a0017 a0018 a0006 a0017 a0018	a0006c0046 a0017c0038 a0018c0036 a0006c0046 a0017c0038 a0018c0036	a0006c0046t0001 a0017c0038t0001 a0018c0036t0003 a0006c0046t0001 a0017c0038t0001 a0018c0036t0003	a0006c0046t0001g0075 a0017c0038t0001g0071 a0018c0036t0003g0088 a0006c0046t0001g0075 a0017c0038t0001g0071 a0018c0036t0003g0088	3	86	0.0349	-114	c.253 others(18): Show c.2538-1102_2538-989del		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	18/64					INFO_REALIGN_3_PRIME	chr6	TogoVar
LAT2_chr7_74205006_74234834	74214443	TAAATATA others(107): Show TAAATATATATATGAAAATATATATATAAATATATATATATGAAAATATA TATATAAATATATATATATGAAAATATATATAAATATATATATGAATATA TATATATATATATGA	T T	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	336	0.0030	-114	c.-21 others(17): Show c.-218-366_-218-253del		LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
LAT2_chr7_74205006_74234834	74214473	TATATATA others(107): Show TATATATATATGAAAATATATATATAAATATATATATATGAAAATATATA TAAATATATATATGAATATATATATATATATATGAAAATATATATATATG AAAATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp1 HG01070.hp2 others(5): Show HG00438.hp1 HG00741.hp1 HG01070.hp2 HG01981.hp2 HG02083.hp1 HG02135.hp1 HG04199.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(5): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0007g0093	8	340	0.0235	-114	c.-21 others(17): Show c.-218-325_-218-212del		LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
LAT2_chr7_74205006_74234834	74214515	AATATATA others(107): Show AATATATATAAATATATATATGAATATATATATATATATATGAAAATATA TATATATGAAAATATATATATAAATATATATATGAAAATATATATAAATA TATATATGAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02572.hp2 HG00558.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0040 a0001c0003t0001g0051 a0001c0001t0001g0040 a0001c0003t0001g0051	2	316	0.0063	-114	c.-21 others(17): Show c.-218-297_-218-184del		LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
LCLAT1_chr2_30442246_30649225	30591002	TATTGTGA others(107): Show TATTGTGACTTTTGCAGTTTAGGGCATTAGAAAATCAGTTTGTATAACTG AAATTGGAACTAAATGTTATAGCTATTGAGGAAAATAATGTTACTTTCCA AACTAGAGTATAGTG	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0042 a0002c0002t0002g0042	1	364	0.0027	-114	c.628 others(19): Show c.628+22889_628+23002del		LCLAT1	ENSG00000172954.14	transcript	ENST00000379509.8	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
LEKR1_chr3_156821353_157051129	156899367	TATACATA others(107): Show TATACATATATACACATATATACATGTATATATACATATATACATATATA CACATATATACATGTATATATACATATATACATATATACACATATATACA TGTATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG01515.hp2 others(10): Show HG00140.hp1 HG00733.hp1 HG01515.hp2 HG02280.hp1 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02886.hp1 HG02922.hp2 HG03139.hp2 HG03209.hp2 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0012 a0001c0002 a0001c0004 a0001c0012	a0001c0002t0001 a0001c0004t0001 a0001c0012t0001 a0001c0002t0001 a0001c0004t0001 a0001c0012t0001	a0001c0002t0001g0001 a0001c0002t0001g0034 a0001c0002t0001g0037 others(9): Show a0001c0002t0001g0001 a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0004t0001g0032 a0001c0004t0001g0052 a0001c0012t0001g0033	13	242	0.0537	-114	c.264 others(19): Show c.264-21170_264-21057del		LEKR1	ENSG00000197980.14	transcript	ENST00000356539.9	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
LHFPL2_chr5_78480230_78653772	78592621	TACACACA others(107): Show TACACACACACACACACACATTACTCTTCAACTTAGTGAAAAATTCAGAT ACACACACACACACACACACACACACATTACTCTTCAACTTAGTGAAAAA TTCAGATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG02630.hp1 others(10): Show HG01243.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0001t0012 a0001c0001t0022 others(3): Show a0001c0001t0008 a0001c0001t0012 a0001c0001t0022 a0001c0001t0030 a0001c0003t0009 a0001c0003t0040	a0001c0001t0008g0239 a0001c0001t0012g0223 a0001c0001t0022g0120 others(10): Show a0001c0001t0008g0239 a0001c0001t0012g0223 a0001c0001t0022g0120 a0001c0001t0030g0126 a0001c0003t0009g0058 a0001c0003t0009g0071 a0001c0003t0009g0082 a0001c0003t0009g0093 a0001c0003t0009g0121 a0001c0003t0009g0123 a0001c0003t0009g0145 a0001c0003t0009g0231 a0001c0003t0040g0244	13	68	0.1912	-114	c.-24 others(21): Show c.-244-27864_-244-27751del		LHFPL2	ENSG00000145685.14	transcript	ENST00000380345.7	protein_coding	2/4						chr5	TogoVar
LIPI_chr21_14103813_14215955	14161708	TTATATAT others(107): Show TTATATATTAATATATAATATATACATTATTATATATTAATATATAATAT ATACATTATTATATATTAATATATAATATATACATTATTATATATTAATG TATAATATATACAAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG00738.hp1 others(64): Show HG00558.hp2 HG00639.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01168.hp2 HG01192.hp2 HG01257.hp1 HG01346.hp2 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02129.hp1 HG02135.hp1 HG02257.hp1 HG02293.hp2 HG02451.hp1 HG02698.hp1 HG02723.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03239.hp2 HG03486.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp1 NA18940.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18953.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA19000.hp2 NA19058.hp1 NA19063.hp2 NA19079.hp2 NA19085.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0016	a0001c0001 a0002c0002 a0003c0005 others(5): Show a0001c0001 a0002c0002 a0003c0005 a0003c0006 a0004c0003 a0004c0021 a0005c0004 a0016c0015	a0001c0001t0001 a0002c0002t0002 a0003c0005t0002 others(5): Show a0001c0001t0001 a0002c0002t0002 a0003c0005t0002 a0003c0006t0002 a0004c0003t0001 a0004c0021t0005 a0005c0004t0002 a0016c0015t0007	a0001c0001t0001g0021 a0001c0001t0001g0043 a0001c0001t0001g0113 others(58): Show a0001c0001t0001g0021 a0001c0001t0001g0043 a0001c0001t0001g0113 a0001c0001t0001g0303 a0002c0002t0002g0015 a0002c0002t0002g0220 a0002c0002t0002g0230 a0002c0002t0002g0240 a0003c0005t0002g0269 a0003c0005t0002g0305 a0003c0005t0002g0306 a0003c0006t0002g0002 a0003c0006t0002g0214 a0003c0006t0002g0227 a0003c0006t0002g0231 a0004c0003t0001g0003 a0004c0003t0001g0107 a0004c0003t0001g0123 a0004c0003t0001g0124 a0004c0003t0001g0125 a0004c0003t0001g0126 a0004c0003t0001g0127 a0004c0003t0001g0128 a0004c0003t0001g0129 a0004c0003t0001g0130 a0004c0003t0001g0131 a0004c0003t0001g0132 a0004c0003t0001g0198 a0004c0003t0001g0236 a0004c0003t0001g0237 a0004c0003t0001g0238 a0004c0003t0001g0239 a0004c0003t0001g0241 a0004c0003t0001g0242 a0004c0003t0001g0244 a0004c0003t0001g0245 a0004c0003t0001g0255 a0004c0003t0001g0256 a0004c0003t0001g0258 a0004c0003t0001g0259 a0004c0003t0001g0261 a0004c0003t0001g0262 a0004c0021t0005g0317 a0005c0004t0002g0067 a0005c0004t0002g0068 a0005c0004t0002g0069 a0005c0004t0002g0070 a0005c0004t0002g0071 a0005c0004t0002g0072 a0005c0004t0002g0215 a0005c0004t0002g0216 a0005c0004t0002g0219 a0005c0004t0002g0221 a0005c0004t0002g0222 a0005c0004t0002g0223 a0005c0004t0002g0225 a0005c0004t0002g0226 a0005c0004t0002g0228 a0005c0004t0002g0232 a0005c0004t0002g0315 a0016c0015t0007g0337	67	355	0.1887	-114	c.100 others(19): Show c.1006+1597_1006+1710del		LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding	7/9						chr21	TogoVar
LMF1_chr16_848634_975984	953250	CACCCACC others(107): Show CACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCA GCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCTTCCTACACG TTCACACAGACACGG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA19064.hp1 HG00738.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0160 a0001c0003t0001g0174 a0001c0001t0001g0160 a0001c0003t0001g0174	2	291	0.0069	-114	c.503 others(16): Show c.503+993_503+1106del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	960318	AACCCAGA others(107): Show AACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACA GACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGA CAGCACGGGATCACG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00738.hp2 others(71): Show HG00544.hp2 HG00558.hp1 HG00738.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18943.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18966.hp2 NA18973.hp1 NA18975.hp1 NA18982.hp1 NA18983.hp2 NA18990.hp1 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19064.hp2 NA19068.hp1 NA19077.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0007 a0008 a0019 a0020	a0001c0002 a0001c0004 a0001c0005 others(16): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0012 a0001c0013 a0001c0020 a0001c0041 a0001c0044 a0001c0067 a0002c0016 a0002c0017 a0004c0019 a0005c0043 a0007c0046 a0008c0045 a0019c0042 a0020c0040	a0001c0002t0001 a0001c0002t0006 a0001c0004t0001 others(21): Show a0001c0002t0001 a0001c0002t0006 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0008t0002 a0001c0012t0001 a0001c0013t0001 a0001c0013t0014 a0001c0020t0001 a0001c0041t0001 a0001c0044t0001 a0001c0067t0001 a0002c0016t0001 a0002c0017t0001 a0004c0019t0001 a0005c0043t0003 a0007c0046t0004 a0008c0045t0003 a0019c0042t0001 a0020c0040t0004	a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0027 others(71): Show a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0086 a0001c0002t0001g0093 a0001c0002t0006g0048 a0001c0004t0001g0049 a0001c0004t0001g0054 a0001c0004t0001g0059 a0001c0004t0001g0064 a0001c0004t0001g0067 a0001c0004t0001g0072 a0001c0004t0001g0078 a0001c0004t0001g0087 a0001c0004t0001g0090 a0001c0004t0001g0091 a0001c0004t0004g0030 a0001c0004t0005g0071 a0001c0005t0001g0037 a0001c0005t0001g0047 a0001c0005t0001g0068 a0001c0006t0001g0073 a0001c0006t0001g0081 a0001c0006t0001g0092 a0001c0008t0001g0023 a0001c0008t0001g0055 a0001c0008t0001g0056 a0001c0008t0001g0065 a0001c0008t0001g0074 a0001c0008t0001g0089 a0001c0008t0002g0057 a0001c0012t0001g0084 a0001c0012t0001g0094 a0001c0012t0001g0098 a0001c0012t0001g0099 a0001c0012t0001g0101 a0001c0013t0001g0039 a0001c0013t0001g0042 a0001c0013t0001g0044 a0001c0013t0014g0022 a0001c0020t0001g0097 a0001c0020t0001g0100 a0001c0041t0001g0088 a0001c0044t0001g0034 a0001c0067t0001g0075 a0002c0016t0001g0060 a0002c0016t0001g0062 a0002c0016t0001g0063 a0002c0017t0001g0038 a0002c0017t0001g0080 a0002c0017t0001g0096 a0004c0019t0001g0079 a0004c0019t0001g0082 a0005c0043t0003g0119 a0007c0046t0004g0036 a0008c0045t0003g0066 a0019c0042t0001g0083 a0020c0040t0004g0270	74	251	0.2948	-114	c.194 others(17): Show c.194-5766_194-5653del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10						chr16	TogoVar
LMF1_chr16_848634_975984	960394	GACCCAGA others(107): Show GACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACA GACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGA CAACACTGGATCACA	G G	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0018 a0001c0012t0018	a0001c0012t0018g0035 a0001c0012t0018g0035	1	284	0.0035	-114	c.194 others(17): Show c.194-5842_194-5729del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10						chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89400031	CCGGTCAT others(107): Show CCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGC TGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTT CCCTGCGCTGGGGGA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18522.hp2 HG02280.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0322 a0001c0001t0001g0323	2	323	0.0062	-114	c.9+1 others(15): Show c.9+18139_9+18252del		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1						chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89400412	CGGTCATC others(107): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02129.hp2 HG02698.hp1 others(2): Show HG01433.hp2 HG02129.hp2 HG02698.hp1 HG03669.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0107 others(2): Show a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0356	5	364	0.0137	-114	c.9+1 others(15): Show c.9+17758_9+17871del		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1						chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89400449	ACGGTCAT others(107): Show ACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGC TGCCCCAGGCTTCCCTGCGCTGGGGGATGGTCATCTGCTGCCCCAGGCTT CCCTGCGCTGGGGGC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01891.hp1 HG02055.hp1 others(1): Show HG00438.hp1 HG01891.hp1 HG02055.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0213 a0001c0001t0001g0214 others(1): Show a0001c0001t0001g0067 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0320	4	233	0.0172	-114	c.9+1 others(15): Show c.9+17721_9+17834del		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1						chr16	TogoVar
LOC400499_chr16_11367015_11532247	11499120	AAGGGGGG others(107): Show AAGGGGGGAAGGGAGGCAGAGGGGAGGGGGGAAGGGAGGCAGAGGGGAGG GGGGAGGGAGGCAGAGGGGAGGGGGGAAGGGAGGCAGAGGGGAGGGGGGA AGGGAGGCAGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0118 a0118	a0118c0194 a0118c0194	a0118c0194t0002 a0118c0194t0002	a0118c0194t0002g0031 a0118c0194t0002g0031	1	260	0.0038	-114	c.124 others(19): Show c.1245+1570_1245+1683del		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	10/66						chr16	TogoVar
LRCH2_chrX_115105616_115239096	115125406	CATATATA others(107): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0005	1	24	0.0417	-114	c.179 others(19): Show c.1791+1323_1792-1405del		LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20						chrX	TogoVar
LRCH3_chr3_197786254_197893436	197805433	AAGAGGGG others(107): Show AAGAGGGGGACACGCCTCCAAACTGAAAACCTAATGACAGCCGACATGCA GAATGGTAAGATCTCTAGGCATCTCCCTGCTTGGCTGATATACTCCTCTG ATTATTGGAGTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01069.hp1 HG01071.hp1 others(20): Show HG00423.hp2 HG01069.hp1 HG01071.hp1 HG01361.hp2 HG02109.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02622.hp2 HG02818.hp2 HG02965.hp1 HG03017.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18962.hp1 NA18984.hp1 NA19002.hp1 NA19030.hp1 NA19058.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003 a0007c0016 a0009c0019	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(12): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0029 a0001c0002t0001 a0001c0002t0010 a0001c0004t0006 a0001c0005t0008 a0001c0005t0035 a0001c0005t0048 a0002c0003t0002 a0002c0003t0022 a0007c0016t0008 a0009c0019t0001	a0001c0001t0001g0041 a0001c0001t0001g0151 a0001c0001t0001g0222 others(19): Show a0001c0001t0001g0041 a0001c0001t0001g0151 a0001c0001t0001g0222 a0001c0001t0001g0249 a0001c0001t0005g0043 a0001c0001t0008g0072 a0001c0001t0011g0069 a0001c0001t0011g0071 a0001c0001t0011g0074 a0001c0001t0011g0077 a0001c0001t0029g0248 a0001c0002t0001g0080 a0001c0002t0010g0176 a0001c0004t0006g0073 a0001c0004t0006g0079 a0001c0005t0008g0001 a0001c0005t0035g0039 a0001c0005t0048g0040 a0002c0003t0002g0078 a0002c0003t0022g0067 a0007c0016t0008g0042 a0009c0019t0001g0136	23	290	0.0793	-114	c.263 others(17): Show c.263-9349_263-9236del		LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRN1_chr3_3794431_3854834	3800531	GTCCACGC others(107): Show GTCCACGCGGGGACAGACCTCAGCCCGTGAGCCTTGAGCTCCACGCGGGG ACAGACCTCAGCCCGTGAGCCTTGAGCTCCACGCGGGGACAGACCTCAGC CCGTGAGCCTTGAGC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18944.hp2 NA18986.hp2 others(3): Show HG00735.hp2 NA18944.hp2 NA18986.hp2 NA18993.hp1 NA19058.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0070 a0001c0001t0001 a0001c0001t0003 a0001c0001t0070	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0003g0034 others(2): Show a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0003g0034 a0001c0001t0003g0282 a0001c0001t0070g0283	6	19	0.3158	-114	c.-27 others(17): Show c.-279+727_-279+840del		LRRN1	ENSG00000175928.6	transcript	ENST00000319331.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
MAGI2_chr7_78012055_79458667	79135954	AGAAAGAA others(107): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAGGAAAG AAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0012 a0001c0003t0002g0012	1	40	0.0250	-114	c.302 others(21): Show c.302-128862_302-128749del		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21						chr7	TogoVar
MBTPS1_chr16_84048763_84121942	84051411	GGCAAGGC others(107): Show GGCAAGGCCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTGCGTA AGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATG TGGGTAAGGAGAGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02717.hp1 HG03486.hp2 HG02615.hp2 HG02717.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0006 a0001c0001t0011g0235 a0001c0001t0011g0006 a0001c0001t0011g0235	3	334	0.0090	-114	c.29 others(11): Show c.2924_*3037del		MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding					2351		chr16	TogoVar
MCRIP1_chr17_81817361_81838291	81818737	CATAGTGA others(107): Show CATAGTGACTTGTGTGTGCACGCCAACACTACACGGCAGATAGTGACTTG TGTGTGCACGCCAACACTACACGGCAGATAGTGACTTGTGTGTGCACGCC AACACTACACGGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01346.hp1 HG02055.hp1 others(15): Show HG01257.hp2 HG01346.hp1 HG02055.hp1 HG02451.hp2 HG02602.hp2 HG02615.hp2 HG02698.hp2 HG02897.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03516.hp2 HG03669.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp2 NA19030.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0092 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0006g0041	18	248	0.0726	-114	c.43 others(11): Show c.4396_*4509del		MCRIP1	ENSG00000225663.8	transcript	ENST00000455127.7	protein_coding					3623		chr17	TogoVar
MEAK7_chr16_84471355_84509659	84479390	GCTAATGC others(107): Show GCTAATGCCAGCGGAATTCCCTAATGCCAGCGGAATTCCCTAATGCCAGC GGAATTCCCTAATGCCAGCGGAATTCCCTAATGCCAGCGGAATTCCCTAA TGCCAGCGGAATTCC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp1 HG01346.hp2 HG01981.hp2 others(12): Show HG01099.hp1 HG01346.hp2 HG01981.hp2 HG02027.hp2 HG02083.hp2 HG02129.hp2 HG02809.hp2 HG04228.hp2 NA18963.hp1 NA18964.hp2 NA18995.hp2 NA19004.hp2 NA19057.hp2 NA19091.hp1 NA20129.hp1	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0021c0031	a0001c0001t0054 a0001c0001t0154 a0001c0001t0155 others(11): Show a0001c0001t0054 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0002t0151 a0001c0002t0152 a0001c0002t0153 a0002c0003t0118 a0021c0031t0219	a0001c0001t0054g0415 a0001c0001t0054g0416 a0001c0001t0154g0068 others(12): Show a0001c0001t0054g0415 a0001c0001t0054g0416 a0001c0001t0154g0068 a0001c0001t0155g0262 a0001c0001t0156g0268 a0001c0001t0157g0260 a0001c0001t0158g0397 a0001c0001t0159g0264 a0001c0001t0160g0269 a0001c0001t0161g0110 a0001c0002t0151g0296 a0001c0002t0152g0318 a0001c0002t0153g0321 a0002c0003t0118g0127 a0021c0031t0219g0112	15	64	0.2344	-114	c.40 others(9): Show c.409_*522del		MEAK7	ENSG00000140950.16	transcript	ENST00000343629.11	protein_coding	8/8				409		chr16	TogoVar
MEGF6_chr1_3482951_3616508	3583664	GCGCAGCC others(107): Show GCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCACAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCAC AGCCACCAGACAACC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0083 a0083	a0083c0074 a0083c0074	a0083c0074t0008 a0083c0074t0008	a0083c0074t0008g0240 a0083c0074t0008g0240	1	254	0.0039	-114	c.377 others(17): Show c.377-3849_377-3736del		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
METAP1D_chr2_171994953_172087430	172042462	CATATATA others(107): Show CATATATACATATGTGTGTGTACATGTGTACATATATACATATATACATA TGTATGTGTACATGTGTACATATATACATATATGTGTGTATGTGTACATG TGCACATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG06807.hp1 HG03453.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0142 a0001c0001t0004g0173 a0001c0001t0002g0142 a0001c0001t0004g0173	2	353	0.0057	-114	c.41- others(17): Show c.41-19031_41-18918del		METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
METRNL_chr17_83074609_83100122	83092504	CGTGGAGG others(107): Show CGTGGAGGTGGGTTGGGGGCGACTCTGGGAGGTGGGGGTGCTCCTGGCGC CGTGGGCTGTGGAGGTGGGTTGGGGGCGACTCTGGGAGGTGGGGGTGCTC CCGGCGCCGTGGGCT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0273 a0001c0001t0021g0273	1	398	0.0025	-114	c.557 others(15): Show c.557-619_557-506del		METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
METTL26_chr16_629430_641305	632028	GCCTCTCC others(107): Show GCCTCTCCTCCCACCCTCTCCTCCCATCCACTCCTCCCATCCACTCCTCC CATCCACTTCTTCCATCCTCTTCTCCCACCCCGTCACTGCCTCTCCTTCC ATCCTCTCCTCCCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	328	0.0030	-114	c.24 others(11): Show c.2455_*2568del		METTL26	ENSG00000130731.16	transcript	ENST00000301686.13	protein_coding					2401		chr16	TogoVar

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