Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MYT1_chr20_64159452_64247253	64175795	GTAGTTGT others(140): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	223	0.0045	-147	c.-99 others(19): Show c.-99+11171_-99+11317del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NDUFS7_chr19_1378907_1400584	1379772	ACCCCCTT others(140): Show ACCCCCTTCACTGAGCCGCAGAGACCCCCATGTCCCTGCCAATGCTTTTT CCGAAGCCGGTCTCACTTGTTCCCGCCCTGGCAGTGTGAGGGGAATTGGG GTCCCCCCTCAGTGGCACAGCTGTGCCTGTCTGATGACTTCCACCAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0122 a0002c0002t0005g0122	1	418	0.0024	-147	c.-41 others(11): Show c.-4154_-4008del	NDUFS7	ENSG00000115286.21	transcript	ENST00000233627.14	protein_coding		4134		chr19	TogoVar
NDUFS7_chr19_1378907_1400584	1379813	ATGCTTTT others(140): Show ATGCTTTTTCCGAAGCCGGTCTCACTTGTTCCCGCCCTGGCAGTGTGAGG GGAATTGGGGTCCCCCCTCAGTGGCACAGCTGTGCCTGTCTGATGACTTC CACCAAGCCCCCTTCACTGAGCTGCAGAGACCCCCATGTCCCTGCCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG03195.hp1 others(4): Show HG01109.hp1 HG01884.hp1 HG03195.hp1 HG03209.hp2 HG03540.hp2 HG06807.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0019 a0001c0001t0003g0183 a0002c0002t0001g0009 others(3): Show a0001c0001t0003g0019 a0001c0001t0003g0183 a0002c0002t0001g0009 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0123	7	418	0.0168	-147	c.-41 others(11): Show c.-4113_-3967del	NDUFS7	ENSG00000115286.21	transcript	ENST00000233627.14	protein_coding		4093		chr19	TogoVar
NFATC1_chr18_79390930_79534323	79532138	GTCCGCCT others(140): Show GTCCGCCTGCAGTCCCCGTGGCTGTCCCCTGTGCCTGCGTGCAGCACCCC TCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0300 a0001c0004t0002g0301 a0001c0004t0002g0300 a0001c0004t0002g0301	2	322	0.0062	-147	c.45 others(11): Show c.4562_*4708del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2816		chr18	TogoVar
NUF2_chr1_163316954_163360759	163358930	TGGGGAAA others(140): Show TGGGGAAATTAATACTCTGCAGAAGCAAATGGCCTCATGGTATGTGGCAT GTGGTGAAGCCTGACCTTAAAGGAAATACTGTGCAGACACAGACTTTAGT TATCACTTATGAGTTCAGGTACTTAGCTATATGTAGAGAAAATATTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	400	0.0025	-147	c.34 others(11): Show c.3462_*3608del	NUF2	ENSG00000143228.13	transcript	ENST00000271452.8	protein_coding		3172		chr1	TogoVar
OXCT1_chr5_41725065_41875425	41758425	CTTGGTAC others(140): Show CTTGGTACCAAAGATTCAGATGGCACCTTAGAAGGCTGCAGAGCAGAGGG CATTATAAAGAGTTCTGGAGGGAACCCATAAAGGAAGGAATGGGGAATCT ATCTATGGATACAAGTGGTGGAGGGAGCCACTGAGTGAAAAATAGTAG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp2 HG02809.hp1 others(2): Show HG02280.hp1 HG02647.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 others(2): Show a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155	5	200	0.0250	-147	c.133 others(19): Show c.1338+3539_1338+3685del	OXCT1	ENSG00000083720.13	transcript	ENST00000196371.10	protein_coding	14/16			chr5	TogoVar
PAQR5_chr15_69293912_69412780	69300571	CTCTTTCT others(140): Show CTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCATTC TTTCTCTTCCTTCCTCCCTCCCTCTCTCTCTCTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp1 HG02622.hp1 others(9): Show HG02145.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02886.hp2 HG02922.hp1 HG03139.hp1 HG03195.hp2 HG03516.hp2 HG03540.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0002g0122 others(9): Show a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0242 a0001c0001t0002g0243 a0002c0002t0001g0127	12	284	0.0423	-147	c.-27 others(19): Show c.-277+1534_-277+1680del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE11A_chr2_177618244_178077777	177946686	GGGGGGGT others(140): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03831.hp2 HG03942.hp2 HG02738.hp2 HG03831.hp2 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0033 a0002c0002t0001 a0002c0002t0004 a0001c0001t0033 a0002c0002t0001 a0002c0002t0004	a0001c0001t0033g0072 a0002c0002t0001g0073 a0002c0002t0004g0077 a0001c0001t0033g0072 a0002c0002t0001g0073 a0002c0002t0004g0077	3	170	0.0177	-147	c.107 others(21): Show c.1072-41646_1072-41500del	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PHLDB3_chr19_43470103_43509746	43507088	GACCCCCA others(140): Show GACCCCCAGCCCCTCTTCCCTCAGACCCAGGAGCCCAGACCCCCAGCCCC TCCTCCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCTTCCTTCCTCAGAC CCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0189 a0001c0006t0001g0189	1	396	0.0025	-147	c.-26 others(11): Show c.-2661_-2515del	PHLDB3	ENSG00000176531.11	transcript	ENST00000292140.10	protein_coding		2343		chr19	TogoVar
PID1_chr2_229018973_229276287	229184641	GTATATAT others(140): Show GTATATATATATCCCGTATATATATATATCCCGTATATATATATCCCGTA TATATATATATCCCGTATATATATATCCCGTATATATATATATCCCGTAT ATATATATCCCGTATATATATATATCCCGTATATATATATCCCGTATA	G G	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	256	0.0039	-147	c.31- others(17): Show c.31-28824_31-28678del	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PLCXD1_chrX_276381_308356	298009	CCACATGG others(140): Show CCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTAT CACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATC ACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01168.hp2 HG02155.hp1 others(3): Show HG00323.hp1 HG01168.hp2 HG02155.hp1 HG02723.hp1 NA18950.hp2 NA18991.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0010c0008	a0001c0001t0001 a0001c0001t0068 a0001c0001t0079 others(3): Show a0001c0001t0001 a0001c0001t0068 a0001c0001t0079 a0001c0003t0060 a0001c0006t0003 a0010c0008t0077	a0001c0001t0001g0158 a0001c0001t0068g0034 a0001c0001t0079g0001 others(3): Show a0001c0001t0001g0158 a0001c0001t0068g0034 a0001c0001t0079g0001 a0001c0003t0060g0051 a0001c0006t0003g0118 a0010c0008t0077g0072	6	176	0.0341	-147	c.734 others(16): Show c.734-1040_734-894del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298190	ACATTATT others(140): Show ACATTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGA CATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGAC ATTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGC	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0084 a0001c0001t0005g0084	1	176	0.0057	-147	c.734 others(15): Show c.734-893_734-747del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298589	TCTGTCTA others(140): Show TCTGTCTATCACATGGGGATTACGACGTGGACATCTTTGGGGACATTATT CTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTC TGTCTATCACATGGGGATCAGGACGTGGACATCTTTGGGGCCATTATC	T T	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0076 a0001c0002t0076	a0001c0002t0076g0107 a0001c0002t0076g0107	1	176	0.0057	-147	c.734 others(15): Show c.734-486_734-340del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLEKHA4_chr19_48832097_48873617	48834483	GGGGCTGA others(140): Show GGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCT GGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTC CGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0093 a0002c0002t0002g0093	1	300	0.0033	-147	c.26 others(11): Show c.2659_*2805del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2613		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834512	GGAAGTAG others(140): Show GGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCT GGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACT CCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0075 a0002c0002t0002g0075	1	300	0.0033	-147	c.26 others(11): Show c.2630_*2776del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2584		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834750	AGCCTGGA others(140): Show AGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG02630.hp1 HG00140.hp1 HG02630.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0003 a0001c0001t0001 a0004c0004t0003	a0001c0001t0001g0116 a0004c0004t0003g0256 a0001c0001t0001g0116 a0004c0004t0003g0256	2	300	0.0067	-147	c.23 others(11): Show c.2392_*2538del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2346		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834778	GGGGCTGG others(140): Show GGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTC CGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG04199.hp1 HG00733.hp1 HG00738.hp2 HG04199.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0016 a0001c0001 a0012c0016	a0001c0001t0001 a0012c0016t0001 a0001c0001t0001 a0012c0016t0001	a0001c0001t0001g0004 a0001c0001t0001g0175 a0012c0016t0001g0131 a0001c0001t0001g0004 a0001c0001t0001g0175 a0012c0016t0001g0131	3	300	0.0100	-147	c.23 others(11): Show c.2364_*2510del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2318		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834927	GGCTGGGA others(140): Show GGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCG AGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	300	0.0033	-147	c.22 others(11): Show c.2215_*2361del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2169		chr19	TogoVar
PLXDC2_chr10_19811432_20294856	20126670	ACGTTATA others(140): Show ACGTTATATATGTATATATAACACACGTTATATATGTATATATAACACAC ACGTTATATATGTATATAGAACACACACGTTATATATGTATATAGAACAC ACATGTTATATATGTATATAGAACACACGTTATATATGTATATATAAC	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0117 a0001c0001t0100g0117	1	180	0.0056	-147	c.542 others(19): Show c.542-16624_542-16478del	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13			chr10	TogoVar
POR_chr7_75910155_75991855	75952072	TGGCTGGC others(140): Show TGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC AGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCA GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02615.hp2 HG00735.hp1 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0007 a0001c0004t0001 a0001c0002t0007 a0001c0004t0001	a0001c0002t0007g0113 a0001c0004t0001g0183 a0001c0002t0007g0113 a0001c0004t0001g0183	2	278	0.0072	-147	c.-13 others(17): Show c.-13-1867_-13-1721del	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPRH_chr19_55176247_55214501	55208506	TGAGTCTG others(140): Show TGAGTCTGAGGGAAGAGGGGCTGGGGGTCTGGACTCCTGAGTCTGAGGGA GGAGGGGTTGGGGGCCTGGACTCTTGGTTTGAGGGAGGAAGGGCTGGGGG CCTGGACTCCCGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03195.hp2 HG03710.hp1 HG02451.hp2 HG03195.hp2 HG03710.hp1	a0001 a0022 a0001 a0022	a0001c0042 a0022c0049 a0022c0050 a0001c0042 a0022c0049 a0022c0050	a0001c0042t0001 a0022c0049t0001 a0022c0050t0001 a0001c0042t0001 a0022c0049t0001 a0022c0050t0001	a0001c0042t0001g0050 a0022c0049t0001g0157 a0022c0050t0001g0156 a0001c0042t0001g0050 a0022c0049t0001g0157 a0022c0050t0001g0156	3	378	0.0079	-147	c.51+ others(13): Show c.51+730_51+876del	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PWWP3A_chr19_1349959_1383429	1379772	ACCCCCTT others(140): Show ACCCCCTTCACTGAGCCGCAGAGACCCCCATGTCCCTGCCAATGCTTTTT CCGAAGCCGGTCTCACTTGTTCCCGCCCTGGCAGTGTGAGGGGAATTGGG GTCCCCCCTCAGTGGCACAGCTGTGCCTGTCTGATGACTTCCACCAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0253 a0001c0001t0006g0253	1	412	0.0024	-147	c.31 others(11): Show c.3197_*3343del	PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding		1344		chr19	TogoVar
PWWP3A_chr19_1349959_1383429	1379813	ATGCTTTT others(140): Show ATGCTTTTTCCGAAGCCGGTCTCACTTGTTCCCGCCCTGGCAGTGTGAGG GGAATTGGGGTCCCCCCTCAGTGGCACAGCTGTGCCTGTCTGATGACTTC CACCAAGCCCCCTTCACTGAGCTGCAGAGACCCCCATGTCCCTGCCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02818.hp2 others(5): Show HG01109.hp2 HG01884.hp2 HG02818.hp2 HG03195.hp2 HG03209.hp2 HG03540.hp1 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0156 a0001c0001t0004g0157 others(5): Show a0001c0001t0004g0078 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0292	8	412	0.0194	-147	c.32 others(11): Show c.3238_*3384del	PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding		1385		chr19	TogoVar
PXDN_chr2_1626887_1749515	1657743	CCCCCTCC others(140): Show CCCCCTCCTGACTGAGACCTAGTCCTTTCCTGACAGGAACCTGCCCCCTG TTGTCTGGAACCTGTCCCCACCTGACAGGCACTTGCACCCTCCAGATTGG GACCCGCCCTCTCCTGACAAGGACGTGCCCCCTCCTGACCGAAACCTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG01891.hp2 others(11): Show HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02257.hp2 HG02572.hp1 HG02630.hp2 HG02886.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0001c0012 a0001c0022 a0001c0032	a0001c0001t0014 a0001c0001t0019 a0001c0005t0004 others(7): Show a0001c0001t0014 a0001c0001t0019 a0001c0005t0004 a0001c0005t0007 a0001c0005t0024 a0001c0006t0008 a0001c0012t0016 a0001c0012t0017 a0001c0022t0014 a0001c0032t0028	a0001c0001t0014g0152 a0001c0001t0019g0242 a0001c0005t0004g0247 others(11): Show a0001c0001t0014g0152 a0001c0001t0019g0242 a0001c0005t0004g0247 a0001c0005t0007g0154 a0001c0005t0007g0155 a0001c0005t0007g0161 a0001c0005t0007g0205 a0001c0005t0007g0206 a0001c0005t0024g0203 a0001c0006t0008g0315 a0001c0012t0016g0122 a0001c0012t0017g0167 a0001c0022t0014g0047 a0001c0032t0028g0046	14	322	0.0435	-147	c.183 others(19): Show c.1837+2991_1837+3137del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	14/22			chr2	TogoVar
R3HDM4_chr19_891503_918219	891657	GGGGGCTG others(140): Show GGGGGCTGAGTGTGACGGGGAACACCTGTGGCCGAGGCGGGGCTGAGTGT GACGGGGAACACCTGTGGCCGAGGCGGGGCTGACTGACAGGGAACACCTG TGGCCGAGGCGGGGGCTGAGTGTGACGGGGAACACCTGTGGCCGAGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02055.hp2 HG02109.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0007 a0003c0006t0007	a0003c0006t0007g0080 a0003c0006t0007g0320 a0003c0006t0007g0080 a0003c0006t0007g0320	2	432	0.0046	-147	c.56 others(11): Show c.5633_*5779del	R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding		4845		chr19	TogoVar
RAB40C_chr16_585066_634268	631733	CCCACCCC others(140): Show CCCACCCCTTCACTGCCTCTCCTTCCATCCTCTCCTCCCACCCTCTCCTC CCATCCACTCCTCCCATCCACTTCTTCCATCCTCTTCTCCCACCCCGTCA CTGCCTCTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCACTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0020 a0001c0001t0032g0020	1	350	0.0029	-147	c.41 others(11): Show c.4112_*4258del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding		2466		chr16	TogoVar
RAMP1_chr2_237854623_237917106	237869111	ACCCTGCA others(140): Show ACCCTGCACTGCGTTTGTGATCCTGCCTGCTTTCCCTGGGCACGTGTTGC TGCGTGTTCACGCAGGGGAGAGGATGGGGAATTCCATATGTGACCCTGCC AGTCACAGCTGCATGGTGACTTCTTATAGCTCTGTCCCAGTCATTGCT	A A	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0335 a0001c0002t0001g0335	1	404	0.0025	-147	c.53- others(15): Show c.53-8112_53-7966del	RAMP1	ENSG00000132329.11	transcript	ENST00000254661.5	protein_coding	1/2			chr2	TogoVar
RASGEF1A_chr10_43189535_43272065	43192675	GGGCCAGT others(140): Show GGGCCAGTCCATAGCAAGCACCGACTGTGCTGACAATGAACCAGGTGCCT GCTCTGTCTGCCTTTGCTTCTTAGAAGCCTTTGCTTCACTTTTCCCAAAA GGTGCTGTGGCCTTTTGCAGAAGTGCTGCTTGGCGTCCTCGGCACCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	350	0.0029	-147	c.34 others(11): Show c.3422_*3568del	RASGEF1A	ENSG00000198915.12	transcript	ENST00000395810.6	protein_coding		1859		chr10	TogoVar
RASGEF1A_chr10_43189535_43272065	43192696	CGACTGTG others(140): Show CGACTGTGCTGACAATGAACCAGGTGCCTGCTCTGTCTGCCTTTGCTTCT TAGAAGCCTTTGCTTCACTTTTCCCAAAAGGTGCTGTGGCCTTTTGCAGA AGTGCTGCTTGGCGTCCTCGGCACCAAGGCCAGTCTACAGCGAGCACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	350	0.0029	-147	c.34 others(11): Show c.3401_*3547del	RASGEF1A	ENSG00000198915.12	transcript	ENST00000395810.6	protein_coding		1838		chr10	TogoVar
RNF213_chr17_80255852_80403794	80314082	GAGGTGAT others(140): Show GAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGATGGT GGAGGTACTGGAGGTGATGGTGGTGGTGTAGGTGATGGTGGAGGTGATGG TGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02109.hp2 HG02717.hp1	a0008 a0091 a0008 a0091	a0008c0013 a0091c0113 a0008c0013 a0091c0113	a0008c0013t0028 a0091c0113t0021 a0008c0013t0028 a0091c0113t0021	a0008c0013t0028g0250 a0091c0113t0021g0031 a0008c0013t0028g0250 a0091c0113t0021g0031	2	292	0.0069	-147	c.281 others(18): Show c.2811+950_2811+1096del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314341	TGGTGGTG others(140): Show TGGTGGTGGAGGTACTGGAGGTGATGGCGGTCGTGGAGGTGATGGTGGAG GTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGT GGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp1 others(18): Show HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG01109.hp2 HG01952.hp1 HG02004.hp1 HG02074.hp1 HG02109.hp1 HG02148.hp2 HG02273.hp1 HG02572.hp1 HG02735.hp2 HG04204.hp2 NA18522.hp1 NA19010.hp1 NA19065.hp1 NA19066.hp1	a0001 a0002 a0046 others(3): Show a0001 a0002 a0046 a0068 a0081 a0083	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0010 a0002c0060 a0046c0129 a0068c0054 a0081c0083 a0083c0084	a0001c0001t0001 a0001c0001t0002 a0001c0001t0034 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0034 a0001c0001t0054 a0001c0003t0001 a0001c0003t0002 a0001c0004t0004 a0001c0004t0014 a0001c0004t0071 a0002c0002t0014 a0002c0010t0003 a0002c0060t0005 a0046c0129t0030 a0068c0054t0008 a0081c0083t0027 a0083c0084t0031	a0001c0001t0001g0040 a0001c0001t0001g0112 a0001c0001t0001g0128 others(18): Show a0001c0001t0001g0040 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0002g0124 a0001c0001t0002g0131 a0001c0001t0002g0147 a0001c0001t0034g0086 a0001c0001t0054g0088 a0001c0003t0001g0142 a0001c0003t0002g0072 a0001c0003t0002g0266 a0001c0004t0004g0074 a0001c0004t0014g0156 a0001c0004t0071g0066 a0002c0002t0014g0120 a0002c0010t0003g0100 a0002c0060t0005g0065 a0046c0129t0030g0009 a0068c0054t0008g0121 a0081c0083t0027g0116 a0083c0084t0031g0159	21	292	0.0719	-147	c.281 others(19): Show c.2811+1179_2811+1325del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314497	TGGTGGTG others(140): Show TGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGAAGGTGATGGTG GAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTAATGGA GGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0005 a0005	a0005c0105 a0005c0105	a0005c0105t0021 a0005c0105t0021	a0005c0105t0021g0270 a0005c0105t0021g0270	1	292	0.0034	-147	c.281 others(19): Show c.2811+1334_2811+1480del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314596	AGGTGATG others(140): Show AGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCG GTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGT GGAGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG02040.hp2 others(9): Show HG00438.hp1 HG00673.hp2 HG02040.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG02818.hp1 HG03453.hp2 HG03490.hp2 NA18947.hp1 NA18975.hp1 NA19010.hp2	a0002 a0005 a0024 others(5): Show a0002 a0005 a0024 a0025 a0031 a0061 a0067 a0077	a0002c0002 a0002c0010 a0002c0121 others(7): Show a0002c0002 a0002c0010 a0002c0121 a0005c0007 a0024c0026 a0025c0038 a0031c0023 a0061c0122 a0067c0056 a0077c0081	a0002c0002t0003 a0002c0010t0004 a0002c0010t0010 others(9): Show a0002c0002t0003 a0002c0010t0004 a0002c0010t0010 a0002c0121t0004 a0005c0007t0003 a0024c0026t0007 a0025c0038t0006 a0031c0023t0006 a0031c0023t0012 a0061c0122t0004 a0067c0056t0003 a0077c0081t0002	a0002c0002t0003g0111 a0002c0010t0004g0077 a0002c0010t0010g0212 others(9): Show a0002c0002t0003g0111 a0002c0010t0004g0077 a0002c0010t0010g0212 a0002c0121t0004g0067 a0005c0007t0003g0209 a0024c0026t0007g0191 a0025c0038t0006g0013 a0031c0023t0006g0248 a0031c0023t0012g0246 a0061c0122t0004g0075 a0067c0056t0003g0152 a0077c0081t0002g0269	12	292	0.0411	-147	c.281 others(19): Show c.2811+1441_2811+1587del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314626	AGGTACTG others(140): Show AGGTACTGGAGGTGATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAG GTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTAAT GGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGAGGTGATGGT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0018 a0018	a0018c0033 a0018c0033	a0018c0033t0016 a0018c0033t0016	a0018c0033t0016g0275 a0018c0033t0016g0275	1	292	0.0034	-147	c.281 others(19): Show c.2811+1463_2811+1609del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	256127	GCGTCTGT others(140): Show GCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCT ATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAACGTGAC TACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTT	G G	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0041 a0001c0001t0015g0041	1	133	0.0075	-147	c.439 others(17): Show c.439-8989_439-8843del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256395	GCGTCTGT others(140): Show GCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCT ATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGAC TACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTT	G G	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0041 a0001c0001t0015g0041	1	133	0.0075	-147	c.439 others(17): Show c.439-9257_439-9111del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256462	GCGTCTGT others(140): Show GCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCT ATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGAC TACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTT	G G	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19074.hp2 NA19088.hp2 NA19056.hp2 NA19074.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0021 a0001c0001t0004 a0001c0001t0012 a0001c0001t0021	a0001c0001t0004g0021 a0001c0001t0012g0006 a0001c0001t0021g0077 a0001c0001t0004g0021 a0001c0001t0012g0006 a0001c0001t0021g0077	3	133	0.0226	-147	c.439 others(17): Show c.439-9324_439-9178del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80840930	GCTCACTC others(140): Show GCTCACTCTCTCTGCACCGCAGCTCACACTCACCGCACGGCAGCTCACAT TCACCACACGGCAACTCACTCTCACCACACGGCAGCTCACTCTCTCTGCA CCGCAGCTCACACTCACCGCACGGCAGCTCACATTCACCACACGGCAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp1 HG02970.hp1 others(2): Show HG02055.hp1 HG02647.hp1 HG02970.hp1 HG03139.hp2 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0011 others(2): Show a0001c0004 a0001c0006 a0001c0011 a0001c0020 a0001c0057	a0001c0004t0035 a0001c0006t0063 a0001c0011t0029 others(2): Show a0001c0004t0035 a0001c0006t0063 a0001c0011t0029 a0001c0020t0093 a0001c0057t0077	a0001c0004t0035g0004 a0001c0006t0063g0160 a0001c0011t0029g0196 others(2): Show a0001c0004t0035g0004 a0001c0006t0063g0160 a0001c0011t0029g0196 a0001c0020t0093g0034 a0001c0057t0077g0016	5	196	0.0255	-147	c.121 others(19): Show c.1212+2943_1212+3089del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80876407	CGTGCCAC others(140): Show CGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGTGTCTTCCCACCGAGCCC GTGCCACGCAGGGTGTGTGTGTCGCCTGCCGTGTCTTCCCACCGAGCCCG TGCCACGCAGGGTGTGTGTGTCGCCTGCCGTGTCTTCCCACCGAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0044 a0001c0008 a0001c0044	a0001c0008t0081 a0001c0044t0045 a0001c0008t0081 a0001c0044t0045	a0001c0008t0081g0019 a0001c0044t0045g0080 a0001c0008t0081g0019 a0001c0044t0045g0080	2	196	0.0102	-147	c.151 others(19): Show c.1510-3976_1510-3830del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTEL1_chr20_63653312_63701245	63677684	AGCCTCTT others(140): Show AGCCTCTTCCTTCGCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTG GCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGG CCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03453.hp1 HG01167.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0030 a0001c0001t0001g0031	2	60	0.0333	-147	c.920 others(15): Show c.920-448_920-302del	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTEL1_chr20_63653312_63701245	63677697	GCCTGTTG others(140): Show GCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCC CCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCC CTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01069.hp2 others(36): Show HG00642.hp1 HG00642.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0006 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0011 a0001c0012 a0004c0006 a0005c0018 a0006c0009 a0008c0013 a0009c0010 a0010c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0007t0002 a0001c0011t0002 a0001c0012t0002 a0004c0006t0001 a0005c0018t0002 a0006c0009t0002 a0008c0013t0002 a0009c0010t0001 a0010c0019t0002	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0043 others(36): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0048 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0007t0001g0032 a0001c0007t0002g0012 a0001c0011t0002g0008 a0001c0012t0002g0005 a0004c0006t0001g0036 a0004c0006t0001g0037 a0005c0018t0002g0018 a0006c0009t0002g0017 a0008c0013t0002g0015 a0009c0010t0001g0033 a0010c0019t0002g0014	39	60	0.6500	-147	c.920 others(15): Show c.920-299_920-153del	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
SBK2_chr19_55523611_55542133	55537545	GCCTCCTC others(140): Show GCCTCCTCCCTCAGACCCAGGAGTCTAGACCCCAGCCCCTCCTCCCTCAG ACCCAGGAGTCTAGGTCTCCAGCCCCTCCTCCCTCAGACCCAGGAATTCA GGTCTCCAGCCCCTCCTCCCTCAGACCTAGGAGTCCAGACCCCCAGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG03831.hp1 HG00544.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0124 a0001c0001t0003g0125	2	434	0.0046	-147	c.-64 others(9): Show c.-641_-495del	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		413		chr19	TogoVar
SBK3_chr19_55535656_55550543	55537545	GCCTCCTC others(140): Show GCCTCCTCCCTCAGACCCAGGAGTCTAGACCCCAGCCCCTCCTCCCTCAG ACCCAGGAGTCTAGGTCTCCAGCCCCTCCTCCCTCAGACCCAGGAATTCA GGTCTCCAGCCCCTCCTCCCTCAGACCTAGGAGTCCAGACCCCCAGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG03831.hp2 HG00544.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	438	0.0046	-147	c.31 others(11): Show c.3154_*3300del	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		3110		chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1288200	TCCCTGTG others(140): Show TCCCTGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTG TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCC	T T	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	290	0.0035	-147	c.166 others(17): Show c.1662+167_1662+313del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEC14L1_chr17_77135969_77222101	77215993	AGTAGGTA others(140): Show AGTAGGTAGGGTTCGTAGGTAGGGTTCGTAGGTAGGGCTAGTAGGTAGGG TTAGTAGGTAGGGCTAGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTAG GGCTAGTAGGTAGGGTTCGTAGGTAGGGTTAGTAGGTAGGGCTAGTAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp1 HG02965.hp1 HG02970.hp1 others(1): Show HG02717.hp1 HG02965.hp1 HG02970.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0015	a0001c0005t0015g0008 a0001c0005t0015g0170 a0001c0005t0015g0171 a0001c0005t0015g0008 a0001c0005t0015g0170 a0001c0005t0015g0171	4	430	0.0093	-147	c.19 others(11): Show c.1976_*2122del	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	1976	INFO_REALIGN_3_PRIME	chr17	TogoVar
SFI1_chr22_31491536_31623588	31591909	CCCCCCCC others(140): Show CCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC CCCCTCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGA	C C	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	322	0.0031	-147	c.154 others(19): Show c.1544+2351_1544+2497del	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SH3D19_chr4_151115281_151330605	151154285	ACCACACC others(140): Show ACCACACCCAGCTAATTTTTTGGATTTTTAGTAGAGATGGGGTTTCTCCA TGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGCGATCCGCCCGCCT TGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAACCATTGCGCCCGGC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp2 HG02723.hp2 others(4): Show HG02486.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG02965.hp1 HG03540.hp2 NA21309.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0016 a0011c0022 a0001c0001 a0001c0016 a0011c0022	a0001c0001t0001 a0001c0016t0013 a0011c0022t0001 a0001c0001t0001 a0001c0016t0013 a0011c0022t0001	a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 others(4): Show a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0221 a0001c0001t0001g0238 a0001c0016t0013g0145 a0011c0022t0001g0155	7	282	0.0248	-147	c.175 others(19): Show c.1755+4808_1756-4725del	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	9/19			chr4	TogoVar
SHROOM2_chrX_9781429_9954443	9947752	ACAGAAGA others(140): Show ACAGAAGATTTTTTCAGTTACTTTCCCCCCATGTATTTTGTATGCATATG ATTGTCCGTGATAATTGGCTACTTTTCCATTGTTTCCTCCTTAAATCGTT TAGCATGGCATGAGGGCCACATTCCATGGACGGGAAGACCCCTTCCTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0026 a0001c0017t0026	a0001c0017t0026g0041 a0001c0017t0026g0041	1	256	0.0039	-147	c.81 others(9): Show c.816_*962del	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	10/10	816		chrX	TogoVar
SIGIRR_chr11_400716_419999	401733	ACCCCCGA others(140): Show ACCCCCGACCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCC CCGACCCCCGGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGG CTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	242	0.0041	-147	c.40 others(11): Show c.4016_*4162del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3982		chr11	TogoVar
SLC9A3_chr5_465456_529449	512300	CGTGGACC others(140): Show CGTGGACCTTAATTAATAATGTATCAAGAATGAGCCCTAATATAAACTGT GGACCTTAATTAATAATAATGTATCAAGAACGAGCCCTAACGTAAACCGT GGACCTTAATTAATAATAATGTATCAAGAATGAGCCCTAATATAAACT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	218	0.0046	-147	c.211 others(19): Show c.211+11665_211+11811del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar

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