Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
CENPP_chr9_92320953_92625529	92567373	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATAGAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	260	0.0039	36	c.565 others(55): Show c.565-43918_565-43917insTATATATATAGATATATATATATATA TATATATATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP128_chr14_80491479_80946738	80561896	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0054 a0001c0001t0005g0054	1	164	0.0061	36	c.285 others(55): Show c.2857-2595_2857-2594insTATATATATATATATATATATATATA TATATATATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	20/24			chr14	TogoVar
CEP131_chr17_81184596_81227965	81209737	C C	CGAGGATC others(29): Show CGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCG	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0250 a0005c0006t0001g0250	1	384	0.0026	36	c.178 others(51): Show c.178-716_178-715insCGCTTAGCGTCCGCTTCTCCGAGCGCTCTG ATCCTC	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CEP295NL_chr17_78885579_78908201	78904091	A A	ATGTGTGT others(29): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00741.hp2 HG01243.hp2 others(19): Show HG00621.hp1 HG00741.hp2 HG01243.hp2 HG02080.hp2 HG02132.hp2 HG02630.hp2 HG02818.hp1 HG03195.hp2 HG03486.hp2 HG03831.hp2 HG04228.hp1 NA18957.hp1 NA18969.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18988.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19030.hp2 NA19066.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0007	a0001c0001 a0001c0010 a0002c0002 others(5): Show a0001c0001 a0001c0010 a0002c0002 a0002c0027 a0004c0004 a0005c0006 a0006c0005 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0010t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0002 a0002c0002t0002 a0002c0027t0002 a0004c0004t0001 a0005c0006t0001 a0006c0005t0002 a0007c0007t0002	a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0201 others(13): Show a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0201 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0032 a0001c0001t0002g0094 a0001c0001t0002g0107 a0001c0001t0002g0116 a0001c0010t0002g0030 a0002c0002t0002g0115 a0002c0027t0002g0060 a0004c0004t0001g0152 a0005c0006t0001g0203 a0006c0005t0002g0056 a0007c0007t0002g0049	22	430	0.0512	36	c.-10 others(47): Show c.-1057_-1056insCACACACACACACACACACACACACACACACACA CA	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding		891		chr17	TogoVar
CEP43_chr6_166994397_167057718	167042814	T T	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01175.hp1 HG01257.hp1 others(1): Show HG00738.hp1 HG01175.hp1 HG01257.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0182 a0001c0001t0197 a0001c0001t0054 a0001c0001t0182 a0001c0001t0197	a0001c0001t0054g0025 a0001c0001t0182g0004 a0001c0001t0197g0144 a0001c0001t0054g0025 a0001c0001t0182g0004 a0001c0001t0197g0144	4	376	0.0106	36	c.28 others(47): Show c.2861_*2862insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	13/13	2862	INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP63_chr3_134481057_134570031	134538531	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG03239.hp2 others(6): Show HG00735.hp1 HG01099.hp2 HG03239.hp2 NA18949.hp2 NA18950.hp1 NA18978.hp1 NA19009.hp1 NA19074.hp2 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0005t0001 a0002c0002t0001 a0002c0005t0001	a0002c0002t0001g0214 a0002c0002t0001g0241 a0002c0002t0001g0253 others(6): Show a0002c0002t0001g0214 a0002c0002t0001g0241 a0002c0002t0001g0253 a0002c0002t0001g0283 a0002c0002t0001g0293 a0002c0002t0001g0308 a0002c0002t0001g0311 a0002c0005t0001g0159 a0002c0005t0001g0178	9	322	0.0280	36	c.555 others(53): Show c.555+1264_555+1265insATATATATATATATATATATATATATAT ATGTATAT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134538531	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02015.hp2 NA18966.hp2 HG01258.hp1 HG02015.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0022 a0002c0002t0001 a0002c0002t0022	a0002c0002t0001g0268 a0002c0002t0001g0298 a0002c0002t0022g0246 a0002c0002t0001g0268 a0002c0002t0001g0298 a0002c0002t0022g0246	3	322	0.0093	36	c.555 others(53): Show c.555+1264_555+1265insATATATATATATATATATATATATATGT ATATATAT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP78_chr9_78231075_78284690	78284298	T T	TCCATTTT others(29): Show TCCATTTTACAGAGTGCTAATTGGTGCATTTACAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0233	1	340	0.0029	36	c.13 others(49): Show c.13447_*13448insCCATTTTACAGAGTGCTAATTGGTGCATTTAC AAAC	CEP78	ENSG00000148019.14	transcript	ENST00000643273.2	protein_coding		4609		chr9	TogoVar
CEP85L_chr6_118455772_118656591	118500451	A A	AGCACCTA others(29): Show AGCACCTATTGTTCGAAGGATGCAGTCTCACAAGCCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(167): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02074.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18951.hp1 NA18957.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19062.hp2 NA19074.hp2 NA19077.hp2 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(4): Show a0002 a0003 a0005 a0006 a0007 a0010 a0011	a0002c0002 a0002c0012 a0003c0003 others(5): Show a0002c0002 a0002c0012 a0003c0003 a0005c0005 a0006c0006 a0007c0007 a0010c0010 a0011c0011	a0002c0002t0002 a0002c0002t0005 a0002c0002t0014 others(22): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0014 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031 a0002c0012t0005 a0003c0003t0002 a0003c0003t0003 a0003c0003t0016 a0005c0005t0008 a0005c0005t0015 a0006c0006t0009 a0006c0006t0021 a0007c0007t0011 a0007c0007t0013 a0007c0007t0019 a0007c0007t0020 a0010c0010t0003 a0011c0011t0008	a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 others(167): Show a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0249 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0290 a0002c0002t0005g0261 a0002c0002t0005g0262 a0002c0002t0005g0264 a0002c0002t0005g0265 a0002c0002t0005g0266 a0002c0002t0005g0267 a0002c0002t0005g0268 a0002c0002t0005g0269 a0002c0002t0005g0270 a0002c0002t0005g0271 a0002c0002t0005g0277 a0002c0002t0005g0283 a0002c0002t0005g0284 a0002c0002t0005g0285 a0002c0002t0014g0275 a0002c0002t0014g0276 a0002c0002t0024g0272 a0002c0002t0025g0282 a0002c0002t0026g0185 a0002c0002t0027g0186 a0002c0002t0028g0293 a0002c0002t0029g0210 a0002c0002t0030g0182 a0002c0002t0031g0302 a0002c0012t0005g0263 a0003c0003t0002g0219 a0003c0003t0002g0223 a0003c0003t0002g0232 a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0009 a0003c0003t0003g0010 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0014 a0003c0003t0003g0016 a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0030 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0016g0011 a0005c0005t0008g0250 a0005c0005t0008g0251 a0005c0005t0008g0252 a0005c0005t0008g0286 a0005c0005t0008g0287 a0005c0005t0008g0295 a0005c0005t0008g0296 a0005c0005t0008g0297 a0005c0005t0008g0298 a0005c0005t0015g0300 a0005c0005t0015g0301 a0006c0006t0009g0244 a0006c0006t0009g0246 a0006c0006t0009g0247 a0006c0006t0009g0248 a0006c0006t0009g0288 a0006c0006t0009g0289 a0006c0006t0009g0291 a0006c0006t0009g0292 a0006c0006t0021g0245 a0007c0007t0011g0253 a0007c0007t0011g0254 a0007c0007t0011g0255 a0007c0007t0011g0256 a0007c0007t0013g0180 a0007c0007t0013g0181 a0007c0007t0019g0299 a0007c0007t0020g0176 a0010c0010t0003g0015 a0011c0011t0008g0294	170	302	0.5629	36	c.125 others(55): Show c.1258-8622_1258-8587dupAGGCTTGTGAGACTGCATCCTTCGAA CAATAGGTGC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	5/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26272617	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	342	0.0029	36	c.179 others(53): Show c.1794+573_1794+574insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CERKL_chr2_181531672_181662105	181609533	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0119 a0002c0003t0004g0119	1	298	0.0034	36	c.239 others(53): Show c.239-5455_239-5454insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERS4_chr19_8204370_8267421	8216685	G G	GAAATTTC others(29): Show GAAATTTCTTGTCTACTCTGTTCTCTGCTGGGATCCC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0233 a0002c0003t0004g0233	1	418	0.0024	36	c.-2+ others(51): Show c.-2+5825_-2+5860dupAATTTCTTGTCTACTCTGTTCTCTGCTGGG ATCCCA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS5_chr12_50124289_50172369	50156420	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03688.hp2 HG02559.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0014 a0001c0004t0005 a0001c0001t0014 a0001c0004t0005	a0001c0001t0014g0169 a0001c0004t0005g0008 a0001c0001t0014g0169 a0001c0004t0005g0008	2	320	0.0063	36	c.197 others(55): Show c.197+10680_197+10681insTATATATATATATATATATATATATA TATATATATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS6_chr2_168451272_168780134	168559733	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG02970.hp2 others(1): Show HG00280.hp1 HG00738.hp1 HG02970.hp2 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0007 a0001c0001t0011 a0001c0001t0025 others(1): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0025 a0003c0007t0005	a0001c0001t0007g0013 a0001c0001t0011g0080 a0001c0001t0025g0021 others(1): Show a0001c0001t0007g0013 a0001c0001t0011g0080 a0001c0001t0025g0021 a0003c0007t0005g0018	4	176	0.0227	36	c.277 others(53): Show c.277-1459_277-1458insTATATATATATATATATATATATATATA TATATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9			chr2	TogoVar
CERS6_chr2_168451272_168780134	168559733	T T	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0115 a0001c0001t0038g0115	1	176	0.0057	36	c.277 others(53): Show c.277-1459_277-1458insTTTATATATATATATATATATATATATA TATATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9			chr2	TogoVar
CES1_chr16_55797851_55838096	55830819	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGCAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	87	0.0115	36	c.53- others(51): Show c.53-1846_53-1845insGCCTGCCTGCCTGCCTGCCTGCCTGCCTTC CTTCCT	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding	1/13			chr16	TogoVar
CFAP144_chr1_43142904_43161396	43145840	A A	AATTATGG others(29): Show AATTATGGTAATTAAGATAGTGTAGTGCTGTTGCAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	396	0.0025	36	c.-21 others(47): Show c.-2112_-2111insATTATGGTAATTAAGATAGTGTAGTGCTGTTGCA AG	CFAP144	ENSG00000186973.11	transcript	ENST00000335282.5	protein_coding		2063		chr1	TogoVar
CFAP221_chr2_119539449_119661661	119552749	A A	ATTTCTTT others(29): Show ATTTCTTTCTTTAATAAGAAATAAATAGAAATATTTC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18980.hp2 NA18975.hp1 NA18980.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0037 a0004c0005t0002g0038 a0004c0005t0002g0037 a0004c0005t0002g0038	2	226	0.0089	36	c.240 others(53): Show c.240+3571_240+3572insCTTTAATAAGAAATAAATAGAAATATTT CTTTCTTT	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP298_chr21_32594354_32617377	32611338	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0219 a0001c0001t0042g0219	1	416	0.0024	36	c.139 others(51): Show c.139+766_139+767insTTTTATATATATATATATATATATATATAT ATATAT	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP299_chr4_80330730_80968750	80364089	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	96	0.0104	36	c.242 others(53): Show c.242+1234_242+1235insCACACACACACACACACACACACACACA CACACACA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80364089	A A	AACACACA others(29): Show AACACACACACCCACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0084 a0001c0003t0002g0084	1	96	0.0104	36	c.242 others(53): Show c.242+1215_242+1216insCCACACACACACACACACACACACACAC ACACACAC	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80364089	A A	AACACACA others(29): Show AACACACACACCCACACCCACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02976.hp2 HG02895.hp1 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0090 a0001c0003t0002g0091 a0001c0003t0002g0090 a0001c0003t0002g0091	2	96	0.0208	36	c.242 others(53): Show c.242+1215_242+1216insCCACACCCACACACACACACACACACAC ACACACAC	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80782556	G G	GATATATA others(29): Show GATATATAATATACATATATGAATATATAATATATTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	96	0.0104	36	c.334 others(55): Show c.334-87417_334-87382dupGAATATATAATATATTCATATATAAT ATACATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80782637	T T	TATACATA others(29): Show TATACATATATTAATATATAATATATTCATATATAGC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0050	1	96	0.0104	36	c.334 others(55): Show c.334-87346_334-87345insTAATATATAATATATTCATATATAGC ATACATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80782666	T T	TATATAAT others(29): Show TATATAATATACATATATGAATATATAATATATTCAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	96	0.0104	36	c.334 others(55): Show c.334-87292_334-87291insCATATAATATACATATATGAATATAT AATATATTCA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80799168	T T	TTATATAT others(29): Show TTATATATATTGTATAAATATATTTATATAATATTTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00639.hp1 others(15): Show HG00408.hp1 HG00423.hp2 HG00639.hp1 HG02280.hp2 HG02523.hp1 HG02647.hp2 HG02735.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp1 NA18957.hp2 NA18998.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0005 a0002c0006	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0002c0005t0001 a0002c0006t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(15): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0094 a0001c0004t0001g0095 a0002c0002t0001g0017 a0002c0002t0001g0020 a0002c0002t0001g0026 a0002c0002t0001g0046 a0002c0005t0001g0058 a0002c0005t0001g0070 a0002c0005t0001g0071 a0002c0005t0001g0076 a0002c0006t0001g0034	18	96	0.1875	36	c.334 others(55): Show c.334-70781_334-70746dupATTGTATAAATATATTTATATAATAT TTATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80799238	T T	TTATATAT others(29): Show TTATATATATTGTATAAATATATTTATATAATATTTA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0082 a0002c0006t0001g0082	1	96	0.0104	36	c.334 others(55): Show c.334-70710_334-70675dupTTGTATAAATATATTTATATAATATT TATATATATA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(29): Show ACCCCCCCTCAACCTCTGGGCGGGCACGCGCACCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00639.hp2 others(19): Show HG00140.hp2 HG00639.hp1 HG00639.hp2 HG01099.hp2 HG01192.hp2 HG01978.hp1 HG02015.hp2 HG02300.hp1 HG02602.hp1 HG03225.hp1 HG03239.hp2 HG03688.hp1 HG03710.hp2 HG03942.hp2 HG04204.hp1 NA18948.hp2 NA18957.hp1 NA18977.hp2 NA19004.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0002t0002 a0002c0004t0002 others(2): Show a0001c0001t0001 a0001c0002t0002 a0002c0004t0002 a0003c0003t0002 a0003c0003t0028	a0001c0001t0001g0006 a0001c0001t0001g0065 a0001c0001t0001g0071 others(12): Show a0001c0001t0001g0006 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0120 a0001c0001t0001g0218 a0001c0002t0002g0049 a0001c0002t0002g0275 a0002c0004t0002g0239 a0002c0004t0002g0248 a0003c0003t0002g0044 a0003c0003t0028g0238	22	436	0.0505	36	c.143 others(53): Show c.143+1240_143+1241insGGGGGTGCGCGTGCCCGCCCAGAGGTTG AGGGGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP46_chr10_132803392_132947570	132887929	T T	TCCTCCCT others(29): Show TCCTCCCTCTTCTCTCCTCTCCTTCTTCTCTCCTCTC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0145 a0002c0003t0001g0145	1	246	0.0041	36	c.330 others(55): Show c.3305-1971_3305-1970insGAGAGGAGAGAAGAAGGAGAGGAGAG AAGAGGGAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132927297	A A	ACGTCCCG others(29): Show ACGTCCCGGGGAGCAGGTCCTCGGCGGCAGACGCCTC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02486.hp2 HG02615.hp2 others(4): Show HG01169.hp1 HG02486.hp2 HG02615.hp2 HG03017.hp1 HG03130.hp1 HG03486.hp2 HG03669.hp1	a0010 a0025 a0050 others(3): Show a0010 a0025 a0050 a0051 a0068 a0072	a0010c0072 a0025c0033 a0050c0104 others(3): Show a0010c0072 a0025c0033 a0050c0104 a0051c0105 a0068c0071 a0072c0075	a0010c0072t0002 a0025c0033t0001 a0025c0033t0003 others(4): Show a0010c0072t0002 a0025c0033t0001 a0025c0033t0003 a0050c0104t0001 a0051c0105t0001 a0068c0071t0002 a0072c0075t0001	a0010c0072t0002g0004 a0025c0033t0001g0238 a0025c0033t0003g0237 others(4): Show a0010c0072t0002g0004 a0025c0033t0001g0238 a0025c0033t0003g0237 a0050c0104t0001g0236 a0051c0105t0001g0239 a0068c0071t0002g0003 a0072c0075t0001g0235	7	246	0.0285	36	c.967 others(51): Show c.967-667_967-632dupGAGGCGTCTGCCGCCGAGGACCTGCTCCCC GGGACG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	9/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132927373	C C	CCCGGGGA others(29): Show CCCGGGGAGCAGGTCCTCGGCGGCAGACGCCTCCGTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02280.hp2 NA18906.hp1 HG01257.hp2 HG02280.hp2 NA18906.hp1	a0012 a0067 a0074 a0012 a0067 a0074	a0012c0025 a0067c0069 a0074c0109 a0012c0025 a0067c0069 a0074c0109	a0012c0025t0002 a0067c0069t0002 a0074c0109t0002 a0012c0025t0002 a0067c0069t0002 a0074c0109t0002	a0012c0025t0002g0014 a0067c0069t0002g0015 a0074c0109t0002g0104 a0012c0025t0002g0014 a0067c0069t0002g0015 a0074c0109t0002g0104	3	246	0.0122	36	c.967 others(51): Show c.967-708_967-707insCACGGAGGCGTCTGCCGCCGAGGACCTGCT CCCCGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	9/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132935489	T T	TGATCTCC others(29): Show TGATCTCCTCACTCCCCTCATCATCCAAACACACTGA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02486.hp2 HG03017.hp1 others(1): Show HG01169.hp1 HG02486.hp2 HG03017.hp1 HG03669.hp1	a0025 a0050 a0051 a0025 a0050 a0051	a0025c0033 a0050c0104 a0051c0105 a0025c0033 a0050c0104 a0051c0105	a0025c0033t0001 a0025c0033t0003 a0050c0104t0001 others(1): Show a0025c0033t0001 a0025c0033t0003 a0050c0104t0001 a0051c0105t0001	a0025c0033t0001g0238 a0025c0033t0003g0237 a0050c0104t0001g0236 others(1): Show a0025c0033t0001g0238 a0025c0033t0003g0237 a0050c0104t0001g0236 a0051c0105t0001g0239	4	246	0.0163	36	c.756 others(51): Show c.756-628_756-627insTCAGTGTGTTTGGATGATGAGGGGAGTGAG GAGATC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	7/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132935974	A A	ACATCCAA others(29): Show ACATCCAAACCCACCGTGATCTCCTCACTCCCCTCAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG03486.hp1 others(2): Show HG01891.hp2 HG02572.hp1 HG03486.hp1 NA18522.hp2 NA20300.hp2	a0008 a0017 a0026 others(1): Show a0008 a0017 a0026 a0059	a0008c0009 a0017c0026 a0026c0081 others(1): Show a0008c0009 a0017c0026 a0026c0081 a0059c0082	a0008c0009t0002 a0017c0026t0002 a0026c0081t0002 others(1): Show a0008c0009t0002 a0017c0026t0002 a0026c0081t0002 a0059c0082t0002	a0008c0009t0002g0101 a0017c0026t0002g0097 a0017c0026t0002g0099 others(2): Show a0008c0009t0002g0101 a0017c0026t0002g0097 a0017c0026t0002g0099 a0026c0081t0002g0098 a0059c0082t0002g0100	5	246	0.0203	36	c.755 others(51): Show c.755+986_755+987insATGAGGGGAGTGAGGAGATCACGGTGGGTT TGGATG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	7/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132936163	A A	ACACTGCG others(29): Show ACACTGCGATCTTCTCATTCCCCTCAGCACCCAAACC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02486.hp2 HG03017.hp1 others(1): Show HG01169.hp1 HG02486.hp2 HG03017.hp1 HG03669.hp1	a0025 a0050 a0051 a0025 a0050 a0051	a0025c0033 a0050c0104 a0051c0105 a0025c0033 a0050c0104 a0051c0105	a0025c0033t0001 a0025c0033t0003 a0050c0104t0001 others(1): Show a0025c0033t0001 a0025c0033t0003 a0050c0104t0001 a0051c0105t0001	a0025c0033t0001g0238 a0025c0033t0003g0237 a0050c0104t0001g0236 others(1): Show a0025c0033t0001g0238 a0025c0033t0003g0237 a0050c0104t0001g0236 a0051c0105t0001g0239	4	246	0.0163	36	c.755 others(51): Show c.755+797_755+798insGGTTTGGGTGCTGAGGGGAATGAGAAGATC GCAGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	7/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132936597	G G	GTGATCTC others(29): Show GTGATCTCCTCACTCCCCTTGGCATCCAAACACACCA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0010 a0010	a0010c0072 a0010c0072	a0010c0072t0002 a0010c0072t0002	a0010c0072t0002g0004 a0010c0072t0002g0004	1	246	0.0041	36	c.755 others(51): Show c.755+328_755+363dupTGGTGTGTTTGGATGCCAAGGGGAGTGAGG AGATCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	7/57			chr10	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(29): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18999.hp1 HG03453.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0117 a0001c0002t0001g0085 a0001c0002t0001g0117	2	316	0.0063	36	c.117 others(55): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAAA GAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(29): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp2 HG03139.hp1 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0027 a0002c0001t0001g0047 a0001c0002t0001g0027 a0002c0001t0001g0047	2	316	0.0063	36	c.117 others(55): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA GAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(29): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	316	0.0032	36	c.117 others(55): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP57_chr1_43167330_43259358	43180223	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0072 a0002c0005t0001g0072	1	308	0.0033	36	c.158 others(53): Show c.158-1295_158-1294insTATATATATATATATATATATATATATA TATATATA	CFAP57	ENSG00000243710.8	transcript	ENST00000372492.9	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP57_chr1_43167330_43259358	43180223	T T	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0001 a0002c0035t0001	a0002c0035t0001g0025 a0002c0035t0001g0025	1	308	0.0033	36	c.158 others(53): Show c.158-1310_158-1309insTTATATATATATATATATATATATATAT ATATATAT	CFAP57	ENSG00000243710.8	transcript	ENST00000372492.9	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP74_chr1_1916957_2008786	1955018	A A	AGGAAGTG others(29): Show AGGAAGTGCGGCTCACACCGGAAGTGCGGCTCACACC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0001 a0012c0014t0001	a0012c0014t0001g0041 a0012c0014t0001g0041	1	278	0.0036	36	c.217 others(53): Show c.2176+637_2176+672dupGGTGTGAGCCGCACTTCCGGTGTGAGCC GCACTTCC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	18/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1955018	A A	AGGAAGTG others(29): Show AGGAAGTGCGGCTCACACCGGAAGTGCGGCTCACATC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp1 HG03130.hp1 others(1): Show HG01243.hp1 HG02145.hp1 HG03130.hp1 HG03209.hp2	a0014 a0059 a0063 others(1): Show a0014 a0059 a0063 a0064	a0014c0051 a0059c0093 a0063c0040 others(1): Show a0014c0051 a0059c0093 a0063c0040 a0064c0060	a0014c0051t0001 a0059c0093t0001 a0063c0040t0001 others(1): Show a0014c0051t0001 a0059c0093t0001 a0063c0040t0001 a0064c0060t0001	a0014c0051t0001g0123 a0059c0093t0001g0072 a0063c0040t0001g0134 others(1): Show a0014c0051t0001g0123 a0059c0093t0001g0072 a0063c0040t0001g0134 a0064c0060t0001g0021	4	278	0.0144	36	c.217 others(53): Show c.2176+672_2176+673insGATGTGAGCCGCACTTCCGGTGTGAGCC GCACTTCC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	18/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1955062	C C	CGGCTCAC others(29): Show CGGCTCACACCGGAAGTGAGGCTCACACCGGAAGTGA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	278	0.0036	36	c.217 others(53): Show c.2176+628_2176+629insTCACTTCCGGTGTGAGCCTCACTTCCGG TGTGAGCC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	18/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1955080	C C	CGGCTCAC others(29): Show CGGCTCACACCGGAAGTGAGGCTCACACCGGAAGTGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(63): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG01070.hp1 HG01169.hp2 HG01175.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02080.hp2 HG02129.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp1 NA18747.hp2 NA18940.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18960.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18980.hp2 NA18983.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19064.hp2 NA19065.hp1 NA19087.hp2 NA19088.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(15): Show a0001 a0002 a0004 a0005 a0007 a0008 a0011 a0013 a0017 a0021 a0037 a0040 a0041 a0042 a0043 a0047 a0053 a0054	a0001c0001 a0001c0006 a0001c0020 others(21): Show a0001c0001 a0001c0006 a0001c0020 a0001c0022 a0001c0081 a0002c0008 a0004c0002 a0005c0007 a0007c0021 a0008c0009 a0008c0073 a0011c0010 a0013c0018 a0017c0030 a0017c0096 a0021c0033 a0037c0087 a0040c0082 a0041c0079 a0042c0080 a0043c0088 a0047c0085 a0053c0064 a0054c0065	a0001c0001t0001 a0001c0006t0001 a0001c0020t0001 others(21): Show a0001c0001t0001 a0001c0006t0001 a0001c0020t0001 a0001c0022t0001 a0001c0081t0001 a0002c0008t0002 a0004c0002t0001 a0005c0007t0001 a0007c0021t0001 a0008c0009t0001 a0008c0073t0001 a0011c0010t0001 a0013c0018t0001 a0017c0030t0001 a0017c0096t0001 a0021c0033t0001 a0037c0087t0001 a0040c0082t0001 a0041c0079t0001 a0042c0080t0001 a0043c0088t0001 a0047c0085t0001 a0053c0064t0001 a0054c0065t0001	a0001c0001t0001g0022 a0001c0001t0001g0095 a0001c0001t0001g0096 others(63): Show a0001c0001t0001g0022 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0006t0001g0020 a0001c0006t0001g0057 a0001c0006t0001g0094 a0001c0006t0001g0115 a0001c0006t0001g0160 a0001c0020t0001g0130 a0001c0020t0001g0131 a0001c0020t0001g0133 a0001c0022t0001g0117 a0001c0022t0001g0234 a0001c0081t0001g0196 a0002c0008t0002g0211 a0004c0002t0001g0089 a0004c0002t0001g0112 a0005c0007t0001g0172 a0007c0021t0001g0240 a0008c0009t0001g0103 a0008c0009t0001g0138 a0008c0009t0001g0149 a0008c0009t0001g0206 a0008c0073t0001g0242 a0011c0010t0001g0222 a0013c0018t0001g0023 a0013c0018t0001g0180 a0013c0018t0001g0181 a0013c0018t0001g0184 a0017c0030t0001g0045 a0017c0096t0001g0049 a0021c0033t0001g0008 a0021c0033t0001g0009 a0037c0087t0001g0197 a0040c0082t0001g0185 a0041c0079t0001g0274 a0042c0080t0001g0241 a0043c0088t0001g0137 a0047c0085t0001g0129 a0053c0064t0001g0055 a0054c0065t0001g0253	66	278	0.2374	36	c.217 others(53): Show c.2176+610_2176+611insTCACTTCCGGTGTGAGCCTCACTTCCGG TGTGAGCC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	18/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1955080	C C	CGGCTCAC others(29): Show CGGCTCACACCGGAAGTGCGGCTCACACCGGAAGTGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19030.hp1 HG02258.hp2 NA19030.hp1	a0005 a0058 a0005 a0058	a0005c0044 a0058c0092 a0005c0044 a0058c0092	a0005c0044t0001 a0058c0092t0001 a0005c0044t0001 a0058c0092t0001	a0005c0044t0001g0066 a0058c0092t0001g0037 a0005c0044t0001g0066 a0058c0092t0001g0037	2	278	0.0072	36	c.217 others(53): Show c.2176+610_2176+611insTCACTTCCGGTGTGAGCCGCACTTCCGG TGTGAGCC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	18/38			chr1	TogoVar
CFAP77_chr9_132405211_132578319	132486018	A A	ATATATAT others(29): Show ATATATATATATATATATGTATATGTATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0149 a0001c0002t0003g0149	1	322	0.0031	36	c.196 others(55): Show c.196-12660_196-12659insGTATATGTATGTGTGTGTGTATATAT ATATATATAT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69841164	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	380	0.0026	36	c.153 others(53): Show c.153-3320_153-3319insATATATATATATATATATATATATATAT ATATATAT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69841164	T T	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA19012.hp1 HG01358.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0114 a0001c0001t0001g0115	2	380	0.0053	36	c.153 others(53): Show c.153-3352_153-3351insTTATATATATATATATATATATATATAT ATATATAT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP99_chr4_2413955_2468002	2466647	T T	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG03688.hp1 HG03942.hp1 HG02738.hp1 HG03688.hp1 HG03942.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0007 a0002c0001 a0003c0007	a0002c0001t0001 a0003c0007t0001 a0002c0001t0001 a0003c0007t0001	a0002c0001t0001g0001 a0003c0007t0001g0250 a0003c0007t0001g0259 a0002c0001t0001g0001 a0003c0007t0001g0250 a0003c0007t0001g0259	3	350	0.0086	36	c.37 others(47): Show c.3721_*3722insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding		3646		chr4	TogoVar
CFDP1_chr16_75288710_75438503	75349682	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	314	0.0032	36	c.651 others(55): Show c.651-44501_651-44500insATATATATATATATATATATATATAT ATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar

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