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
TMC6_chr17_78102397_78133755	78115618	AGCGAAGG others(203): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0183 a0001c0001t0022g0183	1	188	0.0053	-210	c.227 others(19): Show c.2277+1441_2277+1650del	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	CAGCCTCC others(203): Show CAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03579.hp2 HG02280.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0004 a0001c0014t0001 a0001c0002t0004 a0001c0014t0001	a0001c0002t0004g0013 a0001c0014t0001g0063 a0001c0002t0004g0013 a0001c0014t0001g0063	2	11	0.1818	-210	c.129 others(21): Show c.1299+34288_1299+34497del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129855070	CGGGGAAC others(203): Show CGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGG CTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAG AGTCCGGGGGAACGGGATGGCTGCCCTTGTAACAGAGTCCGGGGGAACGG GATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGT AACGGAGTCCG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02145.hp1 HG02698.hp1 others(4): Show HG00741.hp2 HG02145.hp1 HG02698.hp1 HG02809.hp2 HG03041.hp2 HG03225.hp1 HG04204.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0002t0004 a0002c0003t0001 a0003c0005t0001	a0001c0001t0002g0037 a0001c0001t0008g0092 a0001c0001t0010g0028 others(4): Show a0001c0001t0002g0037 a0001c0001t0008g0092 a0001c0001t0010g0028 a0001c0002t0004g0011 a0001c0002t0004g0077 a0002c0003t0001g0062 a0003c0005t0001g0035	7	90	0.0778	-210	c.79+ others(17): Show c.79+47981_79+48190del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129855540	GTGCCCTT others(203): Show GTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGG GATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGT AACAGAGTCCAGGGGAACGGGATGGGTGCCCTTGTTACGGAGTCCGGGGG AACGGGATGGC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03239.hp1 HG03834.hp1 HG02698.hp2 HG03239.hp1 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0011 a0002c0003t0001 a0001c0001t0001 a0001c0002t0011 a0002c0003t0001	a0001c0001t0001g0024 a0001c0002t0011g0001 a0002c0003t0001g0049 a0001c0001t0001g0024 a0001c0002t0011g0001 a0002c0003t0001g0049	3	92	0.0326	-210	c.79+ others(17): Show c.79+47511_79+47720del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129855798	GGAGTCCG others(203): Show GGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAAC GGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTT ATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGG GGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTG CCCTTGTAACA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02451.hp2 others(4): Show HG01891.hp2 HG02145.hp2 HG02451.hp2 HG02922.hp2 HG03041.hp1 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0002g0027 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0002g0027 a0001c0001t0003g0026 a0001c0001t0003g0046 a0001c0001t0006g0053 a0001c0002t0001g0057	7	83	0.0843	-210	c.79+ others(17): Show c.79+47253_79+47462del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129855868	GGAGTCCG others(203): Show GGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAAC GGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTT GTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGG GGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTG CCCTTGTAACA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp1 HG02976.hp1 others(3): Show HG02451.hp1 HG02922.hp1 HG02976.hp1 HG03239.hp2 HG03453.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0002t0001 a0001c0004t0006	a0001c0001t0002g0048 a0001c0001t0007g0016 a0001c0001t0014g0004 others(3): Show a0001c0001t0002g0048 a0001c0001t0007g0016 a0001c0001t0014g0004 a0001c0002t0001g0047 a0001c0002t0001g0073 a0001c0004t0006g0045	6	65	0.0923	-210	c.79+ others(17): Show c.79+47183_79+47392del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TOLLIP_chr11_1269371_1314632	1287514	CGCCGCAG others(203): Show CGCCGCAGCCTCCCCGCCGCAGCCTCACCGCCGCAGCCTCCCCGCCGCAG CCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCG CCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCC TCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCT GCACCCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	346	0.0029	-210	c.519 others(16): Show c.519+900_519+1109del	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TRIML1_chr4_188134441_188152743	188151827	AGGGGTTG others(203): Show AGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAG GGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGG GGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	129	0.0078	-210	c.44 others(11): Show c.4456_*4665del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4085		chr4	TogoVar
UNC5A_chr5_176805559_176885898	176859586	GTCCTTGC others(203): Show GTCCTTGCTAGAGGGCATGGCTGCTACAATGTCCTTGCTAGAGGGCATGG CTGCTAGAATGCCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGCTA GAGGGCATAGCTGCTAGAATGTCCTTGCTAGAGGGCATAGCTGCTAGAAT GATGTCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGCTAGAGGGCA TAGCTGCTAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00558.hp2 others(116): Show HG00099.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03017.hp1 HG03209.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18954.hp1 NA18954.hp2 NA18963.hp2 NA18971.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19074.hp2 NA19085.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0001c0009 others(1): Show a0001c0001 a0001c0007 a0001c0009 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0007t0001 a0001c0009t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(113): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0002g0121 a0001c0001t0002g0143 a0001c0001t0002g0200 a0001c0001t0003g0050 a0001c0001t0009g0043 a0001c0001t0015g0041 a0001c0001t0016g0161 a0001c0001t0017g0007 a0001c0007t0001g0138 a0001c0009t0001g0177 a0003c0003t0001g0082 a0003c0003t0001g0084	119	265	0.4491	-210	c.71- others(15): Show c.71-3037_71-2828del	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14			chr5	TogoVar
ZFYVE1_chr14_72964451_73032106	73019279	TAAAATAA others(203): Show TAAAATAACCTCTATCTATGGGCCGGGCACAGTGGTGCATACCTGTAGTC TCAGCTACTTGGGAGGCTGTAAGTGGAAGGATTGCTTGAGCCCAGGAATT CAACGCCAGCCTGGGCAACACAGCAAGACCCCATCTAAAAAAAAAATCCC TATGTACTAAATTGAAAATGCTCAAAACCCACAAATGCCTAGAAACATGA AAAGAAAAACA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0059 a0001c0014t0002g0059	1	372	0.0027	-210	c.483 others(17): Show c.483+4537_483+4746del	ZFYVE1	ENSG00000165861.14	transcript	ENST00000556143.6	protein_coding	2/11			chr14	TogoVar
ZNF516_chr18_76352682_76500242	76392554	GCCACGTG others(203): Show GCCACGTGGGGGAAAGGTGGATGGGAAGGCAGGTGGCCGGGTGGGGGAAG GGCAGGTGGGAAGACAAGTGGCCAGGTGGAGGGAGGGCAGGCGGGAAGGC AGGTGACCAGGTGGGGGAAAGGTGGATGGGAAGGCAGGTGACCAGGTGGG GGAAAGGTGGATGGGAAGGCAGGTGACCAGGTGGGGGAAAGGTGGATGGG AAGGCAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02071.hp2 NA18941.hp2 others(13): Show HG01261.hp2 HG02071.hp2 NA18941.hp2 NA18943.hp1 NA18960.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp2 NA19012.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19086.hp2 NA19090.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0011 a0001c0001 a0001c0004 a0001c0011	a0001c0001t0002 a0001c0001t0012 a0001c0001t0014 others(11): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0022 a0001c0001t0032 a0001c0001t0035 a0001c0001t0045 a0001c0001t0095 a0001c0001t0112 a0001c0004t0007 a0001c0011t0003 a0001c0011t0004 a0001c0011t0013	a0001c0001t0002g0217 a0001c0001t0012g0311 a0001c0001t0014g0054 others(13): Show a0001c0001t0002g0217 a0001c0001t0012g0311 a0001c0001t0014g0054 a0001c0001t0014g0055 a0001c0001t0014g0203 a0001c0001t0020g0214 a0001c0001t0022g0212 a0001c0001t0032g0211 a0001c0001t0035g0233 a0001c0001t0045g0309 a0001c0001t0095g0272 a0001c0001t0112g0065 a0001c0004t0007g0312 a0001c0011t0003g0003 a0001c0011t0004g0208 a0001c0011t0013g0209	16	342	0.0468	-210	c.181 others(21): Show c.1811-12461_1811-12252del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235040	CCTCCACT others(203): Show CCTCCACTCCAGCCTCTGATTGACCGTGGGCCAAGCCTCCACTCCAACCT CTGATGGACGGTGGGCCAAGCCTCCACTCCAACCTCTGATGGACGGTGGG CCAAGCCTCCACTCCAGCCTCTGATTGACCGTGGGCCAAGTCTCCACTCC AGCCTCTGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACC GTGGGCCAAGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(122): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG02683.hp2 HG02735.hp1 HG02809.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0002c0002 a0002c0011 a0002c0014 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0003t0001 a0001c0006t0001 a0001c0006t0002 a0001c0010t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0011t0001 a0002c0014t0001 a0004c0005t0001 a0004c0005t0003	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0032 others(121): Show a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0344 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0004g0005 a0001c0001t0007g0113 a0001c0001t0008g0287 a0001c0003t0001g0031 a0001c0003t0001g0137 a0001c0003t0001g0191 a0001c0003t0001g0332 a0001c0003t0001g0333 a0001c0003t0001g0337 a0001c0006t0001g0211 a0001c0006t0002g0007 a0001c0006t0002g0011 a0001c0010t0002g0029 a0002c0002t0001g0051 a0002c0002t0001g0128 a0002c0002t0001g0220 a0002c0002t0001g0256 a0002c0002t0001g0307 a0002c0002t0001g0309 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0025 a0002c0002t0006g0014 a0002c0011t0001g0315 a0002c0014t0001g0272 a0004c0005t0001g0179 a0004c0005t0001g0241 a0004c0005t0003g0004	125	360	0.3472	-210	c.-12 others(20): Show c.-127-10077_-127-9868del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235099	GGTGGGCC others(203): Show GGTGGGCCAAGCCTCCACTCCAACCTCTGATGGACGGTGGGCCAAGCCTC CACTCCAGCCTCTGATTGACCGTGGGCCAAGTCTCCACTCCAGCCTCTGA TGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACCGTGGGCCAA GTCTCCACTCCAGCCTCTGATGGATGGTGGGCCAAGCCTCCACTCCAGCC TCTGATGGACC	G G	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18970.hp2 NA18971.hp2 others(1): Show NA18966.hp1 NA18970.hp2 NA18971.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0112 a0002c0002t0001g0115 a0002c0002t0001g0278 others(1): Show a0001c0001t0001g0112 a0002c0002t0001g0115 a0002c0002t0001g0278 a0002c0002t0005g0006	4	358	0.0112	-210	c.-12 others(20): Show c.-127-10136_-127-9927del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ADARB2_chr10_1172313_1742525	1238183	CCCTGCAT others(202): Show CCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCC GGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0025 a0001c0001t0010g0025	1	104	0.0096	-209	c.136 others(19): Show c.1361+3739_1361+3947del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
C11orf21_chr11_2290628_2306918	2291488	ATATTCAC others(202): Show ATATTCACAGAGGCGTGCCACCCGCAGCACCCCCAAAAACAACTCCCCGC TTCAGTATATTCACAGAGGCGTGCCACCCGCAGCACCCCCAAAAACAACT CCCCGCTTTATTCACAGAGGCGTGCCACCCGCAGCACCCCCAAAAACAAC TCCCCACTTTATTCGCAGAGGTGTGCCTCCCGCAGCACCCCCAAAAACAA CTCCCCGCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01109.hp1 HG01496.hp2 others(23): Show HG00323.hp2 HG01109.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01934.hp2 HG01978.hp2 HG02004.hp1 HG02080.hp1 HG02293.hp1 HG02486.hp1 HG02602.hp1 HG02698.hp2 HG03195.hp2 HG03209.hp2 HG03942.hp1 HG04115.hp1 NA18906.hp1 NA18952.hp2 NA18961.hp1 NA18969.hp1 NA18977.hp1 NA18984.hp2 NA18992.hp2 NA18994.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0003t0004 a0001c0003t0005 a0001c0003t0028	a0001c0001t0002g0002 a0001c0001t0006g0012 a0001c0001t0010g0014 others(7): Show a0001c0001t0002g0002 a0001c0001t0006g0012 a0001c0001t0010g0014 a0001c0001t0010g0083 a0001c0001t0013g0025 a0001c0003t0004g0004 a0001c0003t0005g0005 a0001c0003t0005g0023 a0001c0003t0005g0060 a0001c0003t0028g0057	26	424	0.0613	-209	c.62 others(11): Show c.6253_*6461del	C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding		4139		chr11	TogoVar
C13orf42_chr13_51077119_51116274	51080884	GGGCTGGG others(202): Show GGGCTGGGTCTGTTAGGACTAGAACATCTTGTGATGCTGTATGGTTGGCT AGATAATGGCTTCCCAAAGATGTTTCCATCCTAATCCCCAGAACCTGTGA ATGTCATTTTATATGGCAAAAGATATTTTGCAGATTTGATTAAATTAAGG ATTTGGAGATGGAGAGATTGCTCAGGTGAGAGTGATGTAATCACAAAGAT CCTTATAAAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02293.hp1 HG03654.hp2 HG01978.hp2 HG02293.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0068 a0001c0001t0005g0096 a0001c0001t0005g0068 a0001c0001t0005g0096	3	450	0.0067	-209	c.30 others(11): Show c.3058_*3266del	C13orf42	ENSG00000226792.8	transcript	ENST00000563710.7	protein_coding		1234		chr13	TogoVar
CBFA2T3_chr16_88869858_88982207	88955578	CCCAAGGC others(202): Show CCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCT GACCCTACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCACCCAA GGCTCCTGACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCT CAGCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTC CTGACCTCAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00642.hp2 others(36): Show HG00099.hp2 HG00140.hp2 HG00642.hp2 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG02602.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG03017.hp1 HG03195.hp2 HG03239.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18952.hp1 NA18994.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19079.hp2 NA19085.hp2 NA19088.hp1 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0004 a0007c0019	a0001c0001t0001 a0001c0001t0009 a0001c0001t0031 others(6): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0031 a0001c0003t0001 a0001c0003t0004 a0001c0005t0012 a0001c0005t0028 a0002c0004t0001 a0007c0019t0001	a0001c0001t0001g0014 a0001c0001t0001g0054 a0001c0001t0001g0066 others(36): Show a0001c0001t0001g0014 a0001c0001t0001g0054 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0093 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0258 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0009g0150 a0001c0001t0031g0248 a0001c0003t0001g0246 a0001c0003t0004g0232 a0001c0003t0004g0233 a0001c0005t0012g0237 a0001c0005t0028g0196 a0002c0004t0001g0140 a0002c0004t0001g0141 a0007c0019t0001g0197	39	268	0.1455	-209	c.151 others(19): Show c.151+20870_151+21078del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CHCHD6_chr3_126699240_126965420	126862772	CCTCCTCC others(202): Show CCTCCTCCTCCTCCACCATCACCACCTTCCCCTCTACCACCATCACCAAC TCCCCCTCCTCCACCATCACCACCTCCTCCTCCACCATCACCACCTCCTC CTCCACCATCACTACCTCCTCCTCCTCCACCATCACCACCTCCTCCTCCT CCACCATCACCACCTTCCCCTCTACCACCATCACCAACTCCCCCTCCTCC ACCATCACCA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	213	0.0047	-209	c.495 others(19): Show c.495+10044_495+10252del	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL4A2_chr13_110302284_110518209	110456926	CCGTGGGG others(202): Show CCGTGGGGCTGATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGG CTCATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCC CTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCCTGCGTCT GCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCATCTGCGTGGGA CCCCAGGCGT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp2 HG01891.hp1 others(10): Show HG01074.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03209.hp2 HG03453.hp2 NA18906.hp2 NA19240.hp2 NA20300.hp2	a0002 a0003 a0015 a0002 a0003 a0015	a0002c0054 a0002c0055 a0002c0056 others(9): Show a0002c0054 a0002c0055 a0002c0056 a0002c0121 a0003c0039 a0003c0040 a0003c0093 a0003c0094 a0003c0105 a0003c0112 a0003c0118 a0015c0096	a0002c0054t0045 a0002c0055t0016 a0002c0056t0004 others(10): Show a0002c0054t0045 a0002c0055t0016 a0002c0056t0004 a0002c0121t0016 a0003c0039t0008 a0003c0040t0001 a0003c0040t0002 a0003c0093t0010 a0003c0094t0025 a0003c0105t0011 a0003c0112t0006 a0003c0118t0036 a0015c0096t0010	a0002c0054t0045g0233 a0002c0055t0016g0250 a0002c0056t0004g0266 others(10): Show a0002c0054t0045g0233 a0002c0055t0016g0250 a0002c0056t0004g0266 a0002c0121t0016g0238 a0003c0039t0008g0027 a0003c0040t0001g0203 a0003c0040t0002g0261 a0003c0093t0010g0148 a0003c0094t0025g0175 a0003c0105t0011g0168 a0003c0112t0006g0068 a0003c0118t0036g0139 a0015c0096t0010g0209	13	288	0.0451	-209	c.134 others(17): Show c.1340-401_1340-193del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	20/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CSF2RA_chrX_1263814_1314935	1314583	CCCCACTG others(202): Show CCCCACTGCACCTGCCCAACCCCACTGCACCTGCCCAACCACACTGAACC TGCTCAACCCCACTTCACCTGCCCAACTGCACTGCACTTGCCCAACCCCT CTGTGCCTGCCCAACCCCACTGTGCCTGCCCAATCGCACTGCACCTGCCC AATCCCACTGCACCTGCCCAATCCCACTGCACCTGCCCAATCCCACTGCA CCTGCCCAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0091 a0001c0001t0004g0091	1	146	0.0068	-209	c.51 others(11): Show c.5105_*5313del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4649		chrX	TogoVar
DDX51_chr12_132131594_132149319	132135627	TCCTCCCA others(202): Show TCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCC CGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACG GTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCA CCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC CGGTGCCCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0007 a0002c0005t0005g0007	1	331	0.0030	-209	c.34 others(11): Show c.3436_*3644del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		966		chr12	TogoVar
DLGAP2_chr8_732628_1713476	1691936	GGTACCGA others(202): Show GGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGA GGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGA GGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATA CGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTG GTTTAAACGC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	38	0.0263	-209	c.279 others(17): Show c.2796+312_2796+520del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERFL_chr19_41902704_41933449	41914671	TCCCCTTC others(202): Show TCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTC TCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTG TCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCCTCCACCGTG TCTCCCCCCCTTTCCACCGTCTCTGTCTCTCCCCCCCTCCACCATCTCTG TCTCTCCCTC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18970.hp1 NA18747.hp2 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	2	327	0.0061	-209	c.-13 others(17): Show c.-13-1948_-13-1740del	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
FXN_chr9_69030752_69084076	69056773	TGCTCTGT others(202): Show TGCTCTGTTGCCCAGGCTGGAGTGTAGTGGTGTGATCTCAGCTCATCGCA ACCTCCACCTCCTGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCGAGTA GCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTTATATTT TTAGTAGAGACTGGGTTTTGCCATGTTGTCAGGCTAGTCTTGAACTCCTG ACCTCAGGTA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	430	0.0023	-209	c.384 others(17): Show c.384+3514_384+3722del	FXN	ENSG00000165060.15	transcript	ENST00000484259.3	protein_coding	3/4			chr9	TogoVar
IPCEF1_chr6_154149496_154361803	154357675	ATTATATA others(202): Show ATTATATATATATTATATATAATATATATATTATATATATATTATATATA TAATATATATATTATATATATTATATATATATAATATATAAAATATATAT ATTATATATATAAAATATATATAATATATATAATATATATATAAAATATA TATAATATATATAATATATATATAAAATATATATATAAAATATATATATA TATAAAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0026 a0001c0001t0007g0027	2	255	0.0078	-209	c.-12 others(11): Show c.-1274_-1066del	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		873		chr6	TogoVar
LMNB2_chr19_2423166_2461959	2432876	GGTCACCT others(202): Show GGTCACCTTGTCCCCTGCCTCGCATTGGCCGGCGGCCCCGTCACCCTGAC CCTGGTCACCCCATCAGCTGGGTCACCCCGTTACCCCCATGCCCCGGTCT TTCCGGTCACCTTGTCCCCTGCCTCGCATTGGCCGGCGGCCCCGTCACCC TGACCCTGATCACCCCCATCAGCTGGGTCACCCCGTTACCCCCATGCCCC GGTCATTCCA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	354	0.0028	-209	c.148 others(17): Show c.1483-562_1483-354del	LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11			chr19	TogoVar
LMNB2_chr19_2423166_2461959	2432959	CCCCCATG others(202): Show CCCCCATGCCCCGGTCTTTCCGGTCACCTTGTCCCCTGCCTCGCATTGGC CGGCGGCCCCGTCACCCTGACCCTGATCACCCCCATCAGCTGGGTCACCC CGTTACCCCCATGCCCCGGTCATTCCAGTCACCTTGTCCCCTGCCTCGCA TTGGCCGGCGGCCCCGTCACCCTGATCCTGGTCACCCCCATCAGCTGGGT CACCCCGTTA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0055 a0001c0002t0004g0055	1	354	0.0028	-209	c.148 others(17): Show c.1483-645_1483-437del	LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11			chr19	TogoVar
MYT1L_chr2_1784113_2336275	2034502	AACAATCT others(202): Show AACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTC CCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTC TCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACT TCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTA ACTTCTCCCC	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0002 a0001c0004t0003g0002	1	86	0.0116	-209	c.-15 others(21): Show c.-158+19267_-158+19475del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64174442	CCTGTAGT others(202): Show CCTGTAGTTGTGTCCATTCCCCCTCCCTGACTTCTCCTCCTGCAGCATCT TTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCA TCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCA TCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCA TCTTTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0048	1	151	0.0066	-209	c.-99 others(17): Show c.-99+9704_-99+9912del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
NXN_chr17_794310_984776	894081	TCCCTGGA others(202): Show TCCCTGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCAGAGGAAGC ATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGC CAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACG CCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGC ATCTCAAACG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG01071.hp1 others(2): Show HG00323.hp2 HG01070.hp1 HG01071.hp1 HG02809.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015	a0001c0001t0002g0136 a0001c0001t0002g0167 a0001c0001t0003g0025 others(2): Show a0001c0001t0002g0136 a0001c0001t0002g0167 a0001c0001t0003g0025 a0001c0001t0015g0239 a0001c0001t0015g0240	5	237	0.0211	-209	c.361 others(19): Show c.361-68212_361-68004del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948913	TCCCCCCT others(202): Show TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCGCGGGCTCCTCCTCTCCCCCCGGGCTCCTCCTCTCCCC CCGGGCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCT CTCCCCGCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCGTGGCC TCCTCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA20805.hp2 HG01074.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0160 a0001c0001t0001g0064 a0001c0001t0001g0160	2	174	0.0115	-209	c.360 others(19): Show c.360+30197_360+30405del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR4S1_chr11_48301223_48312152	48305863	ATATATAA others(202): Show ATATATAAGATATACATATTTATATATTATATATTTAAGATATATATATT TATATATTATAGATTTATATATATTATTATATATAATATAAATTATATAT TATATATATAATATATATTATAATATATATTATATATTATATATATATAA TATATATTATTATATATAATATATAATTTATATATATATATAATAATATA TTATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	424	0.0024	-209	c.-35 others(9): Show c.-359_-151del	OR4S1	ENSG00000176555.1	transcript	ENST00000319988.1	protein_coding		359		chr11	TogoVar
PEX5_chr12_7184686_7216459	7196814	ATAATTAT others(202): Show ATAATTATATATGTCACATATAATGTAATAATTATATATGTCACATATAA TGTAATAATTATATATGTCACATATAATGTAATAATTATATATGTCACAT ATAATGTAATAATTATATGTCACATATAATGTAATAATTATATGTCACAT ATAATGTAATAATTATATATGTCACATATAATGTAATAATTATATATGTC ACATATAATG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01496.hp2 NA20805.hp2 HG01261.hp2 HG01496.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0010g0269 a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0010g0269	3	425	0.0071	-209	c.449 others(17): Show c.449-2168_449-1960del	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPP6R2_chr22_50338327_50450090	50344496	CCAGTCAG others(202): Show CCAGTCAGTGCCCCCTCCAGTCAATTCCCCCCAGTCAGTGCCCCCTCCAG TCAATTCCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTG CCCCCTCCAGTCAGTTCCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCC CCAGTCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCCTAGTC AGTGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0336 a0001c0002t0011g0336	1	338	0.0030	-209	c.-14 others(18): Show c.-148+948_-148+1156del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKCB_chr16_23830983_24225611	24115187	ACAAGGAT others(202): Show ACAAGGATTTTAGCATTTATCCCAAGAGTATTTATCCCAAGGACTTTAGC ATTTATCCCAAGAGTATTTATCCCAAGGATTTTAGCATTTATCCCAAGAG CATTTATCCAAGAGCATTTATCCCAAAAGTATTTATCCCAATGATTTTAG CATTTATCCAAAGAGTATTTATCCCAAGGATTTTAGCATTTATCCCAAGA ATATTTATCC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp2 HG01167.hp1 others(9): Show HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG02132.hp2 HG02145.hp1 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG03710.hp2 NA18969.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0016	a0001c0001t0022 a0001c0001t0033 a0001c0001t0066 others(7): Show a0001c0001t0022 a0001c0001t0033 a0001c0001t0066 a0001c0002t0005 a0001c0002t0068 a0001c0003t0001 a0001c0004t0002 a0001c0005t0020 a0001c0009t0038 a0001c0016t0004	a0001c0001t0022g0119 a0001c0001t0033g0060 a0001c0001t0066g0007 others(9): Show a0001c0001t0022g0119 a0001c0001t0033g0060 a0001c0001t0066g0007 a0001c0002t0005g0066 a0001c0002t0068g0052 a0001c0003t0001g0065 a0001c0003t0001g0070 a0001c0004t0002g0009 a0001c0004t0002g0010 a0001c0005t0020g0037 a0001c0009t0038g0056 a0001c0016t0004g0133	12	146	0.0822	-209	c.918 others(17): Show c.918+2146_918+2354del	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	611867	CACGGGAC others(202): Show CACGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCACGGGACAGCCGCC CTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCA AGAGCAAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGACAGC CGCCTTTGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGC ATCAAGAGCA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01361.hp2 NA18973.hp2 HG00280.hp2 HG01361.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0032 a0001c0001t0002 a0001c0001t0032	a0001c0001t0002g0242 a0001c0001t0002g0305 a0001c0001t0032g0017 a0001c0001t0002g0242 a0001c0001t0002g0305 a0001c0001t0032g0017	3	348	0.0086	-209	c.143 others(17): Show c.143-5339_143-5131del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	612485	CACGGGAC others(202): Show CACGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCACGGGACAGCCGCC CTGGCCTGTAGAATCAAGAGCACGGGACAGCCGCCCTGGCCTGTAGAATC AAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGACAGC CGCCTTTGCCTGTAGAATCAAGAGCAGGGACAGCTGCCCTGGCCTGTAGC ATCAAGAGCA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA19001.hp1 NA19088.hp2 HG01261.hp1 NA19001.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0248 a0001c0001t0002g0255 a0001c0001t0002g0237 a0001c0001t0002g0248 a0001c0001t0002g0255	3	347	0.0086	-209	c.143 others(17): Show c.143-4721_143-4513del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASGEF1C_chr5_180095795_180214211	180113269	AGGATGGA others(202): Show AGGATGGACGGAGGGATCCAGGATGGACGGAGGGACCGGGGATGGACGGA GGGACCGGGGATGGACGGAGGGACCGGGGATGGACTGAGGGATCCGGGAT GGACGGAGGGACCGGGGATGGACGGAGGGACCGGGGATGGACGGAGGGAT CGGGGATGGATGGAGGGATCCGGGATGGACGGAGGGACCGGGGATGGACG GAGTGACCGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(23): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01358.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02135.hp1 HG02155.hp2 HG02523.hp2 HG02622.hp1 HG03098.hp1 HG03654.hp1 HG04199.hp2 NA18959.hp2 NA18966.hp2 NA18979.hp2 NA19007.hp1 NA19070.hp1 NA19091.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(15): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0048 a0001c0001t0064 a0001c0001t0065 a0001c0002t0003 a0001c0002t0004 a0001c0002t0025 a0001c0002t0026 a0001c0002t0028 a0001c0002t0042 a0001c0003t0013	a0001c0001t0003g0248 a0001c0001t0003g0260 a0001c0001t0003g0294 others(23): Show a0001c0001t0003g0248 a0001c0001t0003g0260 a0001c0001t0003g0294 a0001c0001t0003g0315 a0001c0001t0004g0284 a0001c0001t0004g0312 a0001c0001t0007g0163 a0001c0001t0012g0097 a0001c0001t0015g0341 a0001c0001t0019g0078 a0001c0001t0021g0123 a0001c0001t0021g0144 a0001c0001t0022g0210 a0001c0001t0048g0019 a0001c0001t0064g0093 a0001c0001t0065g0096 a0001c0002t0003g0179 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0004g0290 a0001c0002t0004g0307 a0001c0002t0025g0058 a0001c0002t0026g0077 a0001c0002t0028g0117 a0001c0002t0042g0006 a0001c0003t0013g0264	26	343	0.0758	-209	c.117 others(18): Show c.1179+968_1179+1176del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13			chr5	TogoVar
RASGEF1C_chr5_180095795_180214211	180113304	CCGGGGAT others(202): Show CCGGGGATGGACGGAGGGACCGGGGATGGACGGAGGGACCGGGGATGGAC TGAGGGATCCGGGATGGACGGAGGGACCGGGGATGGACGGAGGGACCGGG GATGGACGGAGGGATCGGGGATGGATGGAGGGATCCGGGATGGACGGAGG GACCGGGGATGGACGGAGTGACCGGGGATGGACGGAGGGACCGGGGATGG ACGGAGGGAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00423.hp1 others(75): Show HG00099.hp2 HG00323.hp1 HG00423.hp1 HG00733.hp2 HG00738.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18962.hp2 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA19003.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19066.hp1 NA19082.hp1 NA19085.hp1 NA19090.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0024 a0001c0001t0029 a0001c0001t0062 a0001c0001t0069 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0022 a0001c0002t0056 a0001c0002t0082 a0001c0003t0017 a0001c0004t0005 a0001c0004t0017 a0001c0004t0018 a0001c0004t0027	a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0183 others(75): Show a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0137 a0001c0001t0002g0142 a0001c0001t0003g0262 a0001c0001t0003g0291 a0001c0001t0006g0036 a0001c0001t0006g0038 a0001c0001t0006g0042 a0001c0001t0006g0046 a0001c0001t0007g0159 a0001c0001t0007g0162 a0001c0001t0007g0166 a0001c0001t0007g0168 a0001c0001t0007g0169 a0001c0001t0008g0347 a0001c0001t0008g0359 a0001c0001t0008g0361 a0001c0001t0009g0079 a0001c0001t0009g0086 a0001c0001t0010g0007 a0001c0001t0010g0010 a0001c0001t0010g0011 a0001c0001t0012g0088 a0001c0001t0014g0278 a0001c0001t0024g0021 a0001c0001t0029g0218 a0001c0001t0029g0229 a0001c0001t0029g0283 a0001c0001t0062g0076 a0001c0001t0069g0146 a0001c0002t0001g0240 a0001c0002t0001g0324 a0001c0002t0001g0334 a0001c0002t0006g0059 a0001c0002t0007g0165 a0001c0002t0010g0008 a0001c0002t0022g0174 a0001c0002t0056g0061 a0001c0002t0082g0365 a0001c0003t0017g0052 a0001c0004t0005g0194 a0001c0004t0017g0044 a0001c0004t0018g0047 a0001c0004t0018g0048 a0001c0004t0027g0151	78	352	0.2216	-209	c.117 others(18): Show c.1179+933_1179+1141del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13			chr5	TogoVar
RASGEF1C_chr5_180095795_180214211	180113344	GGGGATGG others(202): Show GGGGATGGACTGAGGGATCCGGGATGGACGGAGGGACCGGGGATGGACGG AGGGACCGGGGATGGACGGAGGGATCGGGGATGGATGGAGGGATCCGGGA TGGACGGAGGGACCGGGGATGGACGGAGTGACCGGGGATGGACGGAGGGA CCGGGGATGGACGGAGGGATCGGGGATGGACGGAGGGACCGGGGATGGAC GGAGGGATCC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01257.hp1 HG01258.hp1 others(9): Show HG01081.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01884.hp1 HG02055.hp1 HG02083.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0032 a0001c0002t0004 a0001c0002t0020 others(7): Show a0001c0001t0032 a0001c0002t0004 a0001c0002t0020 a0001c0002t0022 a0001c0002t0028 a0001c0002t0037 a0001c0002t0047 a0001c0002t0055 a0001c0002t0073 a0001c0002t0083	a0001c0001t0032g0060 a0001c0002t0004g0296 a0001c0002t0020g0089 others(9): Show a0001c0001t0032g0060 a0001c0002t0004g0296 a0001c0002t0020g0089 a0001c0002t0022g0220 a0001c0002t0028g0131 a0001c0002t0028g0132 a0001c0002t0037g0200 a0001c0002t0037g0216 a0001c0002t0047g0018 a0001c0002t0055g0049 a0001c0002t0073g0158 a0001c0002t0083g0344	12	365	0.0329	-209	c.117 others(18): Show c.1179+893_1179+1101del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13			chr5	TogoVar
RHBDL3_chr17_32260832_32329659	32276709	GGCCCTAG others(202): Show GGCCCTAGCACCTTACTCCGGCCCTAGCACCTTACTCCAGCCCTAGCACA GTACTCCGGCCCTAGCACCTTACTCCGGCCCTAGCACCTTACTCCGGCCC TAGCACAGTACTCCGGCCCTAGCACCTTACTCCGGCCCTAGCACCTTACT CCGGCCCTAGCACAGTACTGCGGCCCTAGCACCTTACTCCGGCCCTAGCA CCTTACTCCA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp2 HG02922.hp1 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0289 a0002c0002t0007g0290 a0002c0002t0007g0289 a0002c0002t0007g0290	2	304	0.0066	-209	c.136 others(17): Show c.136-7895_136-7687del	RHBDL3	ENSG00000141314.13	transcript	ENST00000269051.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTP5_chr2_241864729_241878823	241875012	CGAGGGTC others(202): Show CGAGGGTCCCAGGGGAAACCCCAATCCAGGGCCTCGGGGGCCAACTGCAG GGACAAAGGTCCAGGAAAAACCAGAATCCAGGCCTCGGGGGCCCAACTGC AGGGATGAGGGTCCAGGAGAAACCAGAATCCAGGCCTCGGGGGCCCAACT GCAGGGATGAGGGTCCAGGAGAAACCAGAATCCAGGCCTCGGGGGCCCAA CTGCAGGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	364	0.0027	-209	c.17 others(11): Show c.1739_*1947del	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1190		chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43280986	TCAGTCAC others(202): Show TCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCA GCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCAC CCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCT TCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCT GTCACCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0174 a0003c0001t0001g0174	1	220	0.0045	-209	c.484 others(18): Show c.484+9851_484+10059del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SH3GL3_chr15_83442341_83623743	83611867	ACTTTTGT others(202): Show ACTTTTGTGTCAAGGGAAAATTCACACACTGTCCCTCAGGCGGGCAGCAA CTTAATTTCTCTTTAGCTGAACTGAACTTGCTTGCAAGCCTCTATGTAGA CCAATGGCGGAAACAACTTAATCTTTTTTCCATTTCTGTTGTTGACCAAA AAAAAAAAAAAGCTTTAAAATCTTTTTTCCATTTCTTCTAATGGTGGAAA AAAGCATAAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01123.hp2 HG01175.hp1 others(40): Show HG00733.hp1 HG01123.hp2 HG01175.hp1 HG01256.hp1 HG01261.hp2 HG01433.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp2 HG02738.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp1 HG03710.hp1 HG03942.hp1 HG03942.hp2 NA18612.hp1 NA18612.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18957.hp2 NA18961.hp1 NA18964.hp1 NA18970.hp2 NA18980.hp1 NA18983.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19011.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0022 others(40): Show a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0022 a0001c0001t0002g0034 a0001c0001t0002g0050 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0087 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0143 a0001c0001t0002g0155 a0001c0001t0002g0160 a0001c0001t0002g0164 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0222 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0268 a0001c0001t0002g0286 a0001c0001t0002g0290 a0001c0001t0002g0299 a0001c0001t0002g0313	43	322	0.1335	-209	c.839 others(17): Show c.839-6211_839-6003del	SH3GL3	ENSG00000140600.17	transcript	ENST00000427482.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SIRPA_chr20_1890407_1945592	1901623	TTCTGATG others(202): Show TTCTGATGAAGCCCTCCACGAGATGGATTTTCCCTGCCAGGTGTCTTGCC AGGCCCTCAGTCCAGAGAGATGCAAAACAGCTGAGGTGGAAGTCGGAAAT GCTGCAGAATTGGTTCTTTGTGTCTGTAAGATTTCCTGGCACATTCGTTC GGGGGCGCAGGGTGTTAGATGGCTGCAGATTAGCGCCAAGAGCCCAAGGA GATCAGGTGC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0173 a0002c0002t0005g0173	1	416	0.0024	-209	c.79+ others(15): Show c.79+6100_79+6308del	SIRPA	ENSG00000198053.12	transcript	ENST00000358771.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLFN12L_chr17_35459254_35542678	35512090	GTTAAGAT others(202): Show GTTAAGATGGGAACAGAAAGTGGCAATTGTGTTTCTGGGAGAGAATTTAA AAAAGAGCTGATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGTGGTCTCAGCTCACTGCAAGCTC CGCCTCCCGGGTTCACACCATTCTCCTACCTCAGGGACTTGGTTCTATCA CCCGGTAAAC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(28): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG01261.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG03490.hp1 HG03688.hp1 NA18612.hp1 NA18747.hp2 NA18946.hp1 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18975.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18990.hp1 NA18991.hp2 NA18997.hp1 NA18998.hp1 NA19060.hp2 NA19066.hp1 NA19079.hp1 NA19086.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0004c0004 a0005c0006	a0001c0001t0004 a0001c0001t0006 a0001c0001t0032 others(15): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0032 a0001c0001t0133 a0001c0001t0134 a0001c0002t0002 a0001c0002t0010 a0001c0002t0026 a0002c0003t0106 a0002c0003t0123 a0003c0005t0007 a0004c0004t0003 a0004c0004t0009 a0004c0004t0101 a0004c0004t0114 a0004c0004t0115 a0005c0006t0036 a0005c0006t0090	a0001c0001t0004g0185 a0001c0001t0004g0190 a0001c0001t0004g0203 others(28): Show a0001c0001t0004g0185 a0001c0001t0004g0190 a0001c0001t0004g0203 a0001c0001t0004g0211 a0001c0001t0006g0199 a0001c0001t0006g0207 a0001c0001t0032g0252 a0001c0001t0032g0296 a0001c0001t0133g0357 a0001c0001t0134g0195 a0001c0002t0002g0192 a0001c0002t0010g0246 a0001c0002t0026g0187 a0002c0003t0106g0216 a0002c0003t0123g0217 a0003c0005t0007g0202 a0004c0004t0003g0160 a0004c0004t0003g0163 a0004c0004t0003g0189 a0004c0004t0003g0191 a0004c0004t0003g0200 a0004c0004t0003g0206 a0004c0004t0003g0209 a0004c0004t0003g0210 a0004c0004t0003g0212 a0004c0004t0009g0197 a0004c0004t0101g0201 a0004c0004t0114g0162 a0004c0004t0115g0213 a0005c0006t0036g0205 a0005c0006t0090g0215	31	358	0.0866	-209	c.86+ others(16): Show c.86+9980_86+10188del	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	2/4			chr17	TogoVar
SMAP2_chr1_40368727_40428322	40392609	AGCAGGGT others(202): Show AGCAGGGTCTTTGTGTAAAGGAAATTGGCTGGAGCTGAAATATCATAGGC TAACCAGGAGACAAGGAGCATTAAGGACACCCTTTTCCTTGACTTTCTAT TTAGGGTATTTAAATTACCTTTCTGTGATTTTCTGTAATAAGCAATCTAA AACTTAAATCCACATAAGCAAAATAGTCATACTAGGTTTTTAAAAAGTAT ACTAAATTAG	A A	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	398	0.0025	-209	c.104 others(19): Show c.104-14124_104-13916del	SMAP2	ENSG00000084070.12	transcript	ENST00000372718.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMOC2_chr6_168436184_168672992	168553860	CTCACATT others(202): Show CTCACATTTTGGTAGGAGGATTATTCCATGGGACGAGTCGATTAAAACTT GCTTTTGAACTGCGTGTGCTGTGCATGGTGCCCCTTCCCCACCAGGTATC AGCGTTTTTCACGTTTTGGTAGGAAGATTATTCCATGGGACGAGTCGGTT AAAACTCGCGTTTGAACTGCATGTGCACGGTGCCCCTTCCCCACCAGGTA TCAGCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03209.hp1 HG03516.hp2 others(1): Show HG01884.hp2 HG03209.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0014	a0001c0001t0001g0077 a0001c0001t0006g0128 a0001c0002t0002g0004 others(1): Show a0001c0001t0001g0077 a0001c0001t0006g0128 a0001c0002t0002g0004 a0001c0002t0014g0005	4	178	0.0225	-209	c.637 others(17): Show c.637+4697_637+4905del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1106451	CGGGTGCA others(202): Show CGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCA CTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGT CACTCGGGTGCAGGGTGTGGAGAGCTCCTTGGTAACAGTGGACACGTGCT GTCACTTGGGTGCAGGGTATGGAGAGCTCCTTGGTAATAGTGGACACACG CTGTCACTCG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02280.hp2 HG00673.hp2 HG02280.hp2	a0004 a0010 a0004 a0010	a0004c0004 a0010c0013 a0004c0004 a0010c0013	a0004c0004t0001 a0010c0013t0001 a0004c0004t0001 a0010c0013t0001	a0004c0004t0001g0040 a0010c0013t0001g0140 a0004c0004t0001g0040 a0010c0013t0001g0140	2	144	0.0139	-209	c.325 others(17): Show c.325+8044_325+8252del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TCF3_chr19_1604292_1657615	1628321	CAGGGGAT others(202): Show CAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACG	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04199.hp2 HG03654.hp1 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0268 a0001c0002t0002g0267 a0001c0002t0001g0268 a0001c0002t0002g0267	2	269	0.0074	-209	c.299 others(16): Show c.299-1104_299-896del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar

Search by Variant

Search

Search Results