Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FGFR4_chr5_177081915_177103144	177100215	CCTCAAAC others(130): Show CCTCAAACTCCTGGGCTCAAGCAACCCTCCCACCTCAGCCTGCCAAGTGT GTAGGACTACAGGTGCATGCCACCATACATGGATAATTATTTTTTAGTTT TTGTAGAGATGGGGTTTTGCTATGTTGTCCAAGCTGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0190 a0003c0004t0001g0190	1	372	0.0027	-137	c.25 others(11): Show c.2540_*2676del	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding		2072		chr5	TogoVar
FGR_chr1_27607064_27640185	27608849	TGTGTGTG others(130): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTTCGATACTGTACC TGGGGTGTGTGTGTGTGTGTGTGTGTGTGTCTTCAATACTGTACCTGGGG TATGTGTGTGTGTGTGTGTCTTCGATACTGTACCTGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG00741.hp2 others(10): Show HG00099.hp1 HG00738.hp1 HG00741.hp2 HG01358.hp1 HG01981.hp1 HG02071.hp2 HG03041.hp1 HG03831.hp2 NA18946.hp2 NA18974.hp2 NA19009.hp1 NA19077.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0047 a0001c0001t0001g0103 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0047 a0001c0001t0001g0103 a0001c0001t0001g0140 a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0222 a0001c0001t0004g0029	13	278	0.0468	-137	c.39 others(11): Show c.3928_*4064del	FGR	ENSG00000000938.13	transcript	ENST00000374005.8	protein_coding		3214		chr1	TogoVar
FNIP1_chr5_131636714_131802017	131785009	TATATATA others(130): Show TATATATATGATATATATGACATATATATGATATATATGACTATATATAT CATATATATGATATATATGACATATATATATGATATATATGACTATATAT ATATCATATATATGATATATATGACTATATATATAGTC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp2 NA18977.hp1 HG02559.hp2 HG02809.hp2 NA18977.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0017 a0008c0016 a0001c0001 a0001c0017 a0008c0016	a0001c0001t0001 a0001c0017t0001 a0008c0016t0001 a0001c0001t0001 a0001c0017t0001 a0008c0016t0001	a0001c0001t0001g0063 a0001c0017t0001g0062 a0008c0016t0001g0190 a0001c0001t0001g0063 a0001c0017t0001g0062 a0008c0016t0001g0190	3	328	0.0092	-137	c.92+ others(17): Show c.92+11684_92+11820del	FNIP1	ENSG00000217128.13	transcript	ENST00000510461.6	protein_coding	1/17			chr5	TogoVar
GABRG2_chr5_162062773_162160526	162125401	CTGGATTC others(130): Show CTGGATTCTAGTGGCTAAGTCATTTCCCACCAAGATTTTGGATTATATAA TCATTGAGGTCTCAACGCAAATGTAGATAGCAGCTTCACTTTAAGGCATG ATGCATAAGGTTTGAGGTCTTGTGCCATTTTTGATAGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp1 HG02723.hp2 others(3): Show HG02145.hp2 HG02717.hp1 HG02723.hp2 HG03195.hp2 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0160 a0001c0001t0002g0161 others(3): Show a0001c0001t0002g0029 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0185 a0001c0001t0002g0204 a0001c0001t0002g0217	6	328	0.0183	-137	c.770 others(19): Show c.770-16761_770-16625del	GABRG2	ENSG00000113327.17	transcript	ENST00000639213.2	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GAS6_chr13_113815549_113869076	113829229	AATCTCAG others(130): Show AATCTCAGGCAGACCACATGATCCTCACCTGGGCCAAGAGGGTCCCAATC TCAGGGAGGCCACCTGATCCTCACCTGGGCGAAGAGGGTCCCAATCTCAG GGAGACCACCTGATCCTCACCTGGCCAAGAGGGACCTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00639.hp2 others(39): Show HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18990.hp2 NA19064.hp1 NA19088.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0016 a0004c0010 a0005c0012 a0007c0014	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0016t0001 a0004c0010t0001 a0005c0012t0001 a0007c0014t0003	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(38): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0130 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0038 a0001c0002t0001g0050 a0001c0002t0001g0070 a0001c0002t0001g0086 a0001c0002t0001g0116 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0131 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0002g0001 a0001c0004t0001g0125 a0001c0006t0001g0109 a0001c0006t0001g0110 a0001c0007t0001g0127 a0001c0007t0001g0128 a0001c0016t0001g0126 a0004c0010t0001g0133 a0005c0012t0001g0129 a0007c0014t0003g0002	42	143	0.2937	-137	c.114 others(17): Show c.1144-655_1144-519del	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	10/14			chr13	TogoVar
GATA5_chr20_62458497_62480995	62476962	CTTTTTTC others(130): Show CTTTTTTCTTTCTCGGAGCACACCGGGTGGACCCAGGCTTGGCGGCCATG AAAGTTCTTTTTTCTTTCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02897.hp1 HG03471.hp2 HG02886.hp1 HG02897.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0033 a0001c0002t0003g0220 a0001c0002t0003g0223 a0001c0002t0001g0033 a0001c0002t0003g0220 a0001c0002t0003g0223	3	382	0.0079	-137	c.-11 others(11): Show c.-1191_-1055del	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		968		chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608124	ATCCATTT others(130): Show ATCCATTTCTAGAAACATGCCCCTCTGACCCCACATCCATTTCTAGAAAC ATGCCCCTGTGACCTCACCTCCATTTCTAGAAACATGCCCCTCTGACCTC ACCTCCATTTCTAGAAACATGCCCCTCTGACCCACACC	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0185 a0001c0010t0003g0185	1	330	0.0030	-137	c.132 others(17): Show c.132-3421_132-3285del	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608158	ATCCATTT others(130): Show ATCCATTTCTAGAAACATGCCCCTGTGACCTCACCTCCATTTCTAGAAAC ATGCCCCTCTGACCTCACCTCCATTTCTAGAAACATGCCCCTCTGACCCA CACCTCCATTTCTAGAAACATGCCCCTGTGACCTCACC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02109.hp1 HG02257.hp2 others(6): Show HG01081.hp1 HG02109.hp1 HG02257.hp2 HG02965.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0023 a0001c0001t0001g0114 a0001c0001t0001g0115 others(5): Show a0001c0001t0001g0023 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0187 a0001c0001t0011g0120 a0001c0001t0011g0254	9	330	0.0273	-137	c.132 others(17): Show c.132-3455_132-3319del	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GSTA2_chr6_52745087_52768475	52753097	TTCACCTC others(130): Show TTCACCTCCAATGAGTGCCTTTTATAGTCTAGTCATTATGCTCTGAGTTT TACAGGTATATAGTCATTATGCTCTGAGTTTTACAGGTATATTAACATTT ATTTCTTAAAACAGCCTATCAAGGTAGATAGCTCTCTA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	440	0.0023	-137	c.273 others(15): Show c.273-239_273-103del	GSTA2	ENSG00000244067.3	transcript	ENST00000493422.3	protein_coding	4/6			chr6	TogoVar
INF2_chr14_104684618_104727535	104720409	CCTCGTGT others(130): Show CCTCGTGTGGATGCTGCTGTGGACGTCTGCGTAGTCTCGTGTGGATGCTG CTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACATCTGCG TAGTCTCGTGTGGATGCTGCTGTGAACGTCTGCGTAGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01981.hp1 HG03834.hp2 HG01981.hp1 HG03834.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0024 a0001c0001 a0013c0024	a0001c0001t0093 a0013c0024t0037 a0001c0001t0093 a0013c0024t0037	a0001c0001t0093g0205 a0013c0024t0037g0029 a0001c0001t0093g0205 a0013c0024t0037g0029	2	380	0.0053	-137	c.16 others(11): Show c.1671_*1807del	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23	5125	INFO_REALIGN_3_PRIME	chr14	TogoVar
KALRN_chr3_124028369_124731325	124628145	CTCCCTCC others(130): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCCTCCCTCCCTCCTTCATTCCC TCCCTCCCCCCCTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCCTCCCTC CCTTCTTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01074.hp2 others(11): Show HG00323.hp2 HG00642.hp1 HG01074.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG02647.hp1 HG02896.hp2 HG03041.hp2 HG03209.hp2 HG03540.hp2 NA19030.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(6): Show a0001c0001 a0001c0003 a0001c0007 a0001c0011 a0001c0019 a0001c0044 a0001c0051 a0001c0068 a0001c0071	a0001c0001t0003 a0001c0003t0001 a0001c0003t0029 others(8): Show a0001c0001t0003 a0001c0003t0001 a0001c0003t0029 a0001c0007t0002 a0001c0007t0003 a0001c0011t0001 a0001c0019t0004 a0001c0044t0015 a0001c0051t0003 a0001c0068t0013 a0001c0071t0003	a0001c0001t0003g0010 a0001c0001t0003g0029 a0001c0001t0003g0112 others(11): Show a0001c0001t0003g0010 a0001c0001t0003g0029 a0001c0001t0003g0112 a0001c0003t0001g0045 a0001c0003t0029g0048 a0001c0007t0002g0019 a0001c0007t0002g0051 a0001c0007t0003g0101 a0001c0011t0001g0017 a0001c0019t0004g0104 a0001c0044t0015g0080 a0001c0051t0003g0005 a0001c0068t0013g0063 a0001c0071t0003g0082	14	116	0.1207	-137	c.518 others(19): Show c.5183-4259_5183-4123del	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAZN_chr1_14593685_15123043	15048697	TGATCCTT others(130): Show TGATCCTTGGTCGTTGGTCCTGGGTCGTTGGTCATGGGTCGTCGATCCTG GGTCGTCGATCCTGGGTCGTCGATCCTGGGTCGTTGATCCTTGGTCATTG GTCCTGAGTCGTTGGTCCTGGGTTGTTGGTGCTGGGTC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0033 a0001c0001t0009g0033	1	146	0.0069	-137	c.726 others(17): Show c.726+4540_726+4676del	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNJ6_chr21_37602373_37921457	37756655	TGATTCCA others(130): Show TGATTCCAGCCTGGAGTGAGCACTCCCTCACAGCGTGATGATTCCAGCCT GGAGTGAGCACTCCCTCACAGATTCAAGCCCGGAGTGAGCACTCCCTCAC AGCATGATGGTTCCAGCCCAAGTGAGCACTCCCTCACA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0055 a0001c0001t0088g0055	1	198	0.0051	-137	c.26- others(17): Show c.26-41661_26-41525del	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3			chr21	TogoVar
KCNQ2_chr20_63395208_63477655	63455861	CTCACGGG others(130): Show CTCACGGGCCCCCCACCTCCGGGAGACCCCTGTGCTCACGGGCCCCCCAC CTCCGGGAGGCCCCTCTGCTCACGGGCCCCCCACCTCCGGGAGGCCCCTC TGCTCACGGGCCCCCCACCTCCGGGAGGCCCCTCTGCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00597.hp1 others(73): Show HG00280.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp2 HG01109.hp1 HG01243.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02056.hp2 HG02109.hp1 HG02132.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02698.hp1 HG02735.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18952.hp1 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18983.hp2 NA18990.hp1 NA18995.hp1 NA19000.hp1 NA19057.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp2 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0005 others(7): Show a0001c0002 a0001c0003 a0001c0005 a0001c0022 a0001c0030 a0002c0001 a0002c0015 a0002c0024 a0002c0029 a0003c0010	a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 others(30): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0002t0012 a0001c0002t0022 a0001c0002t0079 a0001c0002t0081 a0001c0002t0088 a0001c0003t0094 a0001c0005t0047 a0001c0022t0010 a0001c0030t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0006 a0002c0001t0008 a0002c0001t0009 a0002c0001t0019 a0002c0001t0020 a0002c0001t0026 a0002c0001t0040 a0002c0001t0042 a0002c0001t0056 a0002c0001t0060 a0002c0001t0061 a0002c0001t0062 a0002c0001t0064 a0002c0001t0077 a0002c0015t0033 a0002c0024t0009 a0002c0029t0001 a0003c0010t0001	a0001c0002t0002g0123 a0001c0002t0003g0304 a0001c0002t0010g0118 others(72): Show a0001c0002t0002g0123 a0001c0002t0003g0304 a0001c0002t0010g0118 a0001c0002t0012g0098 a0001c0002t0022g0002 a0001c0002t0079g0249 a0001c0002t0081g0087 a0001c0002t0088g0093 a0001c0003t0094g0014 a0001c0005t0047g0065 a0001c0022t0010g0015 a0001c0030t0002g0259 a0002c0001t0001g0013 a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0018 a0002c0001t0001g0019 a0002c0001t0001g0058 a0002c0001t0001g0059 a0002c0001t0001g0066 a0002c0001t0001g0113 a0002c0001t0001g0116 a0002c0001t0001g0121 a0002c0001t0001g0122 a0002c0001t0001g0124 a0002c0001t0001g0125 a0002c0001t0001g0132 a0002c0001t0001g0248 a0002c0001t0002g0060 a0002c0001t0002g0061 a0002c0001t0002g0062 a0002c0001t0002g0238 a0002c0001t0002g0247 a0002c0001t0005g0084 a0002c0001t0005g0089 a0002c0001t0006g0063 a0002c0001t0006g0075 a0002c0001t0006g0077 a0002c0001t0006g0079 a0002c0001t0006g0083 a0002c0001t0006g0095 a0002c0001t0008g0064 a0002c0001t0008g0067 a0002c0001t0008g0068 a0002c0001t0008g0069 a0002c0001t0008g0070 a0002c0001t0008g0072 a0002c0001t0008g0074 a0002c0001t0008g0076 a0002c0001t0008g0081 a0002c0001t0009g0085 a0002c0001t0009g0086 a0002c0001t0009g0257 a0002c0001t0019g0090 a0002c0001t0019g0092 a0002c0001t0019g0221 a0002c0001t0019g0239 a0002c0001t0020g0099 a0002c0001t0026g0096 a0002c0001t0040g0007 a0002c0001t0042g0008 a0002c0001t0056g0078 a0002c0001t0060g0097 a0002c0001t0061g0080 a0002c0001t0062g0071 a0002c0001t0064g0088 a0002c0001t0077g0073 a0002c0015t0033g0011 a0002c0015t0033g0012 a0002c0024t0009g0091 a0002c0029t0001g0225 a0003c0010t0001g0117 a0003c0010t0001g0119 a0003c0010t0001g0120 a0003c0010t0001g0255	76	330	0.2303	-137	c.297 others(17): Show c.297-9161_297-9025del	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	1/16			chr20	TogoVar
LCN9_chr9_135658309_135671961	135663805	ACCTGGAG others(130): Show ACCTGGAGGGGCAGAGGAGAGACCTGTGGGGCAGAGGGGGCCCTGGAAGG GCAGAGGGCATTCTGTGAGCAGAGGGGGGACCTTGGGATCAAAGGGGGGA TCTGGGGACATAGGGGAGACCTGGGGGGCAGCGGGGGC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0039 a0001c0001t0009g0039	1	424	0.0024	-137	c.97- others(13): Show c.97-350_97-214del	LCN9	ENSG00000148386.10	transcript	ENST00000619315.2	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
LRBA_chr4_150259435_151020284	150658521	CCCTCTCC others(130): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTGCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0015 a0015	a0015c0029 a0015c0029	a0015c0029t0001 a0015c0029t0001	a0015c0029t0001g0017 a0015c0029t0001g0017	1	180	0.0056	-137	c.592 others(21): Show c.5921+24893_5921+25029del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LYPD3_chr19_43455787_43470608	43456633	GGATTACA others(130): Show GGATTACAGGCGTGAGCCACCATGCCCAGCCGATTTTGTTGCATTTTTAG TAGAGATGGGGTTTCGCCATATTGGCCAGACTGGTCTCGAACTCCTCACC TAAGGTGATCCGCCCGCCTCGACTTCCCAAAGTGCTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	450	0.0022	-137	c.45 others(11): Show c.4581_*4717del	LYPD3	ENSG00000124466.9	transcript	ENST00000244333.4	protein_coding		4153		chr19	TogoVar
LYPD3_chr19_43455787_43470608	43456721	GAACTCCT others(130): Show GAACTCCTCACCTAAGGTGATCCGCCCGCCTCGACTTCCCAAAGTGCTGT GATTACAGGCGTGAGCCACCATGCCCAGCCGATTTTGTTGCATTTTTAGT AGAGATGGGGTTTCGCCATATTGGCCAGACTGGTCTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG02015.hp1 HG02055.hp2 others(13): Show HG00280.hp1 HG02015.hp1 HG02055.hp2 HG02132.hp1 HG02717.hp1 HG03490.hp1 HG03492.hp2 HG03942.hp2 HG04199.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18951.hp1 NA18959.hp1 NA18989.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0031 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0003g0002 a0001c0001t0006g0042	16	450	0.0356	-137	c.44 others(11): Show c.4493_*4629del	LYPD3	ENSG00000124466.9	transcript	ENST00000244333.4	protein_coding		4065		chr19	TogoVar
MADCAM1_chr19_491486_510343	492842	CGGCCTCC others(130): Show CGGCCTCCCAAAGTGCTCGGATTACAGGCGCCCGCCACCACGCCTGGCTA ATCTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCCATCTCCTGACCTCGTGATCCACCCGCCTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0258 a0001c0012t0001g0258	1	364	0.0028	-137	c.-36 others(11): Show c.-3657_-3521del	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding		3643		chr19	TogoVar
MAPK4_chr18_50555087_50736826	50689136	ATGTAATC others(130): Show ATGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACATGAAGTC AGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAA AAATATAAAAAATTATCCCAGGTGTGGTGGTGCAAGCC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01891.hp1 others(30): Show HG01243.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG02071.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03453.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp2 HG03831.hp2 HG06807.hp1 NA18962.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0036 a0001c0003t0006 a0001c0004t0008 a0001c0005t0002 a0001c0005t0007 a0001c0010t0014 a0002c0002t0001 a0002c0002t0010	a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0043 others(30): Show a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0159 a0001c0001t0001g0244 a0001c0001t0001g0253 a0001c0001t0002g0051 a0001c0001t0002g0082 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0166 a0001c0001t0002g0172 a0001c0001t0002g0251 a0001c0001t0002g0260 a0001c0001t0008g0147 a0001c0001t0009g0298 a0001c0001t0011g0122 a0001c0001t0014g0104 a0001c0001t0015g0149 a0001c0001t0016g0111 a0001c0001t0036g0297 a0001c0003t0006g0198 a0001c0004t0008g0100 a0001c0005t0002g0002 a0001c0005t0007g0029 a0001c0005t0007g0037 a0001c0005t0007g0155 a0001c0005t0007g0156 a0001c0010t0014g0150 a0002c0002t0001g0012 a0002c0002t0001g0299 a0002c0002t0010g0171	33	302	0.1093	-137	c.546 others(19): Show c.546+24645_546+24781del	MAPK4	ENSG00000141639.12	transcript	ENST00000400384.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
MARCO_chr2_118937194_118999660	118956411	ATGGTAAA others(130): Show ATGGTAAAAGTCCTTGTCCAACAGGAAGATATCACAATCCCAAACATTTA TGCACCTAACACTGGAGCTCTCAAATTTATAAAACAATTACTAATAGACC TAAGAAATGAGATAGACAGCAACACAATAATAGTGAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00741.hp2 HG01106.hp1 HG01175.hp1 HG01243.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18946.hp1 NA18949.hp1 NA18954.hp1 NA18967.hp2 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18989.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0010	a0001c0001 a0001c0003 a0001c0010 others(5): Show a0001c0001 a0001c0003 a0001c0010 a0002c0002 a0002c0006 a0003c0005 a0007c0011 a0010c0009	a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 a0002c0002t0001 a0002c0006t0001 a0003c0005t0001 a0007c0011t0001 a0010c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0047 others(84): Show a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0357 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0003t0001g0043 a0001c0003t0001g0216 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0227 a0001c0010t0001g0246 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0128 a0002c0002t0001g0190 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0298 a0002c0002t0001g0335 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0002t0001g0353 a0002c0002t0001g0356 a0002c0002t0001g0358 a0002c0002t0001g0359 a0002c0002t0001g0362 a0002c0002t0001g0363 a0002c0002t0001g0364 a0002c0002t0001g0365 a0002c0002t0001g0366 a0002c0002t0001g0367 a0002c0002t0001g0368 a0002c0002t0001g0369 a0002c0002t0001g0370 a0002c0002t0001g0371 a0002c0002t0001g0372 a0002c0002t0001g0374 a0002c0006t0001g0144 a0002c0006t0001g0145 a0003c0005t0001g0338 a0003c0005t0001g0375 a0007c0011t0001g0052 a0010c0009t0001g0293	88	394	0.2234	-137	c.98- others(17): Show c.98-12747_98-12611del	MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237542705	GCAGTGGT others(130): Show GCAGTGGTGAGTGGCGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGAG GGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGG AGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19043.hp1 HG02965.hp1 NA19043.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0014 a0003c0003 a0004c0014	a0003c0003t0002 a0004c0014t0001 a0003c0003t0002 a0004c0014t0001	a0003c0003t0002g0256 a0004c0014t0001g0230 a0003c0003t0002g0256 a0004c0014t0001g0230	2	286	0.0070	-137	c.153 others(16): Show c.1539+94_1539+230del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544736	GGGGGACA others(130): Show GGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGA GTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGTG TGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02922.hp2 HG03225.hp1 others(2): Show HG01496.hp2 HG02922.hp2 HG03225.hp1 HG03540.hp1 NA19240.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0007 a0008c0009t0002g0102 a0008c0009t0002g0113 others(2): Show a0008c0009t0002g0007 a0008c0009t0002g0102 a0008c0009t0002g0113 a0008c0009t0002g0121 a0008c0009t0002g0122	5	286	0.0175	-137	c.154 others(19): Show c.1540-1850_1540-1714del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237545010	GGGACCGT others(130): Show GGGACCGTGGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGGTGGAG GGGGCACTATTGGTAGGGGGGACAATTATTGGGGGGGGGCACTAATTGTG AGGGGGGACCAGTGTTGAGTGGGGGAATAGTTATGAGT	G G	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0055 a0002c0002t0002g0055	1	286	0.0035	-137	c.154 others(19): Show c.1540-1593_1540-1457del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTMR1_chrX_150688396_150770108	150769681	GCCACCAG others(130): Show GCCACCAGGCCTCGGCTGCTCCCCGACCCCAGCAAGCCTTTCCGGACCTC CTCATTGGCATCCCGTGGGCACAGGTCATATCTGCCTCGAGCAGTTGGGC ACTCTAGGCCTGTGGCCTGAACTTATGCGACCTCAAAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18959.hp1 NA18961.hp1 others(6): Show NA18612.hp1 NA18959.hp1 NA18961.hp1 NA18982.hp1 NA18984.hp1 NA19000.hp1 NA19007.hp1 NA19063.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0065 others(6): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0019g0093	9	270	0.0333	-137	c.69 others(11): Show c.6953_*7089del	MTMR1	ENSG00000063601.17	transcript	ENST00000445323.7	protein_coding		4574		chrX	TogoVar
MYOM2_chr8_2040046_2150456	2085610	CTGCGTGG others(130): Show CTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTG ATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCG TGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0002 a0002c0042t0002	a0002c0042t0002g0135 a0002c0042t0002g0135	1	403	0.0025	-137	c.164 others(17): Show c.1644+223_1644+359del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085989	GCCCCCCA others(130): Show GCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTG CGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATC TCTGCGTGGCCCCCCACTGTTGTGATCTCTTTGTGGCC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0053 a0053	a0053c0185 a0053c0185	a0053c0185t0001 a0053c0185t0001	a0053c0185t0001g0067 a0053c0185t0001g0067	1	403	0.0025	-137	c.164 others(17): Show c.1644+604_1644+740del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NAXE_chr1_156586776_156599299	156590049	GGTTTCAC others(130): Show GGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACATCAGGTGAT CCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCAGTG CATCCAGCCCTAATTTTTGTATTTTTAGTAGAGGTGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 NA18940.hp2 HG02145.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	2	432	0.0046	-137	c.-17 others(11): Show c.-1755_-1619del	NAXE	ENSG00000163382.13	transcript	ENST00000368235.8	protein_coding		1726		chr1	TogoVar
NOC4L_chr12_132139457_132157468	132150582	TCATACCA others(130): Show TCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0239 a0002c0002t0001g0239	1	294	0.0034	-137	c.902 others(15): Show c.902-396_902-260del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUDCD1_chr8_109235919_109339087	109255968	GGAGGCTG others(130): Show GGAGGCTGAAGTGGAAAGATTACTTGAAAGTTCAGGAGTCTGATACCTGC TTGGGCAACACAGTGAGATCCCACAACTACAAAAAATCCAAAAATTAGCT AGGCGTGTTGGGATGCACCTGTGGTCCCAGCTACTCAA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0034 a0003c0003t0003g0034	1	360	0.0028	-137	c.130 others(21): Show c.1300-10624_1300-10488del	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	8/9			chr8	TogoVar
P2RX5_chr17_3668227_3701155	3685727	GAGAACAG others(130): Show GAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCCGCCCAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0222 a0002c0002t0001g0222	1	362	0.0028	-137	c.981 others(17): Show c.981+2148_981+2284del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PACRG_chr6_162722974_163320500	163291120	TAGATGAC others(130): Show TAGATGACCCCTCTGCCCGCCAGAGCTGGCCTGCGGGTCACCCTGCAAGA TGACCCTCTGCCTGCCCGAGCTGGCCTGCGGGTCACCCTGCAAGATGTCC CCTCTGCCCGCCAGAGCTGGCCTGCGGGTCACCCTGCA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0013 a0001c0001t0013g0013	1	130	0.0077	-137	c.614 others(19): Show c.614-23645_614-23509del	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163291217	TCCCCTCT others(130): Show TCCCCTCTGCCCGCCAGAGCTGGCCTGCGGGTCACCCTGCAAGATGACCC CTCTGCCCGCCAGAGCTGGCCTGCGGGTCACCCTGCAAGATGACCCTCTG CCCGCCAGAGCTGGCCTGCGGGTCACCCTGCAAGATGA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	130	0.0077	-137	c.614 others(19): Show c.614-23560_614-23424del	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PCDH11X_chrX_91774375_92628230	92503463	ATAGAATC others(130): Show ATAGAATCAACCTAAACGCCCATCAATGATAAACTAGATAAAGAAAATGT GGTACATATACCTCATTGCATACCATGCAGCCATAAAAAGGAACAGGATC TTGTGCTTTGCAGAGACATAGATGGAGTTGGAAGCCAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02055.hp1 others(19): Show HG01109.hp1 HG01243.hp1 HG02055.hp1 HG02615.hp2 HG02809.hp1 HG02818.hp1 HG02976.hp1 HG03041.hp2 HG03453.hp1 HG03492.hp1 HG03540.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18747.hp1 NA18953.hp1 NA18977.hp1 NA19000.hp1 NA19004.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0001t0018 a0001c0001t0029 a0001c0001t0030 a0001c0002t0002 a0001c0003t0012 a0002c0004t0009	a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0111 others(19): Show a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0152 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0049 a0001c0001t0002g0057 a0001c0001t0002g0067 a0001c0001t0002g0085 a0001c0001t0002g0154 a0001c0001t0005g0021 a0001c0001t0014g0051 a0001c0001t0014g0151 a0001c0001t0018g0087 a0001c0001t0029g0024 a0001c0001t0030g0070 a0001c0002t0002g0011 a0001c0003t0012g0144 a0002c0004t0009g0035	22	154	0.1429	-137	c.336 others(21): Show c.3367+35144_3367+35280del	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	10/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCGF3_chr4_700832_775089	706651	GGAGGGCG others(130): Show GGAGGGCGAAGACCCCAGCCCAGGCAGGACCGCGGGAGGGCAGGGACCCC AGACCAGGCAGGACCCTGGGAAGGTCGCGACCCCAGCCCAGGCAGGACCC AGGGAGGGCGAAGACCCCAGACCAGGCAGGACCCAGGT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG03130.hp2 HG02257.hp2 HG02451.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0036 a0001c0001t0011 a0001c0001t0036	a0001c0001t0011g0072 a0001c0001t0011g0073 a0001c0001t0036g0074 a0001c0001t0011g0072 a0001c0001t0011g0073 a0001c0001t0036g0074	3	366	0.0082	-137	c.-19 others(17): Show c.-190+825_-190+961del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCMT1_chr6_149744741_149816419	149762514	CTATGATA others(130): Show CTATGATATATATATCTATGATATATATATCTATGATATATATATATCTA TGATATATATATCTATGATATATATATCTATGATATATATATCTATGATA TATATATATCTATGATATATATATATCTATGATATATA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0026 a0002c0002t0002g0031 a0002c0002t0002g0026 a0002c0002t0002g0031	2	334	0.0060	-137	c.56- others(15): Show c.56-8618_56-8482del	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDZRN4_chr12_41183320_41579745	41402433	GTGTATAT others(130): Show GTGTATATATATATATATACACACTCTGTGTGTATATATATATATACACA CAGGGTGTATATATATATATATATACGCTGTGTGTATATATATATATATA CTGAGTGTATACATATATATATATATACTGAGTATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00621.hp1 others(27): Show HG00438.hp1 HG00544.hp2 HG00621.hp1 HG02071.hp2 HG02148.hp2 HG02257.hp2 HG02451.hp2 HG02622.hp1 HG02886.hp2 HG02895.hp2 HG03486.hp1 HG03540.hp2 NA18522.hp2 NA18612.hp2 NA18945.hp1 NA18950.hp1 NA18954.hp1 NA18966.hp1 NA18970.hp2 NA18978.hp2 NA18980.hp2 NA18983.hp2 NA19007.hp2 NA19056.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19086.hp1 NA19088.hp2 NA20752.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0008 a0015 a0017	a0001c0004 a0002c0009 a0002c0016 others(12): Show a0001c0004 a0002c0009 a0002c0016 a0003c0005 a0003c0006 a0003c0031 a0003c0043 a0004c0003 a0004c0012 a0008c0025 a0008c0026 a0008c0046 a0008c0057 a0015c0050 a0017c0053	a0001c0004t0001 a0001c0004t0005 a0002c0009t0001 others(15): Show a0001c0004t0001 a0001c0004t0005 a0002c0009t0001 a0002c0009t0005 a0002c0016t0001 a0003c0005t0001 a0003c0006t0001 a0003c0006t0002 a0003c0031t0001 a0003c0043t0001 a0004c0003t0001 a0004c0012t0001 a0008c0025t0001 a0008c0026t0001 a0008c0046t0001 a0008c0057t0001 a0015c0050t0001 a0017c0053t0001	a0001c0004t0001g0011 a0001c0004t0001g0157 a0001c0004t0005g0051 others(27): Show a0001c0004t0001g0011 a0001c0004t0001g0157 a0001c0004t0005g0051 a0002c0009t0001g0190 a0002c0009t0005g0194 a0002c0016t0001g0186 a0002c0016t0001g0187 a0003c0005t0001g0017 a0003c0005t0001g0018 a0003c0005t0001g0048 a0003c0005t0001g0049 a0003c0005t0001g0050 a0003c0005t0001g0053 a0003c0005t0001g0059 a0003c0005t0001g0070 a0003c0005t0001g0071 a0003c0005t0001g0074 a0003c0005t0001g0083 a0003c0006t0001g0079 a0003c0006t0002g0073 a0003c0031t0001g0001 a0003c0043t0001g0117 a0004c0003t0001g0081 a0004c0012t0001g0039 a0008c0025t0001g0148 a0008c0026t0001g0147 a0008c0046t0001g0135 a0008c0057t0001g0201 a0015c0050t0001g0023 a0017c0053t0001g0145	30	206	0.1456	-137	c.844 others(21): Show c.844-104021_844-103885del	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFAS_chr17_8244289_8275486	8245824	CGGGAGGC others(130): Show CGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTGGGAAGGTTGAGACCCG CCTGGGCAACATGGTGAAACTCTAAAACAATTCAAAATTAGCTGGATTAG CCTGGCGTGGTAGCACATGCCAGTAGTCCCAGCTACTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp2 others(102): Show HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00735.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01175.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02572.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02809.hp1 HG03041.hp2 HG03139.hp2 HG03490.hp2 HG03492.hp1 HG03831.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18968.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0003 a0004 a0009 others(4): Show a0003 a0004 a0009 a0026 a0027 a0030 a0031	a0003c0003 a0003c0026 a0003c0027 others(6): Show a0003c0003 a0003c0026 a0003c0027 a0004c0004 a0009c0014 a0026c0024 a0027c0025 a0030c0037 a0031c0038	a0003c0003t0001 a0003c0003t0006 a0003c0003t0008 others(13): Show a0003c0003t0001 a0003c0003t0006 a0003c0003t0008 a0003c0003t0009 a0003c0003t0014 a0003c0026t0001 a0003c0027t0001 a0004c0004t0002 a0004c0004t0005 a0004c0004t0012 a0004c0004t0018 a0009c0014t0002 a0026c0024t0006 a0027c0025t0006 a0030c0037t0002 a0031c0038t0001	a0003c0003t0001g0002 a0003c0003t0001g0005 a0003c0003t0001g0020 others(49): Show a0003c0003t0001g0002 a0003c0003t0001g0005 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0023 a0003c0003t0001g0030 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0106 a0003c0003t0001g0109 a0003c0003t0001g0110 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0117 a0003c0003t0001g0119 a0003c0003t0001g0124 a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0165 a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0006g0021 a0003c0003t0008g0032 a0003c0003t0009g0002 a0003c0003t0014g0164 a0003c0026t0001g0108 a0003c0027t0001g0002 a0004c0004t0002g0010 a0004c0004t0002g0015 a0004c0004t0002g0031 a0004c0004t0002g0041 a0004c0004t0002g0116 a0004c0004t0002g0118 a0004c0004t0002g0120 a0004c0004t0002g0121 a0004c0004t0002g0122 a0004c0004t0005g0015 a0004c0004t0005g0123 a0004c0004t0012g0015 a0004c0004t0018g0015 a0009c0014t0002g0010 a0026c0024t0006g0021 a0027c0025t0006g0111 a0030c0037t0002g0010 a0031c0038t0001g0107	105	388	0.2706	-137	c.-35 others(11): Show c.-3594_-3458del	PFAS	ENSG00000178921.14	transcript	ENST00000314666.11	protein_coding		3464		chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67384273	TGGCAGGG others(130): Show TGGCAGGGAGCCAGTGCACTTCATCCAGGCACCCCCAGGGTCCCCAGAGA GTTTTCTTGCGCACATTTCTGAGAACGGATTTGGGATCAGGGTGGTGCTG CCTCTGGAATGACATGAATGGAAATGCCAAAATGCCCA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0218 a0001c0001t0014g0218	1	218	0.0046	-137	c.48+ others(15): Show c.48+6072_48+6208del	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8			chr17	TogoVar
PKD1_chr16_2083708_2140898	2091227	TGCGAGGG others(130): Show TGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGAC GCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCGAGGGGGCGGG GCGCTGCGAGGGGTGAGACGCTGCCGGGGCGGGGCCCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0027 a0027	a0027c0045 a0027c0045	a0027c0045t0002 a0027c0045t0002	a0027c0045t0002g0207 a0027c0045t0002g0207	1	216	0.0046	-137	c.117 others(17): Show c.11712+59_11713-54del	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	42/45			chr16	TogoVar
PLCL1_chr2_197799593_198154863	198029788	TCTCCTGG others(130): Show TCTCCTGGATTCAAGTGATTCTCCTGCTTCAGTTTCCTGAGTAGCTGGGA TTACAGGCATGCATCACCATGCCCAGCTAATTTTGTATTTTCAGTAGAGA CGGGGTTTCACCATGTTGCCTAGGCTGATCTTGAATGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG01070.hp2 others(42): Show HG00323.hp1 HG00408.hp2 HG01070.hp2 HG01106.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01943.hp1 HG02040.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp2 HG02723.hp2 HG02818.hp2 HG04115.hp2 HG04199.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19056.hp2 NA19062.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0003t0006 a0001c0003t0019 others(9): Show a0001c0003t0002 a0001c0003t0006 a0001c0003t0019 a0001c0003t0020 a0001c0003t0026 a0001c0003t0027 a0001c0003t0045 a0001c0003t0046 a0001c0003t0048 a0001c0003t0049 a0001c0003t0050 a0001c0005t0025	a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0008 others(42): Show a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0013 a0001c0003t0002g0016 a0001c0003t0002g0018 a0001c0003t0002g0023 a0001c0003t0002g0025 a0001c0003t0002g0028 a0001c0003t0002g0031 a0001c0003t0002g0033 a0001c0003t0002g0034 a0001c0003t0002g0035 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0137 a0001c0003t0002g0138 a0001c0003t0006g0010 a0001c0003t0006g0014 a0001c0003t0006g0015 a0001c0003t0006g0019 a0001c0003t0006g0021 a0001c0003t0006g0022 a0001c0003t0006g0024 a0001c0003t0006g0027 a0001c0003t0006g0043 a0001c0003t0006g0045 a0001c0003t0019g0026 a0001c0003t0019g0030 a0001c0003t0019g0038 a0001c0003t0020g0002 a0001c0003t0026g0009 a0001c0003t0026g0020 a0001c0003t0027g0029 a0001c0003t0027g0032 a0001c0003t0045g0011 a0001c0003t0046g0005 a0001c0003t0048g0046 a0001c0003t0049g0004 a0001c0003t0050g0017 a0001c0005t0025g0121	45	204	0.2206	-137	c.241 others(19): Show c.241-53967_241-53831del	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLEKHG4B_chr5_87168_194966	165749	CTGACGGG others(130): Show CTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACT AATGCTCTGATGGGACGGGGCTCACACTAATGCTCTGACGGGGCGGGGCT CACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATG	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0062 a0019c0019t0062	a0019c0019t0062g0191 a0019c0019t0062g0191	1	210	0.0048	-137	c.347 others(19): Show c.3476+2202_3476+2338del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19			chr5	TogoVar
PPP6R2_chr22_50338327_50450090	50405495	ACGAGTGT others(130): Show ACGAGTGTGAAGGCCTGGAGAGAGGTGAGAGGCCTGGAGAGAGGTAAGAG GCCTGGAGAGAGGTGAGAGGCCTGGCAGGCGAGTGTGAAGGCCTGGAGAG AGGTGAGAGGCCTGGAGAGAAGTGAGAGGCCTGGCAGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp2 HG03041.hp2 HG01884.hp1 HG02572.hp2 HG03041.hp2	a0009 a0009	a0009c0016 a0009c0030 a0009c0016 a0009c0030	a0009c0016t0008 a0009c0030t0027 a0009c0016t0008 a0009c0030t0027	a0009c0016t0008g0221 a0009c0016t0008g0222 a0009c0030t0027g0069 a0009c0016t0008g0221 a0009c0016t0008g0222 a0009c0030t0027g0069	3	340	0.0088	-137	c.228 others(17): Show c.228-1152_228-1016del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PTPRT_chr20_42067756_43194906	42315090	CTTGCGTG others(130): Show CTTGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCAC TGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGGCTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAATGGTTACCTTGTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp2 HG02280.hp1 others(9): Show HG01243.hp2 HG01261.hp2 HG02280.hp1 HG02622.hp1 HG02647.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03540.hp1 HG03540.hp2 NA18906.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0002 a0001c0003 a0001c0023 others(7): Show a0001c0002 a0001c0003 a0001c0023 a0001c0029 a0001c0031 a0002c0009 a0003c0006 a0004c0024 a0005c0028 a0007c0010	a0001c0002t0014 a0001c0003t0001 a0001c0003t0002 others(9): Show a0001c0002t0014 a0001c0003t0001 a0001c0003t0002 a0001c0003t0029 a0001c0023t0007 a0001c0029t0013 a0001c0031t0001 a0002c0009t0001 a0003c0006t0009 a0004c0024t0005 a0005c0028t0027 a0007c0010t0009	a0001c0002t0014g0052 a0001c0003t0001g0038 a0001c0003t0002g0043 others(9): Show a0001c0002t0014g0052 a0001c0003t0001g0038 a0001c0003t0002g0043 a0001c0003t0029g0048 a0001c0023t0007g0034 a0001c0029t0013g0057 a0001c0031t0001g0056 a0002c0009t0001g0018 a0003c0006t0009g0051 a0004c0024t0005g0032 a0005c0028t0027g0042 a0007c0010t0009g0021	12	62	0.1936	-137	c.213 others(17): Show c.2139+496_2139+632del	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	12/30			chr20	TogoVar
PUS7_chr7_105451503_105527271	105475364	GTTAGTAG others(130): Show GTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTTGTGATCTGCCCCCCTTGGCCTCCTGGAGTGCTGGGATTACAGG CGTCAGCCACCGTGCCAGGCCATTTTTTTTGTATTTTT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	350	0.0029	-137	c.117 others(19): Show c.1176-3308_1176-3172del	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	9/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105475395	CAGGATGG others(130): Show CAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCCCCTTGGCCTCCT GGAGTGCTGGGATTACAGGCGTCAGCCACCGTGCCAGGCCATTTTTTTTG TATTTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0313	1	350	0.0029	-137	c.117 others(19): Show c.1176-3339_1176-3203del	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	9/15			chr7	TogoVar
RAB40C_chr16_585066_634268	612296	GGCCTGTA others(130): Show GGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAG AGCAGGGACAGCCGCCCTGGCCTGTAGATTCAAGAGCAGGGACAGCCGCC CTGGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCTTC	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG04115.hp2 NA18944.hp1 others(1): Show HG02300.hp2 HG04115.hp2 NA18944.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0254 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0254 a0001c0001t0002g0296	4	350	0.0114	-137	c.143 others(17): Show c.143-4858_143-4722del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114119552	GCCCCTCC others(130): Show GCCCCTCCCTCTCTCCAGCCAGGTGTCGATCAAGTCCTCACCTTCTCTCC AGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCA AGTCCCCCCCTTCTCTCCAGCCAGGCGTCGATCAGGGC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02559.hp1 others(2): Show HG02258.hp2 HG02280.hp2 HG02559.hp1 HG04115.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0041 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044	5	67	0.0746	-137	c.55+ others(17): Show c.55+12746_55+12882del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79319594	TGGCTGCT others(130): Show TGGCTGCTGGTCTTGTCCGGGCTGCTGGTCTTGTCTGGGCTGCTGGTCTT GTCTGGGCTGCTGGGCTATGTCTGGGCTGCTGGGCTATATCTGGGCTGCT GGTCTTGTATGGGCTGCTGGGCCAGCTGTTCTTGTCCA	T T	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	154	0.0065	-137	c.-17 others(21): Show c.-174-11907_-174-11771del	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RGPD4_chr2_107821892_107897544	107828103	GCGGCGGC others(130): Show GCGGCGGCGGCCTCGACCTGGCCCGGCGGCGGCCTCGATGGCTCAGGCAT CATGGTTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCAGCGG CCTCGACCTGGCCGGGCGGCGGCGGCCTCGACCTGGCC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0092 a0004c0004t0002g0092	1	374	0.0027	-137	c.72+ others(15): Show c.72+1034_72+1170del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results