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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SH3RF2_chr5_145931578_146068292	146064676	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 NA18967.hp1 HG01516.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0174 a0001c0001t0002g0163 a0001c0001t0002g0174	2	272	0.0074	-22	c.19 others(33): Show c.1976_*1997delAGAAAGAAAGAAAGAAAGAAAG	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1385		chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064842	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0139 a0004c0006t0001g0139	1	272	0.0037	-22	c.21 others(33): Show c.2142_*2163delAGAAAGAAAGAAAGAAAGAAAG	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1551		chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109238449	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG01891.hp2 others(17): Show HG01167.hp2 HG01243.hp2 HG01891.hp2 HG02055.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02622.hp1 HG02809.hp2 HG02818.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0014 others(2): Show a0001c0001 a0001c0003 a0001c0014 a0001c0022 a0001c0023	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 others(13): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0050 a0001c0001t0060 a0001c0001t0063 a0001c0003t0001 a0001c0003t0002 a0001c0003t0059 a0001c0003t0062 a0001c0014t0066 a0001c0022t0051 a0001c0023t0052	a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0005g0042 others(17): Show a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0005g0042 a0001c0001t0009g0147 a0001c0001t0015g0131 a0001c0001t0016g0127 a0001c0001t0016g0128 a0001c0001t0018g0130 a0001c0001t0018g0133 a0001c0001t0050g0010 a0001c0001t0060g0132 a0001c0001t0063g0094 a0001c0003t0001g0022 a0001c0003t0001g0045 a0001c0003t0002g0079 a0001c0003t0059g0068 a0001c0003t0062g0067 a0001c0014t0066g0066 a0001c0022t0051g0013 a0001c0023t0052g0009	20	172	0.1163	-22	c.573 others(43): Show c.573+108365_573+108386delTGTGTGTGTGTGTGTGTGTGTG	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3YL1_chr2_213144_269032	235720	GGCAGCAT others(15): Show GGCAGCATGGGTCAGGGGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	360	0.0028	-22	c.292 others(39): Show c.292-1470_292-1449delTGCCTCCCCTGACCCATGCTGC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9			chr2	TogoVar
SH3YL1_chr2_213144_269032	235913	TGGGCCAG others(15): Show TGGGCCAGGGGAGGCAGCAGCAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(74): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01891.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03516.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18948.hp2 NA18955.hp1 NA18956.hp2 NA18962.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19058.hp1 NA19062.hp1 NA19064.hp1 NA19067.hp2 NA19081.hp1 NA19087.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(54): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0003t0001g0181 a0001c0004t0001g0141	77	360	0.2139	-22	c.292 others(39): Show c.292-1663_292-1642delGTGCTGCTGCCTCCCCTGGCCC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9			chr2	TogoVar
SH3YL1_chr2_213144_269032	236029	GGCAGCAT others(15): Show GGCAGCATGGGTCAGGGGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	360	0.0028	-22	c.292 others(39): Show c.292-1779_292-1758delTGCCTCCCCTGACCCATGCTGC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9			chr2	TogoVar
SH3YL1_chr2_213144_269032	236185	CCAGGGGA others(15): Show CCAGGGGAGGCAGCAGCATGGGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	360	0.0028	-22	c.292 others(39): Show c.292-1935_292-1914delACCCATGCTGCTGCCTCCCCTG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9			chr2	TogoVar
SHANK1_chr19_50654255_50724802	50694019	CCACACAC others(15): Show CCACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0292 a0001c0003t0003g0292	1	316	0.0032	-22	c.196 others(41): Show c.1964+3055_1964+3076delTGTGTGTGTGTGTGTGTGTGTG	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	15/23			chr19	TogoVar
SHC2_chr19_411589_466033	415517	GATGATGG others(15): Show GATGATGGATGGATGGATGATGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 NA20905.hp2 HG03017.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0002c0004t0005 a0001c0001t0005 a0002c0004t0005	a0001c0001t0005g0047 a0002c0004t0005g0189 a0001c0001t0005g0047 a0002c0004t0005g0189	2	212	0.0094	-22	c.17 others(33): Show c.1789_*1810delACATCATCCATCCATCCATCAT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding		1071		chr19	TogoVar
SHC2_chr19_411589_466033	417826	TGGGTGGA others(15): Show TGGGTGGAGGCCGCGGCCGCATA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	212	0.0094	-22	c.6- others(35): Show c.6-526_*6-505delTATGCGGCCGCGGCCTCCACCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	12/12			chr19	TogoVar
SHC4_chr15_48818741_48968919	48917243	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0004 a0007c0008t0004	a0007c0008t0004g0104 a0007c0008t0004g0104	1	384	0.0026	-22	c.656 others(39): Show c.656+7614_656+7635delCACACACACACACACACACACA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182924691	GAAAGGAA others(15): Show GAAAGGAAAGGAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	302	0.0033	-22	c.118 others(41): Show c.1182+4934_1182+4955delTCTTTCTTTCTTCCTTTCCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182927050	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01358.hp2 HG01978.hp1 others(8): Show HG00423.hp1 HG01358.hp2 HG01978.hp1 HG02129.hp1 HG03041.hp1 HG03195.hp1 HG03471.hp2 NA18982.hp1 NA19007.hp1 NA19057.hp2 homoSapiens_chm13v2.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0009 a0009c0011 a0001c0001 a0001c0009 a0009c0011	a0001c0001t0001 a0001c0009t0001 a0009c0011t0001 a0001c0001t0001 a0001c0009t0001 a0009c0011t0001	a0001c0001t0001g0112 a0001c0001t0001g0178 a0001c0001t0001g0179 others(8): Show a0001c0001t0001g0112 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0244 a0001c0001t0001g0273 a0001c0009t0001g0258 a0001c0009t0001g0260 a0009c0011t0001g0247	11	302	0.0364	-22	c.118 others(41): Show c.1182+2575_1182+2596delTATATATATATATATATATATA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182930547	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01496.hp2 HG02258.hp1 others(1): Show HG01257.hp2 HG01496.hp2 HG02258.hp1 HG02965.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0008 a0005c0005 a0001c0001 a0003c0008 a0005c0005	a0001c0001t0001 a0003c0008t0001 a0005c0005t0001 a0001c0001t0001 a0003c0008t0001 a0005c0005t0001	a0001c0001t0001g0275 a0003c0008t0001g0064 a0005c0005t0001g0049 others(1): Show a0001c0001t0001g0275 a0003c0008t0001g0064 a0005c0005t0001g0049 a0005c0005t0001g0051	4	302	0.0133	-22	c.107 others(39): Show c.1077-817_1077-796delTATATATATATATATATACACA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182930551	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18985.hp1 NA18940.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0156 a0001c0001t0001g0157	2	302	0.0066	-22	c.107 others(39): Show c.1077-821_1077-800delTATATATATATATATATATATA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182930653	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0058 a0003c0006t0001g0058	1	302	0.0033	-22	c.107 others(39): Show c.1077-923_1077-902delCACACACACACACACACACACA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182930683	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03195.hp1 HG03225.hp1 others(3): Show HG02970.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp2 NA18522.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0009 a0003c0006 a0001c0009 a0003c0006	a0001c0009t0001 a0003c0006t0001 a0001c0009t0001 a0003c0006t0001	a0001c0009t0001g0258 a0001c0009t0001g0260 a0003c0006t0001g0057 others(3): Show a0001c0009t0001g0258 a0001c0009t0001g0260 a0003c0006t0001g0057 a0003c0006t0001g0059 a0003c0006t0001g0060 a0003c0006t0001g0061	6	302	0.0199	-22	c.107 others(39): Show c.1077-953_1077-932delTACACACACACACACACACACA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952181	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02886.hp2 HG02723.hp1 HG02886.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0062 a0003c0006t0001g0063 a0003c0006t0001g0062 a0003c0006t0001g0063	2	302	0.0066	-22	c.405 others(37): Show c.405+526_405+547delATATATATATATTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952185	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18971.hp1 HG02622.hp2 NA18971.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0001 a0003c0006t0001 a0002c0002t0001 a0003c0006t0001	a0002c0002t0001g0001 a0003c0006t0001g0056 a0002c0002t0001g0001 a0003c0006t0001g0056	2	302	0.0066	-22	c.405 others(37): Show c.405+522_405+543delATATATATATATATATTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952187	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0300 a0006c0007t0001g0300	1	302	0.0033	-22	c.405 others(37): Show c.405+520_405+541delATATATATATATATATATTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHISA5_chr3_48462876_48509174	48502280	TGATGGCA others(15): Show TGATGGCAGGCTAGATCCTGGTC	T T	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	290	0.0035	-22	c.77- others(36): Show c.77-1009_77-988delGACCAGGATCTAGCCTGCCATC	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	1/5			chr3	TogoVar
SHISA6_chr17_11236213_11569063	11277262	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCTCACA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG06807.hp2 HG03130.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0009 a0002c0005t0009 a0001c0002t0009 a0002c0005t0009	a0001c0002t0009g0135 a0002c0005t0009g0077 a0001c0002t0009g0135 a0002c0005t0009g0077	2	192	0.0104	-22	c.799 others(41): Show c.799+13738_799+13759delTCTCTCTCTCTCTCTCTCACAC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11388788	GTTTATAT others(15): Show GTTTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03130.hp1 NA18522.hp2 HG00408.hp2 HG03130.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0043 a0001c0002t0009 a0001c0001t0001 a0001c0001t0043 a0001c0002t0009	a0001c0001t0001g0169 a0001c0001t0043g0142 a0001c0002t0009g0135 a0001c0001t0001g0169 a0001c0001t0043g0142 a0001c0002t0009g0135	3	192	0.0156	-22	c.895 others(39): Show c.895+9281_895+9302delTTATATATATATATATATATAT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11526880	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03098.hp2 HG01884.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0003 a0002c0005t0009 a0001c0002t0003 a0002c0005t0009	a0001c0002t0003g0093 a0002c0005t0009g0057 a0001c0002t0003g0093 a0002c0005t0009g0057	2	192	0.0104	-22	c.896 others(41): Show c.896-24981_896-24960delATATATATATATATATATATAT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11531211	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01123.hp1 HG02080.hp2 others(3): Show HG00408.hp1 HG01123.hp1 HG02080.hp2 HG02083.hp1 HG02165.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0002t0025	a0001c0001t0002g0038 a0001c0001t0002g0062 a0001c0001t0002g0158 others(3): Show a0001c0001t0002g0038 a0001c0001t0002g0062 a0001c0001t0002g0158 a0001c0001t0005g0089 a0001c0002t0002g0091 a0001c0002t0025g0189	6	192	0.0313	-22	c.896 others(41): Show c.896-20651_896-20630delGTGTGTGTGTGTGTGTGTGTGT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA9_chr16_12896598_13245416	12943318	TGTGTGTG others(15): Show TGTGTGTGTGTGTGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp2 HG02055.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0076 a0001c0001t0053 a0001c0001t0076	a0001c0001t0053g0055 a0001c0001t0076g0108 a0001c0001t0053g0055 a0001c0001t0076g0108	2	214	0.0094	-22	c.691 others(41): Show c.691+26505_691+26526delTGTGTGTGTGTGAGAGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943324	TGTGTGTG others(15): Show TGTGTGTGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0105 a0001c0001t0097g0105	1	214	0.0047	-22	c.691 others(41): Show c.691+26511_691+26532delTGTGTGAGAGAGAGAGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943326	TGTGTGAG others(15): Show TGTGTGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0017 a0001c0001t0075g0017	1	214	0.0047	-22	c.691 others(41): Show c.691+26513_691+26534delTGTGAGAGAGAGAGAGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12968189	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00597.hp2 others(52): Show HG00099.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01167.hp2 HG01255.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02071.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02647.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA19000.hp1 NA19007.hp2 NA19012.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0032 a0001c0001t0040 a0001c0001t0041 a0001c0001t0052 a0001c0001t0064 a0001c0001t0078 a0001c0001t0081 a0001c0001t0085 a0001c0001t0087 a0001c0001t0089 a0001c0001t0090 a0001c0001t0096 a0001c0002t0006 a0001c0002t0009 a0001c0002t0060 a0001c0003t0036 a0001c0004t0001 a0001c0004t0009	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0084 others(52): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0002g0012 a0001c0001t0002g0045 a0001c0001t0002g0115 a0001c0001t0002g0161 a0001c0001t0003g0029 a0001c0001t0003g0096 a0001c0001t0003g0205 a0001c0001t0004g0006 a0001c0001t0004g0009 a0001c0001t0004g0086 a0001c0001t0004g0203 a0001c0001t0007g0134 a0001c0001t0007g0135 a0001c0001t0007g0189 a0001c0001t0008g0128 a0001c0001t0010g0130 a0001c0001t0010g0188 a0001c0001t0011g0126 a0001c0001t0011g0139 a0001c0001t0012g0145 a0001c0001t0016g0200 a0001c0001t0016g0210 a0001c0001t0017g0194 a0001c0001t0020g0187 a0001c0001t0023g0196 a0001c0001t0026g0065 a0001c0001t0026g0146 a0001c0001t0027g0014 a0001c0001t0029g0005 a0001c0001t0032g0062 a0001c0001t0040g0113 a0001c0001t0041g0019 a0001c0001t0052g0100 a0001c0001t0064g0112 a0001c0001t0078g0090 a0001c0001t0081g0170 a0001c0001t0085g0168 a0001c0001t0087g0206 a0001c0001t0089g0143 a0001c0001t0090g0171 a0001c0001t0096g0103 a0001c0002t0006g0185 a0001c0002t0009g0181 a0001c0002t0009g0184 a0001c0002t0060g0183 a0001c0003t0036g0127 a0001c0004t0001g0071 a0001c0004t0009g0072	55	214	0.2570	-22	c.691 others(41): Show c.691+51390_691+51411delAAAAAAAAAAAAAAAAAAAAAA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13121832	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03453.hp1 HG03471.hp1 others(1): Show HG02630.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0063 a0001c0001t0004 a0001c0001t0006 a0001c0001t0063	a0001c0001t0004g0041 a0001c0001t0004g0080 a0001c0001t0006g0079 others(1): Show a0001c0001t0004g0041 a0001c0001t0004g0080 a0001c0001t0006g0079 a0001c0001t0063g0138	4	214	0.0187	-22	c.692 others(41): Show c.692-81532_692-81511delCACACACACACACACACACACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13181294	TATATATA others(15): Show TATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA20905.hp1 HG01346.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0072 a0001c0001t0002 a0001c0001t0072	a0001c0001t0002g0173 a0001c0001t0072g0165 a0001c0001t0002g0173 a0001c0001t0072g0165	2	214	0.0094	-22	c.692 others(41): Show c.692-22098_692-22077delTATATATATATATATATACACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHLD1_chr20_5745401_5869395	5794916	GATATGTA others(15): Show GATATGTAAACTTATTTGTTTAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp2 others(86): Show HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 NA18944.hp2 NA18946.hp1 NA18954.hp1 NA18965.hp2 NA18966.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp1 NA18994.hp2 NA19009.hp2 NA19065.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0004c0005 a0005c0009 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0011 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0004t0002 a0002c0004t0008 a0004c0005t0002 a0005c0009t0001 a0006c0008t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0063 others(86): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0095 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0121 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0188 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0303 a0001c0001t0001g0319 a0001c0001t0003g0024 a0001c0001t0003g0107 a0001c0001t0003g0160 a0001c0001t0003g0255 a0001c0001t0003g0258 a0001c0001t0004g0023 a0001c0001t0004g0149 a0001c0001t0004g0155 a0001c0001t0004g0158 a0001c0001t0004g0163 a0001c0001t0004g0189 a0001c0001t0009g0203 a0001c0002t0001g0129 a0001c0002t0001g0150 a0001c0002t0001g0165 a0001c0002t0001g0250 a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0012 a0001c0002t0002g0053 a0001c0002t0002g0058 a0001c0002t0002g0080 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0103 a0001c0002t0002g0152 a0001c0002t0002g0172 a0001c0002t0002g0193 a0001c0002t0002g0196 a0001c0002t0002g0202 a0001c0002t0002g0217 a0001c0002t0002g0223 a0001c0002t0002g0232 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0251 a0001c0002t0002g0253 a0001c0002t0002g0263 a0001c0002t0002g0281 a0001c0002t0002g0297 a0001c0002t0002g0310 a0001c0002t0005g0275 a0001c0002t0006g0083 a0001c0002t0010g0031 a0001c0002t0011g0013 a0002c0003t0001g0084 a0002c0003t0001g0089 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0180 a0002c0003t0001g0243 a0002c0003t0001g0312 a0002c0003t0003g0219 a0002c0003t0004g0186 a0002c0003t0004g0273 a0002c0003t0004g0305 a0002c0004t0002g0027 a0002c0004t0002g0076 a0002c0004t0002g0276 a0002c0004t0002g0277 a0002c0004t0002g0282 a0002c0004t0008g0064 a0004c0005t0002g0088 a0005c0009t0001g0078 a0006c0008t0001g0111	89	328	0.2713	-22	c.178 others(41): Show c.178+21884_178+21905delTTATTTGTTTACATATGTAAAC	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD1_chr20_5745401_5869395	5817416	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0193 a0001c0002t0002g0193	1	328	0.0031	-22	c.178 others(41): Show c.178+44375_178+44396delCTCTCTCTCTCTCTCTGTGTGT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHOC2_chr10_110914604_111018665	110940910	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	386	0.0026	-22	c.-23 others(43): Show c.-235+21270_-235+21291delTTTTTTTTTTTTTTTTTTTTTT	SHOC2	ENSG00000108061.13	transcript	ENST00000369452.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
SHOX2_chr3_158090905_158111420	158096889	AATATATA others(15): Show AATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0183 a0001c0001t0087g0183	1	380	0.0026	-22	c.11 others(33): Show c.1116_*1137delATATATATATATATATATATAT	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding	5/5	1116		chr3	TogoVar
SHOX_chrX_625791_656584	628728	CCTGTCTG others(15): Show CCTGTCTGTTTCTCTCTCTCTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18980.hp2 NA18979.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0168 a0001c0001t0114 a0001c0001t0168	a0001c0001t0114g0181 a0001c0001t0168g0174 a0001c0001t0114g0181 a0001c0001t0168g0174	2	220	0.0091	-22	c.-21 others(33): Show c.-2169_-2148delCTGTCTGTTTCTCTCTCTCTAT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		2062		chrX	TogoVar
SHOX_chrX_625791_656584	655602	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03486.hp2 HG03704.hp2 HG03453.hp2 HG03486.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0034 a0001c0001t0016 a0001c0001t0034	a0001c0001t0016g0069 a0001c0001t0016g0074 a0001c0001t0034g0038 a0001c0001t0016g0069 a0001c0001t0016g0074 a0001c0001t0034g0038	3	220	0.0136	-22	c.10 others(35): Show c.10967_*10988delTCTCTCTCTCTCTATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4019		chrX	TogoVar
SHOX_chrX_625791_656584	655604	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0162 a0001c0001t0162	a0001c0001t0162g0149 a0001c0001t0162g0149	1	220	0.0046	-22	c.10 others(35): Show c.10969_*10990delTCTCTCTCTCTATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4021		chrX	TogoVar
SHOX_chrX_625791_656584	655606	CTCTCTCT others(15): Show CTCTCTCTCTATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03927.hp2 HG03834.hp1 HG03927.hp2	a0000 a0001 a0000 a0001	a0000c0002 a0001c0001 a0000c0002 a0001c0001	a0000c0002t0041 a0001c0001t0119 a0000c0002t0041 a0001c0001t0119	a0000c0002t0041g0029 a0001c0001t0119g0180 a0000c0002t0041g0029 a0001c0001t0119g0180	2	220	0.0091	-22	c.10 others(35): Show c.10971_*10992delTCTCTCTCTATATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4023		chrX	TogoVar
SHOX_chrX_625791_656584	655608	CTCTCTCT others(15): Show CTCTCTCTATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01168.hp2 HG03453.hp1 others(1): Show HG01123.hp2 HG01168.hp2 HG03453.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0028 a0001c0001t0145 others(1): Show a0001c0001t0007 a0001c0001t0028 a0001c0001t0145 a0001c0001t0159	a0001c0001t0007g0070 a0001c0001t0028g0025 a0001c0001t0145g0001 others(1): Show a0001c0001t0007g0070 a0001c0001t0028g0025 a0001c0001t0145g0001 a0001c0001t0159g0172	4	220	0.0182	-22	c.10 others(35): Show c.10973_*10994delTCTCTCTATATATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4025		chrX	TogoVar
SHOX_chrX_625791_656584	655610	CTCTCTAT others(15): Show CTCTCTATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0100 a0001c0001t0102g0100	1	220	0.0046	-22	c.10 others(35): Show c.10975_*10996delTCTCTATATATATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4027		chrX	TogoVar
SHOX_chrX_625791_656584	655612	CTCTATAT others(15): Show CTCTATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 NA18946.hp1 NA19065.hp1 HG00639.hp2 NA18946.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0098 a0001c0001t0165 a0001c0001t0050 a0001c0001t0098 a0001c0001t0165	a0001c0001t0050g0110 a0001c0001t0098g0206 a0001c0001t0165g0019 a0001c0001t0050g0110 a0001c0001t0098g0206 a0001c0001t0165g0019	3	220	0.0136	-22	c.10 others(35): Show c.10977_*10998delTCTATATATATATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4029		chrX	TogoVar
SHQ1_chr3_72744277_72853445	72852092	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0206 a0002c0002t0008g0206	1	222	0.0045	-22	c.-37 others(33): Show c.-3774_-3753delTATATATAGAGAGAGAGAGAGA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding		3648		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72852094	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0022 a0002c0008t0001g0022	1	222	0.0045	-22	c.-37 others(33): Show c.-3776_-3755delTATATATATAGAGAGAGAGAGA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding		3650		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72852096	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	222	0.0045	-22	c.-37 others(33): Show c.-3778_-3757delTATATATATATAGAGAGAGAGA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding		3652		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72852100	CTCTCTCT others(15): Show CTCTCTCTATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	222	0.0045	-22	c.-37 others(33): Show c.-3782_-3761delTATATATATATATATAGAGAGA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding		3656		chr3	TogoVar
SHROOM2_chrX_9781429_9954443	9815434	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03654.hp1 HG03669.hp2 others(1): Show HG03490.hp1 HG03654.hp1 HG03669.hp2 HG04115.hp1	a0001 a0026 a0001 a0026	a0001c0003 a0001c0007 a0001c0034 others(1): Show a0001c0003 a0001c0007 a0001c0034 a0026c0049	a0001c0003t0001 a0001c0007t0001 a0001c0034t0001 others(1): Show a0001c0003t0001 a0001c0007t0001 a0001c0034t0001 a0026c0049t0001	a0001c0003t0001g0031 a0001c0007t0001g0049 a0001c0034t0001g0202 others(1): Show a0001c0003t0001g0031 a0001c0007t0001g0049 a0001c0034t0001g0202 a0026c0049t0001g0002	4	256	0.0156	-22	c.165 others(41): Show c.165+28750_165+28771delGTGTGTGTGTGTGTGTGTGTGT	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9912230	CACACACA others(15): Show CACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp1 HG01891.hp2 HG02970.hp1	a0002 a0003 a0002 a0003	a0002c0025 a0003c0009 a0002c0025 a0003c0009	a0002c0025t0008 a0003c0009t0004 a0002c0025t0008 a0003c0009t0004	a0002c0025t0008g0116 a0003c0009t0004g0247 a0002c0025t0008g0116 a0003c0009t0004g0247	2	256	0.0078	-22	c.289 others(43): Show c.2891+13942_2891+13963delCACACACACACACACACACATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76651401	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG06807.hp1 HG02615.hp2 HG06807.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0007 a0003c0003 a0008c0007	a0003c0003t0014 a0008c0007t0001 a0003c0003t0014 a0008c0007t0001	a0003c0003t0014g0187 a0008c0007t0001g0127 a0003c0003t0014g0187 a0008c0007t0001g0127	2	218	0.0092	-22	c.324 others(41): Show c.324-58731_324-58710delTATATATATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735856	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01255.hp1 HG01070.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0115 a0001c0001t0002g0093 a0001c0001t0002g0115	2	218	0.0092	-22	c.588 others(39): Show c.588-2903_588-2882delAAAAAAAAAAAATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar

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