Joint Open Genome and Omics Platform (JoGo)

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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GHR_chr5_42418439_42726878	42579120	TAGATAGA others(32): Show TAGATAGATAGATAGATAGATGATAGATAGATATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0141 a0001c0001t0015g0141	1	210	0.0048	-39	c.70+ others(56): Show c.70+13178_70+13216delGATAGATAGATAGATAGATGATAGATAG ATATAGATAGA		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
GIGYF1_chr7_100674507_100699250	100694312	ACCGCCGC others(32): Show ACCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02965.hp2 HG03225.hp2 others(2): Show HG01243.hp2 HG02965.hp2 HG03225.hp2 HG03486.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0193 a0001c0001t0015g0028 a0001c0001t0015g0195 a0001c0001t0003g0193 a0001c0001t0015g0028 a0001c0001t0015g0195	5	398	0.0126	-39	c.-13 others(50): Show c.-1340_-1302delCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGG		GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding					63		chr7	TogoVar
GJA10_chr6_89889469_89901120	89898170	CCTTCCCT others(32): Show CCTTCCCTTCCCTTCCTTTCCTTTCCTTTCCTTTCCTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01099.hp1 others(13): Show HG00140.hp2 HG00741.hp2 HG01099.hp1 HG01167.hp2 HG01175.hp2 HG02040.hp2 HG02572.hp2 HG02602.hp1 HG02717.hp2 HG03041.hp2 HG03239.hp1 HG03239.hp2 HG03710.hp1 NA18982.hp1 NA18995.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	16	386	0.0415	-39	c.20 others(50): Show c.2071_*2109delCTTCCCTTCCCTTCCTTTCCTTTCCTTTCCTTTC CTTTT		GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding					2051		chr6	TogoVar
GLI3_chr7_41955949_42242209	41968686	GAAGAAAG others(32): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0018	a0001c0006t0018g0115 a0001c0006t0018g0115	1	158	0.0063	-39	c.210 others(56): Show c.2104-802_2104-764delTCTTTCTTTCTTCTTTCTTTCTTTCTTT CTTTCTTTCTT		GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	13/14						chr7	TogoVar
GLIS3_chr9_3819127_4305068	3953763	CTCTCTCT others(32): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00558.hp2 others(58): Show HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01361.hp1 HG01433.hp2 HG01517.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02451.hp2 HG02622.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03834.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18946.hp1 NA18963.hp2 NA18989.hp2 NA18992.hp2 NA19011.hp2 NA19062.hp1 NA19062.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0012 a0015 a0018 a0019	a0001c0001 a0002c0002 a0003c0004 others(8): Show a0001c0001 a0002c0002 a0003c0004 a0004c0003 a0005c0005 a0008c0008 a0009c0006 a0012c0029 a0015c0024 a0018c0020 a0019c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0040 a0001c0001t0062 a0001c0001t0068 a0001c0001t0070 a0001c0001t0078 a0001c0001t0081 a0001c0001t0090 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0012 a0002c0002t0013 a0002c0002t0023 a0002c0002t0024 a0002c0002t0026 a0002c0002t0033 a0002c0002t0052 a0002c0002t0059 a0002c0002t0076 a0002c0002t0082 a0003c0004t0075 a0004c0003t0014 a0005c0005t0007 a0005c0005t0020 a0008c0008t0015 a0009c0006t0032 a0012c0029t0001 a0015c0024t0061 a0018c0020t0002 a0019c0021t0002	a0001c0001t0001g0101 a0001c0001t0001g0121 a0001c0001t0001g0141 others(58): Show a0001c0001t0001g0101 a0001c0001t0001g0121 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0162 a0001c0001t0002g0114 a0001c0001t0002g0147 a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0004g0081 a0001c0001t0005g0145 a0001c0001t0005g0151 a0001c0001t0005g0173 a0001c0001t0006g0083 a0001c0001t0006g0084 a0001c0001t0007g0045 a0001c0001t0008g0130 a0001c0001t0011g0043 a0001c0001t0016g0013 a0001c0001t0019g0015 a0001c0001t0021g0057 a0001c0001t0021g0095 a0001c0001t0023g0023 a0001c0001t0027g0131 a0001c0001t0028g0125 a0001c0001t0028g0161 a0001c0001t0040g0016 a0001c0001t0062g0169 a0001c0001t0068g0098 a0001c0001t0070g0177 a0001c0001t0078g0155 a0001c0001t0081g0103 a0001c0001t0090g0188 a0002c0002t0001g0179 a0002c0002t0003g0127 a0002c0002t0003g0135 a0002c0002t0005g0140 a0002c0002t0005g0157 a0002c0002t0007g0030 a0002c0002t0007g0074 a0002c0002t0012g0080 a0002c0002t0013g0027 a0002c0002t0023g0086 a0002c0002t0024g0075 a0002c0002t0026g0113 a0002c0002t0033g0011 a0002c0002t0052g0042 a0002c0002t0059g0061 a0002c0002t0076g0133 a0002c0002t0082g0118 a0003c0004t0075g0111 a0004c0003t0014g0056 a0005c0005t0007g0033 a0005c0005t0020g0082 a0008c0008t0015g0062 a0009c0006t0032g0001 a0012c0029t0001g0175 a0015c0024t0061g0085 a0018c0020t0002g0112 a0019c0021t0002g0153	61	188	0.3245	-39	c.171 others(60): Show c.1711-16613_1711-16575delATATATAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGA		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10						chr9	TogoVar
GLP2R_chr17_9820924_9897099	9879254	TATAAAAT others(32): Show TATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(38): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00639.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01192.hp2 HG01255.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01952.hp2 HG02055.hp2 HG02273.hp2 HG02630.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG03098.hp1 HG03453.hp1 HG03490.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA19043.hp1 NA19054.hp2 NA19079.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0002c0002t0003 others(4): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0003 a0002c0002t0016 a0002c0002t0017 a0002c0002t0018 a0003c0004t0004	a0001c0001t0001g0094 a0001c0001t0001g0119 a0001c0001t0001g0121 others(37): Show a0001c0001t0001g0094 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0176 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0337 a0001c0001t0001g0366 a0001c0001t0004g0008 a0001c0001t0004g0033 a0001c0001t0004g0090 a0001c0001t0004g0185 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0219 a0001c0001t0004g0222 a0002c0002t0003g0050 a0002c0002t0003g0124 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0157 a0002c0002t0003g0166 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0173 a0002c0002t0003g0206 a0002c0002t0003g0214 a0002c0002t0003g0225 a0002c0002t0003g0226 a0002c0002t0003g0227 a0002c0002t0003g0310 a0002c0002t0016g0158 a0002c0002t0017g0228 a0002c0002t0018g0147 a0003c0004t0004g0313	41	380	0.1079	-39	c.114 others(58): Show c.1146-1083_1146-1045delTAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAA		GLP2R	ENSG00000065325.13	transcript	ENST00000262441.10	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
GLT1D1_chr12_128848478_128989968	128971707	TCCCCCCT others(32): Show TCCCCCCTCCCTCCTCCCTTCCCCCCTCCATCCTCCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02080.hp1 HG02109.hp1 others(10): Show HG01516.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02615.hp1 HG02698.hp2 HG02723.hp2 HG02970.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG04199.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0006 a0002c0007t0001	a0001c0001t0001g0040 a0001c0001t0001g0076 a0001c0001t0001g0090 others(10): Show a0001c0001t0001g0040 a0001c0001t0001g0076 a0001c0001t0001g0090 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0002g0179 a0001c0001t0002g0219 a0001c0001t0002g0298 a0001c0002t0001g0026 a0001c0002t0001g0152 a0001c0002t0002g0025 a0001c0004t0006g0112 a0002c0007t0001g0209	13	320	0.0406	-39	c.880 others(58): Show c.880-11216_880-11178delCTCCCTCCTCCCTTCCCCCCTCCATC CTCCCTTCCCCCC		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021867	AAAGAAGA others(32): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03041.hp1 HG01109.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0217 a0001c0003t0001g0219 a0001c0003t0001g0217 a0001c0003t0001g0219	2	416	0.0048	-39	c.-16 others(56): Show c.-163-415_-163-377delCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTT		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021917	AGAAGAAG others(32): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18956.hp1 NA18984.hp2 HG03453.hp2 NA18956.hp1 NA18984.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0214 a0001c0003t0001g0292 a0001c0003t0001g0302 a0001c0003t0001g0214 a0001c0003t0001g0292 a0001c0003t0001g0302	3	416	0.0072	-39	c.-16 others(56): Show c.-163-465_-163-427delCTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021971	GGAAGAGG others(32): Show GGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	416	0.0024	-39	c.-16 others(56): Show c.-163-519_-163-481delTTCTTCTTCTTCTTCTTCTTCTTCTTCC TCTTCCTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104022019	AGAAAAAG others(32): Show AGAAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02922.hp1 HG03130.hp1 HG02723.hp1 HG02922.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0109	3	416	0.0072	-39	c.-16 others(56): Show c.-163-567_-163-529delCCCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTTTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GMPR_chr6_16233587_16300549	16263749	GAGGTCAG others(32): Show GAGGTCAGGGCACAGAAATAAGGGATTGGGGTGCAGAGAT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01167.hp2 others(13): Show HG00642.hp1 HG00738.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01433.hp1 HG02071.hp1 HG02300.hp2 HG02735.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03471.hp2 HG03579.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0065 a0001c0001t0001g0112 a0001c0001t0001g0300 others(13): Show a0001c0001t0001g0065 a0001c0001t0001g0112 a0001c0001t0001g0300 a0001c0001t0001g0327 a0001c0001t0003g0056 a0001c0001t0003g0100 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0005g0062 a0001c0001t0005g0066	16	344	0.0465	-39	c.465 others(56): Show c.465+9055_465+9093delGGTCAGGGCACAGAAATAAGGGATTGGG GTGCAGAGATA		GMPR	ENSG00000137198.10	transcript	ENST00000259727.5	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
GNA14_chr9_77418079_77653322	77618596	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02280.hp1 others(3): Show HG01070.hp2 HG01071.hp2 HG02280.hp1 HG02886.hp2 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0009 a0001c0003t0002 a0001c0004t0002 a0001c0001t0009 a0001c0003t0002 a0001c0004t0002	a0001c0001t0009g0154 a0001c0003t0002g0196 a0001c0003t0002g0197 others(3): Show a0001c0001t0009g0154 a0001c0003t0002g0196 a0001c0003t0002g0197 a0001c0004t0002g0180 a0001c0004t0002g0201 a0001c0004t0002g0202	6	240	0.0250	-39	c.124 others(58): Show c.124+29035_124+29073delAAAAAAAAAAAAAAATATATATATAT ATATATATATATA		GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6						chr9	TogoVar
GNA14_chr9_77418079_77653322	77618598	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01175.hp1 HG01192.hp1 others(33): Show HG00408.hp1 HG01175.hp1 HG01192.hp1 HG01261.hp1 HG01433.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02083.hp1 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02602.hp1 HG02970.hp1 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03831.hp1 HG06807.hp1 NA18962.hp2 NA18968.hp2 NA18980.hp1 NA18988.hp1 NA19004.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0016 a0002c0019 a0003c0017	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(10): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0003t0002 a0001c0016t0002 a0002c0019t0022 a0003c0017t0002	a0001c0001t0002g0192 a0001c0001t0002g0204 a0001c0001t0002g0211 others(33): Show a0001c0001t0002g0192 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0001t0005g0185 a0001c0001t0005g0188 a0001c0001t0005g0191 a0001c0001t0005g0199 a0001c0001t0005g0210 a0001c0001t0005g0217 a0001c0001t0007g0189 a0001c0001t0007g0193 a0001c0001t0007g0209 a0001c0001t0008g0177 a0001c0001t0008g0190 a0001c0001t0009g0155 a0001c0001t0017g0179 a0001c0002t0001g0032 a0001c0002t0001g0065 a0001c0002t0001g0073 a0001c0002t0002g0171 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0198 a0001c0002t0002g0200 a0001c0002t0002g0203 a0001c0002t0002g0208 a0001c0002t0002g0215 a0001c0002t0002g0218 a0001c0002t0002g0230 a0001c0002t0008g0172 a0001c0002t0008g0182 a0001c0003t0002g0175 a0001c0003t0002g0207 a0001c0016t0002g0206 a0002c0019t0022g0240 a0003c0017t0002g0214	36	240	0.1500	-39	c.124 others(58): Show c.124+29033_124+29071delAAAAAAAAAAAAAAAAATATATATAT ATATATATATATA		GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6						chr9	TogoVar
GNA14_chr9_77418079_77653322	77618600	ATATATAT others(32): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02895.hp2 HG02897.hp1 others(3): Show HG02148.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03209.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009	a0001c0001t0003 a0001c0002t0001 a0001c0006t0010 others(1): Show a0001c0001t0003 a0001c0002t0001 a0001c0006t0010 a0001c0009t0001	a0001c0001t0003g0123 a0001c0002t0001g0142 a0001c0002t0001g0158 others(3): Show a0001c0001t0003g0123 a0001c0002t0001g0142 a0001c0002t0001g0158 a0001c0006t0010g0159 a0001c0009t0001g0156 a0001c0009t0001g0157	6	240	0.0250	-39	c.124 others(58): Show c.124+29031_124+29069delAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATA		GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6						chr9	TogoVar
GNAL_chr18_11684264_11890685	11769119	ATTATATG others(32): Show ATTATATGTAATATATATTATAATATAGATTATATAAATT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18962.hp1 NA18977.hp1 others(3): Show NA18950.hp2 NA18962.hp1 NA18977.hp1 NA19000.hp2 NA19010.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 a0001c0001t0100 a0001c0001t0102	a0001c0001t0002g0215 a0001c0001t0002g0223 a0001c0001t0008g0129 others(3): Show a0001c0001t0002g0215 a0001c0001t0002g0223 a0001c0001t0008g0129 a0001c0001t0019g0130 a0001c0001t0100g0132 a0001c0001t0102g0131	6	248	0.0242	-39	c.624 others(58): Show c.624+15175_624+15213delTTATATGTAATATATATTATAATATA GATTATATAAATT		GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11						chr18	TogoVar
GNAL_chr18_11747085_11890685	11769119	ATTATATG others(32): Show ATTATATGTAATATATATTATAATATAGATTATATAAATT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18962.hp2 NA18977.hp2 others(6): Show NA18950.hp1 NA18962.hp2 NA18977.hp2 NA18990.hp1 NA19000.hp1 NA19010.hp2 NA19070.hp2 NA19077.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0028 a0001c0001t0032 a0001c0001t0082 a0001c0001t0127	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0081 others(6): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0081 a0001c0001t0006g0029 a0001c0001t0008g0030 a0001c0001t0028g0034 a0001c0001t0032g0033 a0001c0001t0082g0036 a0001c0001t0127g0035	9	284	0.0317	-39	c.393 others(58): Show c.393+15175_393+15213delTTATATGTAATATATATTATAATATA GATTATATAAATT		GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11						chr18	TogoVar
GNG11_chr7_93916735_93933610	93930201	CCTTCCTT others(32): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01975.hp2 HG01978.hp1 others(1): Show HG01261.hp1 HG01975.hp2 HG01978.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0018 a0001c0001t0003g0012 a0001c0001t0001g0018 a0001c0001t0003g0012	4	438	0.0091	-39	c.39 others(50): Show c.3986_*4024delCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCT TCTTT		GNG11	ENSG00000127920.6	transcript	ENST00000248564.6	protein_coding					1592		chr7	TogoVar
GNG11_chr7_93916735_93933610	93930205	CCTTCCTT others(32): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTCTTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	1	438	0.0023	-39	c.39 others(50): Show c.3990_*4028delCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTCTT TCTTT		GNG11	ENSG00000127920.6	transcript	ENST00000248564.6	protein_coding					1596		chr7	TogoVar
GNG7_chr19_2506219_2707694	2661263	AAGAAAGA others(32): Show AAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0019 a0001c0001t0074g0019	1	206	0.0049	-39	c.-13 others(60): Show c.-134-15022_-134-14984delCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTCTTTCT		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4						chr19	TogoVar
GNG8_chr19_46628953_46641202	46635702	GGGAGATG others(32): Show GGGAGATGGAGGGAGGGGGTGTGGGGTGGGAGAGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01433.hp1 HG02572.hp1 others(7): Show HG00733.hp2 HG01433.hp1 HG02572.hp1 HG02630.hp1 HG02886.hp2 HG03195.hp2 HG03209.hp2 HG03579.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0100 a0001c0001t0002g0099	10	438	0.0228	-39	c.-44 others(54): Show c.-44+406_-44+444delTCCATCCTCTCCCACCCCACACCCCCTCCC TCCATCTCC		GNG8	ENSG00000167414.5	transcript	ENST00000693335.1	protein_coding	1/2						chr19	TogoVar
GOLGA3_chr12_132763914_132833869	132831922	CGCCACTC others(32): Show CGCCACTCTGACGTGGTGAAACAAACCATGGACCACCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0022 a0022	a0022c0033 a0022c0033	a0022c0033t0002 a0022c0033t0002	a0022c0033t0002g0186 a0022c0033t0002g0186	1	308	0.0033	-39	c.-33 others(50): Show c.-3342_-3304delATGGGTGGTCCATGGTTTGTTTCACCACGTCAGA GTGGC		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding					3054		chr12	TogoVar
GP1BA_chr17_4927277_4940023	4933822	AAGCCCGA others(32): Show AAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG06807.hp1 HG06807.hp1	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0002 a0008c0025t0002	a0008c0025t0002g0001 a0008c0025t0002g0001	1	424	0.0024	-39	c.123 others(48): Show c.1233_1271delAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCAC CCC	p.Glu others(13): Show p.Glu412_Pro424del	GP1BA	ENSG00000185245.9	transcript	ENST00000329125.6	protein_coding	2/2	1328/2514	1233/1959	411/652		INFO_REALIGN_3_PRIME	chr17	TogoVar
GP1BA_chr17_4927277_4940023	4933876	GGAGCCCA others(32): Show GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(263): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18994.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0010 others(1): Show a0001 a0008 a0010 a0014	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0014 a0001c0020 a0008c0024 a0010c0013 a0014c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0003t0001 a0001c0004t0002 a0001c0014t0002 a0001c0020t0001 a0008c0024t0002 a0010c0013t0001 a0014c0018t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0001t0008g0002 a0001c0003t0001g0001 a0001c0004t0002g0001 a0001c0014t0002g0001 a0001c0020t0001g0002 a0008c0024t0002g0001 a0010c0013t0001g0001 a0014c0018t0002g0001	266	424	0.6274	-39	c.131 others(48): Show c.1311_1349delAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCAC CCC	p.Glu others(13): Show p.Glu438_Pro450del	GP1BA	ENSG00000185245.9	transcript	ENST00000329125.6	protein_coding	2/2	1406/2514	1311/1959	437/652		INFO_REALIGN_3_PRIME	chr17	TogoVar
GP6_chr19_55008705_55043264	55029335	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0375 a0004c0013t0002g0375	1	441	0.0023	-39	c.326 others(56): Show c.326-1512_326-1474delTATATATATATATATATATATATATATA TATATATATAT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55029342	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02738.hp2 NA18747.hp1 others(2): Show HG00323.hp2 HG02738.hp2 NA18747.hp1 NA18999.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0001g0180 others(2): Show a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0001g0180 a0001c0001t0001g0252 a0001c0001t0001g0260	5	441	0.0113	-39	c.326 others(56): Show c.326-1519_326-1481delAAAAAAATATATATATATATATATATAT ATATATATATA		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7						chr19	TogoVar
GPBP1L1_chr1_45622304_45691533	45689695	GGGCGTGG others(32): Show GGGCGTGGTGGCATATGCCTGTAGTCCCAGCTACTCAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	292	0.0034	-39	c.-44 others(50): Show c.-4465_-4427delTCCTGAGTAGCTGGGACTACAGGCATATGCCACC ACGCC		GPBP1L1	ENSG00000159592.11	transcript	ENST00000355105.8	protein_coding					3163		chr1	TogoVar
GPR82_chrX_41719181_41735130	41734140	AAAACAGC others(32): Show AAAACAGCACCCAGACCTTCTGGGCACAGGCACCATTCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0001	1	291	0.0034	-39	c.61 others(50): Show c.6104_*6142delAAACAGCACCCAGACCTTCTGGGCACAGGCACCA TTCAG		GPR82	ENSG00000171657.6	transcript	ENST00000302548.5	protein_coding					4011		chrX	TogoVar
GRB10_chr7_50585068_50787896	50713605	ACCATCAC others(32): Show ACCATCACCTCCACCTCCTCCACCATCACCTCCACCTCCC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp2 HG01192.hp1 others(9): Show HG01074.hp1 HG01109.hp2 HG01192.hp1 HG01255.hp2 HG01952.hp2 HG01993.hp2 HG02735.hp2 NA18960.hp1 NA18978.hp2 NA18984.hp1 NA19001.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0007 a0001c0001t0008 a0001c0003t0006 others(1): Show a0001c0001t0007 a0001c0001t0008 a0001c0003t0006 a0001c0004t0008	a0001c0001t0007g0254 a0001c0001t0007g0258 a0001c0001t0007g0262 others(9): Show a0001c0001t0007g0254 a0001c0001t0007g0258 a0001c0001t0007g0262 a0001c0001t0008g0260 a0001c0003t0006g0248 a0001c0003t0006g0249 a0001c0003t0006g0250 a0001c0003t0006g0256 a0001c0003t0006g0257 a0001c0003t0006g0259 a0001c0003t0006g0261 a0001c0004t0008g0251	12	278	0.0432	-39	c.52- others(54): Show c.52-9736_52-9698delGGGAGGTGGAGGTGATGGTGGAGGAGGTGG AGGTGATGG		GRB10	ENSG00000106070.20	transcript	ENST00000401949.6	protein_coding	4/18						chr7	TogoVar
GRIN1_chr9_137134154_137173756	137156379	CCCCTGCT others(32): Show CCCCTGCTCCCCCAAGGTAAGGGCCAGCATCTAACCCCAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00642.hp1 others(29): Show HG00140.hp1 HG00280.hp1 HG00642.hp1 HG00733.hp2 HG01069.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01952.hp1 HG02293.hp2 HG02300.hp2 HG02738.hp2 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03704.hp2 HG04115.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0001 a0001c0009t0001 a0001c0002t0001 a0001c0009t0001	a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 others(25): Show a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0145 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0176 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0203 a0001c0009t0001g0174	32	298	0.1074	-39	c.672 others(54): Show c.672-267_672-229delCCAGCATCTAACCCCATCCCTGCTCCCCCA AGGTAAGGG		GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIN3B_chr19_995419_1014732	1001587	CCCTCCCG others(32): Show CCCTCCCGTGGCCAGCAAGGAGGTCCCAACTCCGGACATG	C C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	446	0.0022	-39	c.426 others(54): Show c.426+725_426+763delCCTCCCGTGGCCAGCAAGGAGGTCCCAACT CCGGACATG		GRIN3B	ENSG00000116032.5	transcript	ENST00000234389.3	protein_coding	1/8						chr19	TogoVar
GRIP1_chr12_66342431_66684076	66531247	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02572.hp2 others(3): Show HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02886.hp1 HG03471.hp2 NA19043.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0002 a0002c0002t0002 a0004c0007t0001 a0001c0001t0002 a0002c0002t0002 a0004c0007t0001	a0001c0001t0002g0134 a0001c0001t0002g0218 a0001c0001t0002g0222 others(3): Show a0001c0001t0002g0134 a0001c0001t0002g0218 a0001c0001t0002g0222 a0002c0002t0002g0028 a0002c0002t0002g0173 a0004c0007t0001g0096	6	224	0.0268	-39	c.419 others(56): Show c.419-1372_419-1334delATATATATATATATATATATATATATAT ATATATTTTTT		GRIP1	ENSG00000155974.14	transcript	ENST00000359742.9	protein_coding	4/24						chr12	TogoVar
GRK4_chr4_2958571_3045760	2960919	TCGATATT others(32): Show TCGATATTATTTTAATATTATATCAATATTATTATATTAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01099.hp2 others(15): Show HG00642.hp1 HG01081.hp1 HG01099.hp2 HG01256.hp2 HG01258.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01975.hp2 HG02132.hp2 HG02280.hp2 HG04204.hp1 HG06807.hp1 NA18906.hp2 NA18944.hp2 NA18966.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0015	a0001c0001 a0002c0002 a0005c0004 others(1): Show a0001c0001 a0002c0002 a0005c0004 a0015c0024	a0001c0001t0001 a0002c0002t0003 a0005c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0003 a0005c0004t0001 a0015c0024t0003	a0001c0001t0001g0074 a0001c0001t0001g0123 a0001c0001t0001g0130 others(15): Show a0001c0001t0001g0074 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0168 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0230 a0002c0002t0003g0237 a0005c0004t0001g0105 a0005c0004t0001g0220 a0015c0024t0003g0051	18	268	0.0672	-39	c.-31 others(50): Show c.-3151_-3113delCGATATTATTTTAATATTATATCAATATTATTAT ATTAA		GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding					2651		chr4	TogoVar
GRM7_chr3_6856115_7746533	7257081	ACTCACTA others(32): Show ACTCACTAAAATAGGTCAACCCTTAGTTAATCCTCAGATT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	80	0.0125	-39	c.737 others(58): Show c.737-41599_737-41561delACTAAAATAGGTCAACCCTTAGTTAA TCCTCAGATTCTC		GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM8_chr7_126433598_127257941	127015176	GAGAAGAA others(32): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp2 HG03139.hp2 HG02723.hp1 HG02965.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0042 a0001c0001t0001g0090 a0001c0001t0001g0009 a0001c0001t0001g0042 a0001c0001t0001g0090	3	108	0.0278	-39	c.727 others(58): Show c.727+91281_727+91319delTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCT		GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	3/10						chr7	TogoVar
GRTP1_chr13_113319163_113369130	113319652	ACACGGTA others(32): Show ACACGGTAGGGCTGGGGCCTCACCTGGGAGAGGGGGACGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	288	0.0035	-39	c.47 others(50): Show c.4797_*4835delCCGTCCCCCTCTCCCAGGTGAGGCCCCAGCCCTA CCGTG		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding					4510		chr13	TogoVar
GRTP1_chr13_113319163_113369130	113367193	TGAAGCCA others(32): Show TGAAGCCAGTCAATTGACCACATGCTGCCTGGTTACAGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	288	0.0035	-39	c.-31 others(50): Show c.-3181_-3143delTCCTGTAACCAGGCAGCATGTGGTCAATTGACTG GCTTC		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding					3064		chr13	TogoVar
GRXCR1_chr4_42887713_43035658	42987219	ATATTATA others(32): Show ATATTATATATTATATATATATAATATATAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01346.hp1 HG04228.hp2 others(6): Show HG00140.hp1 HG01346.hp1 HG04228.hp2 NA18941.hp1 NA18949.hp2 NA18957.hp2 NA18965.hp1 NA19088.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0003c0003t0001	a0001c0001t0001g0056 a0001c0001t0001g0121 a0001c0001t0003g0135 others(6): Show a0001c0001t0001g0056 a0001c0001t0001g0121 a0001c0001t0003g0135 a0001c0001t0003g0191 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0004g0192 a0003c0003t0001g0293	9	338	0.0266	-39	c.627 others(58): Show c.627+24086_627+24124delTATTATATATTATATATATATAATAT ATAATATATATAT		GRXCR1	ENSG00000215203.3	transcript	ENST00000399770.3	protein_coding	2/3						chr4	TogoVar
GSG1L_chr16_27782528_28068714	27996508	TACTCTCT others(32): Show TACTCTCTCTCTCAGAATATAATTATTAATTAATATTCAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0167 a0001c0001t0002g0159 a0001c0002t0002g0157 a0001c0001t0001g0167 a0001c0001t0002g0159 a0001c0002t0002g0157	3	240	0.0125	-39	c.350 others(58): Show c.350-33344_350-33306delGTGAATATTAATTAATAATTATATTC TGAGAGAGAGAGT		GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6						chr16	TogoVar
GSTA4_chr6_52972953_53000284	52986916	GTTGATTT others(32): Show GTTGATTTCACTTCTGTGTAGTATTTACTTCAGAAAGTAC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0070 a0001c0001t0005g0070	1	324	0.0031	-39	c.139 others(54): Show c.139+402_139+440delGTACTTTCTGAAGTAAATACTACACAGAAG TGAAATCAA		GSTA4	ENSG00000170899.11	transcript	ENST00000370963.9	protein_coding	3/6						chr6	TogoVar
GSTM4_chr1_109651099_109666700	109654177	AGAAAGAA others(32): Show AGAAAGAAAGAAAGGAAAGAAAGAAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02258.hp1 NA19011.hp1 HG00733.hp2 HG02258.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0011 a0001c0001t0002 a0002c0003t0011	a0001c0001t0002g0005 a0001c0001t0002g0085 a0002c0003t0011g0003 a0001c0001t0002g0005 a0001c0001t0002g0085 a0002c0003t0011g0003	3	364	0.0082	-39	c.-22 others(50): Show c.-2212_-2174delGAAAGAAAGAAAGGAAAGAAAGAAAAGAAAGAAA GAAAG		GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding					1921		chr1	TogoVar
GSTM5_chr1_109707251_109723268	109719530	ATACATAA others(32): Show ATACATAAATGAATGGTGGGACACTGCATTCCAATGGAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	394	0.0025	-39	c.21 others(50): Show c.2105_*2143delTACATAAATGAATGGTGGGACACTGCATTCCAAT GGAAC		GSTM5	ENSG00000134201.12	transcript	ENST00000256593.8	protein_coding					1263		chr1	TogoVar
GTF2A1_chr14_81170452_81225959	81211877	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATAACTAGAG	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	350	0.0029	-39	c.132 others(56): Show c.132+4497_132+4535delCTCTAGTTATATATATATATATATATAT ATATATATATA		GTF2A1	ENSG00000165417.12	transcript	ENST00000553612.6	protein_coding	2/8						chr14	TogoVar
GUCY2C_chr12_14607632_14701599	14684586	TTCCTTCC others(32): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	236	0.0042	-39	c.396 others(56): Show c.396-1368_396-1330delGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGA		GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding	3/26						chr12	TogoVar
GUCY2C_chr12_14607632_14701599	14696962	GTATATAT others(32): Show GTATATATATATATATATATATATATATAAAGTGTATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01192.hp1 HG01978.hp2 others(10): Show HG01070.hp2 HG01192.hp1 HG01978.hp2 HG01993.hp1 HG02293.hp2 HG02622.hp2 HG02683.hp2 HG02738.hp2 HG02970.hp1 HG03139.hp2 HG03471.hp2 HG03516.hp1 NA18972.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0014 a0001c0001 a0001c0002 a0007c0014	a0001c0001t0001 a0001c0002t0001 a0007c0014t0001 a0001c0001t0001 a0001c0002t0001 a0007c0014t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0002t0001g0005 a0001c0002t0001g0029 a0007c0014t0001g0047	13	236	0.0551	-39	c.-55 others(48): Show c.-553_-515delTATATACACTTTATATATATATATATATATATATAT ATA		GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding					364		chr12	TogoVar
GUCY2C_chr12_14607632_14701599	14696995	GTATATAT others(32): Show GTATATATATATATATATATATATATATATAAAGTGTATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG01175.hp2 others(13): Show HG00642.hp2 HG00733.hp1 HG01175.hp2 HG01255.hp1 HG01258.hp1 HG01928.hp2 HG01975.hp1 HG02273.hp1 HG02886.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03209.hp2 HG03831.hp2 NA19056.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0001c0016	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0012t0001 a0001c0016t0001	a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0041 others(13): Show a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0105 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0002t0001g0026 a0001c0003t0001g0015 a0001c0012t0001g0074 a0001c0016t0001g0079	16	236	0.0678	-39	c.-58 others(48): Show c.-586_-548delTATACACTTTATATATATATATATATATATATATAT ATA		GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding					397		chr12	TogoVar
GXYLT1_chr12_42076845_42149874	42144454	GGCCCGCG others(32): Show GGCCCGCGACGCCGGCGCCTCTCACGGCGCCGCGTCCGCC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02015.hp2 HG02809.hp2 NA19062.hp2 HG02015.hp2 HG02809.hp2 NA19062.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0051 a0002c0004t0002 a0002c0004t0051	a0002c0004t0002g0007 a0002c0004t0051g0342 a0002c0004t0002g0007 a0002c0004t0051g0342	3	398	0.0075	-39	c.154 others(46): Show c.154_192delGGCGGACGCGGCGCCGTGAGAGGCGCCGGCGTCGCGGG C	p.Gly others(11): Show p.Gly52_Gly64del	GXYLT1	ENSG00000151233.11	transcript	ENST00000398675.8	protein_coding	1/8	420/7492	154/1323	52/440			chr12	TogoVar
GZMM_chr19_539053_554922	540041	GCCCCCCA others(32): Show GCCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGCCAGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	398	0.0025	-39	c.-40 others(50): Show c.-4030_-3992delCCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGC CAGGC		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					4011		chr19	TogoVar
GZMM_chr19_539053_554922	540350	CGGGTTTA others(32): Show CGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0152 a0001c0005t0001g0152	1	398	0.0025	-39	c.-37 others(50): Show c.-3721_-3683delGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCC CCCCG		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					3702		chr19	TogoVar
HACE1_chr6_104723094_104864919	104831945	GAAGAGAA others(32): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	346	0.0029	-39	c.534 others(56): Show c.534+1058_534+1096delTCCTCTCTTCTCTTCTCTTCTCTTCTCT TCTCTTCTCTT		HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	6/23						chr6	TogoVar

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Search Results (Total: 1684 hits)