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
GLRA1_chr5_151817513_151929851	151849376	G G	GTTTCCTT others(8): Show GTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02723.hp1 HG02886.hp2 others(1): Show HG00099.hp2 HG02723.hp1 HG02886.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0002g0185 a0001c0001t0002g0206 others(1): Show a0001c0001t0001g0026 a0001c0001t0002g0185 a0001c0001t0002g0206 a0001c0001t0002g0210	4	284	0.0141	15	c.912 others(32): Show c.912+1999_912+2013dupGGAAAGGAAAGGAAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151861763	G G	GTTGTTGA others(8): Show GTTGTTGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	284	0.0035	15	c.253 others(32): Show c.253-1756_253-1755insTCTCTCTCTCAACAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	3/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151884427	T T	TCAAAACA others(8): Show TCAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG01515.hp2 others(2): Show HG00735.hp1 HG01081.hp2 HG01515.hp2 HG02109.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0069 a0001c0001t0002g0190 a0001c0001t0002g0199 others(2): Show a0001c0001t0001g0069 a0001c0001t0002g0190 a0001c0001t0002g0199 a0001c0001t0002g0219 a0001c0001t0002g0278	5	284	0.0176	15	c.252 others(32): Show c.252+2279_252+2293dupTTTTGTTTTGTTTTG	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	3/8			chr5	TogoVar
GLRA2_chrX_14524536_14736812	14681906	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0094 a0001c0004t0007g0094	1	232	0.0043	15	c.931 others(32): Show c.931-8804_931-8803insTATATATATATATAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8			chrX	TogoVar
GLRA2_chrX_14524536_14736812	14681908	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp2 HG00639.hp1 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0206 a0001c0001t0003g0046 a0001c0001t0003g0206	2	232	0.0086	15	c.931 others(32): Show c.931-8802_931-8801insTATATATATATATAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8			chrX	TogoVar
GLRA2_chrX_14524536_14736812	14681910	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0075 a0001c0001t0049g0075	1	232	0.0043	15	c.931 others(32): Show c.931-8799_931-8798insAAATATATATATATA	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA2_chrX_14524536_14736812	14681910	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0199 a0001c0001t0013g0199	1	232	0.0043	15	c.931 others(32): Show c.931-8799_931-8798insATATATATATATATA	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLT1D1_chr12_128848478_128989968	128851575	C C	CTTATTTA others(8): Show CTTATTTATTTTAACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	320	0.0031	15	c.-20 others(26): Show c.-2007_-2006insTTATTTATTTTAACT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding		1902		chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128874097	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0064 a0001c0002t0004g0064	1	320	0.0031	15	c.69- others(30): Show c.69-1813_69-1812insTTCTTTCTTTCTTCT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128874124	C C	CTCTTCTT others(8): Show CTCTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	320	0.0031	15	c.69- others(30): Show c.69-1786_69-1785insCTTTCTTTCTTTCTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128879378	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	320	0.0031	15	c.217 others(32): Show c.217+3318_217+3319insCTTTCTTTCTTTCTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128879459	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01258.hp2 NA18968.hp1 HG01258.hp2 NA18968.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0016 a0001c0001 a0006c0016	a0001c0001t0003 a0006c0016t0002 a0001c0001t0003 a0006c0016t0002	a0001c0001t0003g0202 a0006c0016t0002g0207 a0001c0001t0003g0202 a0006c0016t0002g0207	2	320	0.0063	15	c.217 others(32): Show c.217+3399_217+3400insCTTTCTTTCTTTCTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128881559	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	320	0.0031	15	c.217 others(32): Show c.217+5497_217+5498insTATATATATATATAT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11			chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128881561	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	320	0.0031	15	c.217 others(32): Show c.217+5500_217+5501insAAAAATATATATATA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128926193	C C	CAATAATA others(8): Show CAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0265 a0001c0002t0002g0265	1	320	0.0031	15	c.470 others(30): Show c.470-136_470-122dupTAATAATAATAATAA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128942735	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03209.hp1 HG02970.hp2 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0007 a0003c0005t0004 a0001c0001t0007 a0003c0005t0004	a0001c0001t0007g0261 a0003c0005t0004g0043 a0001c0001t0007g0261 a0003c0005t0004g0043	2	320	0.0063	15	c.616 others(32): Show c.616-2588_616-2587insTTTTTTTTTTTTTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128956158	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG01167.hp1 others(14): Show HG00609.hp2 HG00639.hp1 HG01167.hp1 HG02083.hp2 HG02165.hp1 HG02280.hp1 HG02523.hp2 HG02572.hp1 HG06807.hp2 NA18943.hp2 NA18982.hp2 NA19004.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19063.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0004t0001 a0001c0004t0005 a0001c0006t0001	a0001c0001t0001g0019 a0001c0001t0001g0093 a0001c0001t0001g0168 others(14): Show a0001c0001t0001g0019 a0001c0001t0001g0093 a0001c0001t0001g0168 a0001c0001t0001g0189 a0001c0001t0001g0210 a0001c0001t0001g0232 a0001c0001t0001g0262 a0001c0001t0002g0060 a0001c0001t0002g0097 a0001c0001t0006g0001 a0001c0002t0001g0028 a0001c0002t0001g0131 a0001c0002t0002g0151 a0001c0002t0012g0095 a0001c0004t0001g0184 a0001c0004t0005g0252 a0001c0006t0001g0106	17	320	0.0531	15	c.781 others(32): Show c.781-1373_781-1372insAAAAAAAAAAAAAAA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT8D1_chr3_52689486_52710791	52692369	A A	ACTTTTTT others(8): Show ACTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	394	0.0025	15	c.24 others(26): Show c.2475_*2476insAAAAAAAAAAAAAAG	GLT8D1	ENSG00000016864.19	transcript	ENST00000266014.11	protein_coding		2116		chr3	TogoVar
GLT8D2_chr12_103983987_104055187	104013695	T T	TAAGTGTC others(8): Show TAAGTGTCTGACTGAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	416	0.0024	15	c.112 others(32): Show c.112+1303_112+1317dupTTCAGTCAGACACTT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	4/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104015393	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	416	0.0024	15	c.20- others(28): Show c.20-289_20-288insGTGTGTGTGTGTGTG	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	3/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104016709	G G	GAGAGAGA others(8): Show GAGAGAGAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0248 a0002c0002t0001g0248	1	416	0.0024	15	c.20- others(30): Show c.20-1605_20-1604insTTCTTTCTTCTCTCT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	3/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104016826	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0285 a0001c0003t0001g0285	1	416	0.0024	15	c.20- others(30): Show c.20-1722_20-1721insCTTTCTTTCTTTCTT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	3/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104016883	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19001.hp1 NA18994.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0360 a0001c0003t0001g0333 a0001c0001t0002g0360 a0001c0003t0001g0333	2	416	0.0048	15	c.20- others(30): Show c.20-1779_20-1778insCTTTCTTTCTTTCTT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	3/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104032466	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02132.hp1 HG02698.hp2 others(2): Show HG01496.hp1 HG02132.hp1 HG02698.hp2 HG02723.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031	5	416	0.0120	15	c.-16 others(36): Show c.-163-10990_-163-10976dupTTTTTTTTTTTTTTT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10			chr12	TogoVar
GLTPD2_chr17_4783964_4795589	4793610	G G	GAGAAAAG others(8): Show GAGAAAAGAAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03516.hp2 HG03041.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0001 a0001c0001t0001g0001 a0002c0002t0001g0001	2	460	0.0044	15	c.33 others(26): Show c.3314_*3315insAGAAAAGAAAAGAAA	GLTPD2	ENSG00000182327.8	transcript	ENST00000331264.8	protein_coding		3022		chr17	TogoVar
GLUD1_chr10_87045202_87099843	87052668	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	334	0.0030	15	c.155 others(32): Show c.1557+673_1557+674insTTTTTTTTTTTTTTT	GLUD1	ENSG00000148672.10	transcript	ENST00000277865.5	protein_coding	12/12			chr10	TogoVar
GLUD1_chr10_87045202_87099843	87056130	A A	AAAAACAA others(8): Show AAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0195 a0001c0008t0010g0195	1	334	0.0030	15	c.149 others(34): Show c.1494+1560_1494+1561insGTTTTGTTTTGTTTT	GLUD1	ENSG00000148672.10	transcript	ENST00000277865.5	protein_coding	11/12			chr10	TogoVar
GLYATL2_chr11_58829065_58849704	58840840	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01106.hp2 HG01255.hp2 others(18): Show HG00438.hp2 HG01106.hp2 HG01255.hp2 HG01261.hp2 HG02056.hp1 HG02074.hp2 HG02258.hp2 HG02622.hp2 HG02717.hp1 HG02895.hp2 HG03453.hp1 HG03831.hp1 NA18939.hp1 NA18941.hp2 NA18945.hp2 NA18959.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18984.hp1 NA18986.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0009 a0001c0001 a0002c0002 a0010c0009	a0001c0001t0001 a0002c0002t0002 a0010c0009t0001 a0001c0001t0001 a0002c0002t0002 a0010c0009t0001	a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0049 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0072 a0002c0002t0002g0039 a0010c0009t0001g0052	21	380	0.0553	15	c.-40 others(32): Show c.-40-1203_-40-1189dupATTTTATTTTATTTT	GLYATL2	ENSG00000156689.7	transcript	ENST00000287275.6	protein_coding	1/5			chr11	TogoVar
GLYR1_chr16_4798203_4852288	4808598	C C	CTAAAATA others(8): Show CTAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0084 a0001c0001t0021g0085 a0001c0001t0021g0084 a0001c0001t0021g0085	2	352	0.0057	15	c.158 others(34): Show c.1587+2557_1587+2571dupTTTTATTTTATTTTA	GLYR1	ENSG00000140632.17	transcript	ENST00000321919.14	protein_coding	15/15			chr16	TogoVar
GLYR1_chr16_4798203_4852288	4849949	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0063 a0001c0001t0012g0063	1	352	0.0028	15	c.-26 others(26): Show c.-2699_-2685dupTTTTTTTTTTTTTTT	GLYR1	ENSG00000140632.17	transcript	ENST00000321919.14	protein_coding		2662		chr16	TogoVar
GM2A_chr5_151248185_151275440	151266447	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02027.hp2 HG02055.hp2 others(6): Show HG00423.hp1 HG02027.hp2 HG02055.hp2 HG02145.hp1 HG02738.hp1 HG03669.hp1 HG03831.hp2 HG03927.hp1 HG04228.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0005c0005 a0004c0004 a0005c0005	a0004c0004t0020 a0005c0005t0008 a0005c0005t0020 others(2): Show a0004c0004t0020 a0005c0005t0008 a0005c0005t0020 a0005c0005t0042 a0005c0005t0048	a0004c0004t0020g0132 a0004c0004t0020g0138 a0005c0005t0008g0016 others(5): Show a0004c0004t0020g0132 a0004c0004t0020g0138 a0005c0005t0008g0016 a0005c0005t0008g0055 a0005c0005t0008g0062 a0005c0005t0020g0016 a0005c0005t0042g0016 a0005c0005t0048g0107	9	412	0.0218	15	c.244 others(30): Show c.244-283_244-269dupAAAAAAAAAAAAAAA	GM2A	ENSG00000196743.9	transcript	ENST00000357164.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
GMCL1_chr2_69824660_69886384	69838336	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	390	0.0026	15	c.384 others(30): Show c.384+680_384+694dupAAAAAAAAAAAAAAA	GMCL1	ENSG00000087338.5	transcript	ENST00000282570.4	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GMCL1_chr2_69824660_69886384	69859742	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01358.hp1 HG03516.hp2 others(2): Show HG01243.hp2 HG01358.hp1 HG03516.hp2 HG03704.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0002t0004 a0001c0001t0003 a0001c0001t0007 a0001c0002t0004	a0001c0001t0003g0092 a0001c0001t0007g0023 a0001c0002t0004g0309 others(1): Show a0001c0001t0003g0092 a0001c0001t0007g0023 a0001c0002t0004g0309 a0001c0002t0004g0311	5	390	0.0128	15	c.107 others(34): Show c.1073-1534_1073-1520dupAAAAAAAAAAAAAAA	GMCL1	ENSG00000087338.5	transcript	ENST00000282570.4	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GMCL2_chr5_178179505_178192371	178187475	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01261.hp2 HG01361.hp1 others(9): Show HG01192.hp1 HG01261.hp2 HG01361.hp1 HG01978.hp1 HG02055.hp2 HG02148.hp1 HG02165.hp1 HG03471.hp1 HG03579.hp2 HG04204.hp2 NA18970.hp2 NA18991.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0004c0011 a0002c0002 a0004c0004 a0004c0011	a0002c0002t0002 a0002c0002t0008 a0004c0004t0005 others(1): Show a0002c0002t0002 a0002c0002t0008 a0004c0004t0005 a0004c0011t0005	a0002c0002t0002g0000 a0002c0002t0008g0000 a0004c0004t0005g0000 others(1): Show a0002c0002t0002g0000 a0002c0002t0008g0000 a0004c0004t0005g0000 a0004c0011t0005g0000	12	452	0.0266	15	c.-17 others(24): Show c.-177_-176insAAAAAAAAAAAAAAA	GMCL2	ENSG00000244234.3	transcript	ENST00000463439.3	protein_coding		105		chr5	TogoVar
GMDS_chr6_1618806_2250605	1650049	C C	CACGGCCT others(8): Show CACGGCCTCAGTTTCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	166	0.0060	15	c.988 others(34): Show c.988-25524_988-25510dupAGAAACTGAGGCCGT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1722260	A A	ATTATTAT others(8): Show ATTATTATTATTATTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00558.hp1 others(21): Show HG00323.hp2 HG00544.hp1 HG00558.hp1 HG01106.hp2 HG02027.hp1 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02717.hp1 HG02886.hp2 HG02896.hp2 HG02970.hp2 HG03453.hp1 HG03834.hp2 NA18522.hp2 NA18970.hp2 NA18979.hp2 NA18983.hp2 NA19003.hp2 NA19009.hp1 NA19063.hp1 NA19063.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0073 others(21): Show a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0125 a0001c0001t0001g0163 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0096 a0001c0001t0004g0104 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0026 a0001c0002t0001g0048 a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0101 a0001c0002t0001g0118 a0001c0002t0001g0131 a0001c0002t0001g0138 a0001c0002t0001g0147 a0001c0002t0001g0154 a0001c0002t0002g0077 a0001c0002t0002g0110	24	166	0.1446	15	c.987 others(32): Show c.987+4155_987+4156insAAATAATAATAATAA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1843109	C C	CAAATAAA others(8): Show CAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02280.hp1 HG02559.hp2 others(9): Show HG02135.hp1 HG02280.hp1 HG02559.hp2 HG02717.hp1 HG02886.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03710.hp1 NA18979.hp2 NA19003.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0124 others(9): Show a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0124 a0001c0001t0002g0043 a0001c0001t0004g0104 a0001c0002t0001g0005 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0002g0008 a0001c0002t0002g0044	12	166	0.0723	15	c.771 others(34): Show c.771+86979_771+86993dupTATTTTATTTTATTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2013840	A A	AAATATTT others(8): Show AAATATTTAAAGTAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(157): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18961.hp1 NA18961.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(157): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0002g0004 a0001c0001t0002g0022 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0060 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0003g0115 a0001c0001t0004g0104 a0001c0002t0001g0005 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0037 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0086 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0156 a0001c0002t0001g0159 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0044 a0001c0002t0002g0050 a0001c0002t0002g0059 a0001c0002t0002g0077 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0144 a0001c0002t0005g0019 a0001c0002t0006g0166 a0001c0004t0001g0165 a0002c0003t0001g0001	160	166	0.9639	15	c.346 others(34): Show c.346-52875_346-52874insATTACTTTAAATATT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2059707	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp1 HG02886.hp1 others(5): Show HG01243.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG03225.hp1 HG03471.hp2 HG03516.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0052 a0001c0001t0001g0076 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0052 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0098 a0001c0001t0001g0149 a0001c0002t0001g0005 a0001c0002t0001g0162	8	166	0.0482	15	c.345 others(34): Show c.345+56049_345+56063dupTTTTTTTTTTTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2125275	T T	TAAAACAA others(8): Show TAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG02723.hp2 others(2): Show HG02109.hp2 HG02615.hp2 HG02723.hp2 HG03471.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0058 a0001c0001t0001g0098 a0001c0002t0001g0046 others(2): Show a0001c0001t0001g0058 a0001c0001t0001g0098 a0001c0002t0001g0046 a0001c0002t0001g0103 a0001c0002t0002g0059	5	166	0.0301	15	c.103 others(30): Show c.103-559_103-545dupGTTTTGTTTTGTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	1/10			chr6	TogoVar
GMEB1_chr1_28663784_28724353	28687381	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0277 a0001c0001t0022g0277	1	290	0.0035	15	c.129 others(32): Show c.129-2722_129-2721insAAAAAAAAAAAAAAA	GMEB1	ENSG00000162419.13	transcript	ENST00000373816.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
GMEB1_chr1_28663784_28724353	28687385	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02165.hp1 NA18965.hp1 HG02040.hp1 HG02165.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0108 a0001c0001t0003g0132 a0001c0001t0003g0016 a0001c0001t0003g0108 a0001c0001t0003g0132	3	290	0.0103	15	c.129 others(32): Show c.129-2718_129-2717insAAAAAAAAAAAAAAA	GMEB1	ENSG00000162419.13	transcript	ENST00000373816.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
GMEB1_chr1_28663784_28724353	28687387	C C	CACAAAAA others(8): Show CACAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	290	0.0035	15	c.129 others(32): Show c.129-2716_129-2715insCAAAAAAAAAAAAAA	GMEB1	ENSG00000162419.13	transcript	ENST00000373816.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
GMEB1_chr1_28663784_28724353	28695938	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	290	0.0035	15	c.441 others(30): Show c.441-967_441-953dupAAAAAAAAAAAAAAA	GMEB1	ENSG00000162419.13	transcript	ENST00000373816.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
GMEB1_chr1_28663784_28724353	28720201	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG01891.hp2 HG02055.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0038 a0001c0005t0040 a0001c0005t0038 a0001c0005t0040	a0001c0005t0038g0086 a0001c0005t0040g0199 a0001c0005t0038g0086 a0001c0005t0040g0199	2	290	0.0069	15	c.54 others(26): Show c.5428_*5429insAAAAAAAAAAAAAAA	GMEB1	ENSG00000162419.13	transcript	ENST00000373816.6	protein_coding		849		chr1	TogoVar
GMFG_chr19_39323359_39341043	39326699	A A	AGGAGGGG others(8): Show AGGAGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	374	0.0027	15	c.17 others(26): Show c.1777_*1778insCCCCCCCCCCCCTCC	GMFG	ENSG00000130755.13	transcript	ENST00000597595.6	protein_coding		1659		chr19	TogoVar
GMFG_chr19_39323359_39341043	39326712	G G	GGGGGAGG others(8): Show GGGGGAGGGGGGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	15	c.17 others(26): Show c.1764_*1765insTCCTCCCCCCTCCCC	GMFG	ENSG00000130755.13	transcript	ENST00000597595.6	protein_coding		1646		chr19	TogoVar
GMPR_chr6_16233587_16300549	16296660	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	344	0.0029	15	c.14 others(26): Show c.1474_*1475insTTTTTTTTTTTTTTT	GMPR	ENSG00000137198.10	transcript	ENST00000259727.5	protein_coding		1112		chr6	TogoVar
GMPS_chr3_155865650_155949020	155873638	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01109.hp1 others(20): Show HG00738.hp1 HG00741.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG01346.hp2 HG02027.hp1 HG02071.hp1 HG02135.hp1 HG02273.hp2 HG03654.hp1 HG03942.hp1 HG04199.hp2 NA18949.hp1 NA18983.hp1 NA18994.hp1 NA19001.hp2 NA19063.hp1 NA19067.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0025 a0001c0001t0029 a0001c0001t0051	a0001c0001t0001g0003 a0001c0001t0001g0089 a0001c0001t0001g0090 others(18): Show a0001c0001t0001g0003 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0009g0099 a0001c0001t0010g0095 a0001c0001t0025g0097 a0001c0001t0029g0105 a0001c0001t0029g0106 a0001c0001t0051g0104	23	380	0.0605	15	c.27+ others(30): Show c.27+2755_27+2756insTTTTTTTTTTTTTTT	GMPS	ENSG00000163655.16	transcript	ENST00000496455.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
GNA11_chr19_3089362_3128999	3110786	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0113 a0001c0001t0056g0113	1	425	0.0024	15	c.321 others(30): Show c.321+469_321+483dupTTTTGTTTTGTTTTG	GNA11	ENSG00000088256.9	transcript	ENST00000078429.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar

Search by Variant

Search

Search Results