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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAPS2_chr12_75270979_75335324	75311699	GGAAAAAA others(4): Show GGAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01099.hp2 HG01106.hp2 others(20): Show HG00544.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01192.hp2 HG01255.hp1 HG01258.hp1 HG01358.hp1 HG01978.hp2 HG02074.hp2 HG02258.hp2 HG02572.hp2 HG02698.hp1 HG03710.hp1 HG03831.hp1 HG04228.hp1 NA18953.hp1 NA18963.hp1 NA18988.hp2 NA18990.hp2 NA18995.hp1 NA19010.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0018 a0001c0001t0026 a0001c0001t0030	a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0053 others(19): Show a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0003g0093 a0001c0001t0003g0102 a0001c0001t0006g0012 a0001c0001t0006g0090 a0001c0001t0009g0092 a0001c0001t0018g0088 a0001c0001t0026g0231 a0001c0001t0030g0324	23	370	0.0622	-11	c.545 others(28): Show c.545+1138_545+1148delTTTTTTTTTTC	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	7/16			chr12	TogoVar
CAPS2_chr12_75270979_75335324	75311701	AAAAAAAA others(4): Show AAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp1 HG02976.hp1 others(1): Show HG02257.hp1 HG02922.hp1 HG02976.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0010g0016 a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0010g0016	4	370	0.0108	-11	c.545 others(28): Show c.545+1136_545+1146delGTTTTTTTTTT	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	7/16			chr12	TogoVar
CAPZA1_chr1_112614832_112676616	112624017	AAAAGAAA others(4): Show AAAAGAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	368	0.0027	-11	c.39+ others(26): Show c.39+4138_39+4148delGAAAAAAGAAA	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA2_chr7_116857587_116927049	116859911	TTTCTTTC others(4): Show TTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01070.hp1 HG01071.hp2 others(35): Show HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01192.hp2 HG01256.hp2 HG02004.hp1 HG02071.hp1 HG02109.hp2 HG02258.hp2 HG02293.hp2 HG02683.hp1 HG02723.hp1 HG02970.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG04228.hp1 NA18955.hp1 NA18961.hp1 NA18968.hp2 NA18977.hp1 NA18992.hp2 NA18995.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19063.hp1 NA19066.hp2 NA19074.hp2 NA19075.hp2 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0001t0034 a0001c0001t0035 a0001c0002t0004 a0001c0002t0010	a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0328 others(35): Show a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0328 a0001c0001t0002g0122 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0273 a0001c0001t0011g0005 a0001c0001t0014g0008 a0001c0001t0014g0009 a0001c0001t0034g0300 a0001c0001t0035g0100 a0001c0002t0004g0301 a0001c0002t0004g0302 a0001c0002t0004g0304 a0001c0002t0004g0305 a0001c0002t0004g0307 a0001c0002t0004g0309 a0001c0002t0004g0310 a0001c0002t0004g0311 a0001c0002t0004g0312 a0001c0002t0004g0313 a0001c0002t0004g0315 a0001c0002t0004g0316 a0001c0002t0004g0317 a0001c0002t0004g0318 a0001c0002t0004g0319 a0001c0002t0004g0320 a0001c0002t0004g0321 a0001c0002t0004g0322 a0001c0002t0004g0323 a0001c0002t0004g0324 a0001c0002t0004g0325 a0001c0002t0004g0327 a0001c0002t0004g0330 a0001c0002t0010g0308 a0001c0002t0010g0314 a0001c0002t0010g0329	38	354	0.1073	-11	c.-27 others(22): Show c.-2700_-2690delTTCTTTCTTTC	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding		2675		chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116880696	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0118 a0001c0001t0022g0118	1	354	0.0028	-11	c.40- others(26): Show c.40-7403_40-7393delTTTTTTTTTTT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890526	ATATATAT others(4): Show ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0113 a0001c0001t0007g0113	1	354	0.0028	-11	c.103 others(28): Show c.103+2337_103+2347delTATATATATAT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9			chr7	TogoVar
CAPZB_chr1_19333775_19490539	19404543	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03139.hp2 NA20129.hp2 HG03130.hp1 HG03139.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0119 a0001c0001t0001g0193 a0001c0001t0010g0117 a0001c0001t0001g0119 a0001c0001t0001g0193 a0001c0001t0010g0117	3	364	0.0082	-11	c.93+ others(28): Show c.93+15107_93+15117delTTTTTTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19416860	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	364	0.0028	-11	c.93+ others(26): Show c.93+2790_93+2800delTTTTTTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19471865	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0164 a0001c0001t0013g0164	1	364	0.0028	-11	c.3+1 others(26): Show c.3+13560_3+13570delTTTTTTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	1/8			chr1	TogoVar
CARD10_chr22_37485362_37524415	37512509	ACACACAC others(4): Show ACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0011 a0011	a0011c0029 a0011c0029	a0011c0029t0001 a0011c0029t0001	a0011c0029t0001g0048 a0011c0029t0001g0048	1	276	0.0036	-11	c.700 others(28): Show c.700-2099_700-2089delGTGTGTGTGTG	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	3/19			chr22	TogoVar
CARD11_chr7_2901142_3048867	2933812	CTTTCTTT others(4): Show CTTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	322	0.0031	-11	c.151 others(28): Show c.1518+630_1518+640delAAGAAAAGAAA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	10/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2951532	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02896.hp2 NA18612.hp1 others(2): Show HG02451.hp1 HG02896.hp2 NA18612.hp1 NA18951.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0010t0002	a0001c0001t0001g0178 a0001c0001t0001g0302 a0001c0003t0001g0214 others(2): Show a0001c0001t0001g0178 a0001c0001t0001g0302 a0001c0003t0001g0214 a0001c0004t0001g0173 a0001c0010t0002g0283	5	322	0.0155	-11	c.8-3 others(24): Show c.8-3756_8-3746delAAAAAAAAAAA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	2/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	3022932	AAAAATTT others(4): Show AAAAATTTATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG00738.hp2 others(39): Show HG00323.hp2 HG00621.hp2 HG00738.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01169.hp2 HG02055.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02602.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18945.hp2 NA18952.hp1 NA18971.hp1 NA18981.hp1 NA18982.hp2 NA18986.hp1 NA18999.hp1 NA19081.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0013 a0015 a0001 a0013 a0015	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0018 a0001c0021 a0013c0055 a0015c0054	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0002 a0001c0010t0002 a0001c0012t0001 a0001c0018t0001 a0001c0021t0001 a0013c0055t0002 a0015c0054t0001	a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0103 others(39): Show a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0103 a0001c0001t0001g0162 a0001c0001t0001g0290 a0001c0001t0004g0276 a0001c0002t0001g0010 a0001c0002t0001g0024 a0001c0002t0001g0027 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0115 a0001c0002t0001g0129 a0001c0002t0001g0153 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0083 a0001c0003t0001g0088 a0001c0003t0001g0104 a0001c0003t0001g0149 a0001c0003t0001g0171 a0001c0003t0001g0223 a0001c0003t0001g0272 a0001c0004t0001g0028 a0001c0004t0001g0043 a0001c0004t0001g0257 a0001c0004t0002g0258 a0001c0005t0001g0131 a0001c0005t0001g0198 a0001c0006t0001g0095 a0001c0007t0001g0091 a0001c0007t0001g0092 a0001c0007t0001g0140 a0001c0009t0002g0314 a0001c0010t0002g0034 a0001c0010t0002g0059 a0001c0012t0001g0049 a0001c0018t0001g0058 a0001c0018t0001g0060 a0001c0021t0001g0021 a0013c0055t0002g0048 a0015c0054t0001g0134	42	322	0.1304	-11	c.-12 others(32): Show c.-126+20724_-126+20734delATATAAATTTT	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	3022934	AAATTTAT others(4): Show AAATTTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp1 HG01192.hp2 others(8): Show HG00639.hp2 HG01175.hp1 HG01192.hp2 HG02723.hp2 HG03195.hp2 HG03209.hp1 NA18939.hp2 NA19030.hp1 NA19043.hp1 NA19079.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0001c0013 a0001c0037	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0005t0001 a0001c0006t0004 a0001c0011t0001 a0001c0013t0001 a0001c0037t0001	a0001c0001t0001g0038 a0001c0001t0004g0106 a0001c0004t0001g0022 others(8): Show a0001c0001t0001g0038 a0001c0001t0004g0106 a0001c0004t0001g0022 a0001c0004t0001g0304 a0001c0005t0001g0007 a0001c0005t0001g0307 a0001c0006t0004g0305 a0001c0011t0001g0029 a0001c0013t0001g0217 a0001c0013t0001g0265 a0001c0037t0001g0271	11	322	0.0342	-11	c.-12 others(32): Show c.-126+20722_-126+20732delATATATAAATT	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	3040334	TTGTTTTT others(4): Show TTGTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02109.hp2 HG02145.hp2 others(3): Show HG00408.hp2 HG02109.hp2 HG02145.hp2 HG02572.hp2 HG02647.hp2 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0002c0062	a0001c0001t0001 a0001c0002t0001 a0001c0013t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0013t0001 a0002c0062t0003	a0001c0001t0001g0319 a0001c0002t0001g0155 a0001c0002t0001g0156 others(3): Show a0001c0001t0001g0319 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0219 a0001c0013t0001g0064 a0002c0062t0003g0310	6	322	0.0186	-11	c.-12 others(30): Show c.-126+3322_-126+3332delCAAAAAAAACA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	3040910	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02965.hp1 HG02976.hp2 others(1): Show HG02717.hp2 HG02965.hp1 HG02976.hp2 HG03130.hp1	a0001 a0001	a0001c0006 a0001c0010 a0001c0014 a0001c0006 a0001c0010 a0001c0014	a0001c0006t0005 a0001c0010t0002 a0001c0014t0001 a0001c0006t0005 a0001c0010t0002 a0001c0014t0001	a0001c0006t0005g0001 a0001c0010t0002g0097 a0001c0010t0002g0188 others(1): Show a0001c0006t0005g0001 a0001c0010t0002g0097 a0001c0010t0002g0188 a0001c0014t0001g0098	4	322	0.0124	-11	c.-12 others(30): Show c.-126+2746_-126+2756delAAAAAAAAAAA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD14_chr17_80165030_80214331	80175952	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01884.hp2 HG02735.hp2 others(1): Show HG01496.hp2 HG01884.hp2 HG02735.hp2 HG02809.hp2	a0001 a0003 a0001 a0003	a0001c0024 a0003c0006 a0001c0024 a0003c0006	a0001c0024t0011 a0003c0006t0008 a0001c0024t0011 a0003c0006t0008	a0001c0024t0011g0360 a0001c0024t0011g0361 a0001c0024t0011g0362 others(1): Show a0001c0024t0011g0360 a0001c0024t0011g0361 a0001c0024t0011g0362 a0003c0006t0008g0320	4	376	0.0106	-11	c.-36 others(30): Show c.-366-2526_-366-2516delTTTTTTTTTTT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD19_chr9_93091217_93118283	93115761	AGTGAGGG others(4): Show AGTGAGGGAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	358	0.0028	-11	c.26 others(22): Show c.2655_*2665delGTGAGGGAGGG	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2479		chr9	TogoVar
CARD6_chr5_40836367_40860354	40850428	AAAAAAGC others(4): Show AAAAAAGCCAGG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18952.hp2 NA19000.hp1 others(4): Show HG02040.hp1 NA18952.hp2 NA19000.hp1 NA19006.hp1 NA19056.hp2 NA19064.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0188 a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0188	7	440	0.0159	-11	c.842 others(28): Show c.842-1745_842-1735delAAAAAGCCAGG	CARD6	ENSG00000132357.14	transcript	ENST00000254691.10	protein_coding	2/2			chr5	TogoVar
CARD6_chr5_40836367_40860354	40850523	TGGGCAAC others(4): Show TGGGCAACACAG	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18952.hp2 NA19000.hp1 others(5): Show HG02040.hp1 NA18952.hp2 NA19000.hp1 NA19006.hp1 NA19056.hp2 NA19064.hp1 NA19078.hp1 NA19080.hp1	a0001 a0019 a0001 a0019	a0001c0001 a0019c0021 a0001c0001 a0019c0021	a0001c0001t0002 a0019c0021t0002 a0001c0001t0002 a0019c0021t0002	a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0188 others(1): Show a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0188 a0019c0021t0002g0128	8	440	0.0182	-11	c.842 others(28): Show c.842-1650_842-1640delGGGCAACACAG	CARD6	ENSG00000132357.14	transcript	ENST00000254691.10	protein_coding	2/2			chr5	TogoVar
CARD8_chr19_48203086_48260912	48214769	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0013 a0002c0001t0013	a0002c0001t0013g0075 a0002c0001t0013g0075	1	362	0.0028	-11	c.134 others(28): Show c.1348+560_1348+570delAAAAAAAAAAA	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	13/13			chr19	TogoVar
CARF_chr2_202907275_202993263	202939685	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0035 a0001c0001t0008g0035	1	334	0.0030	-11	c.-43 others(28): Show c.-43-2164_-43-2154delTTTTTTTTTTT	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARHSP1_chr16_8847947_8874006	8855663	CCAAGCCA others(4): Show CCAAGCCAGAGA	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0139 a0001c0002t0002g0139	1	470	0.0021	-11	c.282 others(26): Show c.282-348_282-338delTCTCTGGCTTG	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861158	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02055.hp2 others(4): Show HG01167.hp2 HG01169.hp2 HG02055.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0002 a0001c0006t0009 a0001c0001t0001 a0001c0002t0002 a0001c0006t0009	a0001c0001t0001g0073 a0001c0002t0002g0033 a0001c0002t0002g0177 others(3): Show a0001c0001t0001g0073 a0001c0002t0002g0033 a0001c0002t0002g0177 a0001c0002t0002g0347 a0001c0002t0002g0370 a0001c0006t0009g0020	7	470	0.0149	-11	c.-7- others(26): Show c.-7-1834_-7-1824delAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARM1_chr19_10866553_10928075	10871639	CAGCGGCG others(4): Show CAGCGGCGGCGG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0066 a0001c0001t0043g0066	1	354	0.0028	-11	c.-63 others(18): Show c.-63_-53delAGCGGCGGCGG	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/16	53		chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25316755	GAGGGAAA others(4): Show GAGGGAAAGAGA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	186	0.0054	-11	c.138 others(30): Show c.138+31849_138+31859delGGAAAGAGAAG	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25390309	TATATATA others(4): Show TATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02145.hp2 HG03490.hp2 HG01934.hp1 HG02145.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0004t0004 a0001c0001t0001 a0001c0004t0002 a0001c0004t0004	a0001c0001t0001g0130 a0001c0004t0002g0088 a0001c0004t0004g0115 a0001c0001t0001g0130 a0001c0004t0002g0088 a0001c0004t0004g0115	3	186	0.0161	-11	c.139 others(30): Show c.139-29804_139-29794delATATATATATA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459258	CTTTCTTT others(4): Show CTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03516.hp2 HG02572.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0023 a0002c0005t0003 a0001c0003t0023 a0002c0005t0003	a0001c0003t0023g0161 a0002c0005t0003g0011 a0001c0003t0023g0161 a0002c0005t0003g0011	2	186	0.0108	-11	c.615 others(28): Show c.615-6611_615-6601delCTTTCTTTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25460956	ATCACCGT others(4): Show ATCACCGTTCCC	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0182 a0001c0004t0009g0182	1	186	0.0054	-11	c.615 others(28): Show c.615-4914_615-4904delACCGTTCCCTC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25490742	TAAATAAA others(4): Show TAAATAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02135.hp1 NA18983.hp1 others(1): Show HG00609.hp2 HG02135.hp1 NA18983.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0006 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0008t0001 a0001c0008t0010	a0001c0001t0001g0102 a0001c0001t0006g0061 a0001c0008t0001g0100 others(1): Show a0001c0001t0001g0102 a0001c0001t0006g0061 a0001c0008t0001g0100 a0001c0008t0010g0148	4	186	0.0215	-11	c.106 others(28): Show c.1066-986_1066-976delTAAATAAAAAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	13/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25523133	GACAATAT others(4): Show GACAATATGATT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0091 a0002c0007t0006g0091	1	186	0.0054	-11	c.196 others(30): Show c.1968+2797_1968+2807delACAATATGATT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	23/36			chr6	TogoVar
CARS2_chr13_110636417_110711116	110664084	TTAAGGAA others(4): Show TTAAGGAACTCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00558.hp1 others(21): Show HG00280.hp1 HG00408.hp2 HG00558.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01993.hp1 HG02074.hp2 HG02293.hp2 HG03017.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18949.hp2 NA18950.hp2 NA18964.hp1 NA18972.hp1 NA19000.hp1 NA19068.hp2 NA19079.hp2 NA20752.hp2	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0003 a0003c0006 a0012c0023 a0001c0003 a0003c0006 a0012c0023	a0001c0003t0001 a0003c0006t0002 a0012c0023t0002 a0001c0003t0001 a0003c0006t0002 a0012c0023t0002	a0001c0003t0001g0325 a0001c0003t0001g0343 a0003c0006t0002g0023 others(20): Show a0001c0003t0001g0325 a0001c0003t0001g0343 a0003c0006t0002g0023 a0003c0006t0002g0321 a0003c0006t0002g0322 a0003c0006t0002g0323 a0003c0006t0002g0324 a0003c0006t0002g0326 a0003c0006t0002g0327 a0003c0006t0002g0328 a0003c0006t0002g0329 a0003c0006t0002g0330 a0003c0006t0002g0331 a0003c0006t0002g0332 a0003c0006t0002g0333 a0003c0006t0002g0334 a0003c0006t0002g0335 a0003c0006t0002g0336 a0003c0006t0002g0338 a0003c0006t0002g0340 a0003c0006t0002g0341 a0003c0006t0002g0342 a0012c0023t0002g0339	24	372	0.0645	-11	c.920 others(26): Show c.920-577_920-567delGGAGTTCCTTA	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	8/14			chr13	TogoVar
CARS2_chr13_110636417_110711116	110708811	TGGCACGA others(4): Show TGGCACGATCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0019 a0001c0025 a0001c0027 a0002c0004 a0003c0024 a0003c0028 a0005c0010 a0006c0015 a0008c0013 a0009c0016 a0013c0029 a0014c0030 a0015c0022 a0016c0021 a0017c0026	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001 a0001c0005t0002 a0001c0007t0001 a0001c0019t0001 a0001c0025t0001 a0001c0027t0001 a0002c0004t0001 a0003c0024t0001 a0003c0028t0001 a0005c0010t0001 a0006c0015t0002 a0008c0013t0001 a0009c0016t0001 a0013c0029t0001 a0014c0030t0001 a0015c0022t0001 a0016c0021t0001 a0017c0026t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(210): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0145 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0072 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0224 a0001c0002t0001g0233 a0001c0002t0002g0017 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0003t0001g0018 a0001c0003t0001g0158 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0234 a0001c0003t0002g0066 a0001c0003t0002g0304 a0001c0003t0002g0305 a0001c0003t0002g0309 a0001c0003t0002g0312 a0001c0003t0002g0314 a0001c0003t0002g0316 a0001c0003t0002g0319 a0001c0003t0002g0320 a0001c0005t0001g0002 a0001c0005t0001g0010 a0001c0005t0001g0014 a0001c0005t0001g0078 a0001c0005t0001g0092 a0001c0005t0001g0093 a0001c0005t0001g0133 a0001c0005t0001g0134 a0001c0005t0001g0136 a0001c0005t0001g0138 a0001c0005t0001g0140 a0001c0005t0001g0141 a0001c0005t0001g0150 a0001c0005t0001g0170 a0001c0005t0001g0171 a0001c0005t0001g0172 a0001c0005t0001g0173 a0001c0005t0001g0174 a0001c0005t0001g0177 a0001c0005t0001g0178 a0001c0005t0001g0232 a0001c0005t0002g0135 a0001c0007t0001g0192 a0001c0019t0001g0208 a0001c0025t0001g0111 a0001c0027t0001g0175 a0002c0004t0001g0221 a0002c0004t0001g0222 a0003c0024t0001g0148 a0003c0028t0001g0137 a0005c0010t0001g0100 a0005c0010t0001g0101 a0005c0010t0001g0107 a0006c0015t0002g0064 a0006c0015t0002g0065 a0008c0013t0001g0025 a0008c0013t0001g0026 a0009c0016t0001g0024 a0013c0029t0001g0176 a0014c0030t0001g0139 a0015c0022t0001g0112 a0016c0021t0001g0206 a0017c0026t0001g0087	234	372	0.6290	-11	c.-27 others(22): Show c.-2729_-2719delGAGATCGTGCC	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding		2696		chr13	TogoVar
CARTPT_chr5_71714275_71726045	71725249	CTTTTTTT others(4): Show CTTTTTTTTTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	474	0.0021	-11	c.46 others(22): Show c.4635_*4645delTTTTTTTTTTG	CARTPT	ENSG00000164326.5	transcript	ENST00000296777.5	protein_coding		4205		chr5	TogoVar
CASK_chrX_41509934_41928554	41683568	GGAGGATC others(4): Show GGAGGATCACTT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp1 HG02897.hp2 HG02622.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0044	3	164	0.0183	-11	c.430 others(30): Show c.430-12049_430-12039delAAGTGATCCTC	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41785002	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01891.hp1 others(5): Show HG01167.hp1 HG01169.hp1 HG01891.hp1 HG02109.hp2 HG02145.hp1 HG02622.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0006 a0001c0001t0007 a0001c0001t0026 others(1): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0026 a0001c0007t0027	a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0039 others(5): Show a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0039 a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0026g0008 a0001c0007t0027g0160	8	164	0.0488	-11	c.278 others(28): Show c.278+2165_278+2175delAAAAAAAAAAA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41840785	TATGATCA others(4): Show TATGATCAAATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(22): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00735.hp2 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG02109.hp2 HG02145.hp1 HG02622.hp1 HG02683.hp1 HG02735.hp1 HG02896.hp2 HG02897.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03579.hp1 HG04228.hp1 NA18957.hp2 NA18973.hp2 NA18990.hp1 NA19074.hp1 NA19077.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0025 a0001c0001t0026 a0001c0006t0028	a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0002g0009 others(22): Show a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0039 a0001c0001t0007g0006 a0001c0001t0025g0019 a0001c0001t0026g0008 a0001c0006t0028g0018	25	164	0.1524	-11	c.172 others(30): Show c.172+12319_172+12329delTATTTGATCAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASP1_chr11_105020508_105040144	105029483	TTAAATAT others(4): Show TTAAATATGGAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01081.hp1 HG01106.hp1 others(16): Show HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01943.hp1 HG01981.hp2 HG02004.hp2 HG02257.hp2 HG02273.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02738.hp1 HG03490.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0003 a0001c0007t0003 a0001c0002t0003 a0001c0007t0003	a0001c0002t0003g0003 a0001c0002t0003g0027 a0001c0002t0003g0040 others(1): Show a0001c0002t0003g0003 a0001c0002t0003g0027 a0001c0002t0003g0040 a0001c0007t0003g0023	19	398	0.0477	-11	c.862 others(26): Show c.862+171_862+181delTTCCATATTTA	CASP1	ENSG00000137752.25	transcript	ENST00000533400.6	protein_coding	6/8			chr11	TogoVar
CASP2_chr7_143283351_143312696	143310527	AACCCTCT others(4): Show AACCCTCTAGTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02109.hp2 HG00735.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0101 a0001c0001t0010g0107 a0001c0001t0010g0101 a0001c0001t0010g0107	2	246	0.0081	-11	c.54 others(22): Show c.5457_*5467delACCCTCTAGTT	CASP2	ENSG00000106144.20	transcript	ENST00000310447.10	protein_coding		2832		chr7	TogoVar
CASP6_chr4_109683628_109708445	109705992	AAAAAAAA others(4): Show AAAAAAAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 NA20129.hp1 HG02809.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0002c0003t0003 a0001c0001t0005 a0002c0003t0003	a0001c0001t0005g0194 a0002c0003t0003g0010 a0001c0001t0005g0194 a0002c0003t0003g0010	2	416	0.0048	-11	c.-26 others(22): Show c.-2608_-2598delATTTTTTTTTT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2548		chr4	TogoVar
CASP6_chr4_109683628_109708445	109705996	AAAAAAAT others(4): Show AAAAAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02155.hp2 NA18992.hp2 HG02071.hp2 HG02155.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0025 a0001c0001t0004g0047 a0001c0001t0002g0025 a0001c0001t0004g0047	3	416	0.0072	-11	c.-26 others(22): Show c.-2612_-2602delATATATTTTTT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2552		chr4	TogoVar
CASP7_chr10_113674912_113735905	113687913	TTCTTTCC others(4): Show TTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA20805.hp2 HG01433.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0256 a0001c0001t0002g0257	2	406	0.0049	-11	c.-1+ others(26): Show c.-1+7937_-1+7947delCTTTCCTTCCT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP8_chr2_201255536_201292709	201289247	GGGAGAAG others(4): Show GGGAGAAGTATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	386	0.0026	-11	c.26 others(22): Show c.2654_*2664delGGAGAAGTATA	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding		1539		chr2	TogoVar
CASP9_chr1_15486401_15529215	15494862	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0170	1	350	0.0029	-11	c.104 others(28): Show c.1048+400_1048+410delTTTTTTTTTTT	CASP9	ENSG00000132906.18	transcript	ENST00000333868.10	protein_coding	7/8			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115747843	GGTTTTTG others(4): Show GGTTTTTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01081.hp2 others(109): Show HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01255.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02055.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18965.hp1 NA18968.hp2 NA18970.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19078.hp1 NA19080.hp1 NA19084.hp1 NA19085.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0007 others(5): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0002c0004 a0002c0013 a0004c0008 a0005c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0001t0021 a0001c0002t0001 a0001c0002t0003 a0001c0007t0009 a0002c0003t0007 a0002c0004t0002 a0002c0004t0011 a0002c0004t0018 a0002c0013t0009 a0004c0008t0001 a0004c0008t0003 a0005c0009t0001 a0005c0009t0013	a0001c0001t0002g0001 a0001c0001t0002g0050 a0001c0001t0002g0051 others(108): Show a0001c0001t0002g0001 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0195 a0001c0001t0002g0233 a0001c0001t0004g0058 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0071 a0001c0001t0015g0054 a0001c0001t0021g0125 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0066 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0003g0056 a0001c0002t0003g0090 a0001c0007t0009g0052 a0002c0003t0007g0012 a0002c0003t0007g0014 a0002c0003t0007g0015 a0002c0003t0007g0017 a0002c0003t0007g0018 a0002c0003t0007g0019 a0002c0004t0002g0289 a0002c0004t0002g0308 a0002c0004t0002g0325 a0002c0004t0002g0334 a0002c0004t0011g0009 a0002c0004t0011g0010 a0002c0004t0011g0013 a0002c0004t0011g0020 a0002c0004t0018g0016 a0002c0013t0009g0309 a0004c0008t0001g0273 a0004c0008t0001g0314 a0004c0008t0001g0315 a0004c0008t0001g0361 a0004c0008t0003g0358 a0005c0009t0001g0059 a0005c0009t0013g0032	112	364	0.3077	-11	c.235 others(28): Show c.235-2942_235-2932delAAAACAAAAAC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASR_chr3_122178668_122296629	122228334	CAGCATAT others(4): Show CAGCATATAATG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	314	0.0032	-11	c.-24 others(32): Show c.-242-25608_-242-25598delATAATGAGCAT	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASS4_chr20_56407260_56465382	56418565	TGGAGACT others(4): Show TGGAGACTTCAG	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0188 a0001c0002t0002g0188	1	376	0.0027	-11	c.36+ others(26): Show c.36+6072_36+6082delGGAGACTTCAG	CASS4	ENSG00000087589.17	transcript	ENST00000679887.1	protein_coding	1/5			chr20	TogoVar
CASTOR2_chr7_74959705_75036528	74960680	AAATATAT others(4): Show AAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG02056.hp1 NA19043.hp2 others(1): Show HG01346.hp2 HG02056.hp1 NA19043.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0060 a0001c0001t0001 a0001c0001t0010 a0001c0001t0060	a0001c0001t0001g0155 a0001c0001t0001g0173 a0001c0001t0010g0156 others(1): Show a0001c0001t0001g0155 a0001c0001t0001g0173 a0001c0001t0010g0156 a0001c0001t0060g0069	4	228	0.0175	-11	c.-43 others(22): Show c.-4305_-4295delAATATATATAT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		4024		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74960682	ATATATAT others(4): Show ATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01433.hp1 HG02132.hp1 others(3): Show HG01175.hp1 HG01433.hp1 HG02132.hp1 HG03927.hp2 NA18944.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0055 a0001c0001t0001 a0001c0001t0002 a0001c0001t0055	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 others(3): Show a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0150 a0001c0001t0002g0114 a0001c0001t0055g0127	6	228	0.0263	-11	c.-43 others(22): Show c.-4303_-4293delTATATATATAT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		4022		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74960702	ATATATAT others(4): Show ATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02165.hp2 HG06807.hp1 HG02074.hp2 HG02165.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0059 a0001c0001t0076 a0001c0001t0034 a0001c0001t0059 a0001c0001t0076	a0001c0001t0034g0151 a0001c0001t0059g0165 a0001c0001t0076g0107 a0001c0001t0034g0151 a0001c0001t0059g0165 a0001c0001t0076g0107	3	228	0.0132	-11	c.-42 others(22): Show c.-4283_-4273delTATATATATAT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		4002		chr7	TogoVar

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