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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Results per page.

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
GALNT13_chr2_153866922_154458979	154110318	TATATATA others(15): Show TATATATATATATATATATAGAG	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA19060.hp2 HG02738.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0101 a0001c0001t0005g0117 a0001c0001t0005g0101 a0001c0001t0005g0117	2	214	0.0094	-22	c.143 others(41): Show c.143-30017_143-29996delTATATATATATATATATAGAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110320	TATATATA others(15): Show TATATATATATATATATAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0110 a0001c0001t0006g0111	2	214	0.0094	-22	c.143 others(41): Show c.143-30015_143-29994delTATATATATATATATAGAGAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154130937	CAGATTGG others(15): Show CAGATTGGTGCTTTTGTTTCCAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG02280.hp1 others(6): Show HG00735.hp1 HG01099.hp1 HG02280.hp1 HG02486.hp1 HG02602.hp1 HG02615.hp1 NA18953.hp2 NA18975.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0023 others(2): Show a0001c0001t0003 a0001c0001t0015 a0001c0001t0023 a0001c0001t0027 a0001c0001t0045	a0001c0001t0003g0010 a0001c0001t0003g0028 a0001c0001t0003g0029 others(6): Show a0001c0001t0003g0010 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0015g0015 a0001c0001t0015g0016 a0001c0001t0023g0033 a0001c0001t0027g0009 a0001c0001t0027g0014 a0001c0001t0045g0211	9	214	0.0421	-22	c.143 others(39): Show c.143-9396_143-9375delTTGGTGCTTTTGTTTCCAAAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT14_chr2_30905467_31143440	31035600	TACACACA others(15): Show TACACACACACACACACCTACAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	226	0.0044	-22	c.130 others(41): Show c.130-42615_130-42594delGTGTAGGTGTGTGTGTGTGTGT	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar
GALNT15_chr3_16169680_16235165	16232494	ATATATAT others(15): Show ATATATATATATATATATTTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 NA19005.hp1 HG02015.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0001 a0001c0001t0004g0317 a0001c0001t0002g0001 a0001c0001t0004g0317	2	388	0.0052	-22	c.49 others(33): Show c.4995_*5016delTATATATATATATATATTTATT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2330		chr3	TogoVar
GALNT16_chr14_69255158_69359466	69322980	GTGCGCGC others(15): Show GTGCGCGCGCACGCGCGCACGCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp1 HG02683.hp1 others(3): Show HG02258.hp1 HG02572.hp1 HG02683.hp1 HG02717.hp1 HG02970.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0003t0022 a0002c0002t0011	a0001c0001t0002g0011 a0001c0001t0007g0276 a0001c0001t0010g0025 others(3): Show a0001c0001t0002g0011 a0001c0001t0007g0276 a0001c0001t0010g0025 a0001c0001t0010g0026 a0001c0003t0022g0066 a0002c0002t0011g0020	6	306	0.0196	-22	c.336 others(39): Show c.336-1708_336-1687delGCGCGCACGCGCGCACGCATGC	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT17_chr7_71127144_71718599	71329979	GTGTGTGT others(15): Show GTGTGTGTATATATATACATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp1 others(48): Show HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG02040.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG04228.hp2 NA18983.hp2 NA19000.hp2 NA19060.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0010 a0001c0002t0019 a0001c0003t0014 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0005t0008 a0001c0006t0005 a0001c0007t0020 a0001c0008t0003 a0002c0010t0003	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 others(48): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0004g0038 a0001c0001t0004g0048 a0001c0001t0005g0050 a0001c0001t0005g0052 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0006g0066 a0001c0001t0007g0059 a0001c0001t0008g0022 a0001c0001t0008g0026 a0001c0001t0009g0063 a0001c0001t0010g0072 a0001c0001t0011g0040 a0001c0001t0012g0008 a0001c0001t0012g0012 a0001c0001t0012g0014 a0001c0001t0017g0047 a0001c0001t0018g0016 a0001c0002t0002g0020 a0001c0002t0003g0004 a0001c0002t0007g0060 a0001c0002t0010g0074 a0001c0002t0019g0017 a0001c0003t0014g0068 a0001c0003t0014g0070 a0001c0004t0003g0013 a0001c0004t0004g0030 a0001c0004t0005g0058 a0001c0005t0008g0023 a0001c0006t0005g0053 a0001c0007t0020g0005 a0001c0008t0003g0007 a0002c0010t0003g0009	51	76	0.6711	-22	c.239 others(39): Show c.239-5556_239-5535delTACATATATGTGTGTATATATA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71571071	ACCAGTAC others(15): Show ACCAGTACATGCTAGGCTGGAAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00642.hp2 others(35): Show HG00323.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp2 HG02040.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp2 HG02896.hp2 HG03130.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG04228.hp1 NA18983.hp1 NA18983.hp2 NA19000.hp1 NA19000.hp2 NA19060.hp1 NA19060.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0019 a0001c0003t0014 a0001c0006t0005 a0001c0007t0020 a0001c0008t0003 a0001c0009t0010	a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 others(35): Show a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0002g0018 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0035 a0001c0001t0004g0038 a0001c0001t0004g0048 a0001c0001t0005g0054 a0001c0001t0007g0059 a0001c0001t0007g0062 a0001c0001t0008g0026 a0001c0001t0009g0063 a0001c0001t0009g0065 a0001c0001t0011g0036 a0001c0001t0011g0040 a0001c0001t0011g0049 a0001c0001t0012g0012 a0001c0001t0012g0014 a0001c0001t0013g0073 a0001c0001t0013g0075 a0001c0001t0015g0076 a0001c0001t0016g0043 a0001c0001t0017g0047 a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0007g0060 a0001c0002t0008g0025 a0001c0002t0019g0017 a0001c0003t0014g0068 a0001c0003t0014g0070 a0001c0006t0005g0053 a0001c0007t0020g0005 a0001c0008t0003g0007 a0001c0009t0010g0071	38	76	0.5000	-22	c.963 others(37): Show c.963-124_963-103delCAGTACATGCTAGGCTGGAACC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71701731	ATATATAT others(15): Show ATATATATATGTGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG01106.hp1 HG00438.hp2 HG00642.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012	a0001c0001t0006g0064 a0001c0001t0011g0040 a0001c0001t0012g0012 a0001c0001t0006g0064 a0001c0001t0011g0040 a0001c0001t0012g0012	3	76	0.0395	-22	c.150 others(41): Show c.1501-9006_1501-8985delATATATATGTGTATATATATGT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT18_chr11_11265877_11627005	11490219	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTAACACACA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(61): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01943.hp2 HG01981.hp1 HG02109.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18906.hp2 NA18941.hp2 NA18945.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0016 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0004t0006 a0001c0004t0009 a0001c0005t0001 a0001c0006t0002 a0001c0007t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0127 others(61): Show a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0127 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0226 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0033 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0019g0260 a0001c0002t0001g0121 a0001c0002t0001g0143 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0002g0019 a0001c0002t0002g0050 a0001c0002t0002g0080 a0001c0002t0002g0089 a0001c0002t0002g0092 a0001c0002t0003g0159 a0001c0002t0003g0183 a0001c0002t0003g0197 a0001c0002t0003g0202 a0001c0002t0004g0010 a0001c0002t0004g0048 a0001c0002t0004g0065 a0001c0002t0006g0148 a0001c0002t0008g0153 a0001c0002t0016g0099 a0001c0003t0001g0104 a0001c0003t0001g0150 a0001c0003t0001g0156 a0001c0003t0001g0223 a0001c0003t0001g0242 a0001c0003t0002g0036 a0001c0003t0002g0049 a0001c0003t0002g0073 a0001c0003t0005g0005 a0001c0004t0001g0105 a0001c0004t0001g0124 a0001c0004t0001g0184 a0001c0004t0003g0132 a0001c0004t0003g0151 a0001c0004t0003g0177 a0001c0004t0003g0190 a0001c0004t0004g0013 a0001c0004t0006g0131 a0001c0004t0006g0228 a0001c0004t0009g0002 a0001c0004t0009g0003 a0001c0005t0001g0145 a0001c0005t0001g0147 a0001c0006t0002g0027 a0001c0007t0001g0249	64	260	0.2462	-22	c.236 others(41): Show c.236-41305_236-41284delTGTGTGTTAGAGAGAGAGAGAG	GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding	1/10			chr11	TogoVar
GALNT1_chr18_35576740_35716834	35611015	AGACCCCT others(15): Show AGACCCCTTGAAAGGGTCTTGAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00609.hp1 others(44): Show HG00280.hp1 HG00408.hp1 HG00609.hp1 HG01074.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01346.hp2 HG01981.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03516.hp2 HG03669.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18961.hp2 NA18971.hp2 NA18986.hp2 NA18989.hp2 NA18991.hp2 NA18993.hp2 NA19001.hp2 NA19007.hp2 NA19012.hp2 NA19055.hp2 NA19066.hp1 NA19072.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0015 a0001c0001t0017 others(2): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0004t0001	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0011 others(40): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0015g0018 a0001c0001t0017g0044 a0001c0001t0018g0026 a0001c0004t0001g0129 a0001c0004t0001g0130	47	310	0.1516	-22	c.-10 others(43): Show c.-104+29164_-104+29185delAAGGGTCTTGATGACCCCTTGA	GALNT1	ENSG00000141429.14	transcript	ENST00000269195.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALNT2_chr1_230062238_230287122	230111246	TACTAATT others(15): Show TACTAATTTGTGCACACGTGCAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG00738.hp1 others(39): Show HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp2 HG01167.hp1 HG01169.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01981.hp1 HG02155.hp2 HG02559.hp1 HG02602.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03239.hp2 HG03453.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp1 NA18947.hp2 NA18948.hp2 NA18973.hp1 NA18979.hp1 NA18982.hp2 NA18986.hp2 NA19000.hp2 NA19003.hp2 NA19007.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0002c0004 a0002c0005 a0004c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0024 a0001c0001t0043 a0001c0001t0054 a0001c0001t0058 a0001c0001t0065 a0001c0002t0001 a0001c0002t0014 a0001c0003t0001 a0001c0008t0012 a0002c0004t0002 a0002c0005t0002 a0002c0005t0017 a0004c0013t0047	a0001c0001t0001g0265 a0001c0001t0001g0272 a0001c0001t0003g0082 others(39): Show a0001c0001t0001g0265 a0001c0001t0001g0272 a0001c0001t0003g0082 a0001c0001t0003g0141 a0001c0001t0003g0169 a0001c0001t0003g0175 a0001c0001t0004g0020 a0001c0001t0004g0114 a0001c0001t0004g0157 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0006g0073 a0001c0001t0008g0252 a0001c0001t0008g0253 a0001c0001t0009g0040 a0001c0001t0009g0103 a0001c0001t0010g0196 a0001c0001t0014g0048 a0001c0001t0014g0212 a0001c0001t0014g0247 a0001c0001t0024g0112 a0001c0001t0043g0045 a0001c0001t0054g0268 a0001c0001t0058g0158 a0001c0001t0065g0047 a0001c0002t0001g0060 a0001c0002t0001g0113 a0001c0002t0001g0230 a0001c0002t0014g0160 a0001c0003t0001g0079 a0001c0003t0001g0097 a0001c0003t0001g0111 a0001c0003t0001g0209 a0001c0008t0012g0257 a0002c0004t0002g0080 a0002c0004t0002g0081 a0002c0004t0002g0083 a0002c0004t0002g0159 a0002c0005t0002g0115 a0002c0005t0002g0218 a0002c0005t0017g0066 a0004c0013t0047g0006	42	324	0.1296	-22	c.126 others(41): Show c.126+43844_126+43865delAATTTGTGCACACGTGCACACT	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT7_chr4_173163811_173328967	173266868	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	266	0.0038	-22	c.587 others(41): Show c.587+18466_587+18487delTGTGTGTGTGTGTGTGTGTGTG	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172034395	CGTGCGTG others(15): Show CGTGCGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02451.hp2 others(4): Show HG01884.hp1 HG02145.hp2 HG02451.hp2 HG02630.hp1 HG02647.hp2 HG02965.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0002 a0001c0003t0005	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0036 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0002g0032 a0001c0001t0008g0010 a0001c0002t0002g0007 a0001c0003t0005g0004	7	40	0.1750	-22	c.139 others(43): Show c.139-195257_139-195236delCGTGTGTGTGTGTGTGTGTGTG	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172403524	TTCTTACG others(15): Show TTCTTACGGTTAGCCAAAAATTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03130.hp2 HG03579.hp2 HG01884.hp2 HG03130.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0009 a0001c0001t0004g0002 a0001c0001t0006g0020 a0001c0001t0002g0009 a0001c0001t0004g0002 a0001c0001t0006g0020	3	40	0.0750	-22	c.553 others(41): Show c.553+54841_553+54862delCGGTTAGCCAAAAATTGTCTTA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172405427	ATATATAT others(15): Show ATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03139.hp2 HG02451.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0002g0032 a0001c0001t0001g0017 a0001c0001t0002g0032	2	40	0.0500	-22	c.553 others(41): Show c.553+56740_553+56761delATATATATATATATATTTTTTT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172405429	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	40	0.0250	-22	c.553 others(41): Show c.553+56742_553+56763delATATATATATATATTTTTTTTT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172528319	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02735.hp2 others(1): Show HG02258.hp2 HG02451.hp2 HG02735.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0034 a0001c0001t0002g0026 a0001c0001t0002g0032 others(1): Show a0001c0001t0001g0034 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0035	4	40	0.1000	-22	c.553 others(43): Show c.553+179655_553+179676delATATATATATATATATATATAT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172759799	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02717.hp2 others(6): Show HG02258.hp2 HG02451.hp2 HG02717.hp2 HG02723.hp1 HG02965.hp1 HG03130.hp1 HG03139.hp2 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0003	a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0002g0003 others(6): Show a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0003g0018 a0001c0001t0009g0024 a0001c0002t0003g0001	9	40	0.2250	-22	c.554 others(41): Show c.554-49535_554-49514delTTTTTTTTTTTTTTTTTTTTTT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALT_chr9_34641675_34656035	34644300	ATTATATA others(15): Show ATTATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 NA18522.hp1 NA19240.hp2 others(1): Show HG03516.hp2 NA18522.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	4	416	0.0096	-22	c.-24 others(33): Show c.-2404_-2383delTTATATATATATATATATATAT	GALT	ENSG00000213930.12	transcript	ENST00000378842.8	protein_coding		2374		chr9	TogoVar
GAP43_chr3_115618510_115726483	115716711	CAGACAAA others(15): Show CAGACAAATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG06807.hp2 NA18995.hp2 others(1): Show HG02258.hp2 HG06807.hp2 NA18995.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0173 a0001c0001t0001g0197 a0001c0001t0002g0140 others(1): Show a0001c0001t0001g0173 a0001c0001t0001g0197 a0001c0001t0002g0140 a0001c0001t0002g0199	4	352	0.0114	-22	c.629 others(39): Show c.629-4081_629-4060delGACAAATATATATATATATATA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115716717	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0309 a0001c0001t0004g0309	1	352	0.0028	-22	c.629 others(39): Show c.629-4047_629-4026delTATATATATATATATATATATA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAPVD1_chr9_125256826_125372207	125300038	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	340	0.0029	-22	c.185 others(37): Show c.185+967_185+988delATATATATATATATATATATAT	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARIN2_chr14_67184440_67228940	67193294	CTATCTAT others(15): Show CTATCTATATATCTCTATATAGA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01433.hp2 HG03834.hp2 others(1): Show HG01070.hp2 HG01433.hp2 HG03834.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0085 a0001c0002t0001g0230 a0001c0001t0001g0019 a0001c0001t0001g0085 a0001c0002t0001g0230	4	332	0.0121	-22	c.-11 others(41): Show c.-114+3755_-114+3776delATATCTCTATATAGATATCTAT	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
GARIN5A_chr19_50461788_50481848	50471754	ATGTGTAT others(15): Show ATGTGTATACGCATACATACCTG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	414	0.0024	-22	c.539 others(39): Show c.539+3549_539+3570delCAGGTATGTATGCGTATACACA	GARIN5A	ENSG00000142530.11	transcript	ENST00000600100.6	protein_coding	3/4			chr19	TogoVar
GARIN6_chr12_99642753_99655114	99649808	TCTCTCTG others(15): Show TCTCTCTGCTACTCAAAGGCTGA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02559.hp1 others(6): Show HG02257.hp1 HG02280.hp2 HG02559.hp1 HG02723.hp1 HG02976.hp2 HG03225.hp1 HG03471.hp1 HG06807.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0001 a0002c0002t0008g0001	9	456	0.0197	-22	c.42 others(31): Show c.425_*446delAAGGCTGACTCTCTGCTACTCA	GARIN6	ENSG00000180219.2	transcript	ENST00000324341.2	protein_coding	2/2	425	INFO_REALIGN_3_PRIME	chr12	TogoVar
GARRE1_chr19_34249554_34360566	34290874	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01256.hp2 HG01361.hp1 others(10): Show HG01123.hp1 HG01256.hp2 HG01361.hp1 HG01978.hp2 HG01981.hp1 HG02071.hp1 HG02148.hp1 HG02258.hp2 HG02486.hp1 HG04204.hp2 NA18950.hp1 NA19009.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0011 others(2): Show a0001c0002t0002 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0002t0023	a0001c0002t0002g0006 a0001c0002t0002g0008 a0001c0002t0002g0009 others(10): Show a0001c0002t0002g0006 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0017 a0001c0002t0002g0039 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0062 a0001c0002t0010g0029 a0001c0002t0011g0005 a0001c0002t0011g0007 a0001c0002t0013g0020 a0001c0002t0023g0050	13	326	0.0399	-22	c.-79 others(41): Show c.-795-8776_-795-8755delTTTTTTTTTTTTTTTTTTTTTT	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GAS2_chr11_22661611_22818001	22685127	CTGCACTC others(15): Show CTGCACTCCAGATTGCGTGACAG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02818.hp1 HG02965.hp2 others(4): Show HG02145.hp1 HG02818.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03453.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 others(2): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0002c0003t0007 a0002c0003t0009	a0002c0003t0001g0104 a0002c0003t0001g0250 a0002c0003t0002g0102 others(4): Show a0002c0003t0001g0104 a0002c0003t0001g0250 a0002c0003t0002g0102 a0002c0003t0002g0266 a0002c0003t0006g0142 a0002c0003t0007g0229 a0002c0003t0009g0103	7	272	0.0257	-22	c.146 others(37): Show c.146-540_146-519delTGCACTCCAGATTGCGTGACAG	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	2/7			chr11	TogoVar
GAS2_chr11_22661611_22818001	22686553	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00597.hp2 others(79): Show HG00140.hp2 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG01081.hp2 HG01167.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02145.hp2 HG02148.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03579.hp2 HG03834.hp2 HG03927.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18946.hp1 NA18950.hp1 NA18953.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp2 NA18969.hp2 NA18970.hp1 NA18984.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19011.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19090.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(12): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0015 a0001c0002t0016 a0001c0004t0002	a0001c0001t0002g0038 a0001c0002t0001g0001 a0001c0002t0001g0023 others(78): Show a0001c0001t0002g0038 a0001c0002t0001g0001 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0029 a0001c0002t0001g0096 a0001c0002t0001g0114 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0148 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0220 a0001c0002t0001g0254 a0001c0002t0002g0005 a0001c0002t0002g0014 a0001c0002t0002g0028 a0001c0002t0002g0032 a0001c0002t0002g0088 a0001c0002t0002g0094 a0001c0002t0002g0150 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0244 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0031 a0001c0002t0003g0093 a0001c0002t0003g0121 a0001c0002t0003g0146 a0001c0002t0003g0151 a0001c0002t0003g0218 a0001c0002t0003g0221 a0001c0002t0003g0225 a0001c0002t0004g0013 a0001c0002t0004g0022 a0001c0002t0004g0092 a0001c0002t0004g0118 a0001c0002t0004g0119 a0001c0002t0004g0124 a0001c0002t0004g0125 a0001c0002t0004g0126 a0001c0002t0004g0219 a0001c0002t0004g0240 a0001c0002t0004g0242 a0001c0002t0005g0030 a0001c0002t0005g0098 a0001c0002t0005g0099 a0001c0002t0005g0110 a0001c0002t0005g0133 a0001c0002t0005g0147 a0001c0002t0005g0264 a0001c0002t0005g0265 a0001c0002t0006g0021 a0001c0002t0006g0100 a0001c0002t0006g0107 a0001c0002t0006g0108 a0001c0002t0006g0127 a0001c0002t0006g0228 a0001c0002t0007g0116 a0001c0002t0007g0117 a0001c0002t0007g0253 a0001c0002t0008g0090 a0001c0002t0008g0138 a0001c0002t0008g0139 a0001c0002t0009g0025 a0001c0002t0009g0241 a0001c0002t0009g0245 a0001c0002t0010g0268 a0001c0002t0012g0216 a0001c0002t0015g0140 a0001c0002t0016g0097 a0001c0004t0002g0111 a0001c0004t0002g0112 a0001c0004t0002g0113 a0001c0004t0002g0134	82	272	0.3015	-22	c.267 others(37): Show c.267+791_267+812delAAAAAAAAAAAAAAAAAAAAAA	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
GAS2_chr11_22661611_22818001	22815396	TCTTAATC others(15): Show TCTTAATCAGATTGGGGTAAAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0259 a0001c0002t0002g0259	1	272	0.0037	-22	c.33 others(33): Show c.3381_*3402delCTTAATCAGATTGGGGTAAAAC	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding		2396		chr11	TogoVar
GAS6_chr13_113815549_113869076	113836552	AGGTGAGG others(15): Show AGGTGAGGGAGGGGGTGGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03453.hp1 HG03540.hp2 others(1): Show HG02809.hp2 HG03453.hp1 HG03540.hp2 HG04204.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0010 a0001c0001 a0001c0002 a0004c0010	a0001c0001t0001 a0001c0002t0001 a0004c0010t0001 a0001c0001t0001 a0001c0002t0001 a0004c0010t0001	a0001c0001t0001g0130 a0001c0002t0001g0134 a0001c0002t0001g0138 others(1): Show a0001c0001t0001g0130 a0001c0002t0001g0134 a0001c0002t0001g0138 a0004c0010t0001g0133	4	143	0.0280	-22	c.590 others(37): Show c.590-939_590-918delCCTCCCCACCCCCTCCCTCACC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GATA6_chr18_22164589_22207528	22207481	TTCTTTTC others(15): Show TTCTTTTCACCCCTCTACCTCAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	286	0.0035	-22	c.66 others(33): Show c.6659_*6680delTCTTTTCACCCCTCTACCTCAG	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding		4954		chr18	TogoVar
GATAD2B_chr1_153799725_153927972	153859907	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0161 a0001c0001t0016g0161	1	349	0.0029	-22	c.-1- others(39): Show c.-1-31581_-1-31560delAAAAAAAAAAAAAAAAAAAAAA	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153927589	TTTTGTGT others(15): Show TTTTGTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0176 a0001c0001t0060g0176	1	349	0.0029	-22	c.-48 others(33): Show c.-4880_-4859delCACACACACACACACACACAAA	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding		4618		chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153927591	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 NA18906.hp1 HG00597.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0053 a0001c0001t0008g0279 a0001c0001t0004g0053 a0001c0001t0008g0279	2	349	0.0057	-22	c.-48 others(33): Show c.-4882_-4861delCACACACACACACACACACACA	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding		4620		chr1	TogoVar
GBE1_chr3_81484703_81766645	81702102	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0269 a0001c0001t0018g0269	1	304	0.0033	-22	c.313 others(39): Show c.313+3320_313+3341delACACACACACACACACACACAC	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	2/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81737355	ATATTTAT others(15): Show ATATTTATATATTTATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0259 a0001c0001t0016g0259	1	304	0.0033	-22	c.143 others(41): Show c.143+23998_143+24019delAATATATATAAATATATAAATA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GBF1_chr10_102240532_102387896	102335244	TGACTGGC others(15): Show TGACTGGCTCATCTTAGAACATG	T T	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18979.hp1 NA19002.hp2 others(1): Show NA18950.hp2 NA18979.hp1 NA19002.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 others(1): Show a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287	4	330	0.0121	-22	c.164 others(39): Show c.164-8803_164-8782delTGGCTCATCTTAGAACATGGAC	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
GCM1_chr6_53121961_53153841	53142000	GAAAAAAA others(15): Show GAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0308 a0001c0001t0016g0308	1	412	0.0024	-22	c.75+ others(37): Show c.75+3536_75+3557delTTTTTTTTTTTTTTTTTTTTTT	GCM1	ENSG00000137270.11	transcript	ENST00000259803.8	protein_coding	2/5			chr6	TogoVar
GCM2_chr6_10868223_10887041	10871865	GATATATA others(15): Show GATATATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01106.hp1 HG01255.hp1 others(26): Show HG01069.hp2 HG01106.hp1 HG01255.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02109.hp1 HG02145.hp1 HG02148.hp2 HG02258.hp1 HG02273.hp1 HG02572.hp1 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03041.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG04184.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0003c0006t0003 a0001c0001t0001 a0001c0001t0003 a0003c0006t0003	a0001c0001t0001g0090 a0001c0001t0001g0102 a0001c0001t0003g0011 others(9): Show a0001c0001t0001g0090 a0001c0001t0001g0102 a0001c0001t0003g0011 a0001c0001t0003g0016 a0001c0001t0003g0027 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0055 a0001c0001t0003g0063 a0003c0006t0003g0028 a0003c0006t0003g0056	29	426	0.0681	-22	c.21 others(33): Show c.2108_*2129delATATATATATATATATATATAT	GCM2	ENSG00000124827.7	transcript	ENST00000379491.5	protein_coding		1357		chr6	TogoVar
GCM2_chr6_10868223_10887041	10881554	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	426	0.0024	-22	c.90+ others(35): Show c.90+128_90+149delCACACACACACACACACACACA	GCM2	ENSG00000124827.7	transcript	ENST00000379491.5	protein_coding	1/4			chr6	TogoVar
GCNA_chrX_71573437_71618583	71574524	TCAAAACA others(15): Show TCAAAACATCCTAGGGTGTTTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	265	0.0038	-22	c.-40 others(33): Show c.-4000_-3979delCAAAACATCCTAGGGTGTTTTA	GCNA	ENSG00000147174.12	transcript	ENST00000373696.8	protein_coding		3912		chrX	TogoVar
GCNT1_chr9_76454182_76512416	76473401	TAAACTGG others(15): Show TAAACTGGAAATATGGATTTTCA	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	370	0.0027	-22	c.-29 others(43): Show c.-290+13225_-290+13246delAAACTGGAAATATGGATTTTCA	GCNT1	ENSG00000187210.14	transcript	ENST00000376730.5	protein_coding	2/3			chr9	TogoVar
GCNT1_chr9_76454182_76512416	76506266	AATCACAT others(15): Show AATCACATTCACAAATTAGAAGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0136 a0001c0001t0033g0136	1	370	0.0027	-22	c.25 others(33): Show c.2599_*2620delATCACATTCACAAATTAGAAGT	GCNT1	ENSG00000187210.14	transcript	ENST00000376730.5	protein_coding	4/4	2599		chr9	TogoVar
GCNT3_chr15_59606783_59627723	59610393	TCTCCCTC others(15): Show TCTCCCTCCTCCCTCCCTCCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG01891.hp1 others(25): Show HG00423.hp2 HG00438.hp2 HG01891.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02257.hp2 HG02280.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03942.hp1 HG04199.hp1 NA18948.hp1 NA18952.hp1 NA18957.hp2 NA18959.hp1 NA18971.hp1 NA18993.hp1 NA18995.hp2 NA19007.hp2 NA19057.hp2 NA19060.hp1 NA19065.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0010 a0001c0001 a0001c0002 a0009c0010	a0001c0001t0005 a0001c0001t0054 a0001c0001t0109 others(15): Show a0001c0001t0005 a0001c0001t0054 a0001c0001t0109 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0014 a0001c0002t0019 a0001c0002t0033 a0001c0002t0034 a0001c0002t0092 a0001c0002t0097 a0001c0002t0101 a0001c0002t0103 a0001c0002t0105 a0001c0002t0106 a0009c0010t0005	a0001c0001t0005g0002 a0001c0001t0005g0010 a0001c0001t0054g0110 others(19): Show a0001c0001t0005g0002 a0001c0001t0005g0010 a0001c0001t0054g0110 a0001c0001t0109g0116 a0001c0002t0005g0002 a0001c0002t0005g0007 a0001c0002t0005g0030 a0001c0002t0008g0002 a0001c0002t0009g0002 a0001c0002t0011g0007 a0001c0002t0014g0007 a0001c0002t0019g0007 a0001c0002t0033g0002 a0001c0002t0034g0112 a0001c0002t0034g0113 a0001c0002t0092g0115 a0001c0002t0097g0007 a0001c0002t0101g0007 a0001c0002t0103g0048 a0001c0002t0105g0111 a0001c0002t0106g0109 a0009c0010t0005g0002	28	428	0.0654	-22	c.-18 others(33): Show c.-1838_-1817delCTCCCTCCTCCCTCCCTCCTCC	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		1389		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59627245	GGTTTTGC others(15): Show GGTTTTGCCATGTTGCCCAGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	428	0.0023	-22	c.76 others(33): Show c.7691_*7712delGTTTTGCCATGTTGCCCAGGCT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		4523		chr15	TogoVar
GCNT4_chr5_75020346_75057558	75032872	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02895.hp2 others(4): Show HG02055.hp2 HG02559.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp2 HG03453.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0015 a0003c0003t0012 a0003c0003t0015	a0003c0003t0012g0100 a0003c0003t0012g0101 a0003c0003t0012g0102 others(4): Show a0003c0003t0012g0100 a0003c0003t0012g0101 a0003c0003t0012g0102 a0003c0003t0012g0151 a0003c0003t0012g0200 a0003c0003t0015g0152 a0003c0003t0015g0153	7	382	0.0183	-22	c.-1- others(37): Show c.-1-2856_-1-2835delACACACACACACACACACACAC	GCNT4	ENSG00000176928.7	transcript	ENST00000652361.2	protein_coding	3/3			chr5	TogoVar
GDE1_chr16_19496693_19527098	19512927	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	398	0.0025	-22	c.438 others(39): Show c.438-2005_438-1984delCACACACACACACACACACACA	GDE1	ENSG00000006007.12	transcript	ENST00000353258.8	protein_coding	2/5			chr16	TogoVar
GDI1_chrX_154432154_154448467	154444188	TCGCCGCC others(15): Show TCGCCGCCGCCGCCGCCCGCCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	283	0.0035	-22	c.15 others(33): Show c.1517_*1538delCGCCGCCGCCGCCGCCCGCCGC	GDI1	ENSG00000203879.12	transcript	ENST00000447750.7	protein_coding		722		chrX	TogoVar
GDPD1_chr17_59215511_59280970	59219059	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 NA18906.hp1 NA19240.hp2 HG03516.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0026 a0001c0001t0016 a0001c0001t0026	a0001c0001t0016g0254 a0001c0001t0016g0255 a0001c0001t0026g0257 a0001c0001t0016g0254 a0001c0001t0016g0255 a0001c0001t0026g0257	3	312	0.0096	-22	c.-15 others(33): Show c.-1550_-1529delTTTTTTTTTTTTTTTTTTTTTT	GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding		1451		chr17	TogoVar

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