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	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
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01361.hp2 HG02074.hp1 others(1): Show HG01192.hp2 HG01361.hp2 HG02074.hp1 HG03139.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0025 a0002c0002 a0009c0025	a0002c0002t0001 a0002c0002t0008 a0002c0002t0115 others(1): Show a0002c0002t0001 a0002c0002t0008 a0002c0002t0115 a0009c0025t0003	a0002c0002t0001g0057 a0002c0002t0008g0050 a0002c0002t0115g0180 others(1): Show a0002c0002t0001g0057 a0002c0002t0008g0050 a0002c0002t0115g0180 a0009c0025t0003g0260	4	298	0.0134	39	c.236 others(58): Show c.2365+2826_2365+2827insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21						chr2	TogoVar
AAK1_chr2_69452997_69648739	69638982	A A	AGTTTGCT others(32): Show AGTTTGCTGCCTTAAAGTGGAATGTACGGTGTATCATATT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0169 a0001c0003t0030g0169	1	298	0.0034	39	c.163 others(56): Show c.163+3895_163+3896insAATATGATACACCGTACATTCCACTTTA AGGCAGCAAAC		AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21						chr2	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGAG others(32): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0254 a0001c0001t0003g0254	1	362	0.0028	39	c.-41 others(58): Show c.-41-24969_-41-24968insAGAGAGAGAGAGAGAGAGAGAGAGAG GAGAGGGAGGGAG		ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA13_chr7_48166458_48652497	48411310	T T	TTTTCTTT others(32): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18942.hp2 HG00735.hp1 NA18942.hp2	a0004 a0007 a0004 a0007	a0004c0008 a0007c0101 a0004c0008 a0007c0101	a0004c0008t0001 a0007c0101t0003 a0004c0008t0001 a0007c0101t0003	a0004c0008t0001g0149 a0007c0101t0003g0139 a0004c0008t0001g0149 a0007c0101t0003g0139	2	178	0.0112	39	c.122 others(58): Show c.12228+650_12228+651insTCTTTTCTTTTCTTTTCTTTTCTTTC TTTTCTTTTCTTT		ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61					INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104862691	G G	GCCCCCCA others(32): Show GCCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0271 a0002c0017t0002g0271	1	318	0.0031	39	c.422 others(54): Show c.422-892_422-891insGGTGGGGGTGGGGGTGGGGGTGGGGGTGGG GGTGGGGGG		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49						chr9	TogoVar
ABCA7_chr19_1035107_1070572	1062917	C C	CCATACTC others(32): Show CCATACTCATGCTGGCTCCACCCACACCATGGCCCCGCCG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0002 a0006c0020t0002	a0006c0020t0002g0020 a0006c0020t0002g0020	1	30	0.0333	39	c.571 others(56): Show c.5713-589_5713-588insGCATACTCATGCTGGCTCCACCCACACC ATGGCCCCGCC		ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	42/46					INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1063009	G G	GCTCCACC others(32): Show GCTCCACCCACACCATGGCCCCGCCCCATACTCATGCTGC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19066.hp1 NA18983.hp2 NA19066.hp1	a0008 a0016 a0008 a0016	a0008c0006 a0016c0014 a0008c0006 a0016c0014	a0008c0006t0002 a0016c0014t0002 a0008c0006t0002 a0016c0014t0002	a0008c0006t0002g0006 a0016c0014t0002g0025 a0008c0006t0002g0006 a0016c0014t0002g0025	2	30	0.0667	39	c.571 others(56): Show c.5713-514_5713-513insGCCCCATACTCATGCTGCCTCCACCCAC ACCATGGCCCC		ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	42/46					INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1063009	G G	GCTCCACC others(32): Show GCTCCACCCACACCATGGCCCCGCCCCATACTCATGTTGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 HG02970.hp1 HG02145.hp2 HG02723.hp2 HG02970.hp1	a0003 a0011 a0003 a0011	a0003c0005 a0011c0008 a0003c0005 a0011c0008	a0003c0005t0002 a0011c0008t0002 a0003c0005t0002 a0011c0008t0002	a0003c0005t0002g0002 a0003c0005t0002g0003 a0011c0008t0002g0014 a0003c0005t0002g0002 a0003c0005t0002g0003 a0011c0008t0002g0014	3	30	0.1000	39	c.571 others(56): Show c.5713-514_5713-513insGCCCCATACTCATGTTGCCTCCACCCAC ACCATGGCCCC		ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	42/46					INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCB8_chr7_151023450_151052782	151043672	A A	AGGGTCAG others(32): Show AGGGTCAGAGGCAGGACGAGGGTGCACAGTGCGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0081 a0002c0003t0004g0081	1	400	0.0025	39	c.176 others(56): Show c.1766-283_1766-245dupCGAGGGTGCACAGTGCGGGGTGGGGGGT CAGAGGCAGGA		ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCC2_chr10_99777640_99857594	99778449	C C	CAGAGAGA others(32): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	336	0.0030	39	c.-43 others(50): Show c.-4396_-4395insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAGA GAGAG		ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding					4190		chr10	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03516.hp1 HG01261.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0158 a0001c0002t0002g0207 a0001c0002t0002g0158 a0001c0002t0002g0207	2	316	0.0063	39	c.422 others(54): Show c.422+943_422+944insAAAAAAAAATATATATATATATATATATAT ATATATATA		ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12						chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0160	1	316	0.0032	39	c.422 others(54): Show c.422+943_422+944insAAAAAAAAAAATATATATATATATATATAT ATATATATA		ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12						chr20	TogoVar
ABI3BP_chr3_100744156_100998421	100749259	G G	GTGAGTGA others(32): Show GTGAGTGATTTTCCTTCTCAGATAAAAGGTATAGTTGATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(138): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02132.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18977.hp1 NA18977.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19009.hp1 NA19030.hp2 NA19054.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0016 a0021 a0024 a0025 a0027 a0028 a0029 a0030	a0001c0001 a0001c0004 a0001c0005 others(37): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0001c0013 a0001c0017 a0001c0022 a0001c0024 a0001c0028 a0001c0035 a0001c0048 a0001c0059 a0002c0002 a0002c0006 a0002c0008 a0002c0010 a0002c0012 a0002c0019 a0003c0020 a0003c0026 a0003c0027 a0003c0050 a0004c0007 a0004c0015 a0004c0049 a0006c0018 a0006c0025 a0007c0014 a0008c0016 a0009c0023 a0009c0030 a0010c0061 a0016c0043 a0021c0034 a0024c0057 a0025c0031 a0027c0040 a0028c0063 a0029c0053 a0030c0052	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0001t0018 a0001c0001t0040 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0004 a0001c0005t0016 a0001c0009t0001 a0001c0009t0004 a0001c0009t0019 a0001c0013t0002 a0001c0017t0033 a0001c0022t0001 a0001c0024t0001 a0001c0028t0037 a0001c0035t0002 a0001c0048t0001 a0001c0059t0002 a0002c0002t0002 a0002c0002t0008 a0002c0002t0014 a0002c0002t0027 a0002c0006t0001 a0002c0006t0004 a0002c0008t0001 a0002c0008t0004 a0002c0008t0019 a0002c0008t0032 a0002c0010t0002 a0002c0012t0001 a0002c0019t0002 a0003c0020t0004 a0003c0026t0001 a0003c0027t0002 a0003c0050t0002 a0004c0007t0001 a0004c0007t0004 a0004c0007t0038 a0004c0015t0001 a0004c0049t0001 a0006c0018t0004 a0006c0018t0039 a0006c0025t0001 a0006c0025t0035 a0007c0014t0002 a0007c0014t0016 a0007c0014t0020 a0008c0016t0013 a0009c0023t0002 a0009c0023t0017 a0009c0030t0017 a0010c0061t0016 a0016c0043t0004 a0021c0034t0030 a0024c0057t0002 a0025c0031t0020 a0027c0040t0029 a0028c0063t0001 a0029c0053t0002 a0030c0052t0001	a0001c0001t0001g0137 a0001c0001t0002g0038 a0001c0001t0002g0066 others(138): Show a0001c0001t0001g0137 a0001c0001t0002g0038 a0001c0001t0002g0066 a0001c0001t0002g0072 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0093 a0001c0001t0002g0164 a0001c0001t0004g0177 a0001c0001t0008g0186 a0001c0001t0008g0194 a0001c0001t0008g0196 a0001c0001t0008g0198 a0001c0001t0008g0201 a0001c0001t0008g0208 a0001c0001t0008g0211 a0001c0001t0008g0233 a0001c0001t0014g0188 a0001c0001t0014g0215 a0001c0001t0018g0047 a0001c0001t0018g0082 a0001c0001t0040g0221 a0001c0004t0001g0004 a0001c0004t0002g0021 a0001c0004t0002g0024 a0001c0004t0002g0025 a0001c0004t0002g0027 a0001c0004t0002g0028 a0001c0004t0002g0030 a0001c0004t0002g0031 a0001c0004t0002g0042 a0001c0005t0001g0058 a0001c0005t0001g0062 a0001c0005t0001g0084 a0001c0005t0001g0147 a0001c0005t0001g0148 a0001c0005t0004g0175 a0001c0005t0004g0185 a0001c0005t0004g0193 a0001c0005t0004g0195 a0001c0005t0004g0199 a0001c0005t0004g0206 a0001c0005t0016g0229 a0001c0009t0001g0076 a0001c0009t0001g0086 a0001c0009t0001g0097 a0001c0009t0001g0124 a0001c0009t0001g0136 a0001c0009t0004g0232 a0001c0009t0019g0054 a0001c0013t0002g0116 a0001c0013t0002g0122 a0001c0017t0033g0091 a0001c0022t0001g0019 a0001c0022t0001g0125 a0001c0024t0001g0040 a0001c0024t0001g0041 a0001c0028t0037g0192 a0001c0035t0002g0161 a0001c0048t0001g0119 a0001c0059t0002g0029 a0002c0002t0002g0053 a0002c0002t0002g0061 a0002c0002t0002g0064 a0002c0002t0002g0087 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0109 a0002c0002t0008g0197 a0002c0002t0008g0228 a0002c0002t0014g0178 a0002c0002t0027g0055 a0002c0006t0001g0003 a0002c0006t0001g0081 a0002c0006t0001g0100 a0002c0006t0001g0103 a0002c0006t0001g0163 a0002c0006t0004g0209 a0002c0006t0004g0230 a0002c0006t0004g0231 a0002c0006t0004g0235 a0002c0008t0001g0056 a0002c0008t0001g0059 a0002c0008t0001g0071 a0002c0008t0001g0095 a0002c0008t0001g0098 a0002c0008t0004g0207 a0002c0008t0019g0144 a0002c0008t0032g0060 a0002c0010t0002g0067 a0002c0010t0002g0101 a0002c0010t0002g0102 a0002c0010t0002g0107 a0002c0010t0002g0165 a0002c0012t0001g0001 a0002c0012t0001g0135 a0002c0012t0001g0159 a0002c0019t0002g0131 a0003c0020t0004g0179 a0003c0020t0004g0212 a0003c0026t0001g0026 a0003c0026t0001g0128 a0003c0027t0002g0009 a0003c0027t0002g0022 a0003c0050t0002g0121 a0004c0007t0001g0073 a0004c0007t0001g0089 a0004c0007t0001g0094 a0004c0007t0001g0108 a0004c0007t0001g0113 a0004c0007t0004g0182 a0004c0007t0004g0238 a0004c0007t0038g0236 a0004c0015t0001g0037 a0004c0015t0001g0043 a0004c0015t0001g0123 a0004c0015t0001g0126 a0004c0049t0001g0120 a0006c0018t0004g0213 a0006c0018t0004g0223 a0006c0018t0039g0200 a0006c0025t0001g0127 a0006c0025t0035g0190 a0007c0014t0002g0034 a0007c0014t0016g0167 a0007c0014t0020g0033 a0008c0016t0013g0013 a0008c0016t0013g0014 a0008c0016t0013g0152 a0009c0023t0002g0006 a0009c0023t0017g0005 a0009c0030t0017g0153 a0010c0061t0016g0226 a0016c0043t0004g0205 a0021c0034t0030g0044 a0024c0057t0002g0130 a0025c0031t0020g0045 a0027c0040t0029g0090 a0028c0063t0001g0020 a0029c0053t0002g0011 a0030c0052t0001g0035	141	238	0.5924	39	c.12 others(50): Show c.1235_*1236insAATCAACTATACCTTTTATCTGAGAAGGAAAATC ACTCA		ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	68/68				1235		chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100749273	C C	CAGATAGA others(32): Show CAGATAGATAAAAGGTATAGTTGATTTGATTTTCCTTCTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG01891.hp1 others(16): Show HG00280.hp2 HG00735.hp2 HG01891.hp1 HG02109.hp2 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp1 NA19240.hp1	a0001 a0002 a0005 others(7): Show a0001 a0002 a0005 a0007 a0010 a0012 a0014 a0017 a0018 a0026	a0001c0001 a0001c0004 a0001c0056 others(9): Show a0001c0001 a0001c0004 a0001c0056 a0002c0002 a0005c0011 a0007c0014 a0010c0039 a0012c0051 a0014c0047 a0017c0036 a0018c0038 a0026c0060	a0001c0001t0009 a0001c0001t0010 a0001c0001t0024 others(13): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0024 a0001c0004t0009 a0001c0004t0010 a0001c0056t0025 a0002c0002t0010 a0005c0011t0012 a0005c0011t0022 a0007c0014t0009 a0010c0039t0012 a0012c0051t0010 a0014c0047t0010 a0017c0036t0009 a0018c0038t0012 a0026c0060t0023	a0001c0001t0009g0219 a0001c0001t0009g0224 a0001c0001t0010g0002 others(16): Show a0001c0001t0009g0219 a0001c0001t0009g0224 a0001c0001t0010g0002 a0001c0001t0024g0160 a0001c0004t0009g0191 a0001c0004t0009g0218 a0001c0004t0010g0012 a0001c0056t0025g0132 a0002c0002t0010g0142 a0005c0011t0012g0139 a0005c0011t0022g0171 a0005c0011t0022g0173 a0007c0014t0009g0204 a0010c0039t0012g0151 a0012c0051t0010g0018 a0014c0047t0010g0133 a0017c0036t0009g0189 a0018c0038t0012g0158 a0026c0060t0023g0039	19	238	0.0798	39	c.12 others(50): Show c.1221_*1222insTAGAAGGAAAATCAAATCAACTATACCTTTTATC TATCT		ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	68/68				1221		chr3	TogoVar
ABLIM2_chr4_7960327_8163813	8091618	T T	TTTATATA others(32): Show TTTATATAAAATTATATATATAATTTTATATAATTATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01433.hp1 HG01884.hp2 others(10): Show HG01167.hp1 HG01433.hp1 HG01884.hp2 HG02280.hp2 HG02486.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0002t0003 a0001c0002t0004 a0001c0004t0002	a0001c0001t0002g0024 a0001c0001t0002g0057 a0001c0001t0002g0230 others(10): Show a0001c0001t0002g0024 a0001c0001t0002g0057 a0001c0001t0002g0230 a0001c0001t0006g0216 a0001c0001t0009g0235 a0001c0001t0010g0005 a0001c0001t0010g0127 a0001c0001t0010g0215 a0001c0001t0012g0253 a0001c0002t0003g0031 a0001c0002t0004g0007 a0001c0002t0004g0239 a0001c0004t0002g0040	13	322	0.0404	39	c.339 others(56): Show c.339-3335_339-3334insTATATAATTATATAAAATTATATATATA ATTTTATATAA		ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	3/20						chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8094949	C C	CCTTCCTT others(32): Show CCTTCCTTTCCCTCCCTCCTTCCCTCCCTTTCTTCCTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0038 a0001c0001t0014g0038	1	322	0.0031	39	c.338 others(56): Show c.338+2149_338+2150insAAAAGGAAGAAAGGGAGGGAAGGAGGGA GGGAAAGGAAG		ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	3/20						chr4	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTTTATAT others(32): Show TTTTATATATATATATATTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp2 HG01255.hp1 others(3): Show HG00544.hp2 HG00642.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0002t0001 a0001c0003t0006 a0001c0001t0004 a0001c0002t0001 a0001c0003t0006	a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0162 others(3): Show a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0168 a0001c0002t0001g0151 a0001c0003t0006g0134	6	299	0.0201	39	c.38+ others(56): Show c.38+15957_38+15958insTATATATATATATATATATATAATATAT ATATATATAAA		ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55						chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTTTATAT others(32): Show TTTTATATATATATATTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	299	0.0033	39	c.38+ others(56): Show c.38+15957_38+15958insTATATATATATATATATATATATAATAT ATATATATAAA		ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55						chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288262	T T	TCCCCGCT others(32): Show TCCCCGCTCCATTCCCGGTGTCTCTGCTCCGTCCCGTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0167 a0001c0001t0012g0167	1	295	0.0034	39	c.53 others(50): Show c.5301_*5302insGACACGGGACGGAGCAGAGACACCGGGAATGGAG CGGGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					4128		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288733	T T	TCCGTCCC others(32): Show TCCGTCCCGTGTCTCTGCCCCGTCCCCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	295	0.0034	39	c.48 others(50): Show c.4830_*4831insGGCAGAGACACGGGGGGACGGGGCAGAGACACGG GACGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3657		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288917	T T	TCCGTCCC others(32): Show TCCGTCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	295	0.0034	39	c.46 others(50): Show c.4646_*4647insGGCAGAGACACGGGGGACGGGGCAGAGACACGGG GACGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3473		chr1	TogoVar
ACCS_chr11_44061270_44089237	44074772	C C	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0081 a0002c0004t0001g0081	1	438	0.0023	39	c.489 others(52): Show c.489+94_489+95insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTTT		ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr11	TogoVar
ACOT7_chr1_6259272_6398767	6260010	C C	CGCCCACT others(32): Show CGCCCACTGCAGGGCCAACTGCAGGTGCAACTAGCCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	240	0.0042	39	c.45 others(50): Show c.4586_*4587insCCCAGGCTAGTTGCACCTGCAGTTGGCCCTGCAG TGGGC		ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding					4261		chr1	TogoVar
ACP3_chr3_132312407_132363841	132325595	A A	ACACACAC others(32): Show ACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0176 a0001c0002t0004g0176	1	368	0.0027	39	c.121 others(56): Show c.121-2672_121-2671insCACACACACACACACACACACACACACA CACACACACAC		ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	1/9						chr3	TogoVar
ACP5_chr19_11569660_11582645	11576760	G G	GCCAAGGT others(32): Show GCCAAGGTGGTATCATCTGCTCATTCCATCTCATCAATGT	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG03704.hp2 HG03704.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0002 a0008c0013t0002	a0008c0013t0002g0049 a0008c0013t0002g0049	1	444	0.0023	39	c.344 others(46): Show c.344_345insACATTGATGAGATGGAATGAGCAGATGATACCACCTTG G	p.Gly others(52): Show p.Gly115_Asn116insHisTerTerAspGlyMetSerArgTerTyrHi sLeuGly	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	3/5	397/1381	344/978	115/325			chr19	TogoVar
ACSL5_chr10_112369116_112433376	112423217	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	364	0.0028	39	c.159 others(56): Show c.1593+776_1593+777insTATATATATATATATATATATATATATA TATATATATAT		ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20						chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAAAATAT others(32): Show AAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	364	0.0028	39	c.159 others(56): Show c.1593+781_1593+782insAAATATATATATATATATATATATATAT ATATATATATA		ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAATATAT others(32): Show AAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01943.hp2 NA18944.hp1 HG01175.hp1 HG01943.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0229 a0001c0001t0001g0359 a0001c0001t0001g0187 a0001c0001t0001g0229 a0001c0001t0001g0359	3	364	0.0082	39	c.159 others(56): Show c.1593+781_1593+782insATATATATATATATATATATATATATAT ATATATATATA		ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ACTA2_chr10_88930074_88957773	88932032	G G	GATGATGA others(32): Show GATGATGATGATGATGATGATGATGATGATGATGATGATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01069.hp1 HG01123.hp1 others(2): Show HG00280.hp2 HG01069.hp1 HG01123.hp1 HG01255.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0063 a0001c0001t0001g0108 a0001c0001t0001g0011 a0001c0001t0001g0063 a0001c0001t0001g0108	5	402	0.0124	39	c.31 others(50): Show c.3190_*3191insAATCATCATCATCATCATCATCATCATCATCATC ATCAT		ACTA2	ENSG00000107796.13	transcript	ENST00000224784.10	protein_coding					3041		chr10	TogoVar
ACTR1A_chr10_102474229_102507712	102504879	G G	GTCTCCTT others(32): Show GTCTCCTTTTGATACCTTCCCGATTAGCTCAGACGTCGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	388	0.0026	39	c.-22 others(50): Show c.-2271_-2233dupTACGACGTCTGAGCTAATCGGGAAGGTATCAAAA GGAGA		ACTR1A	ENSG00000138107.13	transcript	ENST00000369905.9	protein_coding					2168		chr10	TogoVar
ACVR2A_chr2_147840029_147935822	147844400	G G	GGCCGCCG others(32): Show GGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0096	1	338	0.0030	39	c.-75 others(48): Show c.-753_-752insGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC GCC		ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding					628		chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147935199	G G	GGTTGAAG others(32): Show GGTTGAAGTGAGCTCTTCAAATAGACCATTATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0265	1	338	0.0030	39	c.79 others(50): Show c.7925_*7926insGTTGAAGTGAGCTCTTCAAATAGACCATTATATA TATAA		ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding					4378		chr2	TogoVar
ADA2_chr22_17173790_17224435	17184983	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0203 a0001c0005t0002g0203	1	408	0.0025	39	c.108 others(58): Show c.1082-2223_1082-2222insATATATATATATATATATATATATAT ATATATATATATA		ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9						chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0169 a0001c0001t0025g0169	1	408	0.0025	39	c.973 others(54): Show c.973-422_973-421insATATATATATATATTTTTTTTTTTTTTTTT TTTTTTTTT		ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9						chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0033 a0002c0006t0033	a0002c0006t0033g0247 a0002c0006t0033g0247	1	408	0.0025	39	c.973 others(54): Show c.973-422_973-421insATATATATATATATATATTTTTTTTTTTTT TTTTTTTTT		ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9						chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(32): Show AAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0365 a0001c0003t0008g0365	1	408	0.0025	39	c.973 others(54): Show c.973-422_973-421insATATATATATATATATATATATATATATAT TTTTTTTTT		ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9						chr22	TogoVar
ADAM17_chr2_9483486_9560830	9520964	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	234	0.0043	39	c.957 others(54): Show c.957+238_957+239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	8/18						chr2	TogoVar
ADAM18_chr8_39579568_39735065	39701117	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0245 a0005c0011t0001g0245	1	347	0.0029	39	c.190 others(58): Show c.1903-5641_1903-5640insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA		ADAM18	ENSG00000168619.16	transcript	ENST00000265707.10	protein_coding	17/19					INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0144 a0001c0001t0011g0144	1	230	0.0044	39	c.324 others(58): Show c.324-36161_324-36160insAAAAAAAAAAAAAAATATATATATAT ATATATATATATA		ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31					INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0005 a0001c0014t0005	a0001c0014t0005g0145 a0001c0014t0005g0145	1	230	0.0044	39	c.324 others(58): Show c.324-36161_324-36160insAAAAAAAAAAATATATATATATATAT ATATATATATATA		ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31					INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM8_chr10_133257423_133281868	133265181	C C	CGCCTGTT others(32): Show CGCCTGTTCCTGCTGCAGCCTCTGCCCCATCTACCTCCAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02293.hp2 HG03195.hp1 others(2): Show HG02109.hp2 HG02293.hp2 HG03195.hp1 NA18975.hp2 NA19012.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0002 a0001c0001t0001 a0004c0005t0002	a0001c0001t0001g0026 a0001c0001t0001g0073 a0004c0005t0002g0037 a0001c0001t0001g0026 a0001c0001t0001g0073 a0004c0005t0002g0037	5	386	0.0130	39	c.232 others(58): Show c.2320-1417_2320-1416insATGGAGGTAGATGGGGCAGAGGCTGC AGCAGGAACAGGC		ADAM8	ENSG00000151651.16	transcript	ENST00000445355.8	protein_coding	21/22						chr10	TogoVar
ADAMTS17_chr15_99966437_100346975	100200818	G G	GCTGCACC others(32): Show GCTGCACCTGCTCTCCCCCATGGGCTGTCCCTCTGTCGAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0001 a0007c0023t0001	a0007c0023t0001g0206 a0007c0023t0001g0206	1	228	0.0044	39	c.107 others(58): Show c.1076-1434_1076-1396dupTTCGACAGAGGGACAGCCCATGGGGG AGAGCAGGTGCAG		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	7/21						chr15	TogoVar
ADAMTS19_chr5_129455298_129743683	129715375	C C	CTAGAAGA others(32): Show CTAGAAGAGGTAAGATAGCTCAGTATATCTGGTTTGAATT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	226	0.0044	39	c.331 others(60): Show c.3312+10985_3312+11023dupTAGAAGAGGTAAGATAGCTCAGTA TATCTGGTTTGAATT		ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	21/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	306	0.0033	39	c.161 others(58): Show c.1614+1906_1614+1907insAAAAAAATATATATATATATATATAT ATATATATATATA		ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38						chr12	TogoVar
ADAMTS2_chr5_179105853_179350461	179135130	T T	TCCAGCTC others(32): Show TCCAGCTCCCGGCTCCAGCTCCCAGCTCCCGGCTCCAGCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02451.hp1 HG02886.hp1 others(4): Show HG02129.hp2 HG02451.hp1 HG02886.hp1 HG03540.hp1 HG03654.hp2 NA19005.hp2 NA19066.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0014 a0001c0075 a0002c0007 others(3): Show a0001c0014 a0001c0075 a0002c0007 a0002c0030 a0003c0096 a0004c0016	a0001c0014t0008 a0001c0075t0020 a0002c0007t0002 others(3): Show a0001c0014t0008 a0001c0075t0020 a0002c0007t0002 a0002c0030t0008 a0003c0096t0002 a0004c0016t0002	a0001c0014t0008g0065 a0001c0075t0020g0074 a0002c0007t0002g0013 others(4): Show a0001c0014t0008g0065 a0001c0075t0020g0074 a0002c0007t0002g0013 a0002c0007t0002g0031 a0002c0030t0008g0121 a0003c0096t0002g0248 a0004c0016t0002g0259	7	276	0.0254	39	c.208 others(56): Show c.2085+778_2085+779insGGCTGGAGCCGGGAGCTGGGAGCTGGAG CCGGGAGCTGG		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	13/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179208144	C C	CCCTTGCC others(32): Show CCCTTGCCCGCACTGCCTGACGCTGGAGTGGGCAGAGCCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(66): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01192.hp2 HG01346.hp1 HG01346.hp2 HG01978.hp1 HG02004.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02165.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG02970.hp1 HG03139.hp1 HG03225.hp2 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 NA18612.hp2 NA18945.hp2 NA18947.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19070.hp2 NA19084.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0013 a0016 a0017 a0021 a0022 a0023 a0024 a0025 a0026 a0031 a0032 a0034	a0001c0001 a0001c0004 a0001c0014 others(40): Show a0001c0001 a0001c0004 a0001c0014 a0001c0034 a0001c0051 a0001c0064 a0001c0072 a0001c0075 a0002c0002 a0002c0007 a0002c0008 a0002c0012 a0002c0023 a0002c0057 a0002c0059 a0002c0063 a0003c0003 a0004c0006 a0004c0016 a0004c0103 a0005c0013 a0005c0015 a0005c0077 a0006c0009 a0006c0011 a0006c0061 a0007c0005 a0009c0021 a0010c0078 a0010c0079 a0011c0020 a0013c0080 a0016c0025 a0017c0027 a0021c0088 a0022c0089 a0023c0090 a0024c0092 a0025c0091 a0026c0093 a0031c0082 a0032c0045 a0034c0066	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(50): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0004t0002 a0001c0014t0013 a0001c0034t0002 a0001c0051t0001 a0001c0064t0001 a0001c0072t0002 a0001c0075t0020 a0002c0002t0001 a0002c0002t0022 a0002c0007t0002 a0002c0008t0001 a0002c0008t0023 a0002c0012t0001 a0002c0023t0002 a0002c0057t0004 a0002c0059t0001 a0002c0063t0004 a0003c0003t0001 a0003c0003t0004 a0004c0006t0001 a0004c0016t0002 a0004c0016t0015 a0004c0103t0002 a0005c0013t0010 a0005c0015t0003 a0005c0015t0005 a0005c0077t0017 a0006c0009t0005 a0006c0011t0003 a0006c0061t0003 a0007c0005t0003 a0007c0005t0009 a0009c0021t0003 a0009c0021t0009 a0009c0021t0018 a0010c0078t0001 a0010c0079t0011 a0011c0020t0003 a0013c0080t0012 a0016c0025t0001 a0017c0027t0004 a0021c0088t0003 a0022c0089t0006 a0023c0090t0016 a0024c0092t0004 a0025c0091t0002 a0026c0093t0001 a0031c0082t0002 a0032c0045t0003 a0034c0066t0004	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0004g0033 others(66): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0004g0033 a0001c0004t0001g0190 a0001c0004t0002g0005 a0001c0004t0002g0162 a0001c0004t0002g0163 a0001c0004t0002g0179 a0001c0014t0013g0112 a0001c0034t0002g0134 a0001c0051t0001g0182 a0001c0064t0001g0057 a0001c0072t0002g0108 a0001c0075t0020g0074 a0002c0002t0001g0015 a0002c0002t0001g0030 a0002c0002t0001g0085 a0002c0002t0001g0113 a0002c0002t0001g0129 a0002c0002t0022g0136 a0002c0007t0002g0097 a0002c0008t0001g0166 a0002c0008t0001g0183 a0002c0008t0001g0186 a0002c0008t0023g0188 a0002c0012t0001g0060 a0002c0023t0002g0151 a0002c0057t0004g0032 a0002c0059t0001g0002 a0002c0063t0004g0058 a0003c0003t0001g0244 a0003c0003t0004g0240 a0004c0006t0001g0236 a0004c0006t0001g0265 a0004c0016t0002g0220 a0004c0016t0015g0252 a0004c0103t0002g0235 a0005c0013t0010g0075 a0005c0013t0010g0077 a0005c0015t0003g0072 a0005c0015t0005g0076 a0005c0077t0017g0135 a0006c0009t0005g0043 a0006c0011t0003g0185 a0006c0061t0003g0039 a0007c0005t0003g0247 a0007c0005t0003g0264 a0007c0005t0003g0273 a0007c0005t0009g0242 a0009c0021t0003g0016 a0009c0021t0009g0093 a0009c0021t0018g0116 a0010c0078t0001g0017 a0010c0079t0011g0018 a0011c0020t0003g0047 a0011c0020t0003g0096 a0013c0080t0012g0192 a0016c0025t0001g0101 a0016c0025t0001g0127 a0017c0027t0004g0098 a0021c0088t0003g0214 a0022c0089t0006g0217 a0023c0090t0016g0215 a0024c0092t0004g0216 a0025c0091t0002g0218 a0026c0093t0001g0271 a0031c0082t0002g0197 a0032c0045t0003g0171 a0034c0066t0004g0099	69	276	0.2500	39	c.689 others(54): Show c.689-430_689-429insTGGCTCTGCCCACTCCAGCGTCAGGCAGTG CGGGCAAGG		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179217816	C C	CTAGGGGA others(32): Show CTAGGGGATGGCCTGAGGGCAGACAGGCACACTCACTAGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0131 a0001c0014t0002g0131	1	276	0.0036	39	c.689 others(58): Show c.689-10140_689-10102dupCCTAGTGAGTGTGCCTGTCTGCCCTC AGGCCATCCCCTA		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179217878	C C	CGGCACAC others(32): Show CGGCACACTCACTAGGTAGGGGATGGCCTGAGGGCAGACA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0144 a0001c0004t0004g0144	1	276	0.0036	39	c.689 others(58): Show c.689-10164_689-10163insTGTCTGCCCTCAGGCCATCCCCTACC TAGTGAGTGTGCC		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21						chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72399821	A A	ACGCATAT others(32): Show ACGCATATGTGTGTATATATATACACACACGGTGTGTACG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG01258.hp1 others(7): Show HG00741.hp2 HG01106.hp2 HG01258.hp1 HG02004.hp1 HG02027.hp1 HG02257.hp1 HG03540.hp2 NA18995.hp2 NA19007.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0002c0002t0001 a0002c0002t0002 a0002c0002t0033	a0001c0001t0001g0152 a0001c0001t0003g0045 a0001c0001t0004g0178 others(7): Show a0001c0001t0001g0152 a0001c0001t0003g0045 a0001c0001t0004g0178 a0001c0001t0007g0179 a0001c0001t0011g0002 a0002c0002t0001g0121 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0002g0070 a0002c0002t0033g0182	10	182	0.0550	39	c.661 others(58): Show c.661+14993_661+14994insCGTACACACCGTGTGTGTATATATAT ACACACATATGCG		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21						chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72450966	A A	AGGCAAAA others(32): Show AGGCAAAAAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	182	0.0055	39	c.505 others(58): Show c.505-35996_505-35995insCTCTTCTCTTCTCTTCTCTTCTCTTC TCTTCTTTTTGCC		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21						chr4	TogoVar

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