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
EXOC2_chr6_480154_698139	521107	C C	CGGACATG others(193): Show CGGACATGAAAACCACCACCCACCGAGCGCCAACACTCACCGTCCACACT CGGACATGAAAACCACCACCCATCGAGCGCCAACACTCACCGTCCACACT CGGAGATGAAAACAACCACCCACCGAGCCCCGATACTCACCGTCCACACT CGGAGATGAAAACAACCGCCCACCGAGCGCCGACACTCACCGTCCACACT T	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19007.hp2 NA19055.hp2 HG00609.hp1 NA19007.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0006 a0001c0003t0006 a0001c0001t0005 a0001c0001t0006 a0001c0003t0006	a0001c0001t0005g0195 a0001c0001t0006g0033 a0001c0003t0006g0209 a0001c0001t0005g0195 a0001c0001t0006g0033 a0001c0003t0006g0209	3	230	0.0130	200	c.238 others(221): Show c.2380+11361_2380+11362insAAGTGTGGACGGTGAGTGTCGGCG CTCGGTGGGCGGTTGTTTTCATCTCCGAGTGTGGACGGTGAGTATCGGGG CTCGGTGGGTGGTTGTTTTCATCTCCGAGTGTGGACGGTGAGTGTTGGCG CTCGATGGGTGGTGGTTTTCATGTCCGAGTGTGGACGGTGAGTGTTGGCG CTCGGTGGGTGGTGGTTTTCATGTCC	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FAF2_chr5_176443385_176515074	176451819	T T	TATATACA others(193): Show TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACACATATATATATACATATATATATACA C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	268	0.0037	200	c.63+ others(215): Show c.63+3354_63+3355insCATATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATATATATA CATATATATATACACATATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAF2_chr5_176443385_176515074	176451819	T T	TATATACA others(193): Show TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACACATATATATATACATATATATATACA CATATATATACATATATATATACACATATATATATACATATATATATACA C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	268	0.0037	200	c.63+ others(215): Show c.63+3354_63+3355insCATATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATATATATA CATATATATATACACATATATATACATATATATATACACATATATATATA CATATATATATACACATATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAF2_chr5_176443385_176515074	176451821	T T	TATACATA others(193): Show TATACATATATATATACACATATATATATACATATATATATACACATATA TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACACATATATATATACATATATATATACA C	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	360	0.0028	200	c.63+ others(215): Show c.63+3354_63+3355insCATATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATATATATA CATATATATATACACATATATATATACATATATATATACACATATATATA TACATATATATATACACATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FMN2_chr1_240086883_240480187	240184948	T T	TCCCCTTC others(193): Show TCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTT C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0005 a0005	a0005c0035 a0005c0035	a0005c0035t0007 a0005c0035t0007	a0005c0035t0007g0024 a0005c0035t0007g0024	1	134	0.0075	200	c.193 others(219): Show c.1931-3227_1931-3226insCTTCTCTTTCTCCCTCCTATACCTTC CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCT CTTTCTCCCTCCTATACCTTCCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FTCD_chr21_46131779_46160579	46140636	C C	CAGGGAGT others(193): Show CAGGGAGTGTAAACCAACCCAGCACTCCTCGTCCACCTTCACGTGGCTCA CAGGGAGTGTAAACCAATCCAGCACTCCCCATCTGCCTTCACATTGCTCA CAGGGAGCGTAAACCAACCCAGCACTCCTCGTCCACCTTCACATTGTTCG CAGGGAATGTAAATCAACCCAGCCCTCCCCGTCCACCTTCGCATTGCTCA G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0067 a0002c0005t0001g0067	1	130	0.0077	200	c.126 others(219): Show c.1261-1714_1261-1713insCTGAGCAATGCGAAGGTGGACGGGGA GGGCTGGGTTGATTTACATTCCCTGCGAACAATGTGAAGGTGGACGAGGA GTGCTGGGTTGGTTTACGCTCCCTGTGAGCAATGTGAAGGCAGATGGGGA GTGCTGGATTGGTTTACACTCCCTGTGAGCCACGTGAAGGTGGACGAGGA GTGCTGGGTTGGTTTACACTCCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46140636	C C	CAGGGAGT others(193): Show CAGGGAGTGTAAACCAACCCAGCACTCCTCGTCCACCTTCACGTGGCTCA CAGGGAGTGTAAACCAATCCAGCACTCCCCGTCTGCCTTCACATTGCTCA CAGGGAGCGTAAACCAACCCAGCACTCCTCGTCCACCTTCACATTGTTCG CAGGGAATGTAAATCAACCCAGCCCTCCCCGTCCACCTTCGCATTGCTCA G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00423.hp1 others(95): Show HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18943.hp2 NA18944.hp1 NA18952.hp1 NA18954.hp2 NA18966.hp1 NA18970.hp2 NA18973.hp2 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp2 NA19066.hp1 NA19067.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0012 a0014 a0016 a0017	a0001c0001 a0001c0002 a0001c0010 others(19): Show a0001c0001 a0001c0002 a0001c0010 a0001c0026 a0001c0030 a0002c0004 a0002c0005 a0002c0014 a0003c0006 a0003c0012 a0003c0013 a0004c0007 a0005c0009 a0005c0015 a0006c0011 a0007c0021 a0008c0016 a0009c0023 a0012c0025 a0014c0031 a0016c0022 a0017c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0010t0003 a0001c0026t0001 a0001c0030t0002 a0002c0004t0004 a0002c0005t0001 a0002c0005t0002 a0002c0014t0001 a0003c0006t0002 a0003c0012t0001 a0003c0013t0002 a0004c0007t0001 a0005c0009t0001 a0005c0009t0009 a0005c0015t0001 a0006c0011t0001 a0007c0021t0001 a0008c0016t0001 a0009c0023t0001 a0012c0025t0001 a0014c0031t0001 a0016c0022t0002 a0017c0024t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0152 others(87): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0152 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0195 a0001c0001t0002g0061 a0001c0001t0002g0081 a0001c0001t0003g0090 a0001c0001t0003g0173 a0001c0001t0004g0202 a0001c0002t0001g0001 a0001c0002t0001g0015 a0001c0002t0001g0023 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0071 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0108 a0001c0002t0001g0127 a0001c0002t0001g0131 a0001c0002t0001g0144 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0156 a0001c0002t0001g0161 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0002g0143 a0001c0002t0004g0007 a0001c0002t0004g0204 a0001c0002t0004g0206 a0001c0002t0004g0207 a0001c0002t0004g0219 a0001c0002t0007g0020 a0001c0002t0007g0021 a0001c0002t0007g0024 a0001c0002t0007g0168 a0001c0010t0003g0191 a0001c0026t0001g0182 a0001c0030t0002g0189 a0002c0004t0004g0200 a0002c0004t0004g0201 a0002c0005t0001g0013 a0002c0005t0001g0028 a0002c0005t0001g0030 a0002c0005t0001g0066 a0002c0005t0001g0146 a0002c0005t0001g0192 a0002c0005t0002g0129 a0002c0014t0001g0027 a0003c0006t0002g0077 a0003c0006t0002g0078 a0003c0006t0002g0135 a0003c0006t0002g0136 a0003c0006t0002g0138 a0003c0012t0001g0118 a0003c0012t0001g0137 a0003c0013t0002g0009 a0004c0007t0001g0166 a0005c0009t0001g0029 a0005c0009t0009g0016 a0005c0015t0001g0060 a0006c0011t0001g0004 a0007c0021t0001g0035 a0008c0016t0001g0057 a0009c0023t0001g0011 a0012c0025t0001g0170 a0014c0031t0001g0026 a0016c0022t0002g0073 a0017c0024t0001g0089	98	227	0.4317	200	c.126 others(219): Show c.1261-1714_1261-1713insCTGAGCAATGCGAAGGTGGACGGGGA GGGCTGGGTTGATTTACATTCCCTGCGAACAATGTGAAGGTGGACGAGGA GTGCTGGGTTGGTTTACGCTCCCTGTGAGCAATGTGAAGGCAGACGGGGA GTGCTGGATTGGTTTACACTCCCTGTGAGCCACGTGAAGGTGGACGAGGA GTGCTGGGTTGGTTTACACTCCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GABRG3_chr15_26966181_27546984	27307449	A A	ATATAGGT others(193): Show ATATAGGTTTATATATTTATATATAAACAGGTTTATAGGTTTATATATTT ATATATAAACATAGGTTTATAGGTTTATATATTTATATATAAACAGGTTT ATAGGTTTATATATTTATATATAAACATAGGTTTATAGGTTTATATATTT ATATATAAACATAGGTTTATAGGTTTATATATTTATATATAAACATAGGT T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG01884.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0019 a0001c0005t0005 a0001c0003t0019 a0001c0005t0005	a0001c0003t0019g0064 a0001c0005t0005g0045 a0001c0003t0019g0064 a0001c0005t0005g0045	2	36	0.0556	200	c.271 others(219): Show c.271-19332_271-19331insGGTTTATAGGTTTATATATTTATATA TAAACATAGGTTTATAGGTTTATATATTTATATATAAACAGGTTTATAGG TTTATATATTTATATATAAACATAGGTTTATAGGTTTATATATTTATATA TAAACATAGGTTTATAGGTTTATATATTTATATATAAACATAGGTTTATA GGTTTATATATTTATATATAAACA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(193): Show TACATTGTATATATAAATTATATATACAATGTATATATAATTTATATATA CATTGTATATATAATGTATATATACATTGTATATACAATGTATATATAAA TTGTATATACAATGTATATATAAATTGTATATACAATGTATATATAAATT GTATATATAATTTATATATAAATTGTATATACAATTTATATATAAATTAT A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0061 a0001c0001t0001g0062	2	152	0.0132	200	c.976 others(217): Show c.976-2634_976-2633insACATTGTATATATAAATTATATATACAA TGTATATATAATTTATATATACATTGTATATATAATGTATATATACATTG TATATACAATGTATATATAAATTGTATATACAATGTATATATAAATTGTA TATACAATGTATATATAAATTGTATATATAATTTATATATAAATTGTATA TACAATTTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(193): Show TACATTGTATATATAAATTATATATACATTGTATATATAATTTATATATA CAATGTATATATAATTTATATATACATTGTATATACAATTTATATATAAA TTGTATATACAATGTATATATAAATTGTATATACAATGTATATATAAATT GTATATATAATTTATATATAAATTGTATATACAATTTATATATAAATTAT A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	151	0.0066	200	c.976 others(217): Show c.976-2634_976-2633insACATTGTATATATAAATTATATATACAT TGTATATATAATTTATATATACAATGTATATATAATTTATATATACATTG TATATACAATTTATATATAAATTGTATATACAATGTATATATAAATTGTA TATACAATGTATATATAAATTGTATATATAATTTATATATAAATTGTATA TACAATTTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(193): Show TACATTGTATATATAAATTATATATACATTGTATATATAATTTATATATA CATTGTATATACAATTTATATATACATTGTATATACAATTTATATATAAA TTGTATATACAATGTATATATAAATTGTATATACAATGTATATATAAATT GTATATATAATTTATATATAAATTGTATATACAATTTATATATAAATTAT A	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18969.hp2 HG04184.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0208 a0001c0001t0007g0194 a0001c0001t0004g0208 a0001c0001t0007g0194	2	152	0.0132	200	c.976 others(217): Show c.976-2634_976-2633insACATTGTATATATAAATTATATATACAT TGTATATATAATTTATATATACATTGTATATACAATTTATATATACATTG TATATACAATTTATATATAAATTGTATATACAATGTATATATAAATTGTA TATACAATGTATATATAAATTGTATATATAATTTATATATAAATTGTATA TACAATTTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(193): Show TACATTGTATATATAAATTATATATACATTGTATATATAATTTATATATA CATTGTATATATAATTTATATATACATTGTATATACAATGTATATATAAA TTGTATATACAATGTATATATAAATTGTATATACAATGTATATATAAATT GTATATATAATTTATATATAAATTGTATATACAATTTATATATAAATTAT A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03688.hp1 HG01978.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0026 a0001c0001t0002 a0001c0001t0026	a0001c0001t0002g0142 a0001c0001t0026g0138 a0001c0001t0002g0142 a0001c0001t0026g0138	2	152	0.0132	200	c.976 others(217): Show c.976-2634_976-2633insACATTGTATATATAAATTATATATACAT TGTATATATAATTTATATATACATTGTATATATAATTTATATATACATTG TATATACAATGTATATATAAATTGTATATACAATGTATATATAAATTGTA TATACAATGTATATATAAATTGTATATATAATTTATATATAAATTGTATA TACAATTTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(193): Show TACATTGTATATATAAATTATATATACATTGTATATATAATTTATATATA CATTGTATATATAATTTATATATACATTGTATATACAATTTATATATAAA TTGTATATACAATGTATATATAAATTGTATATACAATGTATACATAAATT GTATATATAATTTATATATAAATTGTATATACAATTTATATATAAATTAT A	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	151	0.0066	200	c.976 others(217): Show c.976-2634_976-2633insACATTGTATATATAAATTATATATACAT TGTATATATAATTTATATATACATTGTATATATAATTTATATATACATTG TATATACAATTTATATATAAATTGTATATACAATGTATATATAAATTGTA TATACAATGTATACATAAATTGTATATATAATTTATATATAAATTGTATA TACAATTTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(193): Show TACATTGTATATATAAATTATATATACATTGTATATATAATTTATATATA CATTGTATATATAATTTATATATACATTGTATATACAATTTATATATAAA TTGTATATACAATGTATATATAAATTGTATATACAATGTATATATAAATT GTATATATAATTTATATATAAATTGTATATACAATGTATATATAAATTAT A	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0159 a0001c0001t0018g0159	1	151	0.0066	200	c.976 others(217): Show c.976-2634_976-2633insACATTGTATATATAAATTATATATACAT TGTATATATAATTTATATATACATTGTATATATAATTTATATATACATTG TATATACAATTTATATATAAATTGTATATACAATGTATATATAAATTGTA TATACAATGTATATATAAATTGTATATATAATTTATATATAAATTGTATA TACAATGTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(193): Show TACATTGTATATATAAATTATATATACATTGTATATATAATTTATATATA CATTGTATATATAATTTATATATACATTGTATATACAATTTATATATAAA TTGTATATACAATGTATATATAAATTGTATATACAATGTATATATAAATT GTATATATAATTTATATATAAATTGTATATACAATTTATATATAAATTAT A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00738.hp2 others(11): Show HG00140.hp1 HG00642.hp2 HG00738.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01358.hp2 HG01516.hp2 HG02129.hp1 HG02523.hp1 HG02738.hp1 NA18612.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0030 a0001c0001t0055 a0001c0001t0065	a0001c0001t0001g0046 a0001c0001t0002g0130 a0001c0001t0002g0131 others(11): Show a0001c0001t0001g0046 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0006g0126 a0001c0001t0006g0140 a0001c0001t0014g0136 a0001c0001t0016g0176 a0001c0001t0021g0214 a0001c0001t0030g0073 a0001c0001t0055g0067 a0001c0001t0065g0059	14	164	0.0854	200	c.976 others(217): Show c.976-2634_976-2633insACATTGTATATATAAATTATATATACAT TGTATATATAATTTATATATACATTGTATATATAATTTATATATACATTG TATATACAATTTATATATAAATTGTATATACAATGTATATATAAATTGTA TATACAATGTATATATAAATTGTATATATAATTTATATATAAATTGTATA TACAATTTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(193): Show TACATTGTATATATAATTTATATATACAATGTATATATAATTTATATATA CATTGTATATATAAATTATATATACAATGTATATATAATTTATATATACA ATGTATATATAAATTATATATACATTGTATATACAATTTATATATACATT GTATATACAATTTATATATAAATTGTATATACAATTTATATATAAATTAT A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0199 a0001c0001t0010g0199	1	151	0.0066	200	c.976 others(217): Show c.976-2634_976-2633insACATTGTATATATAATTTATATATACAA TGTATATATAATTTATATATACATTGTATATATAAATTATATATACAATG TATATATAATTTATATATACAATGTATATATAAATTATATATACATTGTA TATACAATTTATATATACATTGTATATACAATTTATATATAAATTGTATA TACAATTTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(193): Show TACATTGTATATATAATTTATATATACATTGTATATATAATTTATATATA CATTGTATATACAATTTATATATAAATTGTATATACAATTTATATATAAA TTGTATATACAATGTATATATAAATTGTATATACAATGTATATATAAATT GTATATATAATTTATATATAAATTGTATATACAATTTATATATAAATTAT A	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0192 a0001c0001t0007g0192	1	151	0.0066	200	c.976 others(217): Show c.976-2634_976-2633insACATTGTATATATAATTTATATATACAT TGTATATATAATTTATATATACATTGTATATACAATTTATATATAAATTG TATATACAATTTATATATAAATTGTATATACAATGTATATATAAATTGTA TATACAATGTATATATAAATTGTATATATAATTTATATATAAATTGTATA TACAATTTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALP_chr19_56171008_56190775	56176046	C C	CTGCCAGC others(193): Show CTGCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0161 a0001c0002t0024g0161	1	408	0.0025	200	c.-45 others(207): Show c.-45_-44insCCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG ATGCCAGCTGCA	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/6	1051	INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176046	C C	CTGCCAGC others(193): Show CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19011.hp1 NA19081.hp1 others(1): Show NA18939.hp1 NA19011.hp1 NA19081.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0032 a0001c0002t0007g0137 a0001c0002t0007g0144 a0001c0002t0007g0032 a0001c0002t0007g0137 a0001c0002t0007g0144	4	411	0.0097	200	c.-40 others(213): Show c.-40+79_-40+80insGCGGCTGCCAGCTGCAGCGGGGTGAGAGCCTA GGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTA GGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTA GGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTA GGCCAGGAGGGCACAGGG	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176046	C C	CTGCCAGC others(193): Show CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01167.hp1 HG01257.hp1 others(8): Show HG00280.hp1 HG01167.hp1 HG01257.hp1 HG01358.hp1 HG02602.hp2 HG02723.hp1 HG02735.hp1 HG04199.hp1 NA18953.hp1 NA18975.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0005 a0001c0002t0005 a0002c0003t0005 a0001c0001t0005 a0001c0002t0005 a0002c0003t0005	a0001c0001t0005g0140 a0001c0001t0005g0142 a0001c0001t0005g0205 others(7): Show a0001c0001t0005g0140 a0001c0001t0005g0142 a0001c0001t0005g0205 a0001c0002t0005g0005 a0001c0002t0005g0030 a0001c0002t0005g0033 a0001c0002t0005g0035 a0001c0002t0005g0158 a0001c0002t0005g0160 a0002c0003t0005g0199	11	418	0.0263	200	c.-40 others(214): Show c.-40+75_-40+274dupCAGGGTCGGCTGCCAGCTGCAGCGGGGTGAG AGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAG AGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCAGCGGGGTGAG AGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAG AGCCTAGGCCAGGAGGGCA	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176058	G G	GCGGGGTG others(193): Show GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGCTGCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGCTGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGCTGCCAGCTGCA C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18966.hp1 NA19004.hp2 NA18939.hp2 NA18966.hp1 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0011 a0002c0003t0011 a0001c0002t0011 a0002c0003t0011	a0001c0002t0011g0008 a0001c0002t0011g0153 a0002c0003t0011g0200 a0001c0002t0011g0008 a0001c0002t0011g0153 a0002c0003t0011g0200	3	298	0.0101	200	c.-40 others(213): Show c.-40+33_-40+34insCTGCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCACAGGGGCGGCTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCACAGGGGCGGCTGCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGG	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176296	A A	ATGCCAGC others(193): Show ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGTGG CTGCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGTGG ATGCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGTGG ATCCAAGCTGCACTGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGTGG C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0310 a0001c0001t0019g0310	1	412	0.0024	200	c.-40 others(215): Show c.-40+235_-40+236insGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGTGGCTGCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGTGGATGCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGTGGATCCAAGCTGCACTGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGTGGCT	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176648	C C	CCCAGCTG others(193): Show CCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGAT CCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGAT GCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGAT GCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGTGGCT G	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	329	0.0030	200	c.-39 others(215): Show c.-39-421_-39-420insCAGCTGCACCGGGGTGAGAGCCTAGGCCAG GAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAG GAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAG GAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAG GAGGGCAGAGGGGTGGCTGC	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALR1_chr18_77244848_77282900	77259174	G G	GGTGGCGA others(193): Show GGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTG GTGATGTTGGTGTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGACGGT GATGATGATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTG GTGGTGGTCACAGTGGTGGTGATGTTGGTGTTGGTGGTGGTCATGGTGGT C	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0044 a0001c0001t0016g0044	1	206	0.0049	200	c.732 others(217): Show c.732+2951_732+2952insGTGGCGATTGTGGTGATGGTGGTGGATG GTGGTGGTGGTCACAGTGGTGGTGATGTTGGTGTTGGTGGTGGTCATGGT GGTCATGGTGGTGATGACGGTGATGATGATGGTGGTCATGGTGGCGATTG TGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGATGTTGGT GTTGGTGGTGGTCATGGTGGTC	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2			chr18	TogoVar
GALR1_chr18_77244848_77282900	77259178	G G	GCGATTGT others(193): Show GCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGA TGTTGGTGTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGATGGTCATG GTGGTGATGACGGTGATGATGATGGTGGTCATGGTGGCGATTGTGGTGAT GGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGGTGGTC A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0057 a0001c0001t0100g0057	1	340	0.0029	200	c.732 others(217): Show c.732+2955_732+2956insCGATTGTGGTGATGGTGGTGGATGGTGG TGGTGGTCACAGTGGTGGTGATGTTGGTGTTGGTGGTGGTCATGGTGGTC ATGGTGGTGATGATGGTCATGGTGGTGATGACGGTGATGATGATGGTGGT CATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTG GTGGTGGTGTTGGTGGTGGTCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2			chr18	TogoVar
GATD3_chr21_44128683_44150711	44147674	G G	GCCCCCCA others(193): Show GCCCCCCAGCACCCCCACCACTCCCAGCTGCTCCACACTCAACCCCCAGC TCCCCCACCACTCCCAGCTGCTCCACACTCAACCCCCAGCTCCCCACCAC TCCCAGCTGCTCCACACTCAACCCCCAGCTCCCCCACCACTCCCAACTCC TCCACACTCAGCCCCCAGCTCCCCCACCACTCCCAGCTCCTCCACAGTCA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	54	0.0185	200	c.27 others(211): Show c.2725_*2726insCCCCCCAGCACCCCCACCACTCCCAGCTGCTCCA CACTCAACCCCCAGCTCCCCCACCACTCCCAGCTGCTCCACACTCAACCC CCAGCTCCCCACCACTCCCAGCTGCTCCACACTCAACCCCCAGCTCCCCC ACCACTCCCAACTCCTCCACACTCAGCCCCCAGCTCCCCCACCACTCCCA GCTCCTCCACAGTCAA	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding		1964		chr21	TogoVar
GATD3_chr21_44128683_44150711	44147683	A A	ACCCCCAC others(193): Show ACCCCCACCACTCCCAGCTGCTCCACACTCAACCCCCAGCTCCCCCACCA CTCCCACTGCTCCACACTCAACCCCCAGCTCCCCCACCACTCCCAGCTGC TCCACACTCAACCCCCCAGCTCCCCCACCACTCCCAACTCCTCCACACTC AGCCCCCAGCTCCCCCACCACTCCCAGCTCCTCCACAGTCAACCCCCAGC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	33	0.0303	200	c.27 others(211): Show c.2734_*2735insCCCCCACCACTCCCAGCTGCTCCACACTCAACCC CCAGCTCCCCCACCACTCCCACTGCTCCACACTCAACCCCCAGCTCCCCC ACCACTCCCAGCTGCTCCACACTCAACCCCCCAGCTCCCCCACCACTCCC AACTCCTCCACACTCAGCCCCCAGCTCCCCCACCACTCCCAGCTCCTCCA CAGTCAACCCCCAGCT	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding		1973		chr21	TogoVar
GATD3_chr21_44128683_44150711	44147683	A A	ACCCCCAC others(193): Show ACCCCCACCACTCCCAGCTGCTCCACACTCAACCCCCAGCTCCCCCACCA CTCCCAGCTGCTCCACACTCAACCCCCAGCTCCCCCACCACTCCCAGCTG CTCCACACTCAACCCCCAGCTCCCCCACCACTCCCAACTCCTCCACACTC AGCCCCCAGCTCCCCCACCACTCCCAGCTCCTCCACAGTCAACCCCCAGC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01358.hp1 HG02148.hp1 others(13): Show HG01081.hp2 HG01358.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02717.hp1 HG02809.hp1 HG02922.hp2 HG03139.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 NA18612.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0003 others(2): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005	a0001c0001t0002g0020 a0002c0002t0002g0004 a0002c0002t0002g0027 others(7): Show a0001c0001t0002g0020 a0002c0002t0002g0004 a0002c0002t0002g0027 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0004g0003 a0002c0002t0004g0021 a0002c0002t0005g0003	16	48	0.3333	200	c.27 others(211): Show c.2734_*2735insCCCCCACCACTCCCAGCTGCTCCACACTCAACCC CCAGCTCCCCCACCACTCCCAGCTGCTCCACACTCAACCCCCAGCTCCCC CACCACTCCCAGCTGCTCCACACTCAACCCCCAGCTCCCCCACCACTCCC AACTCCTCCACACTCAGCCCCCAGCTCCCCCACCACTCCCAGCTCCTCCA CAGTCAACCCCCAGCT	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding		1973		chr21	TogoVar
GDF2_chr10_47317454_47332588	47329529	T T	TGTGGTGT others(193): Show TGTGGTGTGTGCACACTGAGGGGGGTGAGTGATGTGTGTGCACACTGGGA TGAGTGATGCGGTGTGTGCACACTGGGGTGAGTGATGCGGTGTGTGCACC CTGGGATGAGTGATGCGGTGTGTGCACACTGGGGTGAGTGATGCGGTGTG TGCACCCTGGGATGAGTGATGCGGTGTGTGCACACTGGGGTGAGTGATGT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	72	0.0139	200	c.37 others(211): Show c.3745_*3746insGTGGTGTGTGCACACTGAGGGGGGTGAGTGATGT GTGTGCACACTGGGATGAGTGATGCGGTGTGTGCACACTGGGGTGAGTGA TGCGGTGTGTGCACCCTGGGATGAGTGATGCGGTGTGTGCACACTGGGGT GAGTGATGCGGTGTGTGCACCCTGGGATGAGTGATGCGGTGTGTGCACAC TGGGGTGAGTGATGTG	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		1942		chr10	TogoVar
GET4_chr7_871554_901436	890359	C C	CGAGCGGG others(193): Show CGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGGAGCGCGAGCGGGT GTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGG GGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAG TGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCG A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	379	0.0026	200	c.467 others(215): Show c.467-559_467-558insTAGGACGGGGTCTGGGAGTGGAGGGGAGCG CGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTG GAGGGAGCGAGAGCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GNAQ_chr9_77711097_78036811	77894338	T T	TTATATAT others(193): Show TTATATATATTTAATAGAAAATATATAATATATATATTTAATAGAAAATA TATAATATATATTTAATAGAAAATATATATAATATATATATTTAATAGAA AAAATATATTATATATATTTAATAGAAAAATATATATATTATATATAATT TAATATTAAAAATATATATAATATATATATTTAATATTAAAATATATATA A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0043 a0001c0001t0077g0043	1	150	0.0067	200	c.321 others(219): Show c.321+27822_321+27823insTTATATATATTTTAATATTAAATATA TATATTATATATATTTTTAATATTAAATTATATATAATATATATATTTTT CTATTAAATATATATAATATATTTTTTCTATTAAATATATATATTATATA TATTTTCTATTAAATATATATTATATATTTTCTATTAAATATATATATTA TATATTTTCTATTAAATATATATA	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GNAQ_chr9_77711097_78036811	77894338	T T	TTATATAT others(193): Show TTATATATATTTAATAGAAAATATATAATATATATATTTAATAGAAAATA TATAATATATATTTAATAGAAAATATATATAATATATATTTAATAGAAAA AATATATAATATATATATTTAATAGAAAAATATATATATTATATATAATT TAATATTAAAAATATATATAATATATATATTTAATATTAAAATATATATA A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00735.hp2 others(8): Show HG00099.hp1 HG00323.hp2 HG00735.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG02083.hp2 HG02922.hp1 HG03942.hp1 HG04115.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0020 a0001c0001t0025 others(5): Show a0001c0001t0016 a0001c0001t0020 a0001c0001t0025 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038	a0001c0001t0016g0007 a0001c0001t0016g0009 a0001c0001t0016g0010 others(8): Show a0001c0001t0016g0007 a0001c0001t0016g0009 a0001c0001t0016g0010 a0001c0001t0020g0001 a0001c0001t0020g0011 a0001c0001t0025g0044 a0001c0001t0034g0003 a0001c0001t0035g0004 a0001c0001t0036g0005 a0001c0001t0037g0008 a0001c0001t0038g0002	11	160	0.0688	200	c.321 others(219): Show c.321+27822_321+27823insTTATATATATTTTAATATTAAATATA TATATTATATATATTTTTAATATTAAATTATATATAATATATATATTTTT CTATTAAATATATATATTATATATTTTTTCTATTAAATATATATTATATA TATTTTCTATTAAATATATATTATATATTTTCTATTAAATATATATATTA TATATTTTCTATTAAATATATATA	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GNAQ_chr9_77711097_78036811	77894359	T T	TATATAAT others(193): Show TATATAATATATATATTTAATAGAAAATATATAATATATATTTAATAGAA AATATATATAATATATATATTTAATAGAAAAAATATATAATATATATATT TAATAGAAAAATATATATATTATATATAATTTAATATTAAATATATATAT AATATATATATTTAATATTAAAATATATAATATATATATTTAATAGAAAA A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	143	0.0070	200	c.321 others(219): Show c.321+27801_321+27802insTTTTTCTATTAAATATATATATTATA TATTTTAATATTAAATATATATATTATATATATATTTAATATTAAATTAT ATATAATATATATATTTTTCTATTAAATATATATATTATATATTTTTTCT ATTAAATATATATATTATATATATTTTCTATTAAATATATATTATATATT TTCTATTAAATATATATATTATAT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GNAQ_chr9_77711097_78036811	77894359	T T	TATATAAT others(193): Show TATATAATATATATATTTAATAGAAAATATATAATATATATTTAATAGAA AATATATATAATATATATATTTAATAGAAAAAATATATAATATATATATT TAATAGAAAAATATATATATTATATATAATTTAATATTAAATATATATAT AATATATATATTTAATATTAAAATATATATAATATATATTTAATAGAAAA A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	143	0.0070	200	c.321 others(219): Show c.321+27801_321+27802insTTTTTCTATTAAATATATATTATATA TATTTTAATATTAAATATATATATTATATATATATTTAATATTAAATTAT ATATAATATATATATTTTTCTATTAAATATATATATTATATATTTTTTCT ATTAAATATATATATTATATATATTTTCTATTAAATATATATTATATATT TTCTATTAAATATATATATTATAT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GOLGA3_chr12_132763914_132833869	132793238	T T	TGACCCAC others(193): Show TGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCG CACGGGACCCGCACTCGGAGGGCTCCACACTGACCCACCGCACGGGACCC GCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAG GGCTCCACACAGACCCACCCCACGGGACCCGCACTCGGAGGGCTCCACAC A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG04228.hp2 HG03927.hp1 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0052 a0002c0002t0002 a0002c0002t0052	a0002c0002t0002g0279 a0002c0002t0052g0282 a0002c0002t0002g0279 a0002c0002t0052g0282	2	162	0.0123	200	c.247 others(219): Show c.2470-1946_2470-1945insTGTGTGGAGCCCTCCGAGTGCGGGTC CCGTGGGGTGGGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGCGGTG GGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGCGGTGGGTCAGTGTG GAGCCCTCCGAGTGCGGGTCCCGTGCGGTGGGTCTGTGTGGAGCCCTCCG AGTGCGGGTCCCGTGCGGTGGGTC	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132793363	C C	CACCGCAC others(193): Show CACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCACACGG GATCTGAACTCGGAGGGCTCCACACAGACAGACCGCACGGGACCCGCACT CGGAGGGCTCCACACAGACCCACCCCACGGGACCCGCACTCGGAGGGCTC CACACAGACCCACCACACGGGATCTGAACTCGGAGGGCTCCACACAGACA G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp2 HG03540.hp2 others(3): Show HG02559.hp2 HG02965.hp2 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0062 a0001c0003t0063 others(1): Show a0001c0003t0014 a0001c0003t0062 a0001c0003t0063 a0001c0003t0065	a0001c0003t0014g0071 a0001c0003t0014g0072 a0001c0003t0014g0073 others(3): Show a0001c0003t0014g0071 a0001c0003t0014g0072 a0001c0003t0014g0073 a0001c0003t0062g0069 a0001c0003t0063g0054 a0001c0003t0065g0070	6	305	0.0197	200	c.247 others(219): Show c.2470-2071_2470-2070insCTGTCTGTGTGGAGCCCTCCGAGTTC AGATCCCGTGTGGTGGGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTG GGGTGGGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGCGGTCTGTCT GTGTGGAGCCCTCCGAGTTCAGATCCCGTGTGGTGGGTCTGTGTGGAGCC CTCCGAGTGCGGGTCCCGTGCGGT	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132793398	A A	AGACCCAC others(193): Show AGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCG CACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCC GCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAG GGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACAC T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	306	0.0033	200	c.247 others(219): Show c.2470-2106_2470-2105insAGTGTGGAGCCCTCCGAGTGCGGGTC CCGTGCGGTGGGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGCGGTG GGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGCGGTGGGTCTGTGTG GAGCCCTCCGAGTGCGGGTCCCGTGCGGTGGGTCTGTGTGGAGCCCTCCG AGTGCGGGTCCCGTGCGGTGGGTC	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132793478	A A	AGACCCAC others(193): Show AGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCG CACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCC GCACTCGGAGGGCTCCACACAGACCCACCGCACGGGATCTGCACTCGGAG GGCTCCATACAGACCCACGGCACAGGACCCGCACTCGGAGGGCTCCACAC T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0019 a0001c0022t0019	a0001c0022t0019g0191 a0001c0022t0019g0191	1	305	0.0033	200	c.247 others(219): Show c.2470-2186_2470-2185insAGTGTGGAGCCCTCCGAGTGCGGGTC CTGTGCCGTGGGTCTGTATGGAGCCCTCCGAGTGCAGATCCCGTGCGGTG GGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGCGGTGGGTCTGTGTG GAGCCCTCCGAGTGCGGGTCCCGTGCGGTGGGTCTGTGTGGAGCCCTCCG AGTGCGGGTCCCGTGCGGTGGGTC	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GOLM1_chr9_86021146_86104558	86053681	T T	TCCACACA others(193): Show TCCACACACCACACACCATTCCAAACCATGCTACACACCACACACCACAC CACACACTCCACACCAGAACACACACCATGCCACACCACTCCACACAACA CGCCACACACCATTCCACACCAAACCACACCCCACACACTCCACACCACA CACAACCACTCCATACCAAACCACACACCATACCACACTCCACACTCCAC A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00597.hp2 others(64): Show HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00741.hp1 HG01106.hp1 HG01255.hp1 HG01256.hp1 HG01358.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02257.hp1 HG02602.hp1 HG02698.hp1 HG02965.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03540.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18982.hp2 NA18986.hp2 NA18992.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19009.hp2 NA19011.hp2 NA19054.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19067.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19083.hp1 NA20300.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0002c0006 a0002c0007 a0006c0014	a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 others(12): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0004t0011 a0002c0002t0001 a0002c0002t0003 a0002c0002t0009 a0002c0002t0010 a0002c0006t0005 a0002c0007t0005 a0002c0007t0018 a0006c0014t0003	a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0011g0125 others(64): Show a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0011g0125 a0001c0001t0013g0109 a0001c0001t0013g0132 a0001c0001t0014g0252 a0001c0001t0016g0057 a0001c0001t0020g0007 a0001c0004t0011g0016 a0001c0004t0011g0017 a0002c0002t0001g0285 a0002c0002t0003g0221 a0002c0002t0003g0228 a0002c0002t0003g0251 a0002c0002t0003g0258 a0002c0002t0003g0259 a0002c0002t0003g0260 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0263 a0002c0002t0003g0264 a0002c0002t0003g0266 a0002c0002t0003g0267 a0002c0002t0003g0269 a0002c0002t0003g0270 a0002c0002t0003g0272 a0002c0002t0003g0273 a0002c0002t0003g0274 a0002c0002t0003g0275 a0002c0002t0003g0276 a0002c0002t0003g0279 a0002c0002t0003g0282 a0002c0002t0003g0284 a0002c0002t0003g0286 a0002c0002t0003g0287 a0002c0002t0003g0288 a0002c0002t0003g0289 a0002c0002t0003g0290 a0002c0002t0003g0291 a0002c0002t0003g0292 a0002c0002t0003g0293 a0002c0002t0003g0294 a0002c0002t0003g0296 a0002c0002t0003g0299 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0306 a0002c0002t0003g0307 a0002c0002t0003g0309 a0002c0002t0003g0310 a0002c0002t0003g0311 a0002c0002t0003g0312 a0002c0002t0003g0313 a0002c0002t0009g0265 a0002c0002t0009g0280 a0002c0002t0009g0281 a0002c0002t0009g0295 a0002c0002t0010g0122 a0002c0006t0005g0035 a0002c0007t0005g0025 a0002c0007t0005g0066 a0002c0007t0005g0085 a0002c0007t0005g0089 a0002c0007t0005g0093 a0002c0007t0005g0095 a0002c0007t0018g0060 a0006c0014t0003g0298	67	110	0.6091	200	c.310 others(217): Show c.310-1091_310-1090insTGTGGAGTGTGGAGTGTGGTATGGTGTG TGGTTTGGTATGGAGTGGTTGTGTGTGGTGTGGAGTGTGTGGGGTGTGGT TTGGTGTGGAATGGTGTGTGGCGTGTTGTGTGGAGTGGTGTGGCATGGTG TGTGTTCTGGTGTGGAGTGTGTGGTGTGGTGTGTGGTGTGTAGCATGGTT TGGAATGGTGTGTGGTGTGTGG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GPHN_chr14_66503147_67186803	66683369	T T	TATATATG others(193): Show TATATATGTTCATATATATATATGTTCATATATATGTTCATATATATATG TTCATATATATGTATGTTCATATATATATGTACATATATATGTTCATATA TGTATGTTCATATATATATGTACATATATATGTTCATATATGTATGTTCA TATATATATGTACATATATATGTACATATATATATGTTCATATATATGTT C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19080.hp1 NA18983.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0196 a0001c0001t0001g0198	2	113	0.0177	200	c.143 others(217): Show c.143+2190_143+2191insGTTCATATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTATGTTCATATATATATGTACAT ATATATGTTCATATATGTATGTTCATATATATATGTACATATATATGTTC ATATATGTATGTTCATATATATATGTACATATATATGTACATATATATAT GTTCATATATATGTTCATATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	66683369	T T	TATATATG others(193): Show TATATATGTTCATATATATATATGTTCATATATATGTTCATATATATATG TTCATATATATGTATGTTCATATATATATGTACATATATATGTTCATATA TGTATGTTCATATATATATGTACATATATATGTTCATATATGTATGTTCA TATATATATGTACATATATATGTTCATATATATATGTTCATATATATGTT C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	112	0.0089	200	c.143 others(217): Show c.143+2190_143+2191insGTTCATATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTATGTTCATATATATATGTACAT ATATATGTTCATATATGTATGTTCATATATATATGTACATATATATGTTC ATATATGTATGTTCATATATATATGTACATATATATGTTCATATATATAT GTTCATATATATGTTCATATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	66683415	T T	TATATATA others(193): Show TATATATATGTACATATATATGTTCATATATGTATGTTCATATATATATG TACATATATATGTTCATATATGTATGTTCATATATATATGTACATATATA TGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATA TATATGTTCATATATATATGTTCATATATATATGTTCATATATATATGTT C	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA20300.hp1 HG01071.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0213 a0001c0001t0001g0183 a0001c0001t0001g0213	2	185	0.0108	200	c.143 others(217): Show c.143+2238_143+2239insGTACATATATATGTTCATATATGTATGT TCATATATATATGTACATATATATGTTCATATATGTATGTTCATATATAT ATGTACATATATATGTTCATATATATATGTTCATATATATGTTCATATAT ATATGTTCATATATATATGTTCATATATATATGTTCATATATATATGTTC ATATATATATGTTCATATATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GRHL1_chr2_9946693_10007277	9998583	T T	TGTGTACA others(193): Show TGTGTACACATATATATACACATATATGTGTACACATATATATACACATA TATGTGTACACATATATATACACATATATGTGTACACATATATATACACA TATATGTGTACACATATATATACACATATATGTGTACACATATATATACA CATATATGTGTACACATATATATACACATATATGTGTACACATATATATA C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01993.hp1 HG00597.hp2 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0152 a0002c0002t0002g0311 a0002c0002t0002g0152 a0002c0002t0002g0311	2	384	0.0052	200	c.167 others(217): Show c.1678-382_1678-381insGTGTACACATATATATACACATATATGT GTACACATATATATACACATATATGTGTACACATATATATACACATATAT GTGTACACATATATATACACATATATGTGTACACATATATATACACATAT ATGTGTACACATATATATACACATATATGTGTACACATATATATACACAT ATATGTGTACACATATATATAC	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15			chr2	TogoVar
GRM5_chr11_88499642_89070982	88687579	A A	ATATATTA others(193): Show ATATATTATATATATATTATATATATATTATATATATATATTATATATAT ATTATATATATATTATATATATATTATATATATATTATATATATATTATA TATATATTATATATATATTATATATATAATATATATATAATATATATATT ATATATATTATATATATAATATATATATTATATATATTATATATATTATA T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG03139.hp1 HG02486.hp2 HG02572.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0149 a0001c0001t0004g0010 a0001c0001t0004g0160 a0001c0001t0003g0149 a0001c0001t0004g0010 a0001c0001t0004g0160	3	91	0.0330	200	c.912 others(219): Show c.912-34177_912-34176insATATAATATATATAATATATATAATA TATATATTATATATATAATATATATAATATATATATTATATATATATTAT ATATATAATATATATATAATATATATATAATATATATATAATATATATAT AATATATATATAATATATATATAATATATATATAATATATATATATAATA TATATATAATATATATATAATATA	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GRP_chr18_59215158_59235771	59233701	A A	ATATATAA others(193): Show ATATATAATATGTTATATAATATATAATATAATATATGATATATCACATG TTATATAATATATAATATATTATATAACATATGATATATCATATATTATA TAACATGTTATATAACATATAACATGTTATATAACATGCTATATAACATA TAACATGTTATATAACATGTTGTATAATATGTTATATAATATGTTATATG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	283	0.0035	200	c.32 others(211): Show c.3233_*3234insTATATAATATGTTATATAATATATAATATAATAT ATGATATATCACATGTTATATAATATATAATATATTATATAACATATGAT ATATCATATATTATATAACATGTTATATAACATATAACATGTTATATAAC ATGCTATATAACATATAACATGTTATATAACATGTTGTATAATATGTTAT ATAATATGTTATATGT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		2931		chr18	TogoVar
GRP_chr18_59215158_59235771	59233701	A A	ATATATAA others(193): Show ATATATAATATGTTATATAATATATAATATAATATATGATATATCACATG TTATATAATATATAATATATTATATAATATATTATATAACATATGATATA TCATATATTATATAACATGTTATATAACATATAACATATTATATAACATG CTATATAACATATAACATGTTATATAACATGTTGTATAATATGTTATATG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	283	0.0035	200	c.32 others(211): Show c.3233_*3234insTATATAATATGTTATATAATATATAATATAATAT ATGATATATCACATGTTATATAATATATAATATATTATATAATATATTAT ATAACATATGATATATCATATATTATATAACATGTTATATAACATATAAC ATATTATATAACATGCTATATAACATATAACATGTTATATAACATGTTGT ATAATATGTTATATGT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		2931		chr18	TogoVar
GXYLT2_chr3_72883046_72981915	72966792	A A	ATTTTTGT others(193): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0254 a0001c0001t0005g0254	1	294	0.0034	200	c.977 others(215): Show c.977-742_977-741insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTTGTATTTTT	GXYLT2	ENSG00000172986.13	transcript	ENST00000389617.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH3_chr20_62209960_62225278	62213519	A A	ATGGGGGA others(193): Show ATGGGGGAAGGGAGAGCAAGGATGGGGGGGAAGGAGAGTGGGGATGGGTG GGGGAAGGAGAGTGGGGATGGGGGAAGGGAGAGCAGGGATGGGGGGGAAG GAGAGCGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGGGAGGGAGAGC GGGGATGGGGAAGGGAGAGCAAGGATGGGGGGGAAGGAGAGTGGGGATGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	322	0.0031	200	c.24 others(211): Show c.2486_*2487insCCCATCCCCACTCTCCTTCCCCCCCATCCTTGCT CTCCCTTCCCCATCCCCGCTCTCCCTCCCCCATCCCCGCTCTCCTTCCCC CACCCATCCCCGCTCTCCTTCCCCCCCATCCCTGCTCTCCCTTCCCCCAT CCCCACTCTCCTTCCCCCACCCATCCCCACTCTCCTTCCCCCCCATCCTT GCTCTCCCTTCCCCCA	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1440		chr20	TogoVar
HSF1_chr8_144286604_144319720	144313660	G G	GCGCCTCC others(193): Show GCGCCTCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCACCGCCTCCCCG CACCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCGCCT CCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCGCCGC CTCCCCGCGCCGCCTCCCCGCGCCGCCGCGCCGCGCCGCCTCCCCGCCTC C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0192	1	270	0.0037	200	c.124 others(215): Show c.1248+45_1248+46insGCCTCCCCGCCTCCCCGCGCCTCCCCGCCT CCCCGCACCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCACCGCCTCCC CGCCTCCCCGCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTC CCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCGCGCC GCGCCGCCTCCCCGCCTCCC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(193): Show TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATTTTATATAATATATAATATATATTATATTATATATA ATATATTTTATATAATATATAATATATATTATATTATATATAATATATTT TATATAATATATAATATATATTATATTATATATAATATATTTTATATAAT A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	251	0.0040	200	c.661 others(217): Show c.661+7422_661+7423insTATTATATAAAATATATTATATATAATA TAATATATATTATATATTATATAAAATATATTATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATTATATATAATATAATATATATTATATATTATATAA AATATATTATATATAATATAAT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar

Search by Variant

Search

Search Results