Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GABRA2_chr4_46238548_46395128	46377645	GGTGAGGG others(121): Show GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCTCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0127 a0001c0001t0026g0127	1	258	0.0039	-128	c.187 others(17): Show c.187+8301_187+8428del	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GAK_chr4_844277_937316	856152	CCACACCT others(121): Show CCACACCTGCTCACCACCACAGCTGCTCACACCTGCTCACCACAGCTGCT CACACCTGCTCACCACAGCTGCTCACCACCACAGCTGCTCACACCTGCTC ACCACAGCTGCTCACAACTGCTCACACCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18522.hp1 NA19240.hp1 HG01884.hp1 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0199 a0001c0014t0002g0214 a0001c0014t0002g0385 a0001c0014t0002g0199 a0001c0014t0002g0214 a0001c0014t0002g0385	3	390	0.0077	-128	c.328 others(19): Show c.3283+3326_3283+3453del	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	24/27			chr4	TogoVar
GALNT9_chr12_132191372_132334589	132303382	GGGGCACA others(121): Show GGGGCACAGCCTCGCCCGGGCACACCCTCACCCGGGCACAGCCTCGCCCG GGCACACCCTCGCCCGGGCACACCCTCGCCCGGACACACCCTCACCCGGG CACAGAATCGCCCAGACACACCCTCGCCT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0012 a0001c0025t0012	a0001c0025t0012g0048 a0001c0025t0012g0048	1	183	0.0055	-128	c.239 others(19): Show c.239-17080_239-16953del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132305054	GAATCGCC others(121): Show GAATCGCCCAGACACACCCTCACCTGGGCACACCCTCACCCGGGCACAGC CTCACCCAGACACGCCCTCACCCGGGCACAGCCTCGCCCGGGCACACCCT CGCCTGGGCACAGCCTCGCCCGGGCACAC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02280.hp1 HG02698.hp1 others(7): Show HG01175.hp1 HG02280.hp1 HG02698.hp1 HG02738.hp1 HG02976.hp2 HG03209.hp1 HG03486.hp1 HG03834.hp2 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0001c0026 a0001c0039 a0001c0040	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0001c0026t0014 a0001c0039t0006 a0001c0040t0007	a0001c0001t0001g0059 a0001c0002t0001g0068 a0001c0002t0001g0151 others(7): Show a0001c0001t0001g0059 a0001c0002t0001g0068 a0001c0002t0001g0151 a0001c0010t0001g0085 a0001c0010t0001g0086 a0001c0010t0001g0087 a0001c0010t0001g0089 a0001c0026t0014g0052 a0001c0039t0006g0001 a0001c0040t0007g0002	10	183	0.0546	-128	c.239 others(19): Show c.239-18752_239-18625del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GATA5_chr20_62458497_62480995	62476908	TCTTTCTT others(121): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTT CTTTCTTTTTTCTTTCTCGGAGCACACCGGGTGGACCCAGGCTTGGCGGC CATGAAAGTTCTTTTTTCTTTCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 NA19043.hp1 HG03942.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0002c0005t0001 a0001c0001t0003 a0002c0005t0001	a0001c0001t0003g0269 a0002c0005t0001g0009 a0001c0001t0003g0269 a0002c0005t0001g0009	2	382	0.0052	-128	c.-11 others(11): Show c.-1128_-1001del	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		914		chr20	TogoVar
GATA5_chr20_62458497_62480995	62476934	TTTCTTTC others(121): Show TTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTTTCTTTCTCGGAGCACA CCGGGTGGACCCAGGCTTGGCGGCCATGAAAGTTCTTTTTTCTTTCTTCC TTCCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0007 a0001c0019t0007	a0001c0019t0007g0284 a0001c0019t0007g0284	1	382	0.0026	-128	c.-11 others(11): Show c.-1154_-1027del	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		940		chr20	TogoVar
GNG12_chr1_67696475_67838467	67710052	ATATATAT others(121): Show ATATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAG TTATATATATAGTTATATATATAGTTATATATATAGTTATATATATATAG TTATATATATATAGTTATATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01168.hp2 HG00558.hp1 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0143 a0001c0001t0002g0078 a0001c0001t0002g0143	2	274	0.0073	-128	c.-26 others(17): Show c.-26-2468_-26-2341del	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar
GNG12_chr1_67696475_67838467	67710078	ATATATAT others(121): Show ATATATATATAGTTATATATATAGTTATATATATAGTTATATATATAGTT ATATATATAGTTATATATATATAGTTATATATATATAGTTATATATATAT AGTTATATATATAGTTATATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01515.hp2 HG02080.hp2 others(10): Show HG01358.hp2 HG01515.hp2 HG02080.hp2 HG02132.hp2 HG02135.hp1 NA18966.hp2 NA18971.hp2 NA19012.hp1 NA19057.hp1 NA19060.hp1 NA19070.hp1 NA19074.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0035 a0001c0001t0002g0069 a0001c0001t0002g0070 others(10): Show a0001c0001t0002g0035 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0145 a0001c0001t0002g0155 a0001c0001t0002g0243 a0001c0001t0017g0108 a0001c0001t0017g0109	13	274	0.0475	-128	c.-26 others(17): Show c.-26-2494_-26-2367del	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar
GPAA1_chr8_144077634_144091216	144089577	TATATATA others(121): Show TATATATATATGTATATACATATATATATATATATATACATATATATATA TATACATATATATATATATACATATATATATATATATATATACATATATA TATGTATATACATATATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0010 a0005c0005t0001g0010	1	338	0.0030	-128	c.34 others(11): Show c.3453_*3580del	GPAA1	ENSG00000197858.12	transcript	ENST00000355091.9	protein_coding		3362		chr8	TogoVar
GRIN2A_chr16_9748408_10187428	9848683	TTTTAAAT others(121): Show TTTTAAATATATAAAATACACTGTTTTATAATATTTTAAATATATAAAAT ACACTGTTTTATAATATTTTAAATATATAAAATACACTGTTTTATATATT TAAATATATAAAATACACTGTTTTATATA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02145.hp2 HG02970.hp2 others(3): Show HG01255.hp1 HG02145.hp2 HG02970.hp2 HG03225.hp1 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(2): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0008 a0001c0006t0069	a0001c0003t0001g0071 a0001c0003t0002g0015 a0001c0003t0002g0049 others(3): Show a0001c0003t0001g0071 a0001c0003t0002g0015 a0001c0003t0002g0049 a0001c0003t0004g0160 a0001c0003t0008g0162 a0001c0006t0069g0164	6	168	0.0357	-128	c.132 others(18): Show c.1328+945_1328+1072del	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GRK5_chr10_119202571_119464745	119427643	AGTATCAC others(121): Show AGTATCACCTCCATCATCAGCATCACTGCTGTTATCAATATCCCAGTGCC ATCAACAGCATCACCACCATCATTAGTATCACCACCATCGTCAACATCAC TGCCATCATCAGTATTACCACCATCAGCG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0023 a0001c0001t0033g0023	1	202	0.0050	-128	c.533 others(17): Show c.533+2560_534-2603del	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
GRP_chr18_59215158_59235771	59234257	AACATATT others(121): Show AACATATTATACATACCATGGTATATATATAATATAACATATTATACATA CCATGGTATATATATAATATAACATATTATACATACCATGGTATATATAT AATATAACATATTATACATACCATGGTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG03225.hp2 others(1): Show HG02257.hp2 HG02572.hp2 HG03225.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 others(1): Show a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0131	4	408	0.0098	-128	c.37 others(11): Show c.3790_*3917del	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3487		chr18	TogoVar
GSG1L_chr16_27782528_28068714	27805235	GGGGTGGG others(121): Show GGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGGTGGGGGGAGGGCT GTGGGCACTGGGATTGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGG GTGGGGGGAGGGCTGTGGGCACTGGGATT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00544.hp2 others(42): Show HG00099.hp2 HG00140.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG01074.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01884.hp1 HG01884.hp2 HG02040.hp1 HG02071.hp2 HG02258.hp2 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03098.hp2 HG03486.hp2 HG03490.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG04184.hp1 NA18522.hp1 NA18942.hp2 NA18946.hp1 NA18995.hp1 NA19010.hp1 NA19043.hp2 NA19082.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0014 a0001c0001t0027 others(5): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0002t0002 a0001c0002t0010 a0001c0004t0026	a0001c0001t0002g0027 a0001c0001t0002g0040 a0001c0001t0002g0042 others(42): Show a0001c0001t0002g0027 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0117 a0001c0001t0002g0129 a0001c0001t0002g0144 a0001c0001t0002g0159 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0208 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0014g0019 a0001c0001t0014g0020 a0001c0001t0027g0198 a0001c0001t0028g0085 a0001c0001t0030g0034 a0001c0002t0002g0041 a0001c0002t0002g0046 a0001c0002t0002g0065 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0102 a0001c0002t0002g0137 a0001c0002t0002g0149 a0001c0002t0002g0157 a0001c0002t0002g0161 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0223 a0001c0002t0002g0228 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0010g0037 a0001c0004t0026g0003	45	240	0.1875	-128	c.898 others(17): Show c.898+2124_898+2251del	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	6/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27805531	GGGGGGAG others(121): Show GGGGGGAGGGCTGTGGGCACTGGGATTGGGGTGGGGGGAGGGCTGTGGGC ACTGGGATTGGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGTGGG GGGAGGGCTGTGGGCACTGGGATTGGGGT	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	240	0.0042	-128	c.898 others(17): Show c.898+1828_898+1955del	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	6/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27805623	GGGGTGGG others(121): Show GGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGTGGGGGGAGGGCTG TGGGCACTGGGATTGGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGG GTGGGGGGAGGGCTGTGGGCACTGGGATT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03017.hp2 HG02970.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0015 a0001c0001t0001 a0001c0002t0015	a0001c0001t0001g0094 a0001c0002t0015g0178 a0001c0001t0001g0094 a0001c0002t0015g0178	2	240	0.0083	-128	c.898 others(17): Show c.898+1736_898+1863del	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	6/6			chr16	TogoVar
H1-7_chr12_48323980_48335279	48332507	CAGAGGGG others(121): Show CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 NA18961.hp1 HG00597.hp1 NA18961.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	2	424	0.0047	-128	c.24 others(11): Show c.2449_*2576del	H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding		2229		chr12	TogoVar
HDAC4_chr2_239043168_239406020	239086153	CAGTCTCT others(121): Show CAGTCTCTTCCCTGTACACGAAGGAGACTCTGCTCTAACACGCGGATCTG ACTATCTCTCACGTACAGTCTCCTCCCTGCACATGAAGGAGACTCTGCTC TAACACGCGGATCTGACTATCTCGCACGT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0029 a0001c0016t0003g0029	1	242	0.0041	-128	c.244 others(19): Show c.2444+1278_2444+1405del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	19/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239086245	CTCTGCTC others(121): Show CTCTGCTCTAACACGCGGATCTGACTATCTCGCACGTAGTCTCTTCCCTG TACACGAAGGAGACTCTGCTCTAACACGCGGATCTGACTATCTCGCACGT ACAGTCTCCTCCCTGTACATGAAGGAGAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG01081.hp1 others(12): Show HG00140.hp2 HG00544.hp1 HG01081.hp1 HG01167.hp1 HG01192.hp2 HG01346.hp2 HG01975.hp2 HG02132.hp2 HG03654.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp1 NA18983.hp1 NA18993.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0012 a0001c0027 a0001c0028	a0001c0001t0001 a0001c0001t0002 a0001c0002t0009 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0009 a0001c0006t0001 a0001c0006t0002 a0001c0006t0011 a0001c0006t0026 a0001c0006t0048 a0001c0012t0028 a0001c0012t0030 a0001c0012t0050 a0001c0027t0009 a0001c0028t0013	a0001c0001t0001g0209 a0001c0001t0002g0236 a0001c0002t0009g0185 others(12): Show a0001c0001t0001g0209 a0001c0001t0002g0236 a0001c0002t0009g0185 a0001c0006t0001g0193 a0001c0006t0002g0063 a0001c0006t0002g0191 a0001c0006t0002g0195 a0001c0006t0011g0158 a0001c0006t0026g0058 a0001c0006t0048g0060 a0001c0012t0028g0133 a0001c0012t0030g0225 a0001c0012t0050g0154 a0001c0027t0009g0148 a0001c0028t0013g0216	15	242	0.0620	-128	c.244 others(19): Show c.2444+1186_2444+1313del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	19/26			chr2	TogoVar
HSPA4_chr5_133047013_133111449	133108923	TGCCCTGT others(121): Show TGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCCGCCCAGCCAGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01106.hp2 HG01167.hp1 others(31): Show HG01074.hp2 HG01106.hp2 HG01167.hp1 HG01175.hp1 HG01258.hp1 HG01891.hp1 HG01952.hp1 HG01981.hp2 HG02040.hp1 HG02109.hp2 HG02258.hp2 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03540.hp2 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA18962.hp1 NA18979.hp1 NA19030.hp2 NA19091.hp1 NA19240.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0003 a0008c0013 a0001c0001 a0002c0003 a0008c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0049 a0002c0003t0026 a0002c0003t0046 a0002c0003t0055 a0008c0013t0003	a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0003g0126 others(31): Show a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0131 a0001c0001t0003g0350 a0001c0001t0005g0206 a0001c0001t0005g0209 a0001c0001t0005g0242 a0001c0001t0006g0243 a0001c0001t0008g0083 a0001c0001t0008g0146 a0001c0001t0008g0158 a0001c0001t0008g0161 a0001c0001t0008g0176 a0001c0001t0008g0177 a0001c0001t0008g0178 a0001c0001t0009g0154 a0001c0001t0009g0155 a0001c0001t0009g0156 a0001c0001t0009g0163 a0001c0001t0009g0174 a0001c0001t0012g0175 a0001c0001t0014g0128 a0001c0001t0015g0157 a0001c0001t0015g0165 a0001c0001t0017g0355 a0001c0001t0020g0358 a0001c0001t0049g0179 a0002c0003t0026g0153 a0002c0003t0026g0159 a0002c0003t0046g0152 a0002c0003t0055g0180 a0008c0013t0003g0129	34	364	0.0934	-128	c.44 others(11): Show c.4488_*4615del	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding		2475		chr5	TogoVar
IBA57_chr1_228160804_228187257	228174111	GGCTGTGG others(121): Show GGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCG CTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCT GTGGGCGTGGCTCGCTGTGGGCGTGGCTC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0209 a0001c0001t0047g0209	1	416	0.0024	-128	c.342 others(15): Show c.342-308_342-181del	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
IBA57_chr1_228160804_228187257	228174384	GCTGTGGG others(121): Show GCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGC TGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTG TGGGCGTGGCTCGCTGTGGGCGTGGCTCC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01168.hp2 HG02055.hp2 others(11): Show HG00735.hp1 HG01168.hp2 HG02055.hp2 HG02135.hp1 HG02155.hp1 HG02258.hp2 HG02647.hp1 HG03516.hp1 NA18939.hp2 NA18955.hp1 NA18985.hp2 NA18988.hp2 NA18998.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0002c0002	a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 others(10): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0021 a0001c0001t0044 a0001c0001t0107 a0001c0001t0121 a0001c0004t0022 a0001c0004t0137 a0001c0004t0139 a0001c0007t0048 a0002c0002t0001 a0002c0002t0003	a0001c0001t0005g0043 a0001c0001t0005g0095 a0001c0001t0007g0228 others(11): Show a0001c0001t0005g0043 a0001c0001t0005g0095 a0001c0001t0007g0228 a0001c0001t0013g0105 a0001c0001t0021g0100 a0001c0001t0044g0149 a0001c0001t0107g0070 a0001c0001t0121g0043 a0001c0004t0022g0186 a0001c0004t0137g0061 a0001c0004t0139g0061 a0001c0007t0048g0197 a0002c0002t0001g0173 a0002c0002t0003g0163	14	416	0.0337	-128	c.342 others(15): Show c.342-304_342-177del	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL19_chr1_206765773_206847981	206781867	AGTTATAT others(121): Show AGTTATATATACATATATATGTATATAGTTATATATACATATATATGTAT ATAGTTATATATACATATATATGTATATAGTTATATATACATATATATGT ATATGTTATATATACATATATATGTATAT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18946.hp2 HG02071.hp1 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0190 a0002c0002t0002g0349 a0002c0002t0002g0190 a0002c0002t0002g0349	2	366	0.0055	-128	c.-14 others(21): Show c.-149+10859_-149+10986del	IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL19_chr1_206765773_206847981	206781937	ATGTATAT others(121): Show ATGTATATAGTTATATATACATATATATGTATATGTTATATATACATATA TATGTATATGTTATATATACATATATATGTATATAGTTATATATACATAT ATATGTATATAGTTATATATACATATATG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01167.hp2 HG03579.hp1 others(8): Show HG00544.hp1 HG01167.hp2 HG03579.hp1 NA18747.hp1 NA18956.hp1 NA18961.hp2 NA18977.hp2 NA18990.hp1 NA18994.hp2 NA19058.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0002c0002t0004 a0001c0001t0003 a0002c0002t0002 a0002c0002t0004	a0001c0001t0003g0175 a0001c0001t0003g0189 a0001c0001t0003g0191 others(8): Show a0001c0001t0003g0175 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0212 a0001c0001t0003g0241 a0002c0002t0002g0181 a0002c0002t0002g0196 a0002c0002t0002g0238 a0002c0002t0004g0133	11	366	0.0301	-128	c.-14 others(21): Show c.-149+10864_-149+10991del	IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
INPP4B_chr4_142018160_142851301	142581466	GGAAATAG others(121): Show GGAAATAGATAGAAGTTCCATTTCTATCTATTAGAAATAGATAGAAGTTC CATTTCTATCTATTAGAAATAGATAGAAGTTCCATTTCTATCTATTAGAA ATAGATAGAAGTTCCATTTCTATCTATTA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0020 a0001c0001t0008g0020	1	90	0.0111	-128	c.-19 others(23): Show c.-190-118868_-190-118741del	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25			chr4	TogoVar
IQCM_chr4_149346709_149820843	149368908	ATATATAT others(121): Show ATATATATGTGTATATATATACACGTGTATATATATGTGTATATATATAC ACGTGTATATATATATGTGTATATATATACACGTGTATATATATATATAT ACACGTGTATATATATATATATACATGTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02622.hp2 others(10): Show HG01243.hp2 HG01884.hp1 HG02622.hp2 HG02723.hp2 HG04199.hp1 NA18962.hp2 NA18970.hp2 NA18980.hp1 NA18983.hp2 NA18995.hp2 NA19005.hp2 NA19030.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0010 a0001c0001t0002g0028 a0001c0001t0002g0065 others(10): Show a0001c0001t0002g0010 a0001c0001t0002g0028 a0001c0001t0002g0065 a0001c0001t0002g0104 a0001c0001t0002g0108 a0001c0001t0002g0117 a0001c0001t0002g0203 a0001c0001t0002g0211 a0001c0001t0002g0236 a0001c0002t0002g0029 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245	13	252	0.0516	-128	c.139 others(21): Show c.1391-16970_1391-16843del	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IYD_chr6_150364012_150410969	150372634	ATGGGTGG others(121): Show ATGGGTGGGGTGGGGGTGGTGAGGGAACATTGTGTGTCCATGCTTATTAG ACATGTGTGTGTGGGGGTGTGTTGGGGGTGGTGAGGGAACATTGTGTGAC CATGCTTGTTATACATGTGTATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03579.hp1 HG02486.hp1 HG03579.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0069 a0004c0005t0001g0070 a0004c0005t0001g0069 a0004c0005t0001g0070	2	414	0.0048	-128	c.178 others(17): Show c.178+3461_178+3588del	IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
KATNIP_chr16_27545144_27785344	27661949	TATATATA others(121): Show TATATATACACATACATATATATATATATATATATATACACATACATATA TATATATATATATATATACACATACATATATATATATATATATACACATA CATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA20129.hp1 HG02486.hp1 NA20129.hp1	a0004 a0015 a0004 a0015	a0004c0007 a0015c0032 a0004c0007 a0015c0032	a0004c0007t0001 a0015c0032t0003 a0004c0007t0001 a0015c0032t0003	a0004c0007t0001g0074 a0015c0032t0003g0001 a0004c0007t0001g0074 a0015c0032t0003g0001	2	152	0.0132	-128	c.540 others(19): Show c.540+13222_540+13349del	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KCTD16_chr5_144165873_144490686	144280791	ATGGTGGG others(121): Show ATGGTGGGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGCAGGCGGAGGTTACAGTGAAACCCCGGTCTCTACTAA ACAAAATACAAAAAATTAGCCGGGCGTGG	A A	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0073 a0001c0001t0058g0073	1	156	0.0064	-128	c.832 others(19): Show c.832+73307_832+73434del	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KDM5B_chr1_202719495_202813421	202740049	AGCCGGGC others(121): Show AGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCA TGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0309 a0001c0002t0002g0309	1	382	0.0026	-128	c.308 others(17): Show c.3084+497_3084+624del	KDM5B	ENSG00000117139.18	transcript	ENST00000367265.9	protein_coding	20/26			chr1	TogoVar
KIF3C_chr2_25921598_25987497	25960365	ATTATTAG others(121): Show ATTATTAGCACTATCATTTTTCCAGTGAAAGCTCACAGAGGTTATATAAC CCATCCAAGGTCACATGATGGCCCCCTCAGTAACCAGGCCATATTCCTAC TATTTCTCATGATAGAATCATTATTCGTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	240	0.0042	-128	c.154 others(19): Show c.1546-4049_1546-3922del	KIF3C	ENSG00000084731.15	transcript	ENST00000264712.8	protein_coding	1/7			chr2	TogoVar
KNDC1_chr10_133155219_133231412	133220133	CCGCGCGC others(121): Show CCGCGCGCCCAGGAGAGGAGGGGCTCAGGCGGGCGCGCGCCCAGGAGAGG AGGGGCTCAGGCGGCCGCGCGCCCAGGAGAGGAGGGGCTCAGGCGGCCGC GCGCCCAGGTGAGGAGGGGCTCAGGCGGG	C C	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	332	0.0030	-128	c.501 others(16): Show c.5018+53_5018+180del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133220306	TGAGGAGG others(121): Show TGAGGAGGGGCTCAGGCGGGCGCGCGCCCAGGAGAGGAGGGGCTCAGGCG GGCGCGCGCCCAGGTGAGGAGGGGCTCAGGCGGCCGCGCGCCCAGGTGAG GAGGTGCTCAGGCGGGCGCGCGCCCAGGA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03540.hp2 others(1): Show HG02895.hp1 HG02897.hp1 HG03540.hp2 HG03579.hp1	a0006 a0007 a0006 a0007	a0006c0010 a0006c0019 a0007c0009 a0006c0010 a0006c0019 a0007c0009	a0006c0010t0001 a0006c0019t0005 a0007c0009t0001 a0006c0010t0001 a0006c0019t0005 a0007c0009t0001	a0006c0010t0001g0048 a0006c0019t0005g0277 a0006c0019t0005g0278 others(1): Show a0006c0010t0001g0048 a0006c0019t0005g0277 a0006c0019t0005g0278 a0007c0009t0001g0104	4	332	0.0121	-128	c.501 others(17): Show c.5018+213_5018+340del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KRT76_chr12_52763155_52782345	52777743	ACCACAGT others(121): Show ACCACAGTGTCCACAGGCTCCCACAGTGGCTGCGCCCGTCTCTGCCATCA TTAGGCCTTTTCTTCCAGTGGCATGTCACCTGTTCCCAACTCTTCAGAGG GCCTGGAGTGGGAGCGGAAGTGAGAGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	444	0.0023	-128	c.-58 others(9): Show c.-580_-453del	KRT76	ENSG00000185069.2	transcript	ENST00000332411.2	protein_coding		399		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409967	CGCCCCAT others(121): Show CGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGAGAGGAGCCCCTCTGCCCGGCCAGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03942.hp2 HG02559.hp1 HG03942.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0039 a0003c0003t0002g0085 a0001c0001t0002g0039 a0003c0003t0002g0085	2	370	0.0054	-128	c.-38 others(11): Show c.-3818_-3691del	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		3633		chr12	TogoVar
LAMA2_chr6_128878138_129521566	129286696	TATATATA others(121): Show TATATATAATAATATATAATATATTATATAATATATTATATAATATATAA TAATATATAATATATTATATAATATATAATAATATATAATATATTATATA ATATATAATAATATATAATATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG01074.hp2 others(4): Show HG00323.hp1 HG00609.hp1 HG01074.hp2 HG02698.hp2 NA18747.hp2 NA18973.hp1 NA19043.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0040 a0002c0054 others(3): Show a0001c0001 a0001c0040 a0002c0054 a0004c0002 a0004c0063 a0005c0015	a0001c0001t0001 a0001c0040t0002 a0002c0054t0004 others(3): Show a0001c0001t0001 a0001c0040t0002 a0002c0054t0004 a0004c0002t0002 a0004c0063t0001 a0005c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0040t0002g0080 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0040t0002g0080 a0002c0054t0004g0049 a0004c0002t0002g0021 a0004c0063t0001g0075 a0005c0015t0001g0061	7	88	0.0796	-128	c.253 others(18): Show c.2538-1115_2538-988del	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	18/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LDLRAD3_chr11_35939062_36237136	36145222	ACCCGCCA others(121): Show ACCCGCCAGCCGCCCCGTCCGGGAGGGAAGTGGGGGGGGGTCAGCCCCCC GCCCGGCCAGCTGCCCCATCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCA CCCCTACTGGGAAGTGAGGAGCCCCTCTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(40): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02523.hp2 HG02602.hp1 HG02735.hp2 HG02895.hp1 HG03669.hp2 HG03834.hp1 HG04204.hp2 NA18747.hp2 NA18945.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp2 NA18965.hp2 NA18975.hp1 NA18979.hp2 NA19002.hp1 NA19012.hp2 NA19056.hp1 NA19068.hp2 NA19079.hp2 NA19085.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0004c0010 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0017 a0002c0003t0001 a0002c0004t0001 a0002c0004t0007 a0004c0010t0001 a0007c0008t0001	a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0065 others(40): Show a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0087 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0135 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0222 a0001c0001t0002g0107 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0153 a0001c0001t0007g0053 a0001c0001t0010g0108 a0001c0001t0016g0034 a0001c0001t0019g0098 a0001c0002t0001g0081 a0001c0002t0001g0090 a0001c0002t0001g0102 a0001c0002t0001g0113 a0001c0002t0001g0130 a0001c0002t0001g0160 a0001c0002t0001g0176 a0001c0002t0001g0183 a0001c0002t0002g0026 a0001c0002t0003g0128 a0001c0002t0003g0133 a0001c0002t0017g0182 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0004t0001g0230 a0002c0004t0007g0233 a0004c0010t0001g0041 a0007c0008t0001g0032	43	236	0.1822	-128	c.454 others(19): Show c.454+46766_454+46893del	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
LIPG_chr18_49557057_49604185	49577810	CCCTCCCG others(121): Show CCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCT CCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGTGGGCGGGCAGAGGCGCCCCTCA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03579.hp2 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0085 a0001c0001t0084 a0001c0001t0085	a0001c0001t0084g0258 a0001c0001t0085g0263 a0001c0001t0084g0258 a0001c0001t0085g0263	2	384	0.0052	-128	c.793 others(17): Show c.793+2226_793+2353del	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMOD1_chr1_201891456_201951548	201901562	ATGTATAT others(121): Show ATGTATATATATATATATATATACATATATATATGTATATATATATATAC ACATATATATGTGTGTGTGTATATATATATATATATACATATATATGTGT ATATATATATATACACATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0292 a0003c0003t0001g0292	1	400	0.0025	-128	c.262 others(15): Show c.262-939_262-812del	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding	1/2			chr1	TogoVar
LPCAT1_chr5_1456427_1528960	1482505	GTGGGGTG others(121): Show GTGGGGTGGGCTGGGGTGGGGTGGGGTGGGGCAGAGCCAGGGCAGGGTGG GGTGGGGTAGGGTGGGGCAGAGCCAGGGCAGGGTGGGGTGGGGTAGGGTG GGGCAGAGCCAGGGCAGGCTGGGGTGGGC	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0256 a0001c0007t0004g0256	1	386	0.0026	-128	c.726 others(15): Show c.726+795_726+922del	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	6/13			chr5	TogoVar
LPP_chr3_188149157_188895671	188784815	CATATATA others(121): Show CATATATATATATTCCATCATATATATATATTCCATCATATATATATATT CCATCATATATATATATTCCATCATATATATATATTCCATCATATATATA TATTCCATCATATATATATATTCCATCAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02738.hp2 HG01074.hp2 HG02738.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0041 a0001c0006t0066 a0001c0006t0041 a0001c0006t0066	a0001c0006t0041g0002 a0001c0006t0066g0021 a0001c0006t0041g0002 a0001c0006t0066g0021	2	76	0.0263	-128	c.141 others(21): Show c.1410+24544_1410+24671del	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRBA_chr4_150259435_151020284	150420449	AATATATA others(121): Show AATATATAAAGTATATATAATACACATTATAATATATATAAAGTATATAT AATACACATTATAATATATATAAAGTATATATAATACACATTATAATATA TATAAAGTATATATAATACACATTATAAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03491.hp2 HG03516.hp2 others(2): Show HG02055.hp2 HG03491.hp2 HG03516.hp2 HG03579.hp2 NA19084.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0018 a0001c0001 a0010c0018	a0001c0001t0001 a0010c0018t0001 a0001c0001t0001 a0010c0018t0001	a0001c0001t0001g0068 a0001c0001t0001g0117 a0001c0001t0001g0120 others(2): Show a0001c0001t0001g0068 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0122 a0010c0018t0001g0126	5	180	0.0278	-128	c.704 others(19): Show c.7042-4987_7042-4860del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	46/56			chr4	TogoVar
LRCH2_chrX_115105616_115239096	115125406	CATATATA others(121): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01169.hp2 HG02622.hp2 others(11): Show HG01106.hp1 HG01169.hp2 HG02622.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG03453.hp2 HG03486.hp2 HG04184.hp1 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0069 a0001c0001t0002g0195 a0001c0001t0002g0196 others(11): Show a0001c0001t0001g0069 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0003g0024 a0001c0001t0003g0027 a0001c0001t0003g0034 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0204	14	238	0.0588	-128	c.179 others(19): Show c.1791+1309_1792-1405del	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20			chrX	TogoVar
LRCH2_chrX_115105616_115239096	115125446	TATATATA others(121): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18998.hp2 NA19005.hp1 others(1): Show HG00735.hp1 NA18998.hp2 NA19005.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 others(1): Show a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0232	4	238	0.0168	-128	c.179 others(19): Show c.1791+1269_1791+1396del	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20			chrX	TogoVar
LRRK2_chr12_40219997_40374285	40247620	GTATATAA others(121): Show GTATATAAATATACATATTTATACACAGATGTATATAAATATACAAATAT AAATATATACATTTATATATAAATATACATATTTATACACAGATGTATAT AAATATACAAATATAAATATATACATTTA	G G	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18979.hp1 NA18983.hp1 NA18612.hp2 NA18979.hp1 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0001 a0001c0008 a0002c0001	a0001c0008t0003 a0002c0001t0001 a0001c0008t0003 a0002c0001t0001	a0001c0008t0003g0092 a0002c0001t0001g0043 a0002c0001t0001g0075 a0001c0008t0003g0092 a0002c0001t0001g0043 a0002c0001t0001g0075	3	382	0.0079	-128	c.839 others(17): Show c.839-2129_839-2002del	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50		INFO_REALIGN_3_PRIME	chr12	TogoVar
LYPLA1_chr8_54041367_54106947	54076147	TAAATGCT others(121): Show TAAATGCTCTTAATAAGATCAAAATTTGGGAAAGAATAAAAAAGCATCTA GAAGGACACCCTACAAACTTGTCTTTGGATATTGCAAAATTAAAAGAACA AATATTTAAAGCATCCCAGGCACACCTGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	306	0.0033	-128	c.102 others(19): Show c.102-10462_102-10335del	LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8			chr8	TogoVar
MAD1L1_chr7_1810795_2237945	1845422	ACTCTGGT others(121): Show ACTCTGGTTCACGGGGAAGAGCGCTGTTTAGGAGATGGACGTGCTCCACG CAGAGACGCGTCGGGCTCTGATTCATGGGGAAGAGCTCTGTTTAGGAGAT GGACGTGCTCCACGCAGACACGCGTCCGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	264	0.0038	-128	c.199 others(21): Show c.1999-29322_1999-29195del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1845457	TGGACGTG others(121): Show TGGACGTGCTCCACGCAGAGACGCGTCGGGCTCTGATTCATGGGGAAGAG CTCTGTTTAGGAGATGGACGTGCTCCACGCAGACACGCGTCCGGCTCTGG TTCACGGGGAAGAGCGCTGTTTAGGAGAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(92): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01255.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02080.hp1 HG02109.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18942.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18967.hp1 NA18969.hp1 NA18973.hp2 NA18975.hp2 NA18981.hp2 NA18985.hp1 NA18990.hp2 NA18995.hp1 NA19009.hp2 NA19056.hp1 NA19064.hp2 NA19065.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010 a0001c0013 a0002c0002 a0002c0005 a0002c0009 a0002c0012 a0003c0014	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0003t0001 a0001c0003t0007 a0001c0004t0001 a0001c0010t0001 a0001c0013t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0005t0001 a0002c0009t0001 a0002c0012t0001 a0003c0014t0001	a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0090 others(92): Show a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0197 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0001g0255 a0001c0001t0005g0137 a0001c0001t0005g0222 a0001c0001t0007g0144 a0001c0001t0009g0247 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0007g0135 a0001c0004t0001g0205 a0001c0010t0001g0084 a0001c0013t0001g0076 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0075 a0002c0002t0001g0176 a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0010g0264 a0002c0005t0001g0086 a0002c0005t0001g0104 a0002c0005t0001g0110 a0002c0005t0001g0120 a0002c0005t0001g0192 a0002c0005t0001g0203 a0002c0005t0001g0213 a0002c0005t0001g0215 a0002c0009t0001g0096 a0002c0012t0001g0044 a0003c0014t0001g0067	95	264	0.3599	-128	c.199 others(21): Show c.1999-29357_1999-29230del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAP3K15_chrX_19355059_19520508	19452231	AAGAGAAG others(121): Show AAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG AAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG AAGAGAAGAGAAGAGAAGAGAAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0018 a0018	a0018c0014 a0018c0014	a0018c0014t0001 a0018c0014t0001	a0018c0014t0001g0025 a0018c0014t0001g0025	1	163	0.0061	-128	c.995 others(17): Show c.995+4554_995+4681del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MB21D2_chr3_192791815_192922856	192878074	TCCTCCTC others(121): Show TCCTCCTCTTTTTTTTTTTTTTTTTTTTGGTTTTTTTTGTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCCTCGCGGGTTCACGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp1 HG03209.hp1 others(1): Show HG01109.hp2 HG01255.hp1 HG03209.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0014	a0001c0001t0001g0169 a0001c0001t0005g0108 a0001c0001t0011g0154 others(1): Show a0001c0001t0001g0169 a0001c0001t0005g0108 a0001c0001t0011g0154 a0001c0001t0014g0259	4	298	0.0134	-128	c.211 others(19): Show c.211+39428_211+39555del	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MBOAT7_chr19_54168415_54194580	54181845	GGGAGGGA others(121): Show GGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAG GAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGA AGGAAGGAGGGAGGGAAGGAGGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	373	0.0027	-128	c.494 others(15): Show c.494-840_494-713del	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7			chr19	TogoVar

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