JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GLT1D1_chr12_128848478_128989968	128971650	TCCCCCCT others(13): Show TCCCCCCTCCCTCCTCCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03471.hp2 NA20129.hp2 HG02559.hp2 HG03471.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0011 a0001c0002t0001g0122 a0001c0002t0005g0020 a0001c0001t0001g0011 a0001c0002t0001g0122 a0001c0002t0005g0020	3	320	0.0094	-20	c.880 others(39): Show c.880-11273_880-11254delCTCCCTCCTCCCTTCCCCCC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128971707	TCCCCCCT others(13): Show TCCCCCCTCCCTCCTCCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02109.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0017 a0001c0001t0019 a0001c0002t0017	a0001c0001t0019g0012 a0001c0002t0017g0063 a0001c0001t0019g0012 a0001c0002t0017g0063	2	320	0.0063	-20	c.880 others(39): Show c.880-11216_880-11197delCTCCCTCCTCCCTTCCCCCC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128971726	TCCCCCCT others(13): Show TCCCCCCTCCATCCTCCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(59): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00558.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02071.hp2 HG02135.hp1 HG02148.hp2 HG02451.hp1 HG02572.hp2 HG02683.hp2 HG03130.hp1 HG03239.hp2 HG03491.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18951.hp2 NA18960.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA19000.hp2 NA19004.hp2 NA19043.hp2 NA19060.hp1 NA19064.hp2 NA19068.hp2 NA19070.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003 a0003c0005 a0006c0016 a0008c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0004t0001 a0001c0006t0006 a0002c0003t0005 a0003c0005t0004 a0006c0016t0002 a0008c0018t0002	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 others(59): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0192 a0001c0001t0001g0228 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0281 a0001c0001t0001g0290 a0001c0001t0001g0302 a0001c0001t0002g0009 a0001c0001t0002g0037 a0001c0001t0002g0081 a0001c0001t0002g0123 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0002g0208 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0002g0235 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0003g0266 a0001c0001t0003g0294 a0001c0001t0010g0303 a0001c0001t0010g0307 a0001c0001t0015g0239 a0001c0002t0001g0029 a0001c0002t0001g0108 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0140 a0001c0002t0001g0233 a0001c0002t0001g0305 a0001c0002t0002g0068 a0001c0002t0002g0078 a0001c0002t0002g0118 a0001c0002t0002g0237 a0001c0002t0003g0271 a0001c0002t0006g0058 a0001c0004t0001g0200 a0001c0006t0006g0048 a0002c0003t0005g0156 a0003c0005t0004g0145 a0006c0016t0002g0207 a0008c0018t0002g0187	62	320	0.1938	-20	c.880 others(39): Show c.880-11197_880-11178delCTCCATCCTCCCTTCCCCCC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT8D2_chr12_103983987_104055187	103985166	TACACACA others(13): Show TACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG03017.hp2 HG03669.hp2 others(4): Show HG02735.hp2 HG03017.hp2 HG03669.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0036 a0001c0001t0001g0065 a0001c0001t0002g0393 others(4): Show a0001c0001t0001g0036 a0001c0001t0001g0065 a0001c0001t0002g0393 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0315 a0001c0001t0003g0332	7	416	0.0168	-20	c.42 others(31): Show c.4222_*4241delGTGTGTGTGTGTGTGTGTGT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding		3820		chr12	TogoVar
GLT8D2_chr12_103983987_104055187	103990078	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG01074.hp2 others(27): Show HG00408.hp1 HG00673.hp2 HG01074.hp2 HG01515.hp1 HG02015.hp1 HG02056.hp1 HG02523.hp2 HG02615.hp2 HG02647.hp1 HG03139.hp2 HG03471.hp2 HG03490.hp1 HG03579.hp2 NA18940.hp1 NA18947.hp2 NA18952.hp1 NA18960.hp1 NA18973.hp2 NA18974.hp2 NA18984.hp1 NA18988.hp1 NA18995.hp1 NA19005.hp2 NA19030.hp1 NA19054.hp2 NA19067.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0063 a0001c0001t0001g0066 others(27): Show a0001c0001t0001g0005 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0128 a0001c0001t0001g0148 a0001c0001t0001g0203 a0001c0001t0002g0188 a0001c0001t0002g0336 a0001c0001t0002g0349 a0001c0001t0002g0368 a0001c0001t0002g0374 a0001c0001t0002g0376 a0001c0001t0002g0379 a0001c0001t0002g0381 a0001c0001t0002g0382 a0001c0001t0002g0383 a0001c0001t0002g0384 a0001c0001t0002g0386 a0001c0001t0002g0388 a0001c0001t0002g0398 a0001c0003t0001g0294 a0001c0003t0001g0297 a0001c0003t0001g0298 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018	30	416	0.0721	-20	c.881 others(35): Show c.881-521_881-502delATATATATATATATATATAT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	10/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104016689	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02300.hp2 HG02970.hp2 others(1): Show HG00639.hp2 HG02300.hp2 HG02970.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0058 a0001c0001t0001g0059 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0335	4	416	0.0096	-20	c.20- others(35): Show c.20-1604_20-1585delCTCTCCCTTTCTTTCTTTCT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	3/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104016709	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02145.hp1 HG01261.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0150 a0001c0001t0001g0158	2	416	0.0048	-20	c.20- others(35): Show c.20-1624_20-1605delTTCTTTCTTTCTTTCTTTCT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	3/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104016762	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	416	0.0024	-20	c.20- others(35): Show c.20-1677_20-1658delCTTCCTTCTTTCTTTCTTTC	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	3/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104016766	AGAAAGAA others(13): Show AGAAAGAAAGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0192	1	416	0.0024	-20	c.20- others(35): Show c.20-1681_20-1662delCTTCCTTCCTTCTTTCTTTC	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	3/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104045892	TAAGAAAG others(13): Show TAAGAAAGAAAGAAAGAAAGA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	416	0.0024	-20	c.-16 others(39): Show c.-164+3983_-164+4002delTCTTTCTTTCTTTCTTTCTT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10			chr12	TogoVar
GLYATL1_chr11_58934488_58961406	58956964	AACTTGGC others(13): Show AACTTGGCCTCTTTTGGTTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02965.hp1 HG02976.hp2 others(1): Show HG01891.hp2 HG02965.hp1 HG02976.hp2 HG03195.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0006 a0003c0005t0006 a0001c0001t0006 a0003c0005t0006	a0001c0001t0006g0033 a0001c0001t0006g0066 a0003c0005t0006g0065 a0001c0001t0006g0033 a0001c0001t0006g0066 a0003c0005t0006g0065	4	424	0.0094	-20	c.93 others(29): Show c.938_*957delACTTGGCCTCTTTTGGTTCC	GLYATL1	ENSG00000166840.14	transcript	ENST00000532726.6	protein_coding		559		chr11	TogoVar
GLYATL2_chr11_58829065_58849704	58840840	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0089 a0002c0002t0002g0089	1	380	0.0026	-20	c.-40 others(37): Show c.-40-1208_-40-1189delATTTTATTTTATTTTATTTT	GLYATL2	ENSG00000156689.7	transcript	ENST00000287275.6	protein_coding	1/5			chr11	TogoVar
GLYATL3_chr6_49494923_49533078	49509948	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02976.hp1 NA19004.hp1 HG02970.hp1 HG02976.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0011 a0001c0002t0002 a0001c0002t0011	a0001c0002t0002g0119 a0001c0002t0002g0291 a0001c0002t0011g0183 a0001c0002t0002g0119 a0001c0002t0002g0291 a0001c0002t0011g0183	3	380	0.0079	-20	c.-28 others(37): Show c.-28-1979_-28-1960delTTCTTTCTTTCTTTCTTTCT	GLYATL3	ENSG00000203972.10	transcript	ENST00000371197.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
GLYAT_chr11_58703757_58736943	58728877	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0171	1	364	0.0028	-20	c.-16 others(37): Show c.-16+2938_-16+2957delCTTCCTTCTTTCTTTCTTTC	GLYAT	ENSG00000149124.11	transcript	ENST00000344743.8	protein_coding	1/5			chr11	TogoVar
GLYAT_chr11_58703757_58736943	58728881	AGAAAGAA others(13): Show AGAAAGAAAGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG06807.hp1 NA18939.hp1 others(3): Show HG02896.hp1 HG06807.hp1 NA18939.hp1 NA19043.hp2 NA19060.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0006 a0001c0007t0001 a0001c0001t0001 a0001c0001t0006 a0001c0007t0001	a0001c0001t0001g0003 a0001c0001t0006g0046 a0001c0007t0001g0262 a0001c0001t0001g0003 a0001c0001t0006g0046 a0001c0007t0001g0262	6	364	0.0165	-20	c.-16 others(37): Show c.-16+2934_-16+2953delCTTCCTTCCTTCTTTCTTTC	GLYAT	ENSG00000149124.11	transcript	ENST00000344743.8	protein_coding	1/5			chr11	TogoVar
GLYAT_chr11_58703757_58736943	58728885	AGAAAGAA others(13): Show AGAAAGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02965.hp2 NA18960.hp1 others(6): Show HG02155.hp2 HG02965.hp2 NA18960.hp1 NA18962.hp2 NA18971.hp1 NA18973.hp1 NA18999.hp2 NA19080.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0004 a0001c0001 a0001c0005 a0004c0004	a0001c0001t0001 a0001c0005t0002 a0004c0004t0001 a0001c0001t0001 a0001c0005t0002 a0004c0004t0001	a0001c0001t0001g0019 a0001c0001t0001g0052 a0001c0001t0001g0058 others(4): Show a0001c0001t0001g0019 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0268 a0001c0005t0002g0102 a0004c0004t0001g0020 a0004c0004t0001g0053	9	364	0.0247	-20	c.-16 others(37): Show c.-16+2930_-16+2949delCTTCCTTCCTTCCTTCTTTC	GLYAT	ENSG00000149124.11	transcript	ENST00000344743.8	protein_coding	1/5			chr11	TogoVar
GMDS_chr6_1618806_2250605	1652516	ATATTTAT others(13): Show ATATTTATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	166	0.0060	-20	c.988 others(39): Show c.988-27996_988-27977delATATATATTATATATAAATA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1934765	CTCCTCAT others(13): Show CTCCTCATTTTTACTCCATGT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	166	0.0060	-20	c.644 others(37): Show c.644-4555_644-4536delACATGGAGTAAAAATGAGGA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	6/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2162659	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	166	0.0060	-20	c.103 others(39): Show c.103-37948_103-37929delGTGTGTGTGTGTGTGTGTGT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	1/10			chr6	TogoVar
GMEB1_chr1_28663784_28724353	28697162	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01109.hp2 HG01069.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0171 a0001c0001t0004g0152 a0001c0001t0001g0171 a0001c0001t0004g0152	2	290	0.0069	-20	c.598 others(34): Show c.598+97_598+116delATATATATATATATATATAT	GMEB1	ENSG00000162419.13	transcript	ENST00000373816.6	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
GMNC_chr3_190847737_190867694	190861455	CATCTATC others(13): Show CATCTATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	488	0.0021	-20	c.4-6 others(31): Show c.4-617_4-598delAGATAGATAGATAGATAGAT	GMNC	ENSG00000205835.9	transcript	ENST00000442080.6	protein_coding	1/4			chr3	TogoVar
GMNC_chr3_190847737_190867694	190865822	GCATCAAG others(13): Show GCATCAAGTAAACAATAATGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0218 a0002c0002t0001g0218	1	488	0.0021	-20	c.-32 others(31): Show c.-3227_-3208delACATTATTGTTTACTTGATG	GMNC	ENSG00000205835.9	transcript	ENST00000442080.6	protein_coding		3129		chr3	TogoVar
GMPPB_chr3_49714916_49728951	49724972	ACAGGGCT others(13): Show ACAGGGCTCTCTGGCATGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	326	0.0031	-20	c.-12 others(31): Show c.-1266_-1247delCCCCATGCCAGAGAGCCCTG	GMPPB	ENSG00000173540.14	transcript	ENST00000308388.7	protein_coding		1022		chr3	TogoVar
GMPR_chr6_16233587_16300549	16289848	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0161 a0002c0002t0002g0161	1	344	0.0029	-20	c.698 others(35): Show c.698-596_698-577delTTTTTTTTTTTTTTTTTTTT	GMPR	ENSG00000137198.10	transcript	ENST00000259727.5	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
GNA11_chr19_3089362_3128999	3095473	AGCCCTGT others(13): Show AGCCCTGTACACTCCATGCAG	A A	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18969.hp1 NA19074.hp2 others(2): Show NA18967.hp2 NA18969.hp1 NA19074.hp2 NA19080.hp1 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0033 a0001c0002t0010 a0001c0002t0033	a0001c0002t0010g0017 a0001c0002t0010g0276 a0001c0002t0033g0302 a0001c0002t0010g0017 a0001c0002t0010g0276 a0001c0002t0033g0302	5	425	0.0118	-20	c.136 others(35): Show c.136+696_136+715delACTCCATGCAGGCCCTGTAC	GNA11	ENSG00000088256.9	transcript	ENST00000078429.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA11_chr19_3089362_3128999	3095483	ACTCCATG others(13): Show ACTCCATGCAGGCCCTGTACC	A A	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	425	0.0024	-20	c.136 others(35): Show c.136+716_136+735delCCTCCATGCAGGCCCTGTAC	GNA11	ENSG00000088256.9	transcript	ENST00000078429.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA12_chr7_2723105_2849308	2759140	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp2 HG03098.hp1 others(1): Show HG02280.hp1 HG02486.hp2 HG03098.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0139 a0001c0001t0009g0267 a0001c0001t0009g0268 others(1): Show a0001c0001t0009g0139 a0001c0001t0009g0267 a0001c0001t0009g0268 a0001c0001t0009g0274	4	322	0.0124	-20	c.526 others(39): Show c.526-25659_526-25640delATTTATTTATTTATTTATTT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNA12_chr7_2723105_2849308	2780048	GTACATAT others(13): Show GTACATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0027 a0002c0006t0027	a0002c0006t0027g0149 a0002c0006t0027g0149	1	322	0.0031	-20	c.525 others(39): Show c.525+14860_525+14879delTATATATATATATATATGTA	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNA12_chr7_2723105_2849308	2783649	CATTTATT others(13): Show CATTTATTTATTTATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00735.hp1 others(41): Show HG00280.hp1 HG00639.hp1 HG00735.hp1 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG02071.hp2 HG02148.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02647.hp1 HG02698.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03540.hp2 HG03704.hp1 HG03831.hp1 HG06807.hp2 NA19043.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0028 a0001c0001t0032 a0001c0001t0035 a0002c0006t0027	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0135 others(41): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0307 a0001c0001t0005g0308 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0005g0319 a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0148 a0001c0001t0007g0184 a0001c0001t0007g0269 a0001c0001t0007g0270 a0001c0001t0008g0049 a0001c0001t0012g0298 a0001c0001t0015g0140 a0001c0001t0015g0141 a0001c0001t0017g0271 a0001c0001t0017g0272 a0001c0001t0019g0275 a0001c0001t0019g0276 a0001c0001t0028g0284 a0001c0001t0032g0254 a0001c0001t0035g0297 a0002c0006t0027g0149	44	322	0.1367	-20	c.525 others(39): Show c.525+11259_525+11278delAAATAAATAAATAAATAAAT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNA12_chr7_2723105_2849308	2812636	AACATCAC others(13): Show AACATCACATCACATCACATC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00609.hp1 others(73): Show HG00140.hp2 HG00280.hp1 HG00609.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01978.hp2 HG02071.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03540.hp2 HG03669.hp1 HG03834.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18943.hp2 NA18952.hp2 NA18953.hp1 NA18956.hp1 NA18959.hp1 NA18962.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18979.hp2 NA18983.hp2 NA18992.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0001t0019 a0001c0001t0030 a0001c0003t0001 a0003c0005t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(73): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0173 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0003g0013 a0001c0001t0007g0192 a0001c0001t0007g0193 a0001c0001t0007g0194 a0001c0001t0013g0277 a0001c0001t0013g0278 a0001c0001t0013g0279 a0001c0001t0019g0275 a0001c0001t0019g0276 a0001c0001t0030g0213 a0001c0003t0001g0227 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0001g0238 a0003c0005t0001g0257	76	322	0.2360	-20	c.310 others(39): Show c.310-17513_310-17494delGATGTGATGTGATGTGATGT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	1/3			chr7	TogoVar
GNA12_chr7_2723105_2849308	2834959	CGCGATGC others(13): Show CGCGATGCATGACTATACATT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03540.hp2 HG01192.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0275 a0001c0001t0019g0276 a0001c0001t0019g0275 a0001c0001t0019g0276	2	322	0.0062	-20	c.309 others(37): Show c.309+8874_309+8893delAATGTATAGTCATGCATCGC	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	1/3			chr7	TogoVar
GNA13_chr17_65004289_65061740	65018092	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02258.hp2 HG03041.hp1 others(1): Show HG00639.hp2 HG02258.hp2 HG03041.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016	a0001c0001t0001g0072 a0001c0001t0006g0161 a0001c0001t0009g0155 others(1): Show a0001c0001t0001g0072 a0001c0001t0006g0161 a0001c0001t0009g0155 a0001c0001t0016g0124	4	180	0.0222	-20	c.561 others(35): Show c.561+141_561+160delTTTTTTTTTTTTTTTTTTTT	GNA13	ENSG00000120063.10	transcript	ENST00000439174.7	protein_coding	3/3			chr17	TogoVar
GNA14_chr9_77418079_77653322	77494771	TTTTTGTT others(13): Show TTTTTGTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	240	0.0042	-20	c.309 others(39): Show c.309+34278_309+34297delCAAAACAAAACAAAACAAAA	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GNA14_chr9_77418079_77653322	77615702	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0125 a0001c0004t0001g0125	1	240	0.0042	-20	c.124 others(39): Show c.124+31948_124+31967delGTGTGTGTGTGTGTGTGTGT	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6			chr9	TogoVar
GNA14_chr9_77418079_77653322	77641095	GGGGGGGA others(13): Show GGGGGGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01261.hp1 HG01943.hp2 others(4): Show HG01256.hp1 HG01261.hp1 HG01943.hp2 HG01978.hp2 HG02004.hp1 HG02148.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0002t0002	a0001c0001t0003g0123 a0001c0001t0005g0199 a0001c0001t0005g0231 others(4): Show a0001c0001t0003g0123 a0001c0001t0005g0199 a0001c0001t0005g0231 a0001c0001t0008g0190 a0001c0002t0002g0198 a0001c0002t0002g0200 a0001c0002t0002g0230	7	240	0.0292	-20	c.124 others(37): Show c.124+6555_124+6574delTTCCTTCCTTCCTTCCCCCC	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6			chr9	TogoVar
GNA14_chr9_77418079_77653322	77641099	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp1 HG00735.hp1 others(5): Show HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01255.hp1 NA18968.hp1 NA18980.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 others(5): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0003g0040 a0001c0001t0004g0043 a0001c0002t0001g0044 a0001c0003t0001g0039	8	240	0.0333	-20	c.124 others(37): Show c.124+6551_124+6570delTTCCTTCCTTCCTTCCTTCC	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6			chr9	TogoVar
GNA15_chr19_3131033_3168749	3135835	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	450	0.0022	-20	c.-61 others(29): Show c.-615_-596delAAAAAAAAATATATATATAT	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding		197		chr19	TogoVar
GNA15_chr19_3131033_3168749	3135837	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01123.hp1 HG01256.hp1 others(20): Show HG00558.hp1 HG01123.hp1 HG01256.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02132.hp2 HG02273.hp2 HG03017.hp2 HG04184.hp1 NA18948.hp2 NA18970.hp2 NA19004.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 a0001c0002t0021 a0001c0003t0001	a0001c0001t0001g0036 a0001c0002t0001g0001 a0001c0002t0001g0002 others(17): Show a0001c0001t0001g0036 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0262 a0001c0002t0013g0034 a0001c0002t0021g0037 a0001c0003t0001g0020	23	450	0.0511	-20	c.-61 others(29): Show c.-613_-594delAAAAAAATATATATATATAT	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding		195		chr19	TogoVar
GNAI1_chr7_80129831_80231181	80187189	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTCTT	G G	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18978.hp1 NA18960.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0053 a0001c0001t0001 a0001c0001t0053	a0001c0001t0001g0043 a0001c0001t0053g0118 a0001c0001t0001g0043 a0001c0001t0053g0118	2	312	0.0064	-20	c.119 others(37): Show c.119-1744_119-1725delCTTTGTGTGTGTGTGTGTGT	GNAI1	ENSG00000127955.17	transcript	ENST00000649796.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
GNAL_chr18_11684264_11890685	11690000	CGGCGGGC others(13): Show CGGCGGGCACCGGGGAGCGGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02976.hp2 others(3): Show HG02145.hp2 HG02572.hp1 HG02976.hp2 HG03540.hp2 NA18522.hp2 NA19240.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0034 a0004c0004t0035 a0004c0004t0043 others(3): Show a0004c0004t0034 a0004c0004t0035 a0004c0004t0043 a0004c0004t0053 a0004c0004t0064 a0004c0004t0065	a0004c0004t0034g0003 a0004c0004t0035g0004 a0004c0004t0043g0007 others(3): Show a0004c0004t0034g0003 a0004c0004t0035g0004 a0004c0004t0043g0007 a0004c0004t0053g0002 a0004c0004t0064g0005 a0004c0004t0065g0006	6	248	0.0242	-20	c.376 others(34): Show c.376+81_376+100delTGGCGGGCACCGGGGAGCGG	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11684264_11890685	11721889	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 HG02723.hp2 others(6): Show HG02257.hp2 HG02622.hp1 HG02723.hp2 HG02896.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03516.hp2 HG03540.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0040 a0001c0001t0045 a0001c0001t0052 others(6): Show a0001c0001t0040 a0001c0001t0045 a0001c0001t0052 a0001c0001t0057 a0001c0001t0060 a0001c0001t0083 a0002c0002t0062 a0003c0003t0054 a0003c0003t0067	a0001c0001t0040g0065 a0001c0001t0045g0063 a0001c0001t0052g0246 others(6): Show a0001c0001t0040g0065 a0001c0001t0045g0063 a0001c0001t0052g0246 a0001c0001t0057g0064 a0001c0001t0060g0247 a0001c0001t0083g0142 a0002c0002t0062g0085 a0003c0003t0054g0055 a0003c0003t0067g0056	9	248	0.0363	-20	c.377 others(39): Show c.377-30937_377-30918delATAAATAAATAAATAAATAA	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAO1_chr16_56186489_56362444	56277776	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01169.hp1 others(9): Show HG00140.hp2 HG01074.hp1 HG01169.hp1 HG01361.hp1 HG01496.hp1 HG01891.hp1 HG01978.hp1 HG02683.hp1 HG02683.hp2 HG03834.hp1 NA18906.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006	a0001c0001t0001g0062 a0001c0001t0001g0231 a0001c0001t0002g0254 others(9): Show a0001c0001t0001g0062 a0001c0001t0001g0231 a0001c0001t0002g0254 a0001c0001t0004g0207 a0001c0001t0004g0296 a0001c0002t0001g0065 a0001c0002t0001g0104 a0001c0002t0001g0232 a0001c0002t0002g0061 a0001c0002t0003g0136 a0001c0002t0004g0143 a0001c0002t0006g0234	12	298	0.0403	-20	c.303 others(37): Show c.303+1751_303+1770delACACACACACACACACACAC	GNAO1	ENSG00000087258.16	transcript	ENST00000262493.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
GNAO1_chr16_56186489_56362444	56300039	GCGCGCGC others(13): Show GCGCGCGCGCGCGCACGCACA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0074 a0001c0002t0004g0074	1	298	0.0034	-20	c.303 others(39): Show c.303+23968_303+23987delCGCGCGCGCGCGCACGCACA	GNAO1	ENSG00000087258.16	transcript	ENST00000262493.12	protein_coding	3/8			chr16	TogoVar
GNAQ_chr9_77711097_78036811	78008569	TATTTCAT others(13): Show TATTTCATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02055.hp1 HG02717.hp2 others(8): Show HG00642.hp2 HG02055.hp1 HG02717.hp2 HG02723.hp2 HG02895.hp1 HG02896.hp2 HG03041.hp1 HG03492.hp1 HG06807.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 others(4): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0032 a0001c0001t0072	a0001c0001t0004g0224 a0001c0001t0007g0226 a0001c0001t0013g0031 others(8): Show a0001c0001t0004g0224 a0001c0001t0007g0226 a0001c0001t0013g0031 a0001c0001t0013g0139 a0001c0001t0014g0225 a0001c0001t0019g0275 a0001c0001t0019g0276 a0001c0001t0019g0277 a0001c0001t0032g0274 a0001c0001t0032g0278 a0001c0001t0072g0035	11	282	0.0390	-20	c.136 others(39): Show c.136+22511_136+22530delGAAATGAAATGAAATGAAAT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	1/6			chr9	TogoVar
GNB5_chr15_52110100_52196392	52190778	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01943.hp2 HG01952.hp1 others(11): Show HG01934.hp2 HG01943.hp2 HG01952.hp1 HG02004.hp1 HG02055.hp1 HG02132.hp2 HG02148.hp2 HG04115.hp2 NA18747.hp2 NA18971.hp1 NA18979.hp2 NA18984.hp2 NA18988.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0192 a0001c0002t0128 a0001c0002t0129 others(11): Show a0001c0001t0192 a0001c0002t0128 a0001c0002t0129 a0001c0002t0130 a0001c0002t0131 a0001c0002t0132 a0001c0002t0133 a0001c0002t0134 a0001c0002t0135 a0001c0002t0136 a0001c0002t0137 a0001c0002t0139 a0001c0002t0140 a0001c0003t0126	a0001c0001t0192g0267 a0001c0002t0128g0273 a0001c0002t0129g0275 others(11): Show a0001c0001t0192g0267 a0001c0002t0128g0273 a0001c0002t0129g0275 a0001c0002t0130g0274 a0001c0002t0131g0272 a0001c0002t0132g0276 a0001c0002t0133g0271 a0001c0002t0134g0277 a0001c0002t0135g0270 a0001c0002t0136g0268 a0001c0002t0137g0266 a0001c0002t0139g0269 a0001c0002t0140g0265 a0001c0003t0126g0313	14	366	0.0383	-20	c.-19 others(35): Show c.-19+524_-19+543delTTTTTTTTTTTTTTTTTTTT	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	1/12			chr15	TogoVar
GNE_chr9_36209441_36281978	36274068	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0346 a0001c0001t0044g0346	1	356	0.0028	-20	c.51+ others(35): Show c.51+2806_51+2825delCACACACACACACACACACA	GNE	ENSG00000159921.20	transcript	ENST00000396594.8	protein_coding	1/11			chr9	TogoVar
GNG12_chr1_67696475_67838467	67786971	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTATGTA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0262 a0001c0001t0031g0262	1	274	0.0037	-20	c.-76 others(37): Show c.-76-9484_-76-9465delTACATACACACACACACACA	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	1/3			chr1	TogoVar
GNG2_chr14_51855612_51974795	51919140	GATTTTAC others(13): Show GATTTTACTCTAAATTTTATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(110): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG01099.hp2 HG01243.hp1 HG01496.hp2 HG01891.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03688.hp2 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG06807.hp1 NA18747.hp2 NA18941.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18982.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19065.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp2 NA19091.hp2 NA20129.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0050 a0001c0001t0051 a0001c0001t0055 a0001c0001t0059 a0001c0001t0071 a0001c0001t0072 a0001c0002t0045 a0001c0002t0074 a0001c0002t0075	a0001c0001t0001g0010 a0001c0001t0001g0057 a0001c0001t0001g0074 others(110): Show a0001c0001t0001g0010 a0001c0001t0001g0057 a0001c0001t0001g0074 a0001c0001t0001g0114 a0001c0001t0001g0136 a0001c0001t0001g0174 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0242 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0291 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0359 a0001c0001t0002g0049 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0092 a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0155 a0001c0001t0002g0224 a0001c0001t0002g0237 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0314 a0001c0001t0002g0320 a0001c0001t0002g0329 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0003g0374 a0001c0001t0003g0376 a0001c0001t0003g0377 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0189 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0341 a0001c0001t0004g0372 a0001c0001t0005g0011 a0001c0001t0005g0111 a0001c0001t0005g0130 a0001c0001t0005g0175 a0001c0001t0005g0187 a0001c0001t0005g0302 a0001c0001t0005g0333 a0001c0001t0008g0042 a0001c0001t0008g0069 a0001c0001t0008g0205 a0001c0001t0008g0270 a0001c0001t0008g0342 a0001c0001t0008g0355 a0001c0001t0009g0082 a0001c0001t0009g0101 a0001c0001t0009g0103 a0001c0001t0009g0138 a0001c0001t0009g0188 a0001c0001t0009g0268 a0001c0001t0009g0335 a0001c0001t0010g0089 a0001c0001t0010g0126 a0001c0001t0010g0166 a0001c0001t0010g0238 a0001c0001t0010g0316 a0001c0001t0010g0318 a0001c0001t0011g0280 a0001c0001t0013g0363 a0001c0001t0016g0133 a0001c0001t0016g0137 a0001c0001t0016g0139 a0001c0001t0016g0140 a0001c0001t0016g0304 a0001c0001t0017g0045 a0001c0001t0017g0353 a0001c0001t0018g0047 a0001c0001t0019g0325 a0001c0001t0019g0326 a0001c0001t0020g0051 a0001c0001t0020g0375 a0001c0001t0021g0091 a0001c0001t0021g0279 a0001c0001t0022g0210 a0001c0001t0024g0048 a0001c0001t0024g0271 a0001c0001t0026g0098 a0001c0001t0027g0190 a0001c0001t0028g0104 a0001c0001t0028g0105 a0001c0001t0028g0181 a0001c0001t0030g0308 a0001c0001t0034g0365 a0001c0001t0035g0366 a0001c0001t0036g0286 a0001c0001t0037g0053 a0001c0001t0039g0348 a0001c0001t0050g0207 a0001c0001t0051g0124 a0001c0001t0055g0204 a0001c0001t0059g0343 a0001c0001t0071g0203 a0001c0001t0072g0119 a0001c0002t0045g0134 a0001c0002t0074g0008 a0001c0002t0075g0040	113	380	0.2974	-20	c.-29 others(39): Show c.-29-31488_-29-31469delTTTTACTCTAAATTTTATAA	GNG2	ENSG00000186469.9	transcript	ENST00000556766.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
GNG4_chr1_235542685_235654784	235626958	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG01952.hp2 others(13): Show HG01884.hp1 HG01891.hp1 HG01952.hp2 HG02257.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03540.hp2 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0014 a0001c0001t0040 others(9): Show a0001c0001t0012 a0001c0001t0014 a0001c0001t0040 a0001c0002t0003 a0001c0002t0004 a0001c0002t0025 a0001c0002t0027 a0001c0002t0037 a0001c0002t0046 a0001c0002t0053 a0001c0002t0054 a0001c0002t0106	a0001c0001t0012g0259 a0001c0001t0014g0014 a0001c0001t0040g0324 others(13): Show a0001c0001t0012g0259 a0001c0001t0014g0014 a0001c0001t0040g0324 a0001c0002t0003g0020 a0001c0002t0003g0092 a0001c0002t0003g0102 a0001c0002t0004g0007 a0001c0002t0004g0135 a0001c0002t0004g0252 a0001c0002t0025g0019 a0001c0002t0027g0314 a0001c0002t0037g0018 a0001c0002t0046g0015 a0001c0002t0053g0003 a0001c0002t0054g0103 a0001c0002t0106g0328	16	330	0.0485	-20	c.-12 others(41): Show c.-123+22684_-123+22703delTTTTTTTTTTTTTTTTTTTT	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	1/3			chr1	TogoVar
GNG7_chr19_2506219_2707694	2592906	AAAGAAGG others(13): Show AAAGAAGGAAGGAAGGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0119 a0001c0001t0011g0119	1	206	0.0049	-20	c.-77 others(39): Show c.-77-37738_-77-37719delCCTCTCCTTCCTTCCTTCTT	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4			chr19	TogoVar

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