Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
GLT1D1_chr12_128848478_128989968	128874098	T T	TTCTTTCT others(40): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0063 a0001c0002t0017g0063	1	190	0.0053	47	c.69- others(62): Show c.69-1813_69-1812insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTCTCTCTCTCT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128879459	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	305	0.0033	47	c.217 others(64): Show c.217+3399_217+3400insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLYAT_chr11_58703757_58736943	58719755	C C	CAATGTTA others(40): Show CAATGTTAGAAGGACTTTAAAAGCATATACAGGAAGATACATGGATGT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	362	0.0028	47	c.82- others(62): Show c.82-4379_82-4333dupACATCCATGTATCTTCCTGTATATGCTTTT AAAGTCCTTCTAACATT	GLYAT	ENSG00000149124.11	transcript	ENST00000344743.8	protein_coding	2/5			chr11	TogoVar
GMDS_chr6_1618806_2250605	1652444	T T	TTATATAT others(40): Show TTATATATAATATATATTATTTATATATATTATATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	126	0.0079	47	c.988 others(66): Show c.988-27905_988-27904insTTATATATAATATATATAATATATAT AAATAATATATATTATATATA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMPPA_chr2_219493891_219511989	219511299	A A	ACTTTGCC others(40): Show ACTTTGCCCAAACAAAATCTCCATGCCTCCTCCCAGGAACCTTGAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	380	0.0026	47	c.45 others(58): Show c.4501_*4502insCTTTGCCCAAACAAAATCTCCATGCCTCCTCCCA GGAACCTTGAGCC	GMPPA	ENSG00000144591.20	transcript	ENST00000313597.10	protein_coding		4311		chr2	TogoVar
GNE_chr9_36209441_36263448	36242732	G G	GTTTTTTT others(40): Show GTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTTATGCTTGTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	170	0.0059	47	c.616 others(64): Show c.616+3298_616+3299insAACAAGCATAAAGACTCCATCTCAAAAA AAAAAAAAAAAAAAAAAAA	GNE	ENSG00000159921.20	transcript	ENST00000642385.2	protein_coding	3/11			chr9	TogoVar
GNE_chr9_36209441_36281978	36242732	G G	GTTTTTTT others(40): Show GTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTTATGCTTGTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	160	0.0063	47	c.709 others(64): Show c.709+3298_709+3299insAACAAGCATAAAGACTCCATCTCAAAAA AAAAAAAAAAAAAAAAAAA	GNE	ENSG00000159921.20	transcript	ENST00000396594.8	protein_coding	3/11			chr9	TogoVar
GNG2_chr14_51855612_51974795	51942590	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02738.hp1 NA18991.hp2 others(1): Show HG01433.hp1 HG02738.hp1 NA18991.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0072 a0001c0001t0001 a0001c0001t0006 a0001c0002t0072	a0001c0001t0001g0207 a0001c0001t0001g0240 a0001c0001t0006g0159 others(1): Show a0001c0001t0001g0207 a0001c0001t0001g0240 a0001c0001t0006g0159 a0001c0002t0072g0196	4	367	0.0109	47	c.-29 others(64): Show c.-29-8058_-29-8057insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	GNG2	ENSG00000186469.9	transcript	ENST00000556766.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
GNG7_chr19_2506219_2707694	2622697	A A	AGGGGAAC others(40): Show AGGGGAACCCAACGCGAGCAACGCGGCAGAGAGGGAGGCTTCCGGGAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG03130.hp1 HG02145.hp2 HG02258.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0039 a0001c0001t0060 a0001c0001t0021 a0001c0001t0039 a0001c0001t0060	a0001c0001t0021g0044 a0001c0001t0039g0052 a0001c0001t0060g0023 a0001c0001t0021g0044 a0001c0001t0039g0052 a0001c0001t0060g0023	3	195	0.0154	47	c.-78 others(66): Show c.-78+23526_-78+23527insATCCCGGAAGCCTCCCTCTCTGCCGC GTTGCTCGCGTTGGGTTCCCC	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4			chr19	TogoVar
GNG7_chr19_2506219_2707694	2622697	A A	AGGGGAAC others(40): Show AGGGGAACCCAATGCGAGCAACGCGGCAGAGAGGGAGGCTTCCGGGAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG02559.hp2 others(4): Show HG01243.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02818.hp1 HG03209.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0018 a0001c0001t0024 others(3): Show a0001c0001t0012 a0001c0001t0018 a0001c0001t0024 a0001c0001t0045 a0001c0001t0079 a0001c0001t0086	a0001c0001t0012g0128 a0001c0001t0012g0158 a0001c0001t0018g0138 others(4): Show a0001c0001t0012g0128 a0001c0001t0012g0158 a0001c0001t0018g0138 a0001c0001t0024g0056 a0001c0001t0045g0004 a0001c0001t0079g0180 a0001c0001t0086g0005	7	199	0.0352	47	c.-78 others(66): Show c.-78+23480_-78+23526dupATCCCGGAAGCCTCCCTCTCTGCCGC GTTGCTCGCATTGGGTTCCCC	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4			chr19	TogoVar
GNG7_chr19_2506219_2707694	2639538	A A	AGGAAGGA others(40): Show AGGAAGGAATGGGGTGTTTCTGGAGGTTTTTGTGGCTGGATGTCAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(136): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01070.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG02004.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18952.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA19000.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(88): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096	a0001c0001t0001g0033 a0001c0001t0001g0057 a0001c0001t0001g0082 others(136): Show a0001c0001t0001g0033 a0001c0001t0001g0057 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0173 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0003g0126 a0001c0001t0003g0199 a0001c0001t0003g0202 a0001c0001t0004g0058 a0001c0001t0004g0201 a0001c0001t0005g0187 a0001c0001t0005g0189 a0001c0001t0006g0063 a0001c0001t0006g0068 a0001c0001t0006g0092 a0001c0001t0006g0132 a0001c0001t0006g0147 a0001c0001t0007g0051 a0001c0001t0008g0050 a0001c0001t0008g0176 a0001c0001t0009g0142 a0001c0001t0010g0123 a0001c0001t0011g0034 a0001c0001t0011g0119 a0001c0001t0011g0130 a0001c0001t0012g0048 a0001c0001t0012g0128 a0001c0001t0012g0158 a0001c0001t0013g0022 a0001c0001t0013g0041 a0001c0001t0013g0166 a0001c0001t0014g0197 a0001c0001t0015g0075 a0001c0001t0016g0090 a0001c0001t0017g0025 a0001c0001t0017g0042 a0001c0001t0017g0156 a0001c0001t0018g0014 a0001c0001t0018g0038 a0001c0001t0018g0138 a0001c0001t0019g0003 a0001c0001t0019g0155 a0001c0001t0019g0182 a0001c0001t0020g0135 a0001c0001t0020g0153 a0001c0001t0021g0044 a0001c0001t0021g0045 a0001c0001t0022g0031 a0001c0001t0022g0077 a0001c0001t0023g0006 a0001c0001t0023g0133 a0001c0001t0024g0056 a0001c0001t0025g0185 a0001c0001t0026g0148 a0001c0001t0027g0047 a0001c0001t0028g0118 a0001c0001t0028g0151 a0001c0001t0029g0081 a0001c0001t0029g0205 a0001c0001t0030g0010 a0001c0001t0030g0039 a0001c0001t0031g0159 a0001c0001t0032g0001 a0001c0001t0033g0002 a0001c0001t0034g0036 a0001c0001t0035g0012 a0001c0001t0037g0170 a0001c0001t0039g0052 a0001c0001t0040g0104 a0001c0001t0041g0162 a0001c0001t0042g0129 a0001c0001t0043g0167 a0001c0001t0044g0193 a0001c0001t0045g0004 a0001c0001t0046g0186 a0001c0001t0047g0017 a0001c0001t0048g0053 a0001c0001t0049g0054 a0001c0001t0050g0016 a0001c0001t0051g0011 a0001c0001t0052g0020 a0001c0001t0053g0037 a0001c0001t0054g0144 a0001c0001t0055g0024 a0001c0001t0056g0140 a0001c0001t0057g0145 a0001c0001t0058g0040 a0001c0001t0059g0184 a0001c0001t0060g0023 a0001c0001t0061g0141 a0001c0001t0062g0171 a0001c0001t0063g0131 a0001c0001t0064g0177 a0001c0001t0065g0021 a0001c0001t0066g0203 a0001c0001t0067g0134 a0001c0001t0068g0146 a0001c0001t0069g0018 a0001c0001t0070g0035 a0001c0001t0071g0192 a0001c0001t0073g0183 a0001c0001t0074g0019 a0001c0001t0075g0139 a0001c0001t0076g0055 a0001c0001t0077g0200 a0001c0001t0078g0046 a0001c0001t0079g0180 a0001c0001t0080g0013 a0001c0001t0081g0009 a0001c0001t0082g0015 a0001c0001t0084g0168 a0001c0001t0085g0127 a0001c0001t0086g0005 a0001c0001t0087g0007 a0001c0001t0088g0181 a0001c0001t0089g0049 a0001c0001t0090g0043 a0001c0001t0091g0157 a0001c0001t0093g0030 a0001c0001t0094g0190 a0001c0001t0095g0165 a0001c0001t0096g0028	139	203	0.6847	47	c.-78 others(64): Show c.-78+6639_-78+6685dupATTTGACATCCAGCCACAAAAACCTCCA GAAACACCCCATTCCTTCC	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4			chr19	TogoVar
GNG7_chr19_2506219_2707694	2639563	G G	GTTTTTGT others(40): Show GTTTTTGTGGCTGGATGTCAAATGGAAGGAATGGGGTGTTTCTGGAGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01981.hp2 HG02004.hp1 others(5): Show HG01081.hp1 HG01981.hp2 HG02004.hp1 HG02273.hp2 HG03017.hp1 HG03239.hp2 HG04115.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0026 a0001c0001t0038	a0001c0001t0001g0084 a0001c0001t0002g0062 a0001c0001t0002g0085 others(5): Show a0001c0001t0001g0084 a0001c0001t0002g0062 a0001c0001t0002g0085 a0001c0001t0002g0106 a0001c0001t0004g0086 a0001c0001t0004g0149 a0001c0001t0026g0094 a0001c0001t0038g0064	8	203	0.0394	47	c.-78 others(64): Show c.-78+6660_-78+6661insACTCCAGAAACACCCCATTCCTTCCATT TGACATCCAGCCACAAAAA	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4			chr19	TogoVar
GOLM2_chr15_44283719_44420758	44288493	C C	CGAGAGAG others(40): Show CGAGAGAGAACCCGGAGACAGACAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02886.hp1 HG03195.hp2 others(1): Show HG02258.hp1 HG02886.hp1 HG03195.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0090 a0001c0002t0004g0104 a0001c0002t0004g0105 others(1): Show a0001c0002t0001g0090 a0001c0002t0004g0104 a0001c0002t0004g0105 a0001c0002t0004g0118	4	137	0.0292	47	c.-53 others(56): Show c.-537_-536insGAGAGAGAACCCGGAGACAGACAGAGAGAGAGAGAG AGAGAGAGAGA	GOLM2	ENSG00000166734.20	transcript	ENST00000299957.11	protein_coding		225		chr15	TogoVar
GPATCH2_chr1_217421992_217636090	217524904	G G	GGGGGAGG others(40): Show GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03688.hp1 HG03654.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0028 a0001c0001t0001g0029	2	116	0.0172	47	c.109 others(68): Show c.1099-10016_1099-10015insTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPATCH2_chr1_217421992_217636090	217584344	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	79	0.0127	47	c.109 others(68): Show c.1098+25976_1098+25977insATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTTTT	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPM6A_chr4_175627937_175817264	175721036	T T	TATATTAT others(40): Show TATATTATATATTATATATTATATATTATATATTATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	268	0.0037	47	c.38- others(64): Show c.38-19270_38-19269insGTATATATATATATAATATATAATATAT AATATATAATATATAATAT	GPM6A	ENSG00000150625.17	transcript	ENST00000393658.7	protein_coding	1/6			chr4	TogoVar
GPR146_chr7_1039546_1064261	1039547	G G	GGGGTGTC others(40): Show GGGGTGTCGGCCCCCCGCCCGGCCAGCCGTCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	2	432	0.0046	47	c.-51 others(58): Show c.-5136_-5135insGGGTGTCGGCCCCCCGCCCGGCCAGCCGTCCCGT CCGGGAGGGAGGT	GPR146	ENSG00000164849.10	transcript	ENST00000444847.2	protein_coding		4998		chr7	TogoVar
GRAMD4_chr22_46615386_46684785	46635547	G G	GGCCGTGT others(40): Show GGCCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGGA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0121 a0001c0001t0023g0121	1	189	0.0053	47	c.163 others(64): Show c.163-2293_163-2292insGCCGTGTCCTCCCTGCCCCCACCCCCGG CCACTCCTGTCCTGGGGGA	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18			chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635572	C C	CCGGCCAC others(40): Show CCGGCCACTCCTGTCCTGGGAGGCTGTATCCTCCCTGCCCCCACCCCT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0070 a0001c0002t0004g0070	1	231	0.0043	47	c.163 others(64): Show c.163-2268_163-2267insCGGCCACTCCTGTCCTGGGAGGCTGTAT CCTCCCTGCCCCCACCCCT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18			chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635640	C C	CGTGTCCT others(40): Show CGTGTCCTCCCTGCCCCCGACCCCCAGCCACTCCTGTCCTGGAGGACT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02976.hp2 HG02622.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0033 a0001c0001t0004 a0001c0001t0033	a0001c0001t0004g0052 a0001c0001t0033g0051 a0001c0001t0004g0052 a0001c0001t0033g0051	2	197	0.0102	47	c.163 others(64): Show c.163-2183_163-2182insGACCCCCAGCCACTCCTGTCCTGGAGGA CTGTGTCCTCCCTGCCCCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635733	C C	CTGTGTCC others(40): Show CTGTGTCCTCCCTGCCCCCACTCCCAGCCACCCCTGTCCAGGGGAGCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00733.hp2 others(13): Show HG00140.hp2 HG00323.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01261.hp1 HG02109.hp1 HG02698.hp2 HG06807.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0035 others(2): Show a0001c0001t0002 a0001c0001t0025 a0001c0001t0035 a0001c0001t0056 a0001c0001t0063	a0001c0001t0002g0197 a0001c0001t0002g0248 a0001c0001t0002g0258 others(13): Show a0001c0001t0002g0197 a0001c0001t0002g0248 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0320 a0001c0001t0025g0244 a0001c0001t0025g0260 a0001c0001t0035g0255 a0001c0001t0056g0303 a0001c0001t0063g0305	16	270	0.0593	47	c.163 others(64): Show c.163-2107_163-2106insTGTGTCCTCCCTGCCCCCACTCCCAGCC ACCCCTGTCCAGGGGAGCT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18			chr22	TogoVar
GREB1_chr2_11529045_11647788	11538987	C C	CTCTCTTC others(40): Show CTCTCTTCTCCTCCTTTCTCCCTTCTCCTCCCTTCTCTTCTCTTCTCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02622.hp1 HG02922.hp2 others(5): Show HG01070.hp2 HG02622.hp1 HG02922.hp2 HG03139.hp2 HG03471.hp1 HG03516.hp2 NA19030.hp1 NA19240.hp1	a0005 a0007 a0008 others(2): Show a0005 a0007 a0008 a0017 a0023	a0005c0002 a0007c0006 a0008c0016 others(2): Show a0005c0002 a0007c0006 a0008c0016 a0017c0023 a0023c0074	a0005c0002t0055 a0007c0006t0017 a0008c0016t0001 others(2): Show a0005c0002t0055 a0007c0006t0017 a0008c0016t0001 a0017c0023t0015 a0023c0074t0015	a0005c0002t0055g0014 a0007c0006t0017g0015 a0008c0016t0001g0012 others(5): Show a0005c0002t0055g0014 a0007c0006t0017g0015 a0008c0016t0001g0012 a0008c0016t0001g0013 a0017c0023t0015g0068 a0017c0023t0015g0071 a0017c0023t0015g0073 a0023c0074t0015g0301	8	306	0.0261	47	c.-16 others(66): Show c.-162+4743_-162+4789dupCTCCTTTCTCCCTTCTCCTCCCTTCT CTTCTCTTCTCTTCTCTTCTC	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GREB1_chr2_11529045_11647788	11539032	T T	TCTTCTCT others(40): Show TCTTCTCTTCTCCTCCTTTCTCCCTTCTCCTCCCTTCTCTTCTCCTCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03130.hp1 HG02965.hp2 HG03130.hp1	a0008 a0009 a0008 a0009	a0008c0044 a0009c0029 a0008c0044 a0009c0029	a0008c0044t0039 a0009c0029t0020 a0008c0044t0039 a0009c0029t0020	a0008c0044t0039g0011 a0009c0029t0020g0016 a0008c0044t0039g0011 a0009c0029t0020g0016	2	299	0.0067	47	c.-16 others(66): Show c.-162+4789_-162+4790insCTCCTTTCTCCCTTCTCCTCCCTTCT CTTCTCCTCCCTTCTCTTCTC	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GREM2_chr1_240484573_240617155	240563013	T T	TGTGTGTA others(40): Show TGTGTGTATGTGTGTATATGAGTGTGTATGTGTGTATGTGTATAGTGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	1	376	0.0027	47	c.-2+ others(64): Show c.-2+48824_-2+48870dupTCACTATACACATACACACATACACACT CATATACACACATACACAC	GREM2	ENSG00000180875.5	transcript	ENST00000318160.5	protein_coding	1/1			chr1	TogoVar
GRHL2_chr8_101487439_101674726	101509141	C C	CCTTTCTT others(40): Show CCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18992.hp1 NA18942.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0057 a0001c0001t0004 a0001c0001t0057	a0001c0001t0004g0263 a0001c0001t0057g0264 a0001c0001t0004g0263 a0001c0001t0057g0264	2	272	0.0074	47	c.20+ others(64): Show c.20+16355_20+16356insTCTTTCTTTCTTTCTTTCTTTTTCTTTC TTTCTTTTCTCTCTCTCTT	GRHL2	ENSG00000083307.12	transcript	ENST00000646743.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
GRHL2_chr8_101487439_101674726	101509141	C C	CCTTTCTT others(40): Show CCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTTCTCTCTTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18995.hp2 NA19087.hp1 HG02300.hp1 NA18995.hp2 NA19087.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0004 a0001c0001t0012 a0003c0004t0012 a0001c0001t0004 a0001c0001t0012 a0003c0004t0012	a0001c0001t0004g0258 a0001c0001t0012g0266 a0003c0004t0012g0265 a0001c0001t0004g0258 a0001c0001t0012g0266 a0003c0004t0012g0265	3	273	0.0110	47	c.20+ others(64): Show c.20+16355_20+16356insTCTTTCTTTCTTTCTTTCTTTTTCTTTC TTTCTTTTCTCTCTTTCTT	GRHL2	ENSG00000083307.12	transcript	ENST00000646743.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
GRHL2_chr8_101487439_101674726	101509145	C C	CCTTTCTT others(40): Show CCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTTCTCTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02922.hp1 HG03540.hp1 HG02647.hp2 HG02922.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0029g0252 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0029g0252	3	268	0.0112	47	c.20+ others(64): Show c.20+16359_20+16360insTCTTTCTTTCTTTCTTTTTCTTTCTTTC TTTTCTCTCTTTCTTTCTT	GRHL2	ENSG00000083307.12	transcript	ENST00000646743.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
GRHL2_chr8_101487439_101674726	101509187	T T	TCTTTCTT others(40): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0283 a0001c0001t0005g0283	1	204	0.0049	47	c.20+ others(64): Show c.20+16398_20+16399insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTCTTCTTTCTTTC	GRHL2	ENSG00000083307.12	transcript	ENST00000646743.1	protein_coding	1/15			chr8	TogoVar
GRIA3_chrX_123179278_123495915	123429777	T T	TATCAAGA others(40): Show TATCAAGACACCAGAAGTTTCCATATGAAGTAATTAACCACTTAGGAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0011 a0003c0004t0011	a0003c0004t0011g0009 a0003c0004t0011g0009	1	205	0.0049	47	c.207 others(66): Show c.2076+1652_2076+1653insAGTTTCCATATGAAGTAATTAACCAC TTAGGACATCAAGACACCAGA	GRIA3	ENSG00000125675.20	transcript	ENST00000620443.2	protein_coding	12/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRIK1_chr21_29531933_29944996	29888149	C C	CCTTTCTT others(40): Show CCTTTCTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	161	0.0062	47	c.118 others(66): Show c.118+51233_118+51234insAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAAAAGAAAG	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GRK6_chr5_177421676_177447891	177422481	T T	TCGCTCTT others(40): Show TCGCTCTTCTCATCTCCCAGTATTCCACTAACCCTCCCTATGCAACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	47	c.-43 others(58): Show c.-4365_-4364insCGCTCTTCTCATCTCCCAGTATTCCACTAACCCT CCCTATGCAACGC	GRK6	ENSG00000198055.11	transcript	ENST00000355472.10	protein_coding		4194		chr5	TogoVar
GRTP1_chr13_113319163_113369130	113364148	G G	GAGGGGGG others(40): Show GAGGGGGGGGGGGGGGGCGGGGGGGGGCTGGGGAGGAGGGGCGCTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0013 a0013	a0013c0008 a0013c0008	a0013c0008t0001 a0013c0008t0001	a0013c0008t0001g0054 a0013c0008t0001g0054	1	286	0.0035	47	c.-98 others(54): Show c.-98_-97insTACAGCGCCCCTCCTCCCCAGCCCCCCCCCGCCCCCCC CCCCCCCCT	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		19		chr13	TogoVar
GRTP1_chr13_113319163_113369130	113367844	G G	GGTGACCA others(40): Show GGTGACCAGTTCTGGTATAGTCTCCTCCAGGGCCCTGACCGTGGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	278	0.0036	47	c.-37 others(58): Show c.-3794_-3793insTGGCCCACGGTCAGGGCCCTGGAGGAGACTATAC CAGAACTGGTCAC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		3715		chr13	TogoVar
GRTP1_chr13_113319163_113369130	113367934	G G	GGGCCCAG others(40): Show GGGCCCAGTGACCAGTTCTGGTTAAGTCTCCTCCAGGGCCCTGACCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	286	0.0035	47	c.-38 others(58): Show c.-3884_-3883insATGGTCAGGGCCCTGGAGGAGACTTAACCAGAAC TGGTCACTGGGCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		3805		chr13	TogoVar
GSE1_chr16_85608322_85681200	85651083	T T	TCCCCCTC others(40): Show TCCCCCTCCGCCCCTCCTCCCCCTCCCCCTCCGCCCCTCCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0196 a0001c0009t0001g0196	1	286	0.0035	47	c.426 others(64): Show c.426+2343_426+2344insCCTCCTCCCCCTCCCCCTCCGCCCCTCC TCCCCCTCCCCCCTCCGCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSTM2_chr1_109663057_109680286	109670103	A A	AGGGGAGG others(40): Show AGGGGAGGTGGGGGGGGAGGGGGGAAGGGGGGGGGGTGGCCTCCTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp2 HG06807.hp1 others(2): Show HG02572.hp2 HG02886.hp2 HG06807.hp1 NA19043.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0029 a0001c0001t0001g0064 a0001c0001t0001g0074 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0002t0001g0091	5	198	0.0253	47	c.360 others(62): Show c.360+532_360+533insGGGGAGGTGGGGGGGGAGGGGGGAAGGGGG GGGGGTGGCCTCCTTTT	GSTM2	ENSG00000213366.13	transcript	ENST00000241337.9	protein_coding	5/7			chr1	TogoVar
GSTM2_chr1_109663057_109680286	109670103	A A	AGGGGAGG others(40): Show AGGGGAGGTGGGGGGGGGAGGGGGGAAGGGGGGGGGTGGCCTCCTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01433.hp1 HG01167.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0113 a0001c0001t0001g0077 a0001c0001t0001g0113	2	195	0.0103	47	c.360 others(62): Show c.360+532_360+533insGGGGAGGTGGGGGGGGGAGGGGGGAAGGGG GGGGGTGGCCTCCTTTT	GSTM2	ENSG00000213366.13	transcript	ENST00000241337.9	protein_coding	5/7			chr1	TogoVar
GSTM2_chr1_109663057_109680286	109670103	A A	AGGGGAGG others(40): Show AGGGGAGGTGGGGGGGGGAGGGGGGGAAGGGGGGGGTGGCCTCCTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	194	0.0052	47	c.360 others(62): Show c.360+532_360+533insGGGGAGGTGGGGGGGGGAGGGGGGGAAGGG GGGGGTGGCCTCCTTTT	GSTM2	ENSG00000213366.13	transcript	ENST00000241337.9	protein_coding	5/7			chr1	TogoVar
GSTM2_chr1_109663057_109680286	109670103	A A	AGGGGAGG others(40): Show AGGGGAGGTGGGGGGGGGGAGGGGGGAAGGGGGGGGTGGCCTCCTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02486.hp1 others(4): Show HG02109.hp1 HG02258.hp2 HG02486.hp1 HG02647.hp2 HG03195.hp2 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	7	200	0.0350	47	c.360 others(62): Show c.360+532_360+533insGGGGAGGTGGGGGGGGGGAGGGGGGAAGGG GGGGGTGGCCTCCTTTT	GSTM2	ENSG00000213366.13	transcript	ENST00000241337.9	protein_coding	5/7			chr1	TogoVar
GTF2H5_chr6_158163350_158204344	158169751	A A	AATATATT others(40): Show AATATATTGTATATTATATATTATATAATATATTGTATATTATATATT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	279	0.0036	47	c.-34 others(62): Show c.-34-699_-34-698insTATATAATATATTGTATATTATATATTATA TATTGTATATTATATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169751	A A	AATATATT others(40): Show AATATATTGTATATTATATATTGTATATTATATAATATATTGTATATT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01891.hp2 HG02922.hp1 HG01346.hp1 HG01891.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0111 a0001c0001t0123 a0001c0001t0005 a0001c0001t0111 a0001c0001t0123	a0001c0001t0005g0129 a0001c0001t0111g0034 a0001c0001t0123g0034 a0001c0001t0005g0129 a0001c0001t0111g0034 a0001c0001t0123g0034	3	281	0.0107	47	c.-34 others(62): Show c.-34-699_-34-698insTGTATATTATATAATATATTGTATATTATA TATTGTATATTATATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTPBP10_chr7_90341716_90396453	90372482	C C	CTTTTTTT others(40): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0026 a0005c0006t0026	a0005c0006t0026g0109 a0005c0006t0026g0109	1	204	0.0049	47	c.538 others(62): Show c.538+269_538+270insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	GTPBP10	ENSG00000105793.16	transcript	ENST00000222511.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
GUCA1B_chr6_42178284_42199956	42188886	T T	TTCTATCT others(40): Show TTCTATCTATCATCTATCTATCTATCTATCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19240.hp1 HG03130.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0140 a0001c0002t0001g0129 a0001c0002t0001g0140	2	351	0.0057	47	c.208 others(62): Show c.208-156_208-155insTAGATAGATAGATAGATAGATAGATAGATA GATAGATGATAGATAGA	GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding	1/3			chr6	TogoVar
GUCY1A1_chr4_155661848_155742059	155730840	A A	AGACTTAA others(40): Show AGACTTAAAAAATAATTAGATAAATTACCGTATTAAGTTCGGTTGGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0138 a0001c0001t0067g0138	1	328	0.0030	47	c.60 others(56): Show c.609_*610insGACTTAAAAAATAATTAGATAAATTACCGTATTAAG TTCGGTTGGAT	GUCY1A1	ENSG00000164116.17	transcript	ENST00000506455.6	protein_coding	10/10	610		chr4	TogoVar
H2AB2_chrX_155375709_155386299	155386172	A A	ACATTGTA others(40): Show ACATTGTACCCAATATGTAGTTTTCTTATCCCACACCCTCACACTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	229	0.0044	47	c.50 others(58): Show c.5038_*5039insCATTGTACCCAATATGTAGTTTTCTTATCCCACA CCCTCACACTCTT	H2AB2	ENSG00000277858.2	transcript	ENST00000354514.6	protein_coding		4874		chrX	TogoVar
H2BC17_chr6_27888425_27898891	27898527	G G	GAAAGCAC others(40): Show GAAAGCACAAAAATTATCTGGGCATGGTGGTGCATACCATGTGGTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	410	0.0024	47	c.46 others(58): Show c.4684_*4685insAAAGCACAAAAATTATCTGGGCATGGTGGTGCAT ACCATGTGGTCCA	H2BC17	ENSG00000274641.2	transcript	ENST00000616182.2	protein_coding		4637		chr6	TogoVar
HDAC4_chr2_239043168_239406020	239376339	A A	AAGGAAGG others(40): Show AAGGAAGGTGCTGTGTGCTCACAACCCTCCTGATGGTGCCCAGATGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01255.hp1 HG01257.hp1 others(5): Show HG00323.hp1 HG01255.hp1 HG01257.hp1 HG01433.hp1 HG02027.hp1 HG03471.hp1 NA18993.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 others(1): Show a0001c0001 a0001c0002 a0001c0012 a0001c0024	a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 a0001c0002t0024 a0001c0012t0050 a0001c0024t0069	a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0014g0139 others(5): Show a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0014g0139 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0024g0145 a0001c0012t0050g0153 a0001c0024t0069g0106	8	240	0.0333	47	c.-21 others(68): Show c.-219-23468_-219-23422dupCACATCTGGGCACCATCAGGAGGG TTGTGAGCACACAGCACCTTCCT	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	1/26			chr2	TogoVar
HDAC9_chr7_18490749_19007416	18954442	T T	TCTCATGT others(40): Show TCTCATGTATTTCCCACTCCACCTTACTACTGATAAGTAGTAATACTA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	154	0.0065	47	c.302 others(64): Show c.3022+224_3022+225insCCACTCCACCTTACTACTGATAAGTAGT AATACTACTCATGTATTTC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDLBP_chr2_241222291_241320672	241319892	C C	CCAGCAGT others(40): Show CCAGCAGTTTCTTATGTTTCTTACAGGCTGTGAGCCACTCACTATGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0138 a0002c0005t0003g0138	1	352	0.0028	47	c.-44 others(58): Show c.-4426_-4425insAGCATAGTGAGTGGCTCACAGCCTGTAAGAAACA TAAGAAACTGCTG	HDLBP	ENSG00000115677.18	transcript	ENST00000310931.10	protein_coding		4221		chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	153	0.0065	47	c.591 others(66): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar

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