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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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	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
ASCC3_chr6_100503194_100886329	100661323	T T	TCACACA TCACACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG02615.hp2 others(5): Show HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02922.hp1 HG03225.hp2 HG03486.hp2 NA18981.hp2 NA18994.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0013 a0020	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0013c0021 a0020c0033	a0001c0001t0004 a0001c0002t0003 a0002c0003t0002 others(4): Show a0001c0001t0004 a0001c0002t0003 a0002c0003t0002 a0002c0003t0018 a0003c0004t0001 a0013c0021t0001 a0020c0033t0001	a0001c0001t0004g0197 a0001c0002t0003g0124 a0002c0003t0002g0053 others(5): Show a0001c0001t0004g0197 a0001c0002t0003g0124 a0002c0003t0002g0053 a0002c0003t0018g0311 a0003c0004t0001g0209 a0003c0004t0001g0308 a0013c0021t0001g0210 a0020c0033t0001g0207	8	314	0.0255	6	c.270 others(23): Show c.2703+477_2703+482dupTGTGTG		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	16/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100687028	T T	TCACACA TCACACA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02273.hp2 HG02615.hp2 HG01993.hp1 HG02273.hp2 HG02615.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0018 a0002c0003t0002 a0002c0003t0018	a0002c0003t0002g0029 a0002c0003t0002g0033 a0002c0003t0018g0311 a0002c0003t0002g0029 a0002c0003t0002g0033 a0002c0003t0018g0311	3	314	0.0096	6	c.215 others(25): Show c.2152-7277_2152-7276insTGTGTG		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	13/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100687030	T T	TCACACA TCACACA	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18966.hp1 NA18971.hp1 others(3): Show HG02165.hp2 NA18966.hp1 NA18971.hp1 NA18977.hp1 NA18981.hp2 NA18983.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0008 a0001c0002 a0004c0008	a0001c0002t0003 a0004c0008t0003 a0001c0002t0003 a0004c0008t0003	a0001c0002t0003g0077 a0001c0002t0003g0102 a0001c0002t0003g0104 others(3): Show a0001c0002t0003g0077 a0001c0002t0003g0102 a0001c0002t0003g0104 a0001c0002t0003g0117 a0001c0002t0003g0124 a0004c0008t0003g0057	6	314	0.0191	6	c.215 others(25): Show c.2152-7279_2152-7278insTGTGTG		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	13/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100687032	T T	TCACACA TCACACA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02083.hp2 HG02129.hp1 others(5): Show HG00609.hp2 HG02083.hp2 HG02129.hp1 NA18612.hp2 NA18943.hp1 NA18945.hp2 NA19007.hp1 NA19068.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 others(5): Show a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 a0001c0006t0005g0164 a0001c0006t0005g0165 a0001c0006t0005g0166 a0001c0006t0005g0167 a0001c0006t0005g0168	8	314	0.0255	6	c.215 others(25): Show c.2152-7281_2152-7280insTGTGTG		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	13/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100687034	T T	TCACACA TCACACA	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18966.hp2 NA18974.hp2 HG02451.hp2 NA18966.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0232 a0001c0001t0001g0253 a0001c0001t0001g0254	3	314	0.0096	6	c.215 others(25): Show c.2152-7288_2152-7283dupTGTGTG		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	13/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100711147	C C	CATACTA CATACTA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG03453.hp1 others(3): Show HG02486.hp1 HG02559.hp1 HG03453.hp1 NA19030.hp1 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 others(3): Show a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206	6	314	0.0191	6	c.215 others(25): Show c.2151+4314_2151+4315insTAGTAT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	13/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100723860	T T	TTATATA TTATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03516.hp1 NA18951.hp1 HG02040.hp1 HG03516.hp1 NA18951.hp1	a0002 a0007 a0002 a0007	a0002c0003 a0007c0012 a0002c0003 a0007c0012	a0002c0003t0002 a0007c0012t0009 a0002c0003t0002 a0007c0012t0009	a0002c0003t0002g0006 a0002c0003t0002g0024 a0007c0012t0009g0313 a0002c0003t0002g0006 a0002c0003t0002g0024 a0007c0012t0009g0313	3	314	0.0096	6	c.190 others(25): Show c.1902+1673_1902+1678dupTATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	11/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100727649	T T	TAACAAC TAACAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01074.hp1 others(25): Show HG00140.hp1 HG00738.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp1 HG01168.hp2 HG01175.hp1 HG01516.hp1 HG01928.hp1 HG01943.hp1 HG02004.hp2 HG02074.hp1 HG02132.hp2 HG02148.hp2 HG02523.hp1 HG02615.hp2 HG02683.hp1 HG02723.hp2 HG03209.hp2 HG03831.hp1 HG03834.hp2 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18944.hp2 NA18964.hp2 NA18981.hp1 NA19077.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0010 a0016 a0022	a0001c0001 a0001c0011 a0002c0003 others(5): Show a0001c0001 a0001c0011 a0002c0003 a0004c0008 a0006c0009 a0010c0035 a0016c0017 a0022c0037	a0001c0001t0001 a0001c0011t0002 a0002c0003t0002 others(6): Show a0001c0001t0001 a0001c0011t0002 a0002c0003t0002 a0002c0003t0018 a0004c0008t0003 a0006c0009t0001 a0010c0035t0002 a0016c0017t0003 a0022c0037t0002	a0001c0001t0001g0213 a0001c0011t0002g0072 a0001c0011t0002g0073 others(25): Show a0001c0001t0001g0213 a0001c0011t0002g0072 a0001c0011t0002g0073 a0002c0003t0002g0028 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0039 a0002c0003t0002g0041 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0048 a0002c0003t0002g0050 a0002c0003t0002g0052 a0002c0003t0002g0054 a0002c0003t0002g0060 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0018g0311 a0004c0008t0003g0055 a0006c0009t0001g0307 a0010c0035t0002g0044 a0016c0017t0003g0133 a0022c0037t0002g0056	28	314	0.0892	6	c.173 others(25): Show c.1738-1952_1738-1947dupGTTGTT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	10/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100732682	C C	CTAGAAG CTAGAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0015 a0016 a0017 a0019 a0021 a0022	a0001c0001 a0001c0002 a0001c0011 others(25): Show a0001c0001 a0001c0002 a0001c0011 a0001c0015 a0001c0019 a0001c0020 a0001c0029 a0001c0034 a0002c0003 a0003c0004 a0003c0005 a0003c0026 a0004c0008 a0004c0013 a0005c0007 a0005c0022 a0006c0009 a0006c0027 a0008c0010 a0009c0036 a0010c0035 a0011c0028 a0015c0030 a0016c0017 a0017c0031 a0019c0016 a0021c0014 a0022c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0011 a0001c0002t0013 a0001c0011t0001 a0001c0011t0002 a0001c0015t0001 a0001c0019t0012 a0001c0020t0003 a0001c0029t0001 a0001c0034t0001 a0002c0003t0002 a0002c0003t0018 a0003c0004t0004 a0003c0005t0002 a0003c0026t0001 a0004c0008t0002 a0004c0008t0003 a0004c0013t0003 a0005c0007t0001 a0005c0007t0008 a0005c0022t0003 a0006c0009t0001 a0006c0009t0002 a0006c0009t0004 a0006c0027t0001 a0008c0010t0003 a0008c0010t0007 a0009c0036t0002 a0010c0035t0002 a0011c0028t0002 a0015c0030t0001 a0016c0017t0003 a0017c0031t0003 a0019c0016t0002 a0021c0014t0014 a0022c0037t0002	a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 others(284): Show a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0119 a0001c0001t0002g0138 a0001c0001t0004g0188 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0010g0001 a0001c0001t0015g0300 a0001c0001t0016g0230 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0290 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0142 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0082 a0001c0002t0003g0096 a0001c0002t0003g0097 a0001c0002t0003g0099 a0001c0002t0003g0100 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0103 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0132 a0001c0002t0003g0137 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0153 a0001c0002t0006g0181 a0001c0002t0006g0183 a0001c0002t0006g0186 a0001c0002t0011g0003 a0001c0002t0013g0121 a0001c0011t0001g0297 a0001c0011t0002g0072 a0001c0011t0002g0073 a0001c0015t0001g0281 a0001c0019t0012g0120 a0001c0020t0003g0134 a0001c0029t0001g0303 a0001c0034t0001g0257 a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0009 a0002c0003t0002g0010 a0002c0003t0002g0011 a0002c0003t0002g0012 a0002c0003t0002g0013 a0002c0003t0002g0014 a0002c0003t0002g0015 a0002c0003t0002g0016 a0002c0003t0002g0017 a0002c0003t0002g0019 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0024 a0002c0003t0002g0025 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0033 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0039 a0002c0003t0002g0041 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0050 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0060 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0003t0002g0064 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0068 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0002g0157 a0002c0003t0002g0158 a0002c0003t0002g0159 a0002c0003t0018g0311 a0003c0004t0004g0171 a0003c0004t0004g0172 a0003c0004t0004g0173 a0003c0004t0004g0174 a0003c0004t0004g0175 a0003c0004t0004g0176 a0003c0004t0004g0177 a0003c0004t0004g0178 a0003c0004t0004g0179 a0003c0004t0004g0180 a0003c0004t0004g0182 a0003c0004t0004g0184 a0003c0004t0004g0185 a0003c0004t0004g0187 a0003c0004t0004g0189 a0003c0004t0004g0190 a0003c0004t0004g0191 a0003c0004t0004g0193 a0003c0004t0004g0194 a0003c0004t0004g0195 a0003c0004t0004g0199 a0003c0004t0004g0200 a0003c0005t0002g0131 a0003c0005t0002g0147 a0003c0005t0002g0148 a0003c0005t0002g0149 a0003c0005t0002g0150 a0003c0005t0002g0151 a0003c0005t0002g0152 a0003c0005t0002g0154 a0003c0005t0002g0155 a0003c0005t0002g0156 a0003c0026t0001g0259 a0004c0008t0002g0018 a0004c0008t0002g0020 a0004c0008t0003g0055 a0004c0008t0003g0057 a0004c0008t0003g0063 a0004c0013t0003g0040 a0004c0013t0003g0065 a0005c0007t0001g0291 a0005c0007t0001g0292 a0005c0007t0001g0293 a0005c0007t0008g0309 a0005c0007t0008g0310 a0005c0022t0003g0098 a0006c0009t0001g0307 a0006c0009t0002g0111 a0006c0009t0004g0192 a0006c0027t0001g0305 a0008c0010t0003g0092 a0008c0010t0007g0002 a0008c0010t0007g0004 a0009c0036t0002g0049 a0010c0035t0002g0044 a0011c0028t0002g0074 a0015c0030t0001g0233 a0016c0017t0003g0133 a0017c0031t0003g0110 a0019c0016t0002g0160 a0021c0014t0014g0242 a0022c0037t0002g0056	287	314	0.9140	6	c.173 others(25): Show c.1738-6985_1738-6980dupCTTCTA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	10/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100857881	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(33): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00609.hp2 HG01071.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01496.hp2 HG01884.hp1 HG02083.hp2 HG02129.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02723.hp2 HG02965.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03942.hp2 HG04184.hp1 NA18612.hp2 NA18943.hp1 NA18945.hp2 NA19007.hp1 NA19030.hp1 NA19043.hp2 NA19068.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0014	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0001c0029 a0005c0007 a0006c0009 a0006c0027 a0014c0024	a0001c0001t0001 a0001c0001t0015 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0001 a0001c0006t0005 a0001c0011t0001 a0001c0011t0002 a0001c0029t0001 a0005c0007t0001 a0006c0009t0001 a0006c0027t0001 a0014c0024t0001	a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 others(33): Show a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0015g0300 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0290 a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 a0001c0006t0005g0164 a0001c0006t0005g0165 a0001c0006t0005g0166 a0001c0006t0005g0167 a0001c0006t0005g0168 a0001c0006t0005g0169 a0001c0006t0005g0170 a0001c0011t0001g0297 a0001c0011t0002g0072 a0001c0011t0002g0073 a0001c0029t0001g0303 a0005c0007t0001g0291 a0005c0007t0001g0292 a0005c0007t0001g0293 a0006c0009t0001g0307 a0006c0027t0001g0305 a0014c0024t0001g0294	36	314	0.1147	6	c.241 others(23): Show c.241+6177_241+6182dupGTGTGT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	3/41						chr6	TogoVar
ASCL1_chr12_102952674_102965513	102958393	C C	CGCAGCA CGCAGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01081.hp1 HG02109.hp2 HG02647.hp1 others(4): Show HG01081.hp1 HG02109.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG04184.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0002 a0005c0004t0012 others(2): Show a0005c0004t0001 a0005c0004t0002 a0005c0004t0012 a0005c0004t0013 a0005c0004t0018	a0005c0004t0001g0001 a0005c0004t0002g0001 a0005c0004t0012g0001 others(2): Show a0005c0004t0001g0001 a0005c0004t0002g0001 a0005c0004t0012g0001 a0005c0004t0013g0001 a0005c0004t0018g0001	7	354	0.0198	6	c.181 others(13): Show c.181_186dupCAGCAG	p.Gln others(11): Show p.Gln61_Gln62dup	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding	1/2	758/2481	187/711	63/236		INFO_REALIGN_3_PRIME	chr12	TogoVar
ASCL1_chr12_102952674_102965513	102960698	T T	TTGTGTG TTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02015.hp2 HG02056.hp2 others(10): Show HG00558.hp1 HG02015.hp2 HG02056.hp2 HG02523.hp2 HG02615.hp1 HG02630.hp1 HG02965.hp2 HG03225.hp1 NA18943.hp1 NA19000.hp1 NA19000.hp2 NA19043.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0020	a0001c0001t0001g0001 a0001c0001t0002g0001 a0002c0002t0002g0001 others(3): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0002c0002t0002g0001 a0003c0003t0001g0001 a0003c0003t0002g0001 a0003c0003t0020g0001	13	354	0.0367	6	c.13 others(17): Show c.1384_*1385insTGTGTG		ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding					186		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962376	C C	CTTTCTT CTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00738.hp1 HG01433.hp1 others(8): Show HG00673.hp1 HG00738.hp1 HG01433.hp1 HG01516.hp2 HG01884.hp2 HG01981.hp1 HG01981.hp2 HG03516.hp1 HG03688.hp2 NA18946.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0009 a0001c0001t0001 a0001c0006t0009	a0001c0001t0001g0001 a0001c0006t0009g0001 a0001c0001t0001g0001 a0001c0006t0009g0001	11	354	0.0311	6	c.30 others(17): Show c.3062_*3063insTTTCTT		ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding					1864		chr12	TogoVar
ASCL3_chr11_8932578_8948016	8941342	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01346.hp2 HG01891.hp2 others(27): Show HG00741.hp1 HG01346.hp2 HG01891.hp2 HG02258.hp2 HG02523.hp1 HG02622.hp2 HG02922.hp1 HG02965.hp2 HG03130.hp2 HG03195.hp1 HG03486.hp2 HG03491.hp1 HG03579.hp1 HG03927.hp1 NA18747.hp2 NA18906.hp1 NA18947.hp2 NA18948.hp2 NA18953.hp1 NA18968.hp1 NA18981.hp2 NA18989.hp1 NA18998.hp2 NA19005.hp2 NA19043.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0004 a0002c0002t0001g0037 a0002c0002t0001g0039	30	440	0.0682	6	c.-13 others(23): Show c.-13+1638_-13+1643dupGTGTGT		ASCL3	ENSG00000176009.4	transcript	ENST00000531618.2	protein_coding	1/1						chr11	TogoVar
ASCL3_chr11_8932578_8948016	8944699	A A	ATTTTTT ATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02258.hp1 others(5): Show HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02559.hp1 HG02630.hp1 HG02976.hp1 HG03471.hp2 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0018 a0002c0002t0001g0026 a0002c0002t0001g0013 a0002c0002t0001g0018 a0002c0002t0001g0026	8	440	0.0182	6	c.-17 others(17): Show c.-1727_-1726insAAAAAA		ASCL3	ENSG00000176009.4	transcript	ENST00000531618.2	protein_coding					1684		chr11	TogoVar
ASCL4_chr12_107769704_107781644	107773043	A A	AAATAAT AAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00733.hp2 others(33): Show HG00099.hp2 HG00408.hp1 HG00733.hp2 HG01074.hp1 HG01361.hp1 HG01884.hp2 HG01943.hp1 HG02056.hp2 HG02071.hp2 HG02257.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG02970.hp2 HG03098.hp2 HG03195.hp1 HG03453.hp1 HG03834.hp1 HG03942.hp2 NA18949.hp1 NA18954.hp1 NA18955.hp1 NA18972.hp2 NA18983.hp1 NA18987.hp2 NA18994.hp1 NA19004.hp2 NA19065.hp1 NA19066.hp1 NA19081.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0002 a0002c0002t0003	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0004t0002g0000 a0002c0002t0003g0000	36	462	0.0779	6	c.-21 others(17): Show c.-2176_-2175insAATAAT		ASCL4	ENSG00000187855.6	transcript	ENST00000342331.5	protein_coding					1660		chr12	TogoVar
ASF1B_chr19_14114512_14141589	14130787	G G	GTATATA GTATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01256.hp1 HG01258.hp2 others(4): Show HG01123.hp1 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG02723.hp2 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0001t0001 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0002t0002g0035 others(3): Show a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0002t0002g0035 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0004g0192	7	334	0.0210	6	c.110 others(23): Show c.110-4556_110-4551dupTATATA		ASF1B	ENSG00000105011.9	transcript	ENST00000263382.8	protein_coding	1/3						chr19	TogoVar
ASGR1_chr17_7168431_7184370	7175783	T T	TCACACA TCACACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp1 HG02451.hp2 others(2): Show HG02055.hp2 HG02280.hp1 HG02451.hp2 HG02965.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0043 a0001c0001t0005g0088 a0001c0001t0005g0033 a0001c0001t0005g0043 a0001c0001t0005g0088	5	442	0.0113	6	c.355 others(23): Show c.355+1041_355+1046dupTGTGTG		ASGR1	ENSG00000141505.12	transcript	ENST00000269299.8	protein_coding	5/8						chr17	TogoVar
ASGR1_chr17_7168431_7184370	7176553	A A	ACTCACT ACTCACT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp1 HG03540.hp2 HG02109.hp2 HG02647.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0101 a0001c0001t0001g0121 a0001c0001t0002g0120 a0001c0001t0001g0101 a0001c0001t0001g0121 a0001c0001t0002g0120	3	442	0.0068	6	c.355 others(21): Show c.355+276_355+277insAGTGAG		ASGR1	ENSG00000141505.12	transcript	ENST00000269299.8	protein_coding	5/8						chr17	TogoVar
ASGR1_chr17_7168431_7184370	7176792	T T	TCACACA TCACACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG02280.hp1 others(11): Show HG02055.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02630.hp2 HG02818.hp2 HG02965.hp2 HG02970.hp2 HG03139.hp2 HG03471.hp1 HG03579.hp1 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0003t0004	a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0089 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0089 a0001c0001t0001g0154 a0001c0001t0003g0052 a0001c0001t0005g0033 a0001c0001t0005g0043 a0001c0001t0005g0088 a0001c0003t0004g0157	14	442	0.0317	6	c.355 others(19): Show c.355+32_355+37dupTGTGTG		ASGR1	ENSG00000141505.12	transcript	ENST00000269299.8	protein_coding	5/8						chr17	TogoVar
ASGR1_chr17_7168431_7184370	7181824	T T	TTTATTA TTTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02109.hp1 HG02818.hp2 others(5): Show HG01167.hp1 HG02109.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03130.hp2 HG03139.hp1 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0004 a0003c0005t0004 a0001c0003t0004 a0003c0005t0004	a0001c0003t0004g0028 a0001c0003t0004g0156 a0001c0003t0004g0157 others(3): Show a0001c0003t0004g0028 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0158 a0001c0003t0004g0159 a0003c0005t0004g0160	8	442	0.0181	6	c.-26 others(17): Show c.-2661_-2660insTAATAA		ASGR1	ENSG00000141505.12	transcript	ENST00000269299.8	protein_coding					2455		chr17	TogoVar
ASGR2_chr17_7096326_7119822	7097664	A A	ATGTGTG ATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02895.hp2 HG02896.hp2 HG02486.hp2 HG02895.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181	3	432	0.0069	6	c.39 others(17): Show c.3910_*3911insCACACA		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding					3661		chr17	TogoVar
ASGR2_chr17_7096326_7119822	7116869	A A	ATTTTTT ATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(58): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG01081.hp2 HG01106.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01261.hp2 HG01361.hp1 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG02040.hp1 HG02083.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02683.hp1 HG02717.hp1 HG02809.hp2 HG02896.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03490.hp1 HG03492.hp2 NA18522.hp2 NA18612.hp2 NA18940.hp1 NA18941.hp1 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18980.hp1 NA18992.hp2 NA19006.hp2 NA19070.hp2 NA19077.hp2 NA19082.hp1 NA19084.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0002t0004 a0001c0002t0011 a0001c0004t0007	a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0030 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0202 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0286 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0297 a0001c0001t0004g0020 a0001c0001t0004g0303 a0001c0001t0004g0310 a0001c0001t0004g0312 a0001c0001t0006g0104 a0001c0001t0007g0213 a0001c0001t0007g0214 a0001c0001t0008g0279 a0001c0001t0010g0021 a0001c0001t0010g0050 a0001c0001t0010g0318 a0001c0002t0004g0302 a0001c0002t0011g0052 a0001c0004t0007g0205	61	432	0.1412	6	c.-23 others(17): Show c.-2326_-2325insAAAAAA		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding					2048		chr17	TogoVar
ASGR2_chr17_7096326_7119822	7118417	C C	CAACTCA CAACTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02698.hp1 NA18939.hp1 others(4): Show HG02572.hp1 HG02698.hp1 NA18939.hp1 NA18952.hp1 NA18962.hp2 NA19012.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0007 a0001c0001t0001 a0001c0003t0001 a0001c0004t0007	a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0003t0001g0012 others(3): Show a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0003t0001g0012 a0001c0003t0001g0190 a0001c0003t0001g0209 a0001c0004t0007g0207	7	432	0.0162	6	c.-38 others(17): Show c.-3874_-3873insTGAGTT		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding					3596		chr17	TogoVar
ASH1L_chr1_155330268_155567803	155332458	G G	GTATATA GTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01975.hp1 HG03942.hp2 others(2): Show HG00140.hp2 HG01975.hp1 HG03942.hp2 NA19012.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0073 a0001c0001t0001g0079 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0140	5	182	0.0275	6	c.52 others(17): Show c.5201_*5202insTATATA		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding					2809		chr1	TogoVar
ASH1L_chr1_155330268_155567803	155336360	T T	TACACAC TACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18970.hp1 NA19011.hp2 NA18970.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0040 a0001c0001t0008g0137 a0001c0001t0008g0040 a0001c0001t0008g0137	2	182	0.0110	6	c.12 others(17): Show c.1294_*1299dupGTGTGT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	28/28				1299		chr1	TogoVar
ASH1L_chr1_155330268_155567803	155336360	T T	TATACAC TATACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02895.hp2 HG02897.hp2 HG02109.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012	3	182	0.0165	6	c.12 others(17): Show c.1299_*1300insGTGTAT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	28/28				1299		chr1	TogoVar
ASH1L_chr1_155330268_155567803	155348911	T T	TATACAC TATACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp2 HG02818.hp1 others(3): Show HG02257.hp2 HG02723.hp2 HG02818.hp1 HG02965.hp1 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0102 others(3): Show a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0025g0182	6	182	0.0330	6	c.755 others(23): Show c.7554+415_7554+416insGTGTAT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	19/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155348911	T T	TATATAC TATATAC	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19090.hp2 NA19067.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0072 a0001c0001t0022g0113 a0001c0001t0001g0072 a0001c0001t0022g0113	2	182	0.0110	6	c.755 others(23): Show c.7554+415_7554+416insGTATAT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	19/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155357078	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01952.hp1 HG01975.hp1 others(6): Show HG01109.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02293.hp1 HG03017.hp2 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 others(6): Show a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0090 a0001c0001t0001g0122 a0001c0001t0001g0181 a0001c0001t0021g0042	9	182	0.0495	6	c.705 others(23): Show c.7055+232_7055+237dupGTGTGT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	15/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATATAT AATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG03453.hp1 others(3): Show HG02258.hp2 HG02818.hp2 HG03453.hp1 HG03486.hp2 NA18951.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0002 a0001c0001t0001 a0001c0008t0002	a0001c0001t0001g0024 a0001c0001t0001g0062 a0001c0001t0001g0068 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0008t0002g0168	6	182	0.0330	6	c.600 others(25): Show c.6008+4152_6008+4157dupATATAT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155490614	T T	TCACACA TCACACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG00639.hp2 others(55): Show HG00280.hp1 HG00621.hp2 HG00639.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01261.hp2 HG01516.hp2 HG01891.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02074.hp1 HG02083.hp1 HG02145.hp1 HG02293.hp2 HG02559.hp1 HG02717.hp1 HG02970.hp2 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03688.hp2 HG03834.hp1 HG04199.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18977.hp1 NA18979.hp1 NA18985.hp1 NA18985.hp2 NA19002.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19057.hp2 NA19067.hp1 NA19068.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0016 a0001c0001 a0001c0009 a0001c0016	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0024 a0001c0009t0015 a0001c0016t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(55): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0008g0040 a0001c0001t0008g0137 a0001c0001t0010g0001 a0001c0001t0012g0003 a0001c0001t0018g0144 a0001c0001t0024g0169 a0001c0009t0015g0009 a0001c0016t0001g0138	58	182	0.3187	6	c.421 others(23): Show c.421-8171_421-8166dupTGTGTG		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	2/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155538024	T T	TTTTTTA TTTTTTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02895.hp2 HG02897.hp2 HG02109.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012	3	182	0.0165	6	c.-99 others(25): Show c.-99-16412_-99-16407dupTAAAAA		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	1/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155555840	C C	CTATATA CTATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18951.hp1 NA19056.hp1 HG02129.hp2 NA18951.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0023g0159 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0023g0159	3	182	0.0165	6	c.-10 others(25): Show c.-100+6312_-100+6313insTATATA		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	1/27						chr1	TogoVar
ASH2L_chr8_38100529_38145080	38107868	A A	ATGTGTG ATGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01243.hp2 HG01256.hp1 others(18): Show HG00438.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG02040.hp1 HG02257.hp1 HG02922.hp2 HG02970.hp1 HG03540.hp2 HG04204.hp1 NA18952.hp1 NA18969.hp1 NA18973.hp2 NA18980.hp1 NA18984.hp2 NA19030.hp1 NA19075.hp1 NA19083.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0007 a0001c0001 a0001c0003 a0004c0007	a0001c0001t0001 a0001c0003t0001 a0004c0007t0001 a0001c0001t0001 a0001c0003t0001 a0004c0007t0001	a0001c0001t0001g0019 a0001c0001t0001g0226 a0001c0001t0001g0227 others(18): Show a0001c0001t0001g0019 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0003t0001g0225 a0004c0007t0001g0234 a0004c0007t0001g0239	21	330	0.0636	6	c.401 others(21): Show c.401+734_401+739dupGTGTGT		ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
ASH2L_chr8_38100529_38145080	38121333	T T	TTATTTA TTATTTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG01891.hp2 others(4): Show HG00408.hp1 HG00597.hp1 HG01891.hp2 HG03225.hp1 NA18969.hp2 NA19065.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0042 others(4): Show a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0002t0001g0268 a0001c0002t0001g0273 a0001c0002t0001g0282	7	330	0.0212	6	c.116 others(23): Show c.1165+187_1165+188insTTATAT		ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
ASH2L_chr8_38100529_38145080	38142491	A A	ATGTGTG ATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02451.hp1 NA18969.hp1 HG00423.hp2 HG02451.hp1 NA18969.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0075 a0001c0001t0001g0235 a0002c0006t0001g0303 a0001c0001t0001g0075 a0001c0001t0001g0235 a0002c0006t0001g0303	3	330	0.0091	6	c.34 others(17): Show c.3420_*3421insTGTGTG		ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding					2412		chr8	TogoVar
ASIC1_chr12_50052596_50088611	50074860	C C	CTGTGTG CTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01934.hp1 HG02486.hp2 others(5): Show HG00438.hp2 HG01934.hp1 HG02486.hp2 NA18959.hp1 NA18962.hp2 NA18994.hp2 NA18995.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0001	a0001c0001t0002g0032 a0001c0002t0002g0022 a0001c0002t0002g0162 others(2): Show a0001c0001t0002g0032 a0001c0002t0002g0022 a0001c0002t0002g0162 a0001c0002t0002g0164 a0001c0003t0001g0069	8	324	0.0247	6	c.559 others(23): Show c.559-2311_559-2306dupGTGTGT		ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
ASIC2_chr17_33008087_33298295	33008607	T T	TAAAAAC TAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01346.hp1 HG01884.hp2 others(3): Show HG01109.hp1 HG01346.hp1 HG01884.hp2 HG02257.hp1 HG03130.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0009 a0001c0001t0024 a0001c0002t0005 others(3): Show a0001c0001t0009 a0001c0001t0024 a0001c0002t0005 a0001c0002t0015 a0001c0002t0029 a0001c0004t0005	a0001c0001t0009g0075 a0001c0001t0024g0085 a0001c0002t0005g0108 others(3): Show a0001c0001t0009g0075 a0001c0001t0024g0085 a0001c0002t0005g0108 a0001c0002t0015g0090 a0001c0002t0029g0104 a0001c0004t0005g0144	6	240	0.0250	6	c.53 others(17): Show c.5357_*5358insGTTTTT		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding					4479		chr17	TogoVar
ASIC2_chr17_33008087_33298295	33087575	G G	GTTTTTT GTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02055.hp2 HG02896.hp1 others(4): Show HG01192.hp1 HG02055.hp2 HG02896.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0035 a0001c0002t0005 a0001c0004t0001 a0002c0003t0017	a0001c0001t0003g0015 a0001c0001t0004g0074 a0001c0001t0007g0224 others(4): Show a0001c0001t0003g0015 a0001c0001t0004g0074 a0001c0001t0007g0224 a0001c0001t0035g0226 a0001c0002t0005g0102 a0001c0004t0001g0167 a0002c0003t0017g0206	7	240	0.0292	6	c.987 others(23): Show c.987+1282_987+1287dupAAAAAA		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	3/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33150849	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00741.hp1 others(8): Show HG00438.hp2 HG00597.hp2 HG00741.hp1 HG01175.hp2 HG01243.hp2 HG02129.hp2 HG02572.hp1 HG02723.hp1 HG04115.hp1 NA18999.hp2 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0008	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0002t0002 a0001c0004t0004 a0002c0003t0001 a0002c0003t0010 a0003c0008t0004	a0001c0001t0003g0038 a0001c0001t0003g0076 a0001c0001t0003g0077 others(8): Show a0001c0001t0003g0038 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0004g0062 a0001c0001t0007g0237 a0001c0001t0009g0073 a0001c0002t0002g0113 a0001c0004t0004g0008 a0002c0003t0001g0219 a0002c0003t0010g0207 a0003c0008t0004g0037	11	240	0.0458	6	c.709 others(25): Show c.709-38788_709-38783dupTTTTTT		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33164576	G G	GCACACA GCACACA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02922.hp2 HG03209.hp1 others(1): Show HG01433.hp1 HG02922.hp2 HG03209.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0002t0002	a0001c0001t0004g0063 a0001c0001t0006g0026 a0001c0001t0009g0075 others(1): Show a0001c0001t0004g0063 a0001c0001t0006g0026 a0001c0001t0009g0075 a0001c0002t0002g0098	4	240	0.0167	6	c.709 others(25): Show c.709-52515_709-52510dupTGTGTG		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33282479	G G	GTGTGCT GTGTGCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00621.hp1 others(38): Show HG00423.hp1 HG00438.hp1 HG00621.hp1 HG00741.hp1 HG01175.hp1 HG01258.hp2 HG01515.hp1 HG01517.hp2 HG02015.hp1 HG02257.hp2 HG02717.hp1 HG02738.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp1 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18947.hp2 NA18968.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp2 NA18990.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp2 NA19030.hp2 NA19057.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19081.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 others(9): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0002t0001 a0001c0004t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0010 a0002c0003t0017 a0002c0003t0018 a0002c0003t0030	a0001c0001t0003g0044 a0001c0001t0003g0076 a0001c0001t0004g0009 others(38): Show a0001c0001t0003g0044 a0001c0001t0003g0076 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0011g0002 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0002t0001g0112 a0001c0004t0001g0159 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0190 a0002c0003t0001g0192 a0002c0003t0001g0198 a0002c0003t0001g0199 a0002c0003t0001g0200 a0002c0003t0001g0202 a0002c0003t0001g0208 a0002c0003t0001g0209 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0215 a0002c0003t0001g0218 a0002c0003t0001g0219 a0002c0003t0002g0178 a0002c0003t0002g0179 a0002c0003t0002g0180 a0002c0003t0002g0186 a0002c0003t0002g0189 a0002c0003t0002g0191 a0002c0003t0002g0193 a0002c0003t0002g0194 a0002c0003t0002g0201 a0002c0003t0002g0204 a0002c0003t0002g0214 a0002c0003t0005g0221 a0002c0003t0010g0207 a0002c0003t0017g0206 a0002c0003t0018g0185 a0002c0003t0018g0203 a0002c0003t0030g0220	41	240	0.1708	6	c.708 others(23): Show c.708+8928_708+8929insAGCACA		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33288715	G G	GACACAC GACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01243.hp2 others(3): Show HG01070.hp1 HG01071.hp2 HG01243.hp2 HG02258.hp2 HG02717.hp1 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0002t0002 a0002c0003t0001	a0001c0001t0003g0056 a0001c0001t0006g0057 a0001c0001t0007g0237 others(3): Show a0001c0001t0003g0056 a0001c0001t0006g0057 a0001c0001t0007g0237 a0001c0002t0002g0100 a0002c0003t0001g0211 a0002c0003t0001g0212	6	240	0.0250	6	c.708 others(23): Show c.708+2687_708+2692dupGTGTGT		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC4_chr2_219509482_219543772	219530386	A A	AGAAGCC AGAAGCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp1 HG03130.hp2 HG02717.hp1 HG02723.hp1 HG03130.hp2	a0002 a0006 a0008 a0002 a0006 a0008	a0002c0007 a0006c0017 a0008c0016 a0002c0007 a0006c0017 a0008c0016	a0002c0007t0001 a0006c0017t0001 a0008c0016t0001 a0002c0007t0001 a0006c0017t0001 a0008c0016t0001	a0002c0007t0001g0223 a0006c0017t0001g0225 a0008c0016t0001g0224 a0002c0007t0001g0223 a0006c0017t0001g0225 a0008c0016t0001g0224	3	372	0.0081	6	c.583 others(23): Show c.583-1372_583-1371insGAAGCC		ASIC4	ENSG00000072182.14	transcript	ENST00000358078.5	protein_coding	1/9						chr2	TogoVar
ASIC5_chr4_155824729_155871277	155839348	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp2 HG03516.hp1 others(7): Show HG02886.hp1 HG03130.hp2 HG03516.hp1 HG03688.hp1 HG03710.hp2 NA18906.hp2 NA18956.hp1 NA18990.hp2 NA18991.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0003 a0001c0002t0003 a0001c0003t0003	a0001c0002t0003g0025 a0001c0003t0003g0031 a0001c0003t0003g0032 others(4): Show a0001c0002t0003g0025 a0001c0003t0003g0031 a0001c0003t0003g0032 a0001c0003t0003g0066 a0001c0003t0003g0071 a0001c0003t0003g0074 a0001c0003t0003g0075	10	334	0.0299	6	c.101 others(23): Show c.1010-485_1010-480dupGTGTGT		ASIC5	ENSG00000256394.3	transcript	ENST00000537611.3	protein_coding	6/9						chr4	TogoVar
ASL_chr7_66070819_66098576	66087243	C C	CGTGTGT CGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01169.hp1 others(10): Show HG00544.hp1 HG00544.hp2 HG01169.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02135.hp2 HG02622.hp2 HG02818.hp2 HG03654.hp1 NA18970.hp2 NA19064.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0069 a0001c0001t0001g0070	13	316	0.0411	6	c.603 others(19): Show c.603-56_603-51dupGTGTGT		ASL	ENSG00000126522.17	transcript	ENST00000304874.14	protein_coding	8/16					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASMTL_chrX_1398139_1457909	1420039	G G	GTCTCTA GTCTCTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp1 others(19): Show HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00735.hp2 HG01346.hp2 HG01358.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02165.hp1 HG02683.hp1 HG02922.hp1 HG03041.hp1 HG03669.hp1 HG04184.hp1 NA18906.hp1 NA18955.hp1 NA18961.hp1 NA18963.hp1 NA19064.hp2 NA19240.hp2 NA21309.hp2	a0000 a0001 a0004 others(5): Show a0000 a0001 a0004 a0005 a0007 a0010 a0016 a0017	a0000c0039 a0001c0013 a0004c0006 others(6): Show a0000c0039 a0001c0013 a0004c0006 a0004c0010 a0005c0027 a0007c0017 a0010c0041 a0016c0028 a0017c0022	a0000c0039t0001 a0001c0013t0001 a0004c0006t0001 others(6): Show a0000c0039t0001 a0001c0013t0001 a0004c0006t0001 a0004c0010t0001 a0005c0027t0001 a0007c0017t0001 a0010c0041t0001 a0016c0028t0001 a0017c0022t0001	a0000c0039t0001g0148 a0001c0013t0001g0068 a0001c0013t0001g0164 others(19): Show a0000c0039t0001g0148 a0001c0013t0001g0068 a0001c0013t0001g0164 a0004c0006t0001g0007 a0004c0006t0001g0016 a0004c0006t0001g0025 a0004c0006t0001g0058 a0004c0006t0001g0059 a0004c0006t0001g0084 a0004c0006t0001g0102 a0004c0006t0001g0133 a0004c0006t0001g0135 a0004c0010t0001g0029 a0004c0010t0001g0082 a0004c0010t0001g0123 a0004c0010t0001g0125 a0005c0027t0001g0175 a0007c0017t0001g0167 a0007c0017t0001g0168 a0010c0041t0001g0161 a0016c0028t0001g0160 a0017c0022t0001g0017	22	185	0.1189	6	c.124 others(23): Show c.1246-931_1246-926dupTAGAGA		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	9/12						chrX	TogoVar
ASMT_chrX_1610059_1648081	1619549	T T	TATAATA TATAATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01070.hp2 HG01517.hp2 others(27): Show HG00639.hp1 HG01070.hp2 HG01517.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG03453.hp1 HG03516.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18969.hp1 NA18974.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA19064.hp2 NA19072.hp2 NA19081.hp2 NA19240.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0010 a0011	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0002c0010 a0006c0011 a0010c0015 a0011c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0002c0010t0001 a0006c0011t0001 a0010c0015t0002 a0011c0008t0001	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0046 others(27): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0002g0168 a0001c0001t0002g0195 a0001c0003t0001g0030 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0219 a0001c0003t0002g0155 a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0042 a0002c0002t0001g0054 a0002c0002t0001g0085 a0002c0002t0001g0175 a0002c0002t0001g0189 a0002c0002t0001g0221 a0002c0002t0002g0159 a0002c0002t0002g0191 a0002c0006t0001g0104 a0002c0010t0001g0010 a0006c0011t0001g0139 a0010c0015t0002g0179 a0011c0008t0001g0034	30	223	0.1345	6	c.70- others(21): Show c.70-3555_70-3550dupTAATAA		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1625954	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01346.hp2 HG02004.hp1 others(7): Show HG01175.hp1 HG01346.hp2 HG02004.hp1 HG02273.hp1 HG02523.hp1 HG02602.hp2 HG03704.hp1 NA18947.hp2 NA18974.hp1 NA19081.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0013c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0002c0002t0001 a0013c0017t0001	a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0002g0152 others(7): Show a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0002g0152 a0001c0001t0002g0164 a0001c0001t0005g0165 a0001c0003t0001g0023 a0002c0002t0001g0031 a0002c0002t0001g0054 a0002c0002t0001g0085 a0013c0017t0001g0111	10	223	0.0448	6	c.374 others(23): Show c.374+1570_374+1575dupAAAAAA		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)