Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

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
ZNF316_chr7_6632318_6663279	6633407	TTACAGGC others(157): Show TTACAGGCATGAGCCACCGTGCCTGGCCTATTTTATTTTATTTTTGAGAC AGAGTTTTCCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGTT CATTGCAGCCTCAACCTCTTGGGCTCAAGCAATCCTCTCACCACAGCCTC CTGAGTAGCTGGGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA19011.hp2 NA18957.hp1 NA19011.hp2	a0001 a0024 a0001 a0024	a0001c0001 a0024c0033 a0001c0001 a0024c0033	a0001c0001t0003 a0024c0033t0014 a0001c0001t0003 a0024c0033t0014	a0001c0001t0003g0001 a0024c0033t0014g0088 a0001c0001t0003g0001 a0024c0033t0014g0088	2	422	0.0047	-164	c.-44 others(11): Show c.-4470_-4307del	ZNF316	ENSG00000205903.7	transcript	ENST00000382252.6	protein_coding		3910		chr7	TogoVar
ZNF888_chr19_52899415_52928428	52919018	CTCCCTCT others(157): Show CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CCTCTCGCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0015 a0004c0019t0015	a0004c0019t0015g0229 a0004c0019t0015g0229	1	426	0.0024	-164	c.-17 others(16): Show c.-177-245_-177-82del	ZNF888	ENSG00000213793.6	transcript	ENST00000638862.2	protein_coding	1/4			chr19	TogoVar
ACAP3_chr1_1287391_1312930	1289727	CCCCGTGT others(156): Show CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	295	0.0034	-163	c.36 others(11): Show c.3674_*3836del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2663		chr1	TogoVar
AK5_chr1_77277019_77564966	77475382	ATATATGT others(156): Show ATATATGTATATATATAATATATATGTATATATATACTATATATTATATA TATGTATATATATTATATATATACAAATATATATTATATATGTATATATA TTATATATATACAAATATATATTATATATATATGTATATATATTATATAT ATACAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01515.hp2 HG01517.hp1 others(8): Show HG00621.hp2 HG01515.hp2 HG01517.hp1 HG02080.hp2 HG02129.hp1 NA18964.hp2 NA18967.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19074.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0004c0007	a0001c0001t0001 a0001c0001t0017 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0017 a0002c0002t0002 a0002c0002t0005 a0002c0004t0002 a0004c0007t0001	a0001c0001t0001g0076 a0001c0001t0001g0100 a0001c0001t0001g0108 others(8): Show a0001c0001t0001g0076 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0201 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0017g0051 a0002c0002t0002g0203 a0002c0002t0005g0162 a0002c0004t0002g0238 a0004c0007t0001g0215	11	284	0.0387	-163	c.106 others(19): Show c.1060-7929_1060-7767del	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ASMT_chrX_1610059_1648081	1639325	CTCCTGTG others(156): Show CTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC CTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACC CATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG ACAGTGTCCCAGTG	C C	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	223	0.0045	-163	c.910 others(17): Show c.910+2808_910+2970del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640261	ATGAGGAT others(156): Show ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG CTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACA GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT CCCTCCTGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	223	0.0045	-163	c.911 others(17): Show c.911-2541_911-2379del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8			chrX	TogoVar
BDH1_chr3_197504783_197560968	197517779	CATCAGTC others(156): Show CATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAGGCTGACCC CCCCAATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAGGCTG ACCCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAG GCTGACCCCCCCCA	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0221 a0001c0001t0221	a0001c0001t0221g0137 a0001c0001t0221g0137	1	319	0.0031	-163	c.410 others(17): Show c.410-3526_410-3364del	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
CACNG7_chr19_53904278_53948950	53921553	CCCCAGGC others(156): Show CCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAG TCGTCCCCAGGTCTGGTCATTGGTGGAGTCGTCCCCAGGTCTGGTCATTG GTGGACTTGCCCCAGGTCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTC ATTGGTGGAGCTGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG02145.hp2 others(4): Show HG01109.hp1 HG01243.hp2 HG02145.hp2 HG02615.hp2 HG02717.hp1 HG03209.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0021 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0355 a0001c0001t0002g0015 a0001c0001t0006g0020 a0001c0002t0002g0019	7	364	0.0192	-163	c.424 others(17): Show c.424+6087_424+6249del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53924118	GCCCCAGG others(156): Show GCCCCAGGTCTGGTTATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGG AGTTGGTCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATT GGTGCAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGT CATTGGTGGACTTT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA19005.hp1 HG02071.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0163 a0001c0001t0001g0164	2	364	0.0055	-163	c.424 others(17): Show c.424+8627_424+8789del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMK1D_chr10_12344547_12840545	12345315	ATTTTTTT others(156): Show ATTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGT GCGATCTCGGCTTACTGCAGTCTCTGCCTCCCGGGTTCAAGCGATTCTTC TGCCTCAGCCTCCCTAGTAGTAGGGACTACAGGCTCGTGCCACCATGCCC AGCTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0054 a0001c0001t0005g0054	1	214	0.0047	-163	c.-45 others(11): Show c.-4503_-4341del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding		4231		chr10	TogoVar
CDK12_chr17_39456486_39539544	39499047	CTTTCTTT others(156): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA19000.hp2 HG00738.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0053 a0001c0001t0008g0041 a0001c0001t0003g0053 a0001c0001t0008g0041	2	260	0.0077	-163	c.242 others(19): Show c.2420-2199_2420-2037del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP299_chr4_80330730_80968750	80571589	ACTGTACC others(156): Show ACTGTACCCATCCTCAGAATTCATATGTTGAAATCCTAACCCCAAATATC ATGGTATTTGGAGACTGAGGCTTTGGGAGGTCACTAGGTTTAGATGACAT CATAAGGGTTGGGCCCTCATGATGGGATTAGTGCTCCTATTAGAAGAAAC ACCAGAGTTTGTTC	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0050	1	96	0.0104	-163	c.243 others(19): Show c.243-11500_243-11338del	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CLDN8_chr21_30209006_30221097	30210412	CATATATA others(156): Show CATATATATATATATATATATATATATATAGTCTCCCTAATTCTAATTCA AGGTACATATATATATATATATATATATATATAGTCTCCCTAATTCTAAT TCAAGGTACATATATATATATATATATAGTCTCCCTAATTCTAATTCAAG GTATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	-163	c.46 others(11): Show c.4673_*4835del	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3593		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45987813	CGGGAGTC others(156): Show CGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGG GGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTC CAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGA TGGAGGGGACGTCG	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01515.hp2 HG02895.hp1 others(2): Show HG01258.hp2 HG01515.hp2 HG02895.hp1 NA19005.hp1 NA19070.hp1	a0001 a0004 a0008 others(2): Show a0001 a0004 a0008 a0009 a0010	a0001c0001 a0004c0005 a0008c0015 others(2): Show a0001c0001 a0004c0005 a0008c0015 a0009c0014 a0010c0016	a0001c0001t0002 a0004c0005t0001 a0008c0015t0002 others(2): Show a0001c0001t0002 a0004c0005t0001 a0008c0015t0002 a0009c0014t0002 a0010c0016t0014	a0001c0001t0002g0098 a0004c0005t0001g0044 a0008c0015t0002g0089 others(2): Show a0001c0001t0002g0098 a0004c0005t0001g0044 a0008c0015t0002g0089 a0009c0014t0002g0087 a0010c0016t0014g0090	5	128	0.0391	-163	c.804 others(15): Show c.804+163_804+325del	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
CPNE7_chr16_89570758_89602246	89571036	GAGGTGAG others(156): Show GAGGTGAGCGGGGCACGGGAGGAGGTGAGCGGGGCACGGGAGGAGGTGAG CGGGGACGGGAGGAGGTGAGCGGGGACGGGAGGAGGTGAGCGGGCACGGG AGGAGGTGAGGGGCACGGGAGGAGGTGAGCGGGGCACGGGAGGAGGTGAG CGGGGCACGGGAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00621.hp2 others(33): Show HG00438.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG01074.hp1 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01975.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02717.hp2 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03579.hp2 HG03927.hp2 HG04228.hp2 NA18950.hp2 NA18979.hp2 NA18980.hp1 NA18994.hp1 NA19005.hp2 NA19010.hp1 NA19054.hp1 NA19064.hp2 NA19065.hp1 NA19084.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0009 a0001c0015 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0005t0002 a0001c0008t0001 a0001c0008t0002 a0001c0009t0001 a0001c0015t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0007 a0002c0004t0002 a0002c0004t0014	a0001c0001t0001g0318 a0001c0002t0001g0331 a0001c0002t0002g0316 others(31): Show a0001c0001t0001g0318 a0001c0002t0001g0331 a0001c0002t0002g0316 a0001c0002t0003g0143 a0001c0002t0003g0313 a0001c0002t0004g0327 a0001c0002t0010g0219 a0001c0005t0002g0072 a0001c0005t0002g0302 a0001c0005t0002g0303 a0001c0005t0002g0310 a0001c0005t0002g0323 a0001c0008t0001g0005 a0001c0008t0001g0009 a0001c0008t0002g0010 a0001c0008t0002g0015 a0001c0009t0001g0061 a0001c0015t0001g0330 a0002c0003t0002g0312 a0002c0003t0004g0306 a0002c0003t0007g0298 a0002c0004t0002g0001 a0002c0004t0002g0016 a0002c0004t0002g0301 a0002c0004t0002g0304 a0002c0004t0002g0307 a0002c0004t0002g0308 a0002c0004t0002g0309 a0002c0004t0002g0311 a0002c0004t0002g0315 a0002c0004t0002g0319 a0002c0004t0002g0324 a0002c0004t0002g0332 a0002c0004t0014g0305	36	348	0.1035	-163	c.-48 others(11): Show c.-4861_-4699del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		4721		chr16	TogoVar
DLGAP1_chr18_3491032_4460307	3820685	GGGCATCT others(156): Show GGGCATCTGACATTCATGAAAAAATCTGACAATTATGGAATAATCTCAAT GAGCTAGGGGCAGTGCCTATGTTACTTTATGTTAATCTTTGCAGCAGTTG TATAGAATAGGCATTACTATTTCCATCTTACTGCTTCAAAATTGAGATTC AAAAAGGAGAGTTA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0063 a0001c0001t0037g0063	1	80	0.0125	-163	c.958 others(17): Show c.958-6575_958-6413del	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	4/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1695308	CCTACAGA others(156): Show CCTACAGAAAGGGGGCACAGCCATGCCCGGCCCTACAGAAAGAGGGGGCA CAGCCATGCCCGGCCCTACAGAAAGAGGGGGCACAGCCTTACCCGGCCCT ACAGAAAGAGGGGGCACAGCCATGTCCGGCCCTACAGAAAGAGGGGGCAC AGCCATGCCTGGCA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18906.hp1 NA18906.hp2 others(1): Show HG02818.hp1 NA18906.hp1 NA18906.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0004c0008 a0001c0002 a0001c0003 a0004c0008	a0001c0002t0022 a0001c0002t0027 a0001c0003t0013 others(1): Show a0001c0002t0022 a0001c0002t0027 a0001c0003t0013 a0004c0008t0016	a0001c0002t0022g0034 a0001c0002t0027g0023 a0001c0003t0013g0007 others(1): Show a0001c0002t0022g0034 a0001c0002t0027g0023 a0001c0003t0013g0007 a0004c0008t0016g0029	4	40	0.1000	-163	c.279 others(19): Show c.2797-1828_2797-1666del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMXL2_chr15_51442791_51627771	51473724	TATCATAC others(156): Show TATCATACCATTTTCAAAAGTGGGATGAAAAATATATTCTGGCCATGAGG GAAGAAGAAACACACAAGGAAAATGGAATAATACTATCACATTGAAGACT AAAGGAACCTATTTTGGAGAATAAAAAAATAGAATTTAAAAACTGTGTGT ATGATTGGAATGGC	T T	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0310 a0002c0004t0001g0310	1	346	0.0029	-163	c.721 others(17): Show c.7213+457_7213+619del	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	28/43			chr15	TogoVar
DPP6_chr7_154047398_154899285	154062563	CAGGGGGG others(156): Show CAGGGGGGGGAGGCACCCTCCGCTAGGCAGGGACTGAGAGCCAACCCCTG GTTCCCCCACTGGCTCTTAGGACCCCCATCGCAGGAGGGGGAGGCACCCC CCGCGAGGGTGGGGACTGAGAGCTATCCTCTCTTCCGCACCTGGCTGTTG GTACCCCCATCGTA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0012 a0002c0008t0012	a0002c0008t0012g0001 a0002c0008t0012g0001	1	38	0.0263	-163	c.243 others(17): Show c.243+9501_243+9663del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25			chr7	TogoVar
DPP6_chr7_154047398_154899285	154062586	TAGGCAGG others(156): Show TAGGCAGGGACTGAGAGCCAACCCCTGGTTCCCCCACTGGCTCTTAGGAC CCCCATCGCAGGAGGGGGAGGCACCCCCCGCGAGGGTGGGGACTGAGAGC TATCCTCTCTTCCGCACCTGGCTGTTGGTACCCCCATCGTAGGGGGGGGG AGGCACCCTCCGCG	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02280.hp2 HG02965.hp1 others(1): Show HG01952.hp2 HG02280.hp2 HG02965.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0008 a0002c0012 others(1): Show a0001c0003 a0002c0008 a0002c0012 a0002c0022	a0001c0003t0008 a0002c0008t0006 a0002c0012t0021 others(1): Show a0001c0003t0008 a0002c0008t0006 a0002c0012t0021 a0002c0022t0023	a0001c0003t0008g0025 a0002c0008t0006g0034 a0002c0012t0021g0035 others(1): Show a0001c0003t0008g0025 a0002c0008t0006g0034 a0002c0012t0021g0035 a0002c0022t0023g0027	4	38	0.1053	-163	c.243 others(17): Show c.243+9584_243+9746del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DVL1_chr1_1330278_1354418	1351263	TGAGGAGG others(156): Show TGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGG GCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGG GGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCG ACGGGGGGAGTGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	344	0.0029	-163	c.-23 others(11): Show c.-2361_-2199del	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1846		chr1	TogoVar
ENTPD8_chr9_137429364_137446357	137440892	CCCCCCAG others(156): Show CCCCCCAGACCAGGACAGCCCCCCAGACCAGGACAGCCCCCCCAGACCAG GACACCCCCTCAGACAGAACAGTCCCCCAGACCAGGACAGCCCCCCCAGA CCAGGACAGCCCCCCAGACCAGGACAGCCCCCCCAGACCAGGACAGCCCC CCAGACCAGGACAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(61): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02148.hp1 HG02258.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0012 a0013 a0015	a0001c0001 a0001c0007 a0003c0003 others(4): Show a0001c0001 a0001c0007 a0003c0003 a0005c0008 a0012c0018 a0013c0016 a0015c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0007t0009 a0003c0003t0002 a0005c0008t0001 a0012c0018t0001 a0013c0016t0001 a0015c0012t0004	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 others(20): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0002g0135 a0001c0001t0003g0133 a0001c0001t0003g0146 a0001c0001t0004g0012 a0001c0001t0007g0141 a0001c0001t0011g0134 a0001c0007t0009g0136 a0003c0003t0002g0145 a0005c0008t0001g0042 a0012c0018t0001g0147 a0013c0016t0001g0143 a0015c0012t0004g0132	64	392	0.1633	-163	c.-21 others(15): Show c.-21+231_-21+393del	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
EPHA10_chr1_37710976_37770120	37742573	TGAGAATG others(156): Show TGAGAATGGCAGAGTGGACAGACAGAAAAAACCTAGGTCCTTGAGGACAC TTTTGAGCTGCTGAATGAACCAAGCTTTAACTCTAGCCCTCTTATGTGAG CTAAGAAATCATTTAAGTTAAAGTCAGTTAGGGCCCAGCACTGTGGCTCA TGCCTATAATCCCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00558.hp2 others(135): Show HG00099.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01975.hp2 HG02004.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03669.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18944.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19030.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0015 a0016 a0018 a0020 a0027 a0031	a0001c0001 a0001c0005 a0001c0006 others(19): Show a0001c0001 a0001c0005 a0001c0006 a0001c0020 a0001c0033 a0001c0037 a0001c0042 a0002c0002 a0002c0015 a0003c0008 a0003c0024 a0003c0025 a0004c0003 a0005c0010 a0006c0009 a0011c0021 a0015c0047 a0016c0045 a0018c0043 a0020c0023 a0027c0035 a0031c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0005t0004 a0001c0006t0007 a0001c0006t0009 a0001c0020t0002 a0001c0033t0002 a0001c0037t0004 a0001c0042t0001 a0002c0002t0001 a0002c0015t0007 a0003c0008t0006 a0003c0024t0006 a0003c0025t0006 a0004c0003t0003 a0005c0010t0002 a0006c0009t0003 a0011c0021t0002 a0015c0047t0001 a0016c0045t0003 a0018c0043t0003 a0020c0023t0006 a0027c0035t0001 a0031c0022t0001	a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0097 others(130): Show a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0220 a0001c0001t0001g0305 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0039 a0001c0001t0002g0046 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0114 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0134 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0214 a0001c0001t0002g0219 a0001c0001t0004g0150 a0001c0005t0004g0007 a0001c0005t0004g0056 a0001c0005t0004g0099 a0001c0005t0004g0106 a0001c0005t0004g0108 a0001c0005t0004g0110 a0001c0005t0004g0132 a0001c0005t0004g0137 a0001c0005t0004g0140 a0001c0005t0004g0183 a0001c0006t0007g0201 a0001c0006t0009g0208 a0001c0020t0002g0170 a0001c0020t0002g0171 a0001c0033t0002g0287 a0001c0037t0004g0130 a0001c0042t0001g0207 a0002c0002t0001g0240 a0002c0015t0007g0040 a0003c0008t0006g0317 a0003c0008t0006g0318 a0003c0024t0006g0363 a0003c0025t0006g0361 a0004c0003t0003g0008 a0004c0003t0003g0188 a0004c0003t0003g0190 a0004c0003t0003g0192 a0004c0003t0003g0193 a0004c0003t0003g0197 a0004c0003t0003g0198 a0004c0003t0003g0200 a0004c0003t0003g0204 a0004c0003t0003g0205 a0004c0003t0003g0209 a0004c0003t0003g0213 a0004c0003t0003g0215 a0004c0003t0003g0216 a0004c0003t0003g0224 a0005c0010t0002g0111 a0005c0010t0002g0129 a0005c0010t0002g0133 a0005c0010t0002g0148 a0005c0010t0002g0149 a0006c0009t0003g0045 a0006c0009t0003g0048 a0006c0009t0003g0100 a0006c0009t0003g0145 a0006c0009t0003g0194 a0011c0021t0002g0105 a0011c0021t0002g0107 a0015c0047t0001g0314 a0016c0045t0003g0123 a0018c0043t0003g0212 a0020c0023t0006g0362 a0027c0035t0001g0210 a0031c0022t0001g0124	138	382	0.3613	-163	c.135 others(19): Show c.1358-7346_1358-7184del	EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding	5/16			chr1	TogoVar
ERICH1_chr8_659200_736224	675569	GTGAGGAC others(156): Show GTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGG CGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	378	0.0027	-163	c.305 others(17): Show c.305-1685_305-1523del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675598	CGAGGACA others(156): Show CGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCC CTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGGCCCCTCGT	C C	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0131 a0006c0008t0001g0131	1	378	0.0027	-163	c.305 others(17): Show c.305-1714_305-1552del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675679	GTGAGGAC others(156): Show GTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGA CGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0002 a0008c0016t0002	a0008c0016t0002g0326 a0008c0016t0002g0326	1	378	0.0027	-163	c.305 others(17): Show c.305-1795_305-1633del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675817	CGAGGACA others(156): Show CGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCG CGGCGGCCCCTCGT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	378	0.0027	-163	c.305 others(17): Show c.305-1933_305-1771del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675841	TCGTGAGG others(156): Show TCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGC CCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGC GGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAG ACGCGGCGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA18906.hp1 HG01071.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0134 a0001c0001t0001g0010 a0001c0001t0001g0134	2	378	0.0053	-163	c.305 others(17): Show c.305-1957_305-1795del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EVI5L_chr19_7825218_7869976	7825865	AATGGTGT others(156): Show AATGGTGTGGCTACTGCAGAAAACAGGCTGGTGGTTCCTCAAAAAGCTAA ACATAGGGCCAGGCATGGTGGCTCATACCTGTAATCCCAGCACTTTGGGA GGACAGGCAGTGGATCACCCGAGGTCAGGAGTTCTAGACCAGCCTGGCCA ACATGGTGAAACCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	396	0.0025	-163	c.-45 others(11): Show c.-4563_-4401del	EVI5L	ENSG00000142459.9	transcript	ENST00000538904.7	protein_coding		4352		chr19	TogoVar
EXOC2_chr6_480154_698139	676592	ACATTACG others(156): Show ACATTACGGAAAGGACAGGTTCCTCTGGTGACTCTGCGGTTCCCCATACT CTTCAACATTACGGAAAGGATAGGTTCCTCTGGTGACTCTGCGGTTCCCC ATACTCTTCAACATTACGGAAAGGACAGGTTCCTCTGGAGACTGTGGTTT CCCATACTCTTCAG	A A	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0258 a0001c0001t0005g0258	1	272	0.0037	-163	c.-44 others(19): Show c.-44+16264_-44+16426del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC4_chr7_133248078_134070761	133857162	ATATATAT others(156): Show ATATATATATATATATATATATATATATATATATATATATTTTACCTCTA CTTAACCTCCCTGGATGATTGTCTTAGTGTCACATATATATATATATATA TATATATATATACACGTATATATATATATATATATACACGTATATATATA TATATATATACACG	A A	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	102	0.0098	-163	c.173 others(21): Show c.1735-38397_1735-38235del	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
FHAD1_chr1_15242223_15403328	15359832	CCCAGCTA others(156): Show CCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGTGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGAC AGAGAGAGACTCCGTCTCAAGAAAAAAAAAAATTAGCTGAGTGTGTTGGC GCACACCTGTAGTT	C C	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0008 a0013c0021t0008	a0013c0021t0008g0136 a0013c0021t0008g0136	1	294	0.0034	-163	c.273 others(17): Show c.2737-614_2737-452del	FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	21/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
GAL3ST2_chr2_241771822_241809287	241807487	ACCTTCCC others(156): Show ACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCT CTGCAGGCCACCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0039 a0003c0003t0001g0039	1	314	0.0032	-163	c.33 others(11): Show c.3322_*3484del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3201		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807604	CCTTCCCT others(156): Show CCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	314	0.0032	-163	c.34 others(11): Show c.3439_*3601del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3318		chr2	TogoVar
GRHL2_chr8_101487439_101674726	101623358	GTAGGACA others(156): Show GTAGGACAGTTCACAGTAAGACAGTTCACGGTACCCAGTAGGACAGTACA CAGTAGAACAGTTCACAGTGCACAGTAGGACAGTACACAGTAGGGCAGTT TACAGTACACAGTAGGACAGTTCACAGTAAGACAGTTCACAGTACACAGT AGGACAGTACACAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02132.hp1 HG02132.hp2 others(34): Show HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18942.hp2 NA18951.hp1 NA18961.hp1 NA18986.hp1 NA18989.hp2 NA18995.hp2 NA19005.hp1 NA19043.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0046 a0001c0001t0048 a0001c0001t0050 a0001c0002t0004 a0001c0005t0013 a0003c0004t0002 a0003c0004t0012	a0001c0001t0001g0103 a0001c0001t0001g0266 a0001c0001t0004g0025 others(34): Show a0001c0001t0001g0103 a0001c0001t0001g0266 a0001c0001t0004g0025 a0001c0001t0004g0082 a0001c0001t0004g0102 a0001c0001t0004g0117 a0001c0001t0004g0179 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0005g0028 a0001c0001t0008g0030 a0001c0001t0008g0037 a0001c0001t0008g0038 a0001c0001t0008g0123 a0001c0001t0008g0174 a0001c0001t0013g0091 a0001c0001t0013g0121 a0001c0001t0013g0122 a0001c0001t0015g0017 a0001c0001t0027g0026 a0001c0001t0027g0263 a0001c0001t0028g0197 a0001c0001t0030g0119 a0001c0001t0030g0200 a0001c0001t0046g0045 a0001c0001t0048g0229 a0001c0001t0050g0190 a0001c0002t0004g0112 a0001c0005t0013g0198 a0003c0004t0002g0089 a0003c0004t0002g0092 a0003c0004t0002g0098 a0003c0004t0002g0127 a0003c0004t0002g0176 a0003c0004t0002g0186 a0003c0004t0002g0219 a0003c0004t0012g0070	37	306	0.1209	-163	c.125 others(19): Show c.1257+3741_1257+3903del	GRHL2	ENSG00000083307.12	transcript	ENST00000646743.1	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
GRHL2_chr8_101487439_101674726	101623438	CAGTACAC others(156): Show CAGTACACAGTAGGGCAGTTTACAGTACACAGTAGGACAGTTCACAGTAA GACAGTTCACAGTACACAGTAGGACAGTACACAATAGGACAGTTCACAGT AAGACAGTTCACGGTACCCAGTAGGACAGTACACAGTAGAACAGTTCACA GTGCACAGTAGGAT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0055 a0001c0001t0029g0055	1	306	0.0033	-163	c.125 others(19): Show c.1257+3819_1257+3981del	GRHL2	ENSG00000083307.12	transcript	ENST00000646743.1	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
IL12RB2_chr1_67302873_67403724	67342777	TGAGACAG others(156): Show TGAGACAGGGTGTCATTCTGTCCCCCAGGCTGAAGTGTGGTGGCACAATC TCAGCTCACTGCAGCCTTCACCTCCTATGCTCAAGTGATCCTCCCACCTC AGCCTCCCAAGTAGCTGAGACTACAGGCATCCATCACCACGCCCAGCTAA TTTTTGTTTGTCAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0016 a0009c0015t0016	a0009c0015t0016g0328 a0009c0015t0016g0328	1	346	0.0029	-163	c.103 others(19): Show c.1038+4075_1038+4237del	IL12RB2	ENSG00000081985.14	transcript	ENST00000674203.2	protein_coding	9/16			chr1	TogoVar
KLK7_chr19_50971468_50988917	50975482	TCGTGGGG others(156): Show TCGTGGGGGCAGGCCTGCACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGC TGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGAGTCTGGAT TCCTGGGTCTGAGGGAGGAGGGGCTGGGGTTCTGGACTCCTGGGTCTGAG GGAGGAGGGGCTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0131 a0001c0001t0006g0131	1	384	0.0026	-163	c.18 others(11): Show c.1891_*2053del	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding		985		chr19	TogoVar
LAMA4_chr6_112102931_112259567	112109644	CTTCCTGG others(156): Show CTTCCTGGTAAAAGTATACATATTTGCTCATATCATCAATATGATTTACA TTTCAAAAATAGAACATAGTTATAATTGACTCATTTCTCAGTAACATTAT TTGCTTGTGAAGTCCTATGGACATGTGGTAATTTTAACGTTTTGCCATGT TTTCCATGATCACA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02109.hp2 others(11): Show HG01891.hp1 HG02055.hp1 HG02109.hp2 HG02257.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02886.hp2 HG02922.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 NA20300.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0011 a0001c0023 a0001c0051 others(1): Show a0001c0011 a0001c0023 a0001c0051 a0004c0057	a0001c0011t0003 a0001c0023t0003 a0001c0051t0003 others(1): Show a0001c0011t0003 a0001c0023t0003 a0001c0051t0003 a0004c0057t0003	a0001c0011t0003g0009 a0001c0011t0003g0062 a0001c0011t0003g0154 others(11): Show a0001c0011t0003g0009 a0001c0011t0003g0062 a0001c0011t0003g0154 a0001c0011t0003g0156 a0001c0011t0003g0159 a0001c0011t0003g0236 a0001c0011t0003g0255 a0001c0011t0003g0293 a0001c0011t0003g0298 a0001c0011t0003g0313 a0001c0023t0003g0302 a0001c0023t0003g0306 a0001c0051t0003g0314 a0004c0057t0003g0017	14	314	0.0446	-163	c.532 others(16): Show c.5327-225_5327-63del	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	38/38			chr6	TogoVar
MAP3K15_chrX_19355059_19520508	19452223	GAGAAGAG others(156): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAGAGAAGAGAAGAGAAGAGA AGAGAGAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0001 a0016c0015t0001	a0016c0015t0001g0096 a0016c0015t0001g0096	1	163	0.0061	-163	c.995 others(17): Show c.995+4527_995+4689del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAPK1_chr22_21754657_21872645	21814451	AACTGTGT others(156): Show AACTGTGTACTTAAAAATGATTAAGATGGCAAATTGTATGCTTTTTACCA AAACATATAATTAACCAAAACAATTTTACTTTGTAAAGAGATGAAGTCTC GGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAAGCTGA GGTGGGTGGATCAC	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	348	0.0029	-163	c.120 others(17): Show c.120-6768_120-6606del	MAPK1	ENSG00000100030.15	transcript	ENST00000215832.11	protein_coding	1/8			chr22	TogoVar
MBD3L4_chr19_7032749_7045179	7035047	TAATTATA others(156): Show TAATTATATTATATATATTATATTATTATAATATAATATATATAATATTA TATTATATAATTATATATATTATATATATATATTATATATTATAATATTA TATATAATATATATTATATATATATTATATTATATATATATAATATATTA TATTATATATAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	262	0.0038	-163	c.26 others(11): Show c.2651_*2813del	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2701		chr19	TogoVar
MCF2L_chr13_112964214_113104742	113011949	AGGCGGTG others(156): Show AGGCGGTGTGGACGGTGGACAGGCTGGGTGGATGGTGGACACTGCGATGA GGACGGTGGACACTGCGATGAGGACAGTGGACAGGTGGTGTGGACGGTGG ACACTGCAGTGTGAATGGTGGACAGGTGGTGTGGACAGTGGACACTGCAG TGTGGATGGTGGAC	A A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0102 a0001c0004t0001g0102	1	116	0.0086	-163	c.80- others(15): Show c.80-2813_80-2651del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29			chr13	TogoVar
MRTFA_chr22_40405289_40641719	40539456	TAGCCTCC others(156): Show TAGCCTCCCAAGTAGCTGGACTACGGGCGCCCACCACCATGCCCGGCTAA TTTTTGTGTTTTTTGTTTGAGACAGTCTTTCTCTGTAGCCAGGCTGGAGT GCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGC GATTCTCCTGCCTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00558.hp1 others(46): Show HG00280.hp1 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG01123.hp2 HG01255.hp1 HG01358.hp1 HG01928.hp2 HG01952.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03704.hp1 HG03710.hp2 NA18612.hp1 NA18939.hp2 NA18943.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18964.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18984.hp1 NA18994.hp1 NA19000.hp2 NA19003.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19084.hp2 NA19090.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0011 a0001c0013 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0004t0001 a0001c0005t0002 a0001c0011t0005 a0001c0013t0001 a0001c0019t0002	a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0002g0001 others(46): Show a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0225 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0005g0043 a0001c0001t0005g0047 a0001c0004t0001g0049 a0001c0005t0002g0018 a0001c0011t0005g0045 a0001c0011t0005g0051 a0001c0013t0001g0056 a0001c0019t0002g0040	49	256	0.1914	-163	c.241 others(19): Show c.241+12487_241+12649del	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
NDST3_chr4_118029486_118263634	118066554	TATGTTAT others(156): Show TATGTTATATATTATATATACATTATATATAACATGTTATATATTATATA TACATTATATATAACATGTTATATATTATATATACATTATATATAACATG TTATATATTATATATACATTATATATAACATGTTATATATTATATATACA TTATATATAACATG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0107 a0001c0005t0001g0107	1	216	0.0046	-163	c.981 others(19): Show c.981+11664_981+11826del	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13			chr4	TogoVar
NDST3_chr4_118029486_118263634	118066711	TAACATGT others(156): Show TAACATGTTATATATTATATATACATTATATATAACATGTTATATATTAT ATATACATTATATATAACATGTTATATATTATATATACATTATATATAAC ATGTTATATATTATATATACATTATATATAACATGTTATATATTATATAT ACATTATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp2 NA18906.hp2 others(3): Show HG00639.hp1 HG02055.hp2 NA18906.hp2 NA18954.hp1 NA18972.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0011 a0001c0001t0001 a0001c0002t0001 a0001c0006t0011	a0001c0001t0001g0184 a0001c0002t0001g0069 a0001c0002t0001g0070 others(3): Show a0001c0001t0001g0184 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0006t0011g0102	6	216	0.0278	-163	c.981 others(19): Show c.981+11822_981+11984del	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
NEU4_chr2_241804193_241822413	241807487	ACCTTCCC others(156): Show ACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCT CTGCAGGCCACCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 NA19007.hp1 HG02004.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	319	0.0063	-163	c.-17 others(11): Show c.-1790_-1628del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1705		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807604	CCTTCCCT others(156): Show CCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0034 a0002c0003t0002g0034	2	319	0.0063	-163	c.-16 others(11): Show c.-1673_-1511del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1588		chr2	TogoVar
NGEF_chr2_232873701_233018256	232906454	TCCGGCCA others(156): Show TCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACC CCGTGTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGTCAGCCGCCC CGTCCGGGAGGTGAGGGGCACCTCCCTCCGGCCACCCCTACTGGGAAGTG AGGAGCCCCTCTGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0135 a0001c0001t0008g0135	1	362	0.0028	-163	c.829 others(19): Show c.829-11701_829-11539del	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232906508	GTGGGAGG others(156): Show GTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGTCAGCCGCCCCGTC CGGGAGGTGAGGGGCACCTCCCTCCGGCCACCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCACCACCCCATC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(265): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0012 a0002c0006 a0002c0008 a0002c0009 a0002c0010 a0002c0014 a0003c0019 a0004c0016 a0005c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0002t0003 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0028 a0001c0002t0035 a0001c0003t0002 a0001c0003t0005 a0001c0003t0010 a0001c0003t0019 a0001c0003t0027 a0001c0004t0003 a0001c0004t0004 a0001c0004t0014 a0001c0004t0017 a0001c0005t0002 a0001c0005t0005 a0001c0005t0006 a0001c0005t0016 a0001c0011t0001 a0001c0012t0001 a0001c0012t0010 a0002c0006t0001 a0002c0006t0002 a0002c0006t0005 a0002c0006t0006 a0002c0006t0007 a0002c0006t0008 a0002c0008t0004 a0002c0008t0017 a0002c0009t0002 a0002c0009t0005 a0002c0010t0001 a0002c0010t0003 a0002c0010t0012 a0002c0014t0002 a0003c0019t0003 a0004c0016t0022 a0005c0017t0003	a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0064 others(264): Show a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0125 a0001c0001t0001g0165 a0001c0001t0001g0337 a0001c0001t0002g0001 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0123 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0166 a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0188 a0001c0001t0002g0198 a0001c0001t0002g0213 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0241 a0001c0001t0002g0257 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0283 a0001c0001t0002g0293 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0336 a0001c0001t0002g0356 a0001c0001t0003g0279 a0001c0001t0003g0358 a0001c0001t0005g0160 a0001c0001t0006g0013 a0001c0001t0006g0083 a0001c0001t0006g0108 a0001c0001t0006g0207 a0001c0001t0006g0249 a0001c0001t0006g0275 a0001c0001t0006g0301 a0001c0001t0006g0308 a0001c0001t0006g0347 a0001c0001t0006g0348 a0001c0001t0007g0044 a0001c0001t0007g0172 a0001c0001t0007g0319 a0001c0001t0007g0320 a0001c0001t0008g0059 a0001c0001t0008g0060 a0001c0001t0008g0107 a0001c0001t0008g0119 a0001c0001t0008g0161 a0001c0001t0008g0176 a0001c0001t0008g0230 a0001c0001t0008g0345 a0001c0001t0008g0346 a0001c0001t0009g0040 a0001c0001t0009g0233 a0001c0001t0009g0245 a0001c0001t0009g0270 a0001c0001t0009g0333 a0001c0001t0013g0053 a0001c0001t0013g0054 a0001c0001t0013g0055 a0001c0001t0013g0193 a0001c0001t0015g0236 a0001c0001t0015g0276 a0001c0001t0015g0280 a0001c0001t0015g0281 a0001c0001t0023g0011 a0001c0001t0025g0008 a0001c0001t0026g0261 a0001c0001t0029g0128 a0001c0001t0031g0021 a0001c0001t0032g0234 a0001c0001t0033g0106 a0001c0002t0003g0012 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0127 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0163 a0001c0002t0003g0167 a0001c0002t0003g0202 a0001c0002t0003g0211 a0001c0002t0003g0215 a0001c0002t0003g0240 a0001c0002t0003g0242 a0001c0002t0003g0262 a0001c0002t0003g0268 a0001c0002t0003g0282 a0001c0002t0003g0290 a0001c0002t0003g0298 a0001c0002t0003g0305 a0001c0002t0003g0309 a0001c0002t0003g0312 a0001c0002t0003g0313 a0001c0002t0003g0314 a0001c0002t0003g0352 a0001c0002t0009g0116 a0001c0002t0011g0019 a0001c0002t0011g0122 a0001c0002t0011g0131 a0001c0002t0011g0133 a0001c0002t0011g0140 a0001c0002t0011g0251 a0001c0002t0011g0289 a0001c0002t0011g0291 a0001c0002t0012g0056 a0001c0002t0012g0063 a0001c0002t0012g0068 a0001c0002t0012g0200 a0001c0002t0012g0225 a0001c0002t0028g0020 a0001c0002t0035g0361 a0001c0003t0002g0087 a0001c0003t0002g0134 a0001c0003t0002g0186 a0001c0003t0002g0294 a0001c0003t0002g0303 a0001c0003t0005g0041 a0001c0003t0005g0066 a0001c0003t0005g0113 a0001c0003t0005g0136 a0001c0003t0005g0154 a0001c0003t0005g0162 a0001c0003t0005g0169 a0001c0003t0005g0170 a0001c0003t0005g0190 a0001c0003t0005g0197 a0001c0003t0005g0201 a0001c0003t0005g0212 a0001c0003t0005g0214 a0001c0003t0005g0217 a0001c0003t0005g0229 a0001c0003t0005g0267 a0001c0003t0005g0286 a0001c0003t0005g0299 a0001c0003t0005g0300 a0001c0003t0005g0302 a0001c0003t0005g0304 a0001c0003t0005g0307 a0001c0003t0005g0332 a0001c0003t0005g0343 a0001c0003t0005g0344 a0001c0003t0005g0351 a0001c0003t0010g0022 a0001c0003t0010g0048 a0001c0003t0010g0146 a0001c0003t0010g0147 a0001c0003t0010g0148 a0001c0003t0010g0151 a0001c0003t0010g0335 a0001c0003t0019g0126 a0001c0003t0019g0159 a0001c0003t0027g0016 a0001c0004t0003g0168 a0001c0004t0003g0189 a0001c0004t0003g0194 a0001c0004t0003g0205 a0001c0004t0003g0206 a0001c0004t0003g0209 a0001c0004t0003g0216 a0001c0004t0003g0244 a0001c0004t0004g0032 a0001c0004t0004g0033 a0001c0004t0004g0034 a0001c0004t0004g0035 a0001c0004t0004g0036 a0001c0004t0004g0037 a0001c0004t0004g0038 a0001c0004t0004g0039 a0001c0004t0004g0045 a0001c0004t0004g0067 a0001c0004t0004g0072 a0001c0004t0004g0080 a0001c0004t0004g0086 a0001c0004t0004g0090 a0001c0004t0004g0099 a0001c0004t0004g0138 a0001c0004t0004g0174 a0001c0004t0004g0192 a0001c0004t0004g0195 a0001c0004t0004g0196 a0001c0004t0004g0210 a0001c0004t0004g0218 a0001c0004t0004g0219 a0001c0004t0004g0220 a0001c0004t0004g0221 a0001c0004t0004g0223 a0001c0004t0004g0226 a0001c0004t0004g0243 a0001c0004t0004g0331 a0001c0004t0014g0187 a0001c0004t0014g0208 a0001c0004t0017g0003 a0001c0005t0002g0015 a0001c0005t0005g0287 a0001c0005t0006g0105 a0001c0005t0016g0248 a0001c0011t0001g0182 a0001c0012t0001g0058 a0001c0012t0010g0340 a0002c0006t0001g0103 a0002c0006t0002g0354 a0002c0006t0005g0288 a0002c0006t0006g0018 a0002c0006t0006g0074 a0002c0006t0006g0076 a0002c0006t0006g0095 a0002c0006t0006g0295 a0002c0006t0007g0031 a0002c0006t0008g0100 a0002c0006t0008g0111 a0002c0006t0008g0124 a0002c0008t0004g0069 a0002c0008t0004g0073 a0002c0008t0004g0078 a0002c0008t0004g0081 a0002c0008t0004g0082 a0002c0008t0004g0091 a0002c0008t0004g0132 a0002c0008t0004g0143 a0002c0008t0004g0144 a0002c0008t0004g0145 a0002c0008t0004g0357 a0002c0008t0017g0005 a0002c0009t0002g0253 a0002c0009t0002g0254 a0002c0009t0002g0255 a0002c0009t0005g0077 a0002c0009t0005g0142 a0002c0009t0005g0224 a0002c0009t0005g0321 a0002c0009t0005g0324 a0002c0009t0005g0325 a0002c0009t0005g0328 a0002c0010t0001g0250 a0002c0010t0003g0139 a0002c0010t0003g0292 a0002c0010t0003g0297 a0002c0010t0003g0322 a0002c0010t0003g0323 a0002c0010t0003g0326 a0002c0010t0003g0327 a0002c0010t0012g0296 a0002c0014t0002g0355 a0003c0019t0003g0191 a0004c0016t0022g0006 a0005c0017t0003g0260	268	362	0.7403	-163	c.829 others(19): Show c.829-11755_829-11593del	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar

Search by Variant

Search

Search Results