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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CEP97_chr3_101719614_101775562	101723375	C C	CATATATA CATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02615.hp2 others(8): Show HG01884.hp2 HG02145.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp2 HG03098.hp1 HG03225.hp1 HG03453.hp2 HG03688.hp1 NA19062.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0010 a0001c0001 a0010c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0010c0010t0001	a0001c0001t0001g0108 a0001c0001t0002g0177 a0001c0001t0007g0012 others(7): Show a0001c0001t0001g0108 a0001c0001t0002g0177 a0001c0001t0007g0012 a0001c0001t0007g0105 a0001c0001t0007g0106 a0001c0001t0007g0107 a0001c0001t0007g0113 a0001c0001t0013g0109 a0001c0001t0013g0110 a0010c0010t0001g0248	11	352	0.0313	7	c.-13 others(18): Show c.-1302_-1301insATATATA	CEP97	ENSG00000182504.12	transcript	ENST00000341893.8	protein_coding		1238		chr3	TogoVar
CEP97_chr3_101719614_101775562	101723399	C C	CATATATA CATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG03195.hp1 NA18522.hp2 HG02280.hp1 HG03195.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0304 a0001c0001t0004g0013 a0001c0001t0004g0304	3	352	0.0085	7	c.-12 others(18): Show c.-1278_-1277insATATATA	CEP97	ENSG00000182504.12	transcript	ENST00000341893.8	protein_coding		1214		chr3	TogoVar
CERKL_chr2_181531672_181662105	181572780	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(130): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02738.hp2 HG02818.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18979.hp1 NA18982.hp2 NA18986.hp1 NA18990.hp1 NA18995.hp1 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19056.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0010 others(11): Show a0001c0001 a0001c0002 a0001c0010 a0001c0014 a0002c0003 a0002c0004 a0002c0009 a0003c0005 a0004c0007 a0005c0008 a0006c0012 a0007c0015 a0008c0017 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0021 a0001c0001t0026 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0025 a0001c0010t0001 a0001c0014t0001 a0002c0003t0001 a0002c0003t0004 a0002c0003t0007 a0002c0003t0009 a0002c0003t0011 a0002c0003t0027 a0002c0004t0001 a0002c0004t0004 a0002c0004t0011 a0002c0004t0016 a0002c0009t0004 a0003c0005t0008 a0004c0007t0008 a0005c0008t0001 a0006c0012t0001 a0007c0015t0001 a0008c0017t0001 a0009c0013t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0169 others(128): Show a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0002g0281 a0001c0001t0007g0143 a0001c0001t0021g0183 a0001c0001t0026g0265 a0001c0002t0001g0015 a0001c0002t0001g0025 a0001c0002t0001g0029 a0001c0002t0001g0037 a0001c0002t0001g0046 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0132 a0001c0002t0003g0027 a0001c0002t0005g0003 a0001c0002t0005g0054 a0001c0002t0005g0058 a0001c0002t0025g0019 a0001c0010t0001g0007 a0001c0014t0001g0055 a0002c0003t0001g0103 a0002c0003t0004g0004 a0002c0003t0004g0013 a0002c0003t0004g0095 a0002c0003t0004g0099 a0002c0003t0004g0101 a0002c0003t0004g0102 a0002c0003t0004g0105 a0002c0003t0004g0107 a0002c0003t0004g0109 a0002c0003t0004g0111 a0002c0003t0004g0112 a0002c0003t0004g0113 a0002c0003t0004g0115 a0002c0003t0004g0117 a0002c0003t0004g0118 a0002c0003t0004g0119 a0002c0003t0004g0126 a0002c0003t0004g0139 a0002c0003t0007g0135 a0002c0003t0007g0136 a0002c0003t0009g0104 a0002c0003t0009g0110 a0002c0003t0009g0120 a0002c0003t0011g0023 a0002c0003t0011g0024 a0002c0003t0027g0114 a0002c0004t0001g0147 a0002c0004t0004g0166 a0002c0004t0004g0167 a0002c0004t0004g0180 a0002c0004t0004g0186 a0002c0004t0004g0191 a0002c0004t0004g0207 a0002c0004t0004g0225 a0002c0004t0004g0240 a0002c0004t0004g0241 a0002c0004t0004g0242 a0002c0004t0004g0245 a0002c0004t0004g0247 a0002c0004t0004g0248 a0002c0004t0004g0258 a0002c0004t0004g0262 a0002c0004t0004g0263 a0002c0004t0004g0264 a0002c0004t0004g0266 a0002c0004t0004g0267 a0002c0004t0011g0246 a0002c0004t0016g0005 a0002c0009t0004g0006 a0003c0005t0008g0130 a0003c0005t0008g0131 a0004c0007t0008g0069 a0004c0007t0008g0093 a0005c0008t0001g0016 a0005c0008t0001g0017 a0006c0012t0001g0009 a0007c0015t0001g0053 a0008c0017t0001g0285 a0009c0013t0001g0047	133	298	0.4463	7	c.613 others(22): Show c.613+966_613+972dupAAAAAAA	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	3/12			chr2	TogoVar
CERKL_chr2_181531672_181662105	181609533	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp1 HG01516.hp1 others(6): Show HG00140.hp2 HG01070.hp1 HG01516.hp1 HG03491.hp2 NA18962.hp1 NA18964.hp1 NA18969.hp1 NA19003.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0002t0003	a0001c0001t0001g0153 a0001c0001t0002g0164 a0001c0001t0002g0181 others(6): Show a0001c0001t0001g0153 a0001c0001t0002g0164 a0001c0001t0002g0181 a0001c0001t0002g0211 a0001c0001t0002g0271 a0001c0001t0003g0172 a0001c0001t0003g0292 a0001c0001t0012g0188 a0001c0002t0003g0035	9	298	0.0302	7	c.239 others(24): Show c.239-5461_239-5455dupTTTTTTT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERK_chr22_46679410_46743252	46727449	C C	CTTTCTTT CTTTCTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18941.hp2 NA18961.hp2 others(3): Show HG02083.hp2 NA18941.hp2 NA18961.hp2 NA19067.hp1 NA19068.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0007 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0002t0002 a0001c0003t0002	a0001c0001t0002g0182 a0001c0001t0007g0175 a0001c0002t0002g0174 others(3): Show a0001c0001t0002g0182 a0001c0001t0007g0175 a0001c0002t0002g0174 a0001c0002t0002g0284 a0001c0003t0002g0172 a0001c0003t0002g0180	6	340	0.0177	7	c.143 others(24): Show c.143-6435_143-6434insAAAGAAA	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding	1/12			chr22	TogoVar
CERK_chr22_46679410_46743252	46738250	G G	GGCGGGCT GGCGGGCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(171): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19076.hp1 NA19088.hp1 NA19090.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0008 a0011	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0018 a0001c0019 a0001c0024 a0001c0028 a0001c0031 a0001c0032 a0001c0038 a0002c0006 a0004c0014 a0004c0021 a0005c0015 a0008c0023 a0011c0039	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(50): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0002t0001 a0001c0002t0035 a0001c0002t0036 a0001c0003t0003 a0001c0003t0010 a0001c0004t0005 a0001c0004t0020 a0001c0004t0025 a0001c0005t0003 a0001c0005t0021 a0001c0005t0041 a0001c0007t0008 a0001c0008t0005 a0001c0009t0020 a0001c0009t0047 a0001c0010t0048 a0001c0013t0008 a0001c0018t0005 a0001c0019t0010 a0001c0024t0023 a0001c0028t0005 a0001c0031t0001 a0001c0032t0004 a0001c0038t0005 a0002c0006t0005 a0002c0006t0015 a0002c0006t0039 a0004c0014t0003 a0004c0014t0005 a0004c0021t0005 a0005c0015t0005 a0008c0023t0001 a0011c0039t0008	a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0021 others(163): Show a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0039 a0001c0001t0003g0073 a0001c0001t0003g0096 a0001c0001t0003g0100 a0001c0001t0003g0107 a0001c0001t0003g0112 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0130 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0071 a0001c0001t0004g0077 a0001c0001t0004g0092 a0001c0001t0004g0101 a0001c0001t0004g0108 a0001c0001t0004g0115 a0001c0001t0004g0118 a0001c0001t0004g0137 a0001c0001t0004g0139 a0001c0001t0004g0144 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0005g0015 a0001c0001t0005g0051 a0001c0001t0005g0078 a0001c0001t0005g0097 a0001c0001t0005g0098 a0001c0001t0008g0026 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0036 a0001c0001t0008g0037 a0001c0001t0008g0043 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0010g0001 a0001c0001t0010g0005 a0001c0001t0010g0052 a0001c0001t0010g0058 a0001c0001t0010g0061 a0001c0001t0019g0022 a0001c0001t0019g0023 a0001c0001t0019g0024 a0001c0001t0019g0025 a0001c0001t0022g0004 a0001c0001t0022g0066 a0001c0001t0023g0044 a0001c0001t0023g0117 a0001c0001t0024g0045 a0001c0001t0024g0054 a0001c0001t0024g0140 a0001c0001t0028g0088 a0001c0001t0028g0089 a0001c0001t0037g0119 a0001c0001t0038g0102 a0001c0001t0040g0040 a0001c0001t0042g0131 a0001c0001t0043g0032 a0001c0001t0044g0067 a0001c0001t0045g0111 a0001c0001t0046g0125 a0001c0001t0049g0169 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0074 a0001c0002t0001g0081 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0094 a0001c0002t0001g0106 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0035g0042 a0001c0002t0036g0070 a0001c0003t0003g0027 a0001c0003t0003g0033 a0001c0003t0003g0129 a0001c0003t0010g0059 a0001c0004t0005g0105 a0001c0004t0005g0128 a0001c0004t0020g0041 a0001c0004t0025g0069 a0001c0004t0025g0132 a0001c0004t0025g0138 a0001c0005t0003g0157 a0001c0005t0003g0159 a0001c0005t0003g0161 a0001c0005t0003g0167 a0001c0005t0003g0168 a0001c0005t0021g0006 a0001c0005t0021g0165 a0001c0005t0041g0166 a0001c0007t0008g0038 a0001c0008t0005g0151 a0001c0009t0020g0158 a0001c0009t0020g0162 a0001c0009t0020g0163 a0001c0009t0047g0164 a0001c0010t0048g0084 a0001c0013t0008g0153 a0001c0013t0008g0154 a0001c0013t0008g0156 a0001c0018t0005g0028 a0001c0019t0010g0030 a0001c0019t0010g0031 a0001c0024t0023g0093 a0001c0028t0005g0029 a0001c0031t0001g0147 a0001c0032t0004g0134 a0001c0038t0005g0160 a0002c0006t0005g0062 a0002c0006t0015g0002 a0002c0006t0015g0057 a0002c0006t0015g0080 a0002c0006t0039g0127 a0004c0014t0003g0010 a0004c0014t0005g0012 a0004c0021t0005g0011 a0005c0015t0005g0123 a0005c0015t0005g0136 a0008c0023t0001g0072 a0011c0039t0008g0155	174	340	0.5118	7	c.-10 others(16): Show c.-103_-102insAGCCCGC	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding	1/13	103		chr22	TogoVar
CERS1_chr19_18863545_18901158	18872699	A A	ATATTTAG ATATTTAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(167): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00735.hp1 HG00738.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp2 NA18945.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19087.hp2 NA19089.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0002t0001 a0001c0003t0001 a0001c0003t0011 a0001c0003t0012 a0001c0003t0013 a0001c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 others(148): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0108 a0001c0001t0004g0112 a0001c0001t0004g0122 a0001c0001t0014g0050 a0001c0002t0001g0011 a0001c0002t0001g0027 a0001c0002t0001g0226 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0262 a0001c0002t0001g0271 a0001c0002t0001g0293 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0311 a0001c0002t0001g0314 a0001c0002t0001g0317 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0327 a0001c0003t0001g0003 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0178 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0219 a0001c0003t0001g0223 a0001c0003t0011g0224 a0001c0003t0012g0179 a0001c0003t0013g0192 a0001c0007t0001g0227	170	380	0.4474	7	c.101 others(26): Show c.1011-2081_1011-2080insCTAAATA	CERS1	ENSG00000223802.9	transcript	ENST00000623882.4	protein_coding	6/7			chr19	TogoVar
CERS3_chr15_100395395_100533950	100454387	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00544.hp1 others(62): Show HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp2 HG00639.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02258.hp1 HG02273.hp1 HG02698.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03195.hp2 HG03239.hp2 HG03491.hp1 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp1 NA18951.hp2 NA18959.hp1 NA18966.hp1 NA18969.hp1 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18994.hp1 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19054.hp1 NA19063.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19083.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0020 a0001c0001t0021 a0001c0001t0038 a0001c0003t0005 a0001c0006t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0020	a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0118 others(61): Show a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0300 a0001c0001t0003g0032 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0296 a0001c0001t0008g0001 a0001c0001t0008g0034 a0001c0001t0008g0308 a0001c0001t0020g0248 a0001c0001t0021g0345 a0001c0001t0038g0346 a0001c0003t0005g0324 a0001c0003t0005g0325 a0001c0003t0005g0326 a0001c0003t0005g0327 a0001c0003t0005g0328 a0001c0003t0005g0330 a0001c0003t0005g0334 a0001c0003t0005g0335 a0001c0003t0005g0338 a0001c0006t0003g0159 a0001c0006t0003g0160 a0001c0006t0003g0186 a0002c0002t0001g0049 a0002c0002t0001g0053 a0002c0002t0003g0050 a0002c0002t0003g0052 a0002c0002t0003g0056 a0002c0002t0020g0051	65	362	0.1796	7	c.999 others(24): Show c.999+1499_999+1505dupTTTTTTT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	11/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100483787	A A	ATTATTTT ATTATTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01069.hp1 others(4): Show HG00323.hp2 HG00735.hp2 HG01069.hp1 HG02572.hp1 HG03225.hp1 HG03927.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0007 a0001c0003t0010 others(1): Show a0001c0001t0001 a0001c0003t0007 a0001c0003t0010 a0001c0003t0040	a0001c0001t0001g0141 a0001c0003t0007g0358 a0001c0003t0007g0361 others(4): Show a0001c0001t0001g0141 a0001c0003t0007g0358 a0001c0003t0007g0361 a0001c0003t0010g0341 a0001c0003t0010g0342 a0001c0003t0010g0343 a0001c0003t0040g0319	7	362	0.0193	7	c.407 others(22): Show c.407+762_407+763insAAAATAA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	5/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100483787	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp1 HG01884.hp1 others(3): Show HG00642.hp2 HG01074.hp1 HG01884.hp1 HG01975.hp1 HG02559.hp1 NA18945.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0012 a0001c0001 a0001c0003 a0002c0012	a0001c0001t0001 a0001c0003t0007 a0001c0003t0010 others(2): Show a0001c0001t0001 a0001c0003t0007 a0001c0003t0010 a0001c0003t0022 a0002c0012t0004	a0001c0001t0001g0202 a0001c0003t0007g0357 a0001c0003t0007g0359 others(3): Show a0001c0001t0001g0202 a0001c0003t0007g0357 a0001c0003t0007g0359 a0001c0003t0010g0340 a0001c0003t0022g0360 a0002c0012t0004g0054	6	362	0.0166	7	c.407 others(22): Show c.407+756_407+762dupAAAAAAA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	5/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100506470	C C	CCCCCCCG CCCCCCCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02486.hp1 others(5): Show HG01243.hp2 HG02109.hp1 HG02486.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 NA18906.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0032 a0002c0002t0033 others(1): Show a0002c0002t0009 a0002c0002t0032 a0002c0002t0033 a0002c0002t0034	a0002c0002t0009g0312 a0002c0002t0009g0313 a0002c0002t0009g0316 others(5): Show a0002c0002t0009g0312 a0002c0002t0009g0313 a0002c0002t0009g0316 a0002c0002t0009g0317 a0002c0002t0009g0318 a0002c0002t0032g0315 a0002c0002t0033g0309 a0002c0002t0034g0314	8	362	0.0221	7	c.-1- others(22): Show c.-1-4621_-1-4620insCGGGGGG	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	2/11			chr15	TogoVar
CERS4_chr19_8204370_8267421	8249587	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG00735.hp1 others(26): Show HG00438.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01175.hp2 HG01346.hp2 HG01952.hp1 HG02074.hp2 HG02109.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18946.hp2 NA18964.hp2 NA18977.hp2 NA18985.hp1 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19077.hp1 NA19085.hp1 NA19090.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0008 a0002c0003 others(2): Show a0001c0001 a0001c0008 a0002c0003 a0003c0007 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0008t0003 a0002c0003t0001 a0003c0007t0003 a0004c0005t0008	a0001c0001t0001g0205 a0001c0001t0002g0218 a0001c0001t0002g0221 others(26): Show a0001c0001t0001g0205 a0001c0001t0002g0218 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0243 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0330 a0001c0001t0002g0338 a0001c0001t0002g0345 a0001c0001t0002g0358 a0001c0001t0002g0364 a0001c0001t0002g0370 a0001c0001t0002g0378 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0022 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0161 a0001c0001t0003g0313 a0001c0001t0005g0096 a0001c0001t0006g0379 a0001c0001t0016g0094 a0001c0008t0003g0250 a0002c0003t0001g0185 a0002c0003t0001g0216 a0003c0007t0003g0128 a0004c0005t0008g0160	29	418	0.0694	7	c.-1- others(22): Show c.-1-1473_-1-1467dupTTTTTTT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8260950	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02071.hp2 NA18943.hp1 others(7): Show HG01346.hp2 HG02071.hp2 NA18943.hp1 NA18973.hp2 NA18984.hp1 NA18988.hp1 NA18997.hp1 NA19000.hp2 NA19007.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0021	a0001c0001t0006 a0001c0002t0005 a0001c0002t0006 others(3): Show a0001c0001t0006 a0001c0002t0005 a0001c0002t0006 a0001c0006t0005 a0001c0006t0006 a0001c0021t0005	a0001c0001t0006g0379 a0001c0002t0005g0084 a0001c0002t0006g0342 others(7): Show a0001c0001t0006g0379 a0001c0002t0005g0084 a0001c0002t0006g0342 a0001c0006t0005g0180 a0001c0006t0005g0193 a0001c0006t0006g0261 a0001c0006t0006g0264 a0001c0006t0006g0266 a0001c0006t0006g0271 a0001c0021t0005g0189	10	418	0.0239	7	c.849 others(22): Show c.849-717_849-711dupAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS5_chr12_50124289_50172369	50134071	G G	GAAAAAAA GAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp2 HG01123.hp2 others(44): Show HG00733.hp1 HG00735.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG02040.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02735.hp2 HG02818.hp2 HG02922.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA19043.hp1 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0162 a0001c0001t0005g0011 a0001c0001t0005g0020 others(43): Show a0001c0001t0001g0162 a0001c0001t0005g0011 a0001c0001t0005g0020 a0001c0001t0006g0196 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0006g0200 a0001c0001t0008g0003 a0001c0001t0008g0314 a0001c0001t0008g0315 a0001c0001t0008g0316 a0001c0002t0001g0234 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0237 a0001c0002t0002g0239 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0290	47	320	0.1469	7	c.102 others(24): Show c.1029+468_1029+474dupTTTTTTT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	9/9			chr12	TogoVar
CERS6_chr2_168451272_168780134	168662127	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG02630.hp2 others(5): Show HG02145.hp1 HG02559.hp1 HG02630.hp2 HG02818.hp1 HG02886.hp2 NA19030.hp2 NA19076.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0019	a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0003g0006 others(5): Show a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0107 a0001c0001t0004g0047 a0001c0001t0010g0144 a0001c0001t0019g0163	8	176	0.0455	7	c.466 others(26): Show c.466-28898_466-28892dupTTTTTTT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CES5A_chr16_55841154_55880373	55854544	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02615.hp2 HG02717.hp2 others(5): Show HG02165.hp2 HG02615.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03195.hp1	a0001 a0008 a0011 others(1): Show a0001 a0008 a0011 a0012	a0001c0002 a0008c0009 a0011c0047 others(1): Show a0001c0002 a0008c0009 a0011c0047 a0012c0014	a0001c0002t0005 a0008c0009t0004 a0008c0009t0006 others(2): Show a0001c0002t0005 a0008c0009t0004 a0008c0009t0006 a0011c0047t0002 a0012c0014t0002	a0001c0002t0005g0186 a0008c0009t0004g0101 a0008c0009t0006g0018 others(4): Show a0001c0002t0005g0186 a0008c0009t0004g0101 a0008c0009t0006g0018 a0008c0009t0006g0187 a0008c0009t0006g0188 a0011c0047t0002g0308 a0012c0014t0002g0306	8	449	0.0178	7	c.112 others(26): Show c.1126-1523_1126-1517dupAAAAAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CFAP126_chr1_161359733_161372876	161371698	G G	GTTTTTTT GTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 NA18942.hp2 NA18946.hp2 others(5): Show HG02040.hp2 NA18942.hp2 NA18946.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19068.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0003 a0002c0002t0003g0015 a0001c0001t0003g0003 a0002c0002t0003g0015	8	350	0.0229	7	c.-38 others(18): Show c.-3831_-3830insAAAAAAA	CFAP126	ENSG00000188931.4	transcript	ENST00000367974.2	protein_coding		3823		chr1	TogoVar
CFAP161_chr15_81129270_81154179	81146883	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00733.hp1 others(1): Show HG00099.hp1 HG00099.hp2 HG00733.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0300 a0001c0001t0001g0019 a0001c0001t0001g0300	4	448	0.0089	7	c.637 others(22): Show c.637-975_637-974insATATATA	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding	5/6			chr15	TogoVar
CFAP221_chr2_119539449_119661661	119628294	G G	GTGTGTGT GTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG02735.hp2 others(2): Show HG00639.hp1 HG00733.hp2 HG02735.hp2 NA19001.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0001 a0003c0003t0002	a0001c0001t0001g0021 a0001c0001t0001g0214 a0003c0003t0001g0062 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0214 a0003c0003t0001g0062 a0003c0003t0001g0091 a0003c0003t0002g0060	5	226	0.0221	7	c.165 others(24): Show c.1650+508_1650+509insTGTGTGT	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	16/23			chr2	TogoVar
CFAP251_chr12_121913592_122008919	121954636	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(21): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00639.hp1 HG00642.hp1 HG00741.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01175.hp2 HG01346.hp1 HG01433.hp1 HG01515.hp1 HG01943.hp1 HG02148.hp1 HG02735.hp2 HG03098.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp1 NA18982.hp1 NA19055.hp1 NA19067.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0001 a0001c0021 a0003c0003 others(1): Show a0001c0001 a0001c0021 a0003c0003 a0013c0016	a0001c0001t0001 a0001c0021t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0021t0001 a0003c0003t0001 a0013c0016t0001	a0001c0001t0001g0112 a0001c0001t0001g0137 a0001c0001t0001g0138 others(21): Show a0001c0001t0001g0112 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0001g0326 a0001c0021t0001g0202 a0003c0003t0001g0057 a0003c0003t0001g0087 a0003c0003t0001g0093 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0104 a0003c0003t0001g0107 a0003c0003t0001g0108 a0003c0003t0001g0110 a0013c0016t0001g0098	24	354	0.0678	7	c.153 others(24): Show c.1535+328_1535+334dupAAAAAAA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121979563	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01255.hp1 HG01256.hp2 others(15): Show HG01168.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG02109.hp2 HG02258.hp2 HG02602.hp1 HG03017.hp2 HG03239.hp2 HG03927.hp2 NA18955.hp2 NA18964.hp2 NA18980.hp1 NA18992.hp2 NA19004.hp2 NA19060.hp1 NA19070.hp2 NA21309.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0003c0012 a0007c0007 a0003c0003 a0003c0012 a0007c0007	a0003c0003t0001 a0003c0012t0001 a0007c0007t0001 a0003c0003t0001 a0003c0012t0001 a0007c0007t0001	a0003c0003t0001g0090 a0003c0003t0001g0101 a0003c0003t0001g0271 others(15): Show a0003c0003t0001g0090 a0003c0003t0001g0101 a0003c0003t0001g0271 a0003c0012t0001g0084 a0003c0012t0001g0272 a0007c0007t0001g0067 a0007c0007t0001g0071 a0007c0007t0001g0072 a0007c0007t0001g0073 a0007c0007t0001g0074 a0007c0007t0001g0075 a0007c0007t0001g0077 a0007c0007t0001g0078 a0007c0007t0001g0079 a0007c0007t0001g0080 a0007c0007t0001g0081 a0007c0007t0001g0082 a0007c0007t0001g0085	18	354	0.0509	7	c.300 others(26): Show c.3006+3891_3006+3897dupTTTTTTT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP276_chr1_109100951_109117747	109107725	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(105): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00642.hp1 HG00733.hp1 HG00741.hp1 HG01074.hp2 HG01106.hp2 HG01257.hp1 HG01261.hp1 HG01361.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02630.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03017.hp1 HG03139.hp1 HG03225.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG06807.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18956.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19058.hp2 NA19059.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19089.hp2 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0008c0008t0001 a0001c0001t0001 a0001c0001t0002 a0008c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(25): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0002g0025 a0008c0008t0001g0061	108	404	0.2673	7	c.198 others(22): Show c.198+189_198+195dupTTTTTTT	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding	2/4			chr1	TogoVar
CFAP298_chr21_32594354_32617377	32598545	C C	CTTCTTCT CTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG02451.hp1 HG02622.hp1 others(4): Show HG01516.hp2 HG02451.hp1 HG02622.hp1 HG02896.hp1 HG03486.hp2 HG03540.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0017 a0001c0001t0010 a0001c0001t0017	a0001c0001t0010g0047 a0001c0001t0010g0191 a0001c0001t0010g0192 others(3): Show a0001c0001t0010g0047 a0001c0001t0010g0191 a0001c0001t0010g0192 a0001c0001t0010g0193 a0001c0001t0017g0080 a0001c0001t0017g0083	7	416	0.0168	7	c.33 others(18): Show c.3317_*3318insAGAAGAA	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding		808		chr21	TogoVar
CFAP299_chr4_80330730_80968750	80576197	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02735.hp2 HG03516.hp1 HG00423.hp2 HG02735.hp2 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0004t0001g0050 a0001c0004t0001g0094 a0001c0004t0001g0095	3	96	0.0313	7	c.243 others(24): Show c.243-6896_243-6895insTATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5			chr4	TogoVar
CFAP299_chr4_80330730_80968750	80799314	A A	ATATATTG ATATATTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03139.hp2 HG03516.hp1 HG02965.hp2 HG03139.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0006 a0001c0003 a0001c0004 a0002c0006	a0001c0003t0002 a0001c0004t0001 a0002c0006t0001 a0001c0003t0002 a0001c0004t0001 a0002c0006t0001	a0001c0003t0002g0092 a0001c0004t0001g0050 a0002c0006t0001g0088 a0001c0003t0002g0092 a0001c0004t0001g0050 a0002c0006t0001g0088	3	96	0.0313	7	c.334 others(26): Show c.334-70675_334-70674insTTGTATA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80799892	A A	AATATTAT AATATTAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG06807.hp2 HG02922.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0002 a0001c0001t0001 a0001c0009t0002	a0001c0001t0001g0018 a0001c0009t0002g0015 a0001c0001t0001g0018 a0001c0009t0002g0015	2	96	0.0208	7	c.334 others(26): Show c.334-70099_334-70098insATTATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80799893	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03516.hp1 HG03041.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0001 a0002c0002t0001 a0001c0004t0001 a0002c0002t0001	a0001c0004t0001g0050 a0002c0002t0001g0002 a0001c0004t0001g0050 a0002c0002t0001g0002	2	96	0.0208	7	c.334 others(26): Show c.334-70099_334-70098insATATATT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80800632	A A	AAATATAT AAATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03139.hp1 HG03195.hp2 others(1): Show HG02976.hp1 HG03139.hp1 HG03195.hp2 NA18906.hp1	a0002 a0002	a0002c0005 a0002c0006 a0002c0005 a0002c0006	a0002c0005t0001 a0002c0006t0001 a0002c0005t0001 a0002c0006t0001	a0002c0005t0001g0070 a0002c0005t0001g0071 a0002c0005t0001g0076 others(1): Show a0002c0005t0001g0070 a0002c0005t0001g0071 a0002c0005t0001g0076 a0002c0006t0001g0034	4	96	0.0417	7	c.334 others(26): Show c.334-69353_334-69347dupAATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80843912	C C	CCCCACAA CCCCACAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp2 HG03041.hp1 others(2): Show HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03516.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0009 others(2): Show a0001c0001 a0001c0004 a0001c0009 a0002c0002 a0002c0006	a0001c0001t0001 a0001c0004t0001 a0001c0009t0002 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0009t0002 a0002c0002t0001 a0002c0006t0001	a0001c0001t0001g0018 a0001c0004t0001g0050 a0001c0009t0002g0015 others(2): Show a0001c0001t0001g0018 a0001c0004t0001g0050 a0001c0009t0002g0015 a0002c0002t0001g0002 a0002c0006t0001g0088	5	96	0.0521	7	c.334 others(26): Show c.334-26081_334-26080insCCCACAA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5			chr4	TogoVar
CFAP299_chr4_80330730_80968750	80866059	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp2 HG02071.hp1 HG02071.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0059 a0002c0002t0001g0005 a0001c0001t0001g0059 a0002c0002t0001g0005	2	96	0.0208	7	c.334 others(24): Show c.334-3934_334-3933insATATATA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5			chr4	TogoVar
CFAP299_chr4_80330730_80968750	80937312	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02280.hp1 HG02897.hp1 others(4): Show HG00597.hp2 HG02280.hp1 HG02897.hp1 NA18522.hp1 NA18906.hp2 NA18983.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044	7	96	0.0729	7	c.477 others(24): Show c.477-7482_477-7476dupTTTTTTT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP44_chr3_113281930_113446493	113338303	G G	GAATGAAA GAATGAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00544.hp1 others(56): Show HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG01106.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03098.hp2 HG03579.hp2 HG03704.hp2 HG03927.hp1 NA18939.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18951.hp2 NA18952.hp2 NA18957.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18985.hp2 NA18991.hp1 NA18998.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19066.hp1 NA19067.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0004 a0005 a0008 others(7): Show a0004 a0005 a0008 a0009 a0011 a0016 a0017 a0023 a0027 a0028	a0004c0004 a0004c0043 a0005c0005 others(9): Show a0004c0004 a0004c0043 a0005c0005 a0008c0010 a0009c0011 a0011c0017 a0016c0024 a0017c0039 a0017c0040 a0023c0037 a0027c0044 a0028c0038	a0004c0004t0004 a0004c0004t0006 a0004c0004t0007 others(24): Show a0004c0004t0004 a0004c0004t0006 a0004c0004t0007 a0004c0004t0012 a0004c0004t0017 a0004c0004t0063 a0004c0043t0057 a0005c0005t0010 a0005c0005t0012 a0005c0005t0015 a0005c0005t0046 a0005c0005t0054 a0005c0005t0059 a0008c0010t0027 a0008c0010t0042 a0008c0010t0043 a0009c0011t0023 a0009c0011t0033 a0009c0011t0047 a0011c0017t0028 a0011c0017t0041 a0016c0024t0024 a0017c0039t0066 a0017c0040t0022 a0023c0037t0045 a0027c0044t0010 a0028c0038t0053	a0004c0004t0004g0305 a0004c0004t0006g0288 a0004c0004t0006g0289 others(56): Show a0004c0004t0004g0305 a0004c0004t0006g0288 a0004c0004t0006g0289 a0004c0004t0006g0301 a0004c0004t0007g0291 a0004c0004t0007g0292 a0004c0004t0007g0293 a0004c0004t0007g0298 a0004c0004t0007g0299 a0004c0004t0007g0300 a0004c0004t0007g0307 a0004c0004t0007g0308 a0004c0004t0007g0309 a0004c0004t0012g0286 a0004c0004t0012g0287 a0004c0004t0012g0294 a0004c0004t0012g0295 a0004c0004t0012g0303 a0004c0004t0012g0306 a0004c0004t0017g0290 a0004c0004t0017g0296 a0004c0004t0017g0304 a0004c0004t0063g0302 a0004c0043t0057g0276 a0005c0005t0010g0007 a0005c0005t0010g0008 a0005c0005t0010g0009 a0005c0005t0010g0014 a0005c0005t0010g0015 a0005c0005t0010g0018 a0005c0005t0010g0053 a0005c0005t0012g0012 a0005c0005t0015g0010 a0005c0005t0015g0011 a0005c0005t0015g0013 a0005c0005t0015g0017 a0005c0005t0015g0020 a0005c0005t0015g0021 a0005c0005t0046g0019 a0005c0005t0054g0016 a0005c0005t0059g0022 a0008c0010t0027g0048 a0008c0010t0027g0283 a0008c0010t0042g0049 a0008c0010t0043g0050 a0009c0011t0023g0026 a0009c0011t0033g0024 a0009c0011t0033g0025 a0009c0011t0047g0172 a0011c0017t0028g0277 a0011c0017t0028g0278 a0011c0017t0041g0041 a0016c0024t0024g0279 a0016c0024t0024g0280 a0017c0039t0066g0122 a0017c0040t0022g0281 a0023c0037t0045g0037 a0027c0044t0010g0297 a0028c0038t0053g0023	59	348	0.1695	7	c.343 others(26): Show c.3437+3434_3437+3440dupTTTCATT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	24/34			chr3	TogoVar
CFAP46_chr10_132803392_132947570	132820673	C C	CTGTGAGT CTGTGAGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02615.hp1 others(2): Show HG02258.hp1 HG02572.hp2 HG02615.hp1 HG02809.hp2 HG03486.hp2	a0010 a0010	a0010c0011 a0010c0072 a0010c0011 a0010c0072	a0010c0011t0001 a0010c0072t0002 a0010c0011t0001 a0010c0072t0002	a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 others(2): Show a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242 a0010c0072t0002g0004	5	246	0.0203	7	c.711 others(26): Show c.7118-5760_7118-5759insACTCACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132823892	C C	CTGTGTGT CTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19004.hp2 NA20905.hp2 HG00544.hp2 NA19004.hp2 NA20905.hp2	a0028 a0071 a0028 a0071	a0028c0027 a0071c0098 a0028c0027 a0071c0098	a0028c0027t0002 a0071c0098t0002 a0028c0027t0002 a0071c0098t0002	a0028c0027t0002g0028 a0028c0027t0002g0077 a0071c0098t0002g0023 a0028c0027t0002g0028 a0028c0027t0002g0077 a0071c0098t0002g0023	3	246	0.0122	7	c.711 others(26): Show c.7118-8979_7118-8978insACACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132887611	C C	CCCTTCTT CCCTTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00642.hp2 others(7): Show HG00099.hp2 HG00323.hp1 HG00642.hp2 HG01099.hp2 HG01346.hp1 HG01952.hp1 HG02602.hp2 HG03704.hp2 HG04184.hp2 HG06807.hp1	a0004 a0033 a0041 a0004 a0033 a0041	a0004c0005 a0033c0048 a0041c0049 a0004c0005 a0033c0048 a0041c0049	a0004c0005t0001 a0004c0005t0002 a0033c0048t0001 others(1): Show a0004c0005t0001 a0004c0005t0002 a0033c0048t0001 a0041c0049t0001	a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 others(7): Show a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0223 a0004c0005t0001g0225 a0004c0005t0001g0226 a0004c0005t0001g0227 a0004c0005t0002g0016 a0033c0048t0001g0224 a0041c0049t0001g0176	10	246	0.0407	7	c.330 others(26): Show c.3305-1653_3305-1652insAAGAAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	35959878	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0011 a0011	a0011c0076 a0011c0076	a0011c0076t0001 a0011c0076t0001	a0011c0076t0001g0141 a0011c0076t0001g0141	1	216	0.0046	7	c.141 others(26): Show c.1410+3699_1410+3705dupAAAAAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35960380	G G	GAAAAAAA GAAAAAAA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0152 a0002c0002t0001g0152	1	216	0.0046	7	c.141 others(26): Show c.1410+4205_1410+4211dupAAAAAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35960380	G G	GGAAAAAA GGAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0011 a0011	a0011c0076 a0011c0076	a0011c0076t0001 a0011c0076t0001	a0011c0076t0001g0141 a0011c0076t0001g0141	1	216	0.0046	7	c.141 others(26): Show c.1410+4184_1410+4185insGAAAAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63			chrX	TogoVar
CFAP52_chr17_9571642_9648447	9589801	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(155): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18990.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19079.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0002 a0001c0004 a0002c0001 others(3): Show a0001c0002 a0001c0004 a0002c0001 a0002c0011 a0004c0006 a0007c0013	a0001c0002t0001 a0001c0002t0002 a0001c0004t0004 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0004 a0002c0001t0001 a0002c0001t0002 a0002c0011t0001 a0004c0006t0001 a0007c0013t0001	a0001c0002t0001g0003 a0001c0002t0001g0008 a0001c0002t0001g0010 others(154): Show a0001c0002t0001g0003 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0016 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0078 a0001c0002t0001g0088 a0001c0002t0001g0094 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0001g0111 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0143 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0170 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0189 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0276 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0296 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0309 a0001c0002t0001g0311 a0001c0002t0002g0002 a0001c0002t0002g0121 a0001c0002t0002g0197 a0001c0004t0004g0001 a0001c0004t0004g0036 a0001c0004t0004g0199 a0002c0001t0001g0014 a0002c0001t0001g0028 a0002c0001t0001g0029 a0002c0001t0001g0035 a0002c0001t0001g0038 a0002c0001t0001g0043 a0002c0001t0001g0046 a0002c0001t0001g0061 a0002c0001t0001g0068 a0002c0001t0001g0069 a0002c0001t0001g0071 a0002c0001t0001g0082 a0002c0001t0001g0086 a0002c0001t0001g0092 a0002c0001t0001g0093 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0103 a0002c0001t0001g0113 a0002c0001t0001g0114 a0002c0001t0001g0116 a0002c0001t0001g0119 a0002c0001t0001g0128 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0146 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0166 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0171 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0182 a0002c0001t0001g0190 a0002c0001t0001g0200 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0233 a0002c0001t0001g0248 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0251 a0002c0001t0001g0264 a0002c0001t0001g0265 a0002c0001t0001g0266 a0002c0001t0001g0267 a0002c0001t0001g0268 a0002c0001t0001g0272 a0002c0001t0001g0275 a0002c0001t0001g0279 a0002c0001t0001g0280 a0002c0001t0001g0281 a0002c0001t0001g0286 a0002c0001t0001g0287 a0002c0001t0001g0297 a0002c0001t0001g0302 a0002c0001t0001g0308 a0002c0001t0002g0183 a0002c0001t0002g0198 a0002c0001t0002g0247 a0002c0011t0001g0277 a0004c0006t0001g0315 a0007c0013t0001g0015	158	316	0.5000	7	c.407 others(24): Show c.407+2975_407+2981dupTTTTTTT	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9598760	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG01255.hp2 others(4): Show HG00323.hp2 HG00639.hp2 HG01255.hp2 HG06807.hp1 NA18954.hp1 NA18959.hp2 NA18968.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0003 a0001c0002t0001g0083 a0001c0002t0001g0210 others(4): Show a0001c0002t0001g0003 a0001c0002t0001g0083 a0001c0002t0001g0210 a0001c0002t0001g0226 a0001c0002t0001g0245 a0002c0001t0001g0092 a0002c0001t0001g0093	7	316	0.0222	7	c.636 others(22): Show c.636+431_636+437dupAAAAAAA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9629496	T T	TTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp1 HG02976.hp2 HG01243.hp2 HG02486.hp1 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0025 a0001c0002t0001g0066 a0001c0002t0001g0010 a0001c0002t0001g0025 a0001c0002t0001g0066	3	316	0.0095	7	c.117 others(24): Show c.1174+678_1174+679insCTTTCTT	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP53_chr18_50222193_50271495	50227955	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG00673.hp1 others(49): Show HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01496.hp2 HG01891.hp2 HG01981.hp2 HG02080.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02698.hp2 HG02738.hp2 HG02809.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03486.hp2 HG03516.hp1 HG03688.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 NA18947.hp1 NA18960.hp2 NA18975.hp2 NA18978.hp2 NA18995.hp1 NA19000.hp2 NA19010.hp2 NA19030.hp2 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0053 others(48): Show a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0256 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0075 a0002c0002t0001g0113 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0136 a0002c0002t0001g0149 a0002c0002t0001g0155 a0003c0003t0001g0080 a0003c0003t0001g0227 a0003c0003t0001g0234 a0003c0003t0001g0238 a0003c0003t0001g0243 a0003c0003t0001g0244 a0003c0003t0001g0245 a0003c0003t0001g0254 a0003c0003t0001g0316 a0003c0003t0001g0317	52	402	0.1294	7	c.131 others(24): Show c.1317-353_1317-347dupAAAAAAA	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP54_chr12_96484577_96880555	96539064	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00621.hp2 others(28): Show HG00323.hp1 HG00438.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp1 HG01175.hp1 HG01256.hp2 HG01358.hp2 HG01517.hp2 HG01975.hp1 HG02071.hp1 HG02258.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp1 HG02809.hp1 HG02965.hp1 HG03041.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG04204.hp1 NA18964.hp1 NA18971.hp1 NA18998.hp2 NA19060.hp1 NA19066.hp1 NA19090.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0003 a0007 a0011 others(6): Show a0003 a0007 a0011 a0013 a0016 a0017 a0018 a0032 a0034	a0003c0002 a0003c0016 a0003c0033 others(9): Show a0003c0002 a0003c0016 a0003c0033 a0007c0019 a0007c0075 a0011c0017 a0013c0018 a0016c0022 a0017c0031 a0018c0067 a0032c0070 a0034c0065	a0003c0002t0001 a0003c0016t0001 a0003c0033t0001 others(9): Show a0003c0002t0001 a0003c0016t0001 a0003c0033t0001 a0007c0019t0001 a0007c0075t0001 a0011c0017t0001 a0013c0018t0001 a0016c0022t0001 a0017c0031t0001 a0018c0067t0001 a0032c0070t0001 a0034c0065t0001	a0003c0002t0001g0210 a0003c0002t0001g0211 a0003c0002t0001g0220 others(28): Show a0003c0002t0001g0210 a0003c0002t0001g0211 a0003c0002t0001g0220 a0003c0002t0001g0224 a0003c0002t0001g0225 a0003c0002t0001g0226 a0003c0002t0001g0228 a0003c0002t0001g0230 a0003c0002t0001g0232 a0003c0002t0001g0233 a0003c0002t0001g0236 a0003c0002t0001g0237 a0003c0002t0001g0238 a0003c0002t0001g0242 a0003c0002t0001g0263 a0003c0002t0001g0264 a0003c0002t0001g0267 a0003c0016t0001g0247 a0003c0033t0001g0218 a0007c0019t0001g0229 a0007c0019t0001g0268 a0007c0075t0001g0015 a0011c0017t0001g0260 a0011c0017t0001g0262 a0013c0018t0001g0257 a0016c0022t0001g0217 a0016c0022t0001g0223 a0017c0031t0001g0266 a0018c0067t0001g0235 a0032c0070t0001g0244 a0034c0065t0001g0212	31	268	0.1157	7	c.192 others(24): Show c.1926+553_1926+559dupTTTTTTT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	13/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96621875	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02056.hp1 HG02258.hp1 others(13): Show HG01109.hp1 HG02056.hp1 HG02258.hp1 HG02683.hp1 HG02735.hp2 HG02922.hp1 HG03688.hp2 NA18944.hp2 NA18954.hp1 NA18969.hp1 NA18989.hp2 NA19012.hp1 NA19054.hp1 NA19079.hp2 NA19081.hp2 NA19087.hp2	a0002 a0003 a0004 others(6): Show a0002 a0003 a0004 a0007 a0012 a0025 a0038 a0054 a0060	a0002c0003 a0002c0007 a0003c0033 others(7): Show a0002c0003 a0002c0007 a0003c0033 a0004c0088 a0007c0075 a0012c0021 a0025c0029 a0038c0093 a0054c0034 a0060c0094	a0002c0003t0001 a0002c0003t0002 a0002c0007t0001 others(8): Show a0002c0003t0001 a0002c0003t0002 a0002c0007t0001 a0003c0033t0001 a0004c0088t0001 a0007c0075t0001 a0012c0021t0001 a0025c0029t0001 a0038c0093t0001 a0054c0034t0001 a0060c0094t0001	a0002c0003t0001g0127 a0002c0003t0001g0131 a0002c0003t0001g0157 others(13): Show a0002c0003t0001g0127 a0002c0003t0001g0131 a0002c0003t0001g0157 a0002c0003t0002g0175 a0002c0007t0001g0124 a0002c0007t0001g0134 a0002c0007t0001g0135 a0002c0007t0001g0136 a0003c0033t0001g0218 a0004c0088t0001g0140 a0007c0075t0001g0015 a0012c0021t0001g0203 a0025c0029t0001g0176 a0038c0093t0001g0158 a0054c0034t0001g0006 a0060c0094t0001g0147	16	268	0.0597	7	c.377 others(24): Show c.3771+180_3771+186dupTTTTTTT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	27/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96791184	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01975.hp2 NA18947.hp2 others(7): Show HG01123.hp2 HG01975.hp2 NA18947.hp2 NA18954.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA19058.hp2 NA19081.hp1 NA19084.hp2	a0005 a0055 a0005 a0055	a0005c0004 a0005c0015 a0005c0020 others(1): Show a0005c0004 a0005c0015 a0005c0020 a0055c0089	a0005c0004t0001 a0005c0015t0001 a0005c0020t0001 others(1): Show a0005c0004t0001 a0005c0015t0001 a0005c0020t0001 a0055c0089t0001	a0005c0004t0001g0010 a0005c0004t0001g0012 a0005c0004t0001g0108 others(7): Show a0005c0004t0001g0010 a0005c0004t0001g0012 a0005c0004t0001g0108 a0005c0004t0001g0112 a0005c0015t0001g0016 a0005c0015t0001g0062 a0005c0020t0001g0142 a0005c0020t0001g0213 a0005c0020t0001g0250 a0055c0089t0001g0150	10	268	0.0373	7	c.868 others(26): Show c.8680-1133_8680-1127dupTTTTTTT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	62/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP57_chr1_43167330_43259358	43185678	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01978.hp2 HG02027.hp2 others(10): Show HG01243.hp1 HG01978.hp2 HG02027.hp2 HG02738.hp1 HG02818.hp1 HG03225.hp2 HG03669.hp1 HG04115.hp2 NA18940.hp1 NA18956.hp1 NA18990.hp2 NA18991.hp1 NA19009.hp2	a0002 a0003 a0010 others(1): Show a0002 a0003 a0010 a0018	a0002c0005 a0002c0006 a0002c0011 others(5): Show a0002c0005 a0002c0006 a0002c0011 a0003c0002 a0003c0004 a0003c0022 a0010c0021 a0018c0036	a0002c0005t0001 a0002c0006t0001 a0002c0011t0001 others(5): Show a0002c0005t0001 a0002c0006t0001 a0002c0011t0001 a0003c0002t0001 a0003c0004t0001 a0003c0022t0001 a0010c0021t0001 a0018c0036t0001	a0002c0005t0001g0012 a0002c0006t0001g0036 a0002c0011t0001g0026 others(10): Show a0002c0005t0001g0012 a0002c0006t0001g0036 a0002c0011t0001g0026 a0002c0011t0001g0027 a0003c0002t0001g0008 a0003c0002t0001g0207 a0003c0002t0001g0236 a0003c0002t0001g0237 a0003c0004t0001g0081 a0003c0004t0001g0255 a0003c0022t0001g0229 a0010c0021t0001g0082 a0018c0036t0001g0013	13	308	0.0422	7	c.969 others(22): Show c.969+335_969+341dupAAAAAAA	CFAP57	ENSG00000243710.8	transcript	ENST00000372492.9	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP57_chr1_43167330_43259358	43186610	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02293.hp2 HG02300.hp1 others(3): Show HG01952.hp1 HG02293.hp2 HG02300.hp1 HG03239.hp1 HG03688.hp2 NA20905.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0068 a0002c0005t0001g0069 a0002c0005t0001g0071 others(3): Show a0002c0005t0001g0068 a0002c0005t0001g0069 a0002c0005t0001g0071 a0002c0005t0001g0072 a0002c0005t0001g0073 a0002c0005t0001g0074	6	308	0.0195	7	c.970 others(20): Show c.970-80_970-74dupAAAAAAA	CFAP57	ENSG00000243710.8	transcript	ENST00000372492.9	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP61_chr20_20047532_20365698	20151829	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01071.hp1 others(24): Show HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01168.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG02071.hp1 HG02080.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02897.hp1 HG02965.hp2 HG03098.hp1 HG03490.hp1 HG03834.hp2 HG03942.hp2 HG04204.hp1 NA18962.hp2 NA18966.hp1 NA19030.hp2 NA20129.hp2	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0017	a0002c0002 a0002c0004 a0002c0009 others(7): Show a0002c0002 a0002c0004 a0002c0009 a0002c0022 a0002c0034 a0002c0035 a0003c0005 a0003c0046 a0006c0011 a0017c0037	a0002c0002t0001 a0002c0004t0001 a0002c0009t0001 others(11): Show a0002c0002t0001 a0002c0004t0001 a0002c0009t0001 a0002c0009t0002 a0002c0009t0003 a0002c0022t0002 a0002c0034t0002 a0002c0035t0001 a0003c0005t0001 a0003c0005t0002 a0003c0046t0001 a0006c0011t0002 a0006c0011t0003 a0017c0037t0005	a0002c0002t0001g0088 a0002c0002t0001g0109 a0002c0002t0001g0110 others(24): Show a0002c0002t0001g0088 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0179 a0002c0002t0001g0226 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0004t0001g0215 a0002c0009t0001g0105 a0002c0009t0002g0104 a0002c0009t0003g0107 a0002c0022t0002g0049 a0002c0034t0002g0034 a0002c0035t0001g0204 a0003c0005t0001g0080 a0003c0005t0001g0217 a0003c0005t0002g0069 a0003c0005t0002g0070 a0003c0005t0002g0218 a0003c0046t0001g0059 a0006c0011t0002g0117 a0006c0011t0003g0089 a0006c0011t0003g0098 a0017c0037t0005g0138	27	236	0.1144	7	c.952 others(24): Show c.952-7528_952-7522dupAAAAAAA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20231449	C C	CTGGTGAT CTGGTGAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18906.hp2 HG02922.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0007 a0001c0001t0007 a0002c0002t0007	a0001c0001t0007g0008 a0002c0002t0007g0018 a0001c0001t0007g0008 a0002c0002t0007g0018	2	236	0.0085	7	c.206 others(26): Show c.2060+3074_2060+3080dupTGGTGAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20296070	T T	TTTCTTCC TTTCTTCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00639.hp2 others(29): Show HG00099.hp2 HG00323.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG01168.hp1 HG01243.hp2 HG01346.hp2 HG01884.hp2 HG01993.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02293.hp2 HG02300.hp2 HG02630.hp2 HG02965.hp2 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03579.hp1 HG03669.hp1 HG03942.hp2 HG04204.hp2 HG06807.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA19003.hp2 NA19064.hp1 NA19064.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0006 others(7): Show a0001c0001 a0001c0003 a0001c0006 a0001c0024 a0001c0045 a0002c0002 a0002c0004 a0002c0032 a0003c0046 a0006c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0003t0004 a0001c0006t0001 a0001c0024t0008 a0001c0045t0002 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0004t0002 a0002c0032t0001 a0003c0046t0001 a0006c0011t0003	a0001c0001t0002g0198 a0001c0001t0003g0124 a0001c0001t0004g0003 others(29): Show a0001c0001t0002g0198 a0001c0001t0003g0124 a0001c0001t0004g0003 a0001c0003t0001g0031 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0164 a0001c0003t0001g0196 a0001c0003t0001g0202 a0001c0003t0001g0211 a0001c0003t0001g0221 a0001c0003t0004g0015 a0001c0006t0001g0220 a0001c0024t0008g0176 a0001c0045t0002g0074 a0002c0002t0001g0032 a0002c0002t0001g0088 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0179 a0002c0002t0001g0226 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0002g0002 a0002c0002t0002g0159 a0002c0004t0001g0025 a0002c0004t0002g0209 a0002c0032t0001g0185 a0003c0046t0001g0059 a0006c0011t0003g0098	32	236	0.1356	7	c.321 others(26): Show c.3217-2110_3217-2109insTCTTCCT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr20	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)