Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TTC28_chr22_27973014_28684840	28395614	CAAAAAAA others(16): Show CAAAAAAAAAAACCAAACAAACAA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02922.hp2 HG02717.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0059 a0001c0008t0054 a0001c0002t0059 a0001c0008t0054	a0001c0002t0059g0054 a0001c0008t0054g0055 a0001c0002t0059g0054 a0001c0008t0054g0055	2	196	0.0102	-23	c.382 others(42): Show c.382-88994_382-88972delTTGTTTGTTTGGTTTTTTTTTTT	TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	2/22			chr22	TogoVar
TTC36_chr11_118522474_118535993	118531368	AGAACAGG others(16): Show AGAACAGGGCAGGAGAGAGGATGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	410	0.0024	-23	c.45 others(32): Show c.453_*475delGAACAGGGCAGGAGAGAGGATGG	TTC36	ENSG00000172425.12	transcript	ENST00000302783.10	protein_coding		376		chr11	TogoVar
TTC38_chr22_46263008_46299008	46276759	AAAAATAT others(16): Show AAAAATATATATTAAATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	232	0.0043	-23	c.539 others(40): Show c.539+1354_539+1376delTATATATTAAAATATATATTAAA	TTC38	ENSG00000075234.17	transcript	ENST00000381031.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
TTC39B_chr9_15158622_15312216	15166999	TATATATA others(16): Show TATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0210 a0001c0009t0210	a0001c0009t0210g0253 a0001c0009t0210g0253	1	262	0.0038	-23	c.49 others(34): Show c.4997_*5019delTATATATATATATATATATATAT	TTC39B	ENSG00000155158.20	transcript	ENST00000512701.7	protein_coding	20/20	4997		chr9	TogoVar
TTC39B_chr9_15158622_15312216	15167005	TATATATA others(16): Show TATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0047 a0001c0006t0047	a0001c0006t0047g0008 a0001c0006t0047g0008	1	262	0.0038	-23	c.49 others(34): Show c.4991_*5013delTATATATATATATATATATATAT	TTC39B	ENSG00000155158.20	transcript	ENST00000512701.7	protein_coding	20/20	4991		chr9	TogoVar
TTC39C_chr18_24009754_24140600	24045909	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG03041.hp1 others(1): Show HG02630.hp2 HG02717.hp1 HG03041.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0001t0053 a0001c0003t0023 a0001c0001t0010 a0001c0001t0053 a0001c0003t0023	a0001c0001t0010g0042 a0001c0001t0010g0222 a0001c0001t0053g0162 others(1): Show a0001c0001t0010g0042 a0001c0001t0010g0222 a0001c0001t0053g0162 a0001c0003t0023g0315	4	328	0.0122	-23	c.168 others(42): Show c.168-18229_168-18207delATATATATATATATATATTTTTT	TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
TTC39C_chr18_24009754_24140600	24045911	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19240.hp1 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0011 a0001c0001t0007g0008 a0001c0001t0003g0011 a0001c0001t0007g0008	2	328	0.0061	-23	c.168 others(42): Show c.168-18227_168-18205delATATATATATATATATTTTTTTT	TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
TTC3_chr21_37068254_37208107	37122417	ATAATATA others(16): Show ATAATATATATATATATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00597.hp2 others(139): Show HG00408.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18940.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0006 a0007 a0008 a0009 a0011 a0012 a0013	a0001c0005 a0001c0014 a0001c0023 others(12): Show a0001c0005 a0001c0014 a0001c0023 a0002c0002 a0003c0003 a0003c0013 a0003c0016 a0003c0018 a0006c0011 a0007c0009 a0008c0010 a0009c0008 a0011c0015 a0012c0017 a0013c0019	a0001c0005t0008 a0001c0014t0006 a0001c0023t0008 others(22): Show a0001c0005t0008 a0001c0014t0006 a0001c0023t0008 a0002c0002t0001 a0002c0002t0014 a0002c0002t0018 a0002c0002t0019 a0002c0002t0020 a0002c0002t0021 a0003c0003t0001 a0003c0003t0011 a0003c0003t0012 a0003c0003t0017 a0003c0003t0023 a0003c0003t0024 a0003c0013t0001 a0003c0016t0001 a0003c0018t0001 a0006c0011t0001 a0007c0009t0006 a0008c0010t0006 a0009c0008t0006 a0011c0015t0001 a0012c0017t0001 a0013c0019t0001	a0001c0005t0008g0277 a0001c0005t0008g0296 a0001c0014t0006g0335 others(137): Show a0001c0005t0008g0277 a0001c0005t0008g0296 a0001c0014t0006g0335 a0001c0023t0008g0293 a0002c0002t0001g0174 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0216 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0270 a0002c0002t0001g0281 a0002c0002t0001g0283 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0014g0188 a0002c0002t0018g0210 a0002c0002t0019g0250 a0002c0002t0020g0190 a0002c0002t0021g0232 a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0134 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0215 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0001g0257 a0003c0003t0001g0258 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0266 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0276 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0280 a0003c0003t0001g0282 a0003c0003t0001g0288 a0003c0003t0001g0289 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0294 a0003c0003t0001g0295 a0003c0003t0001g0300 a0003c0003t0001g0302 a0003c0003t0011g0284 a0003c0003t0011g0285 a0003c0003t0011g0286 a0003c0003t0011g0287 a0003c0003t0012g0268 a0003c0003t0012g0269 a0003c0003t0017g0264 a0003c0003t0023g0290 a0003c0003t0024g0267 a0003c0013t0001g0254 a0003c0016t0001g0275 a0003c0018t0001g0265 a0006c0011t0001g0135 a0006c0011t0001g0136 a0006c0011t0001g0305 a0007c0009t0006g0297 a0007c0009t0006g0298 a0007c0009t0006g0299 a0008c0010t0006g0172 a0008c0010t0006g0173 a0008c0010t0006g0249 a0009c0008t0006g0175 a0009c0008t0006g0176 a0009c0008t0006g0177 a0011c0015t0001g0200 a0012c0017t0001g0217 a0013c0019t0001g0301	142	340	0.4177	-23	c.106 others(40): Show c.1063+439_1063+461delTAATATATATATATATATATTAT	TTC3	ENSG00000182670.14	transcript	ENST00000418766.6	protein_coding	12/45			chr21	TogoVar
TTC4_chr1_54710861_54747657	54736222	GAAGAGGA others(16): Show GAAGAGGAGAGGAGAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG01517.hp2 others(12): Show HG00408.hp1 HG00621.hp2 HG01517.hp2 HG02647.hp1 HG03942.hp2 NA18612.hp1 NA18943.hp2 NA18946.hp1 NA18971.hp2 NA18991.hp1 NA19011.hp1 NA19056.hp1 NA19058.hp1 NA19075.hp1 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0004t0003 a0001c0003t0003 a0001c0004t0003	a0001c0003t0003g0014 a0001c0003t0003g0061 a0001c0003t0003g0259 others(8): Show a0001c0003t0003g0014 a0001c0003t0003g0061 a0001c0003t0003g0259 a0001c0003t0003g0261 a0001c0003t0003g0263 a0001c0003t0003g0278 a0001c0003t0003g0279 a0001c0003t0003g0281 a0001c0003t0003g0284 a0001c0004t0003g0234 a0001c0004t0003g0241	15	398	0.0377	-23	c.979 others(40): Show c.979-1359_979-1337delAAGAGGAGAGGAGAGAGAAGAGA	TTC4	ENSG00000243725.7	transcript	ENST00000371281.4	protein_coding	8/9			chr1	TogoVar
TTC4_chr1_54710861_54747657	54740139	CACTCCAG others(16): Show CACTCCAGCCTAGGTGAGAGTGAG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp2 HG01517.hp2 others(10): Show HG01074.hp1 HG01243.hp2 HG01517.hp2 HG01891.hp2 HG02300.hp1 HG02602.hp1 HG02647.hp1 HG02735.hp2 HG02809.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0233 a0001c0004t0003g0234 a0001c0004t0003g0235 others(10): Show a0001c0004t0003g0233 a0001c0004t0003g0234 a0001c0004t0003g0235 a0001c0004t0003g0236 a0001c0004t0003g0237 a0001c0004t0003g0238 a0001c0004t0003g0239 a0001c0004t0003g0240 a0001c0004t0003g0241 a0001c0004t0003g0242 a0001c0004t0003g0243 a0001c0004t0003g0244 a0001c0004t0003g0245	13	398	0.0327	-23	c.106 others(42): Show c.1062-1269_1062-1247delTCCAGCCTAGGTGAGAGTGAGAC	TTC4	ENSG00000243725.7	transcript	ENST00000371281.4	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
TTC6_chr14_37590629_37847717	37651411	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0152 a0003c0003t0001g0152	1	220	0.0046	-23	c.939 others(42): Show c.939+28410_939+28432delATATATATATATATTTTTTTTTT	TTC6	ENSG00000139865.17	transcript	ENST00000553443.6	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTC6_chr14_37590629_37847717	37651413	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03669.hp2 NA18995.hp1 others(1): Show HG03654.hp1 HG03669.hp2 NA18995.hp1 NA19060.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0005 a0002c0009 others(1): Show a0001c0002 a0001c0005 a0002c0009 a0004c0004	a0001c0002t0001 a0001c0005t0002 a0002c0009t0001 others(1): Show a0001c0002t0001 a0001c0005t0002 a0002c0009t0001 a0004c0004t0001	a0001c0002t0001g0192 a0001c0005t0002g0165 a0002c0009t0001g0189 others(1): Show a0001c0002t0001g0192 a0001c0005t0002g0165 a0002c0009t0001g0189 a0004c0004t0001g0168	4	220	0.0182	-23	c.939 others(42): Show c.939+28412_939+28434delATATATATATATTTTTTTTTTTT	TTC6	ENSG00000139865.17	transcript	ENST00000553443.6	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTC6_chr14_37590629_37847717	37651415	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0191 a0003c0003t0001g0191	1	220	0.0046	-23	c.939 others(42): Show c.939+28414_939+28436delATATATATATTTTTTTTTTTTTT	TTC6	ENSG00000139865.17	transcript	ENST00000553443.6	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTC6_chr14_37590629_37847717	37651417	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0193 a0003c0003t0001g0193	1	220	0.0046	-23	c.939 others(42): Show c.939+28416_939+28438delATATATATTTTTTTTTTTTTTTT	TTC6	ENSG00000139865.17	transcript	ENST00000553443.6	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTC9C_chr11_62723486_62743636	62739326	GGCTGAGG others(16): Show GGCTGAGGCAGGAGAATGGCATGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	368	0.0027	-23	c.94 others(32): Show c.945_*967delGCTGAGGCAGGAGAATGGCATGA	TTC9C	ENSG00000162222.14	transcript	ENST00000316461.9	protein_coding		691		chr11	TogoVar
TTF1_chr9_132370548_132411840	132377430	GGTGTGAG others(16): Show GGTGTGAGTGCATGCATGTGGTGT	G G	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0002 a0001c0023t0002	a0001c0023t0002g0073 a0001c0023t0002g0073	1	400	0.0025	-23	c.246 others(42): Show c.2465-1285_2465-1263delACACCACATGCATGCACTCACAC	TTF1	ENSG00000125482.13	transcript	ENST00000334270.3	protein_coding	10/10			chr9	TogoVar
TTF1_chr9_132370548_132411840	132377633	GGTGCGTG others(16): Show GGTGCGTGTGAATGCATGTGGTGT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0175 a0006c0008t0001g0175	1	400	0.0025	-23	c.246 others(42): Show c.2464+1403_2464+1425delACACCACATGCATTCACACGCAC	TTF1	ENSG00000125482.13	transcript	ENST00000334270.3	protein_coding	10/10			chr9	TogoVar
TTI2_chr8_33493722_33518135	33495685	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02723.hp1 HG02970.hp2 others(1): Show HG02257.hp2 HG02723.hp1 HG02970.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0158 a0002c0003t0001g0065 a0002c0003t0001g0066 others(1): Show a0002c0002t0001g0158 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067	4	398	0.0101	-23	c.34 others(34): Show c.3465_*3487delAAAAAAAAAAAAAAAAAAAAAAA	TTI2	ENSG00000129696.13	transcript	ENST00000431156.7	protein_coding		3036		chr8	TogoVar
TTLL10_chr1_1168880_1202936	1176020	AGAGAGGC others(16): Show AGAGAGGCTGACGCTGTGCAGGTG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0031 a0031	a0031c0054 a0031c0054	a0031c0054t0003 a0031c0054t0003	a0031c0054t0003g0079 a0031c0054t0003g0079	1	382	0.0026	-23	c.-28 others(40): Show c.-28+1560_-28+1582delGCTGACGCTGTGCAGGTGGAGAG	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL11_chr9_121810674_122098308	122095910	AAAAAAAC others(16): Show AAAAAAACATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0059 a0001c0001t0055g0059	1	174	0.0058	-23	c.-27 others(34): Show c.-2785_-2763delATATATATATATATATGTTTTTT	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding		2603		chr9	TogoVar
TTLL11_chr9_121810674_122098308	122095916	ACATATAT others(16): Show ACATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0011 a0001c0007t0011	a0001c0007t0011g0060 a0001c0007t0011g0060	1	174	0.0058	-23	c.-27 others(34): Show c.-2791_-2769delATATATATATATATATATATATG	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding		2609		chr9	TogoVar
TTLL13_chr15_90244556_90270477	90244713	GGAGGCTG others(16): Show GGAGGCTGAGGCAGGAGAATCACT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	432	0.0023	-23	c.-51 others(34): Show c.-5106_-5084delGAGGCTGAGGCAGGAGAATCACT	TTLL13	ENSG00000213471.10	transcript	ENST00000641754.2	protein_coding		4842		chr15	TogoVar
TTLL13_chr15_90244556_90270477	90256621	CCTTCCTT others(16): Show CCTTCCTTCCTTCCTTCCTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01884.hp2 HG02622.hp2 others(4): Show HG01074.hp2 HG01884.hp2 HG02622.hp2 HG02717.hp1 HG02922.hp1 HG02965.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0029 a0001c0001t0004g0051 others(1): Show a0001c0001t0004g0014 a0001c0001t0004g0029 a0001c0001t0004g0051 a0001c0001t0004g0149	7	432	0.0162	-23	c.705 others(38): Show c.705+328_705+350delCCTTCCTTCCTTCCTTCTTTCTT	TTLL13	ENSG00000213471.10	transcript	ENST00000641754.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
TTLL6_chr17_48757234_48822229	48810802	ATACACAT others(16): Show ATACACATATATAGTATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0233 a0001c0017t0001g0233	1	330	0.0030	-23	c.104 others(40): Show c.104-5834_104-5812delCACACACATACTATATATGTGTA	TTLL6	ENSG00000170703.16	transcript	ENST00000393382.8	protein_coding	1/15			chr17	TogoVar
TTN_chr2_178520989_178812423	178699383	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18612.hp2 HG01255.hp2 NA18612.hp2	a0033 a0070 a0033 a0070	a0033c0160 a0070c0152 a0033c0160 a0070c0152	a0033c0160t0002 a0070c0152t0002 a0033c0160t0002 a0070c0152t0002	a0033c0160t0002g0024 a0070c0152t0002g0088 a0033c0160t0002g0024 a0070c0152t0002g0088	2	242	0.0083	-23	c.306 others(42): Show c.30683-492_30683-470delAAAAAAAAAAAAAAAAAAAAAAA	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	111/362			chr2	TogoVar
TUBB4A_chr19_6489319_6507309	6497021	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 NA18522.hp1 HG02896.hp1 HG02897.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0022 a0001c0002t0017 a0001c0002t0022	a0001c0002t0017g0076 a0001c0002t0022g0075 a0001c0002t0022g0077 a0001c0002t0017g0076 a0001c0002t0022g0075 a0001c0002t0022g0077	3	428	0.0070	-23	c.278 others(38): Show c.278-823_278-801delATATATATATATATATATATTTT	TUBB4A	ENSG00000104833.12	transcript	ENST00000264071.7	protein_coding	3/3			chr19	TogoVar
TUBB4A_chr19_6489319_6507309	6497023	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02965.hp1 HG02109.hp1 HG02572.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0017 a0001c0002t0003 a0001c0002t0017	a0001c0002t0003g0074 a0001c0002t0017g0018 a0001c0002t0003g0074 a0001c0002t0017g0018	3	428	0.0070	-23	c.278 others(38): Show c.278-825_278-803delATATATATATATATATATATATT	TUBB4A	ENSG00000104833.12	transcript	ENST00000264071.7	protein_coding	3/3			chr19	TogoVar
TUBB_chr6_30715352_30730422	30721940	ATCCTGGG others(16): Show ATCCTGGGCAACAAAGCGAGACCC	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	431	0.0023	-23	c.58- others(36): Show c.58-593_58-571delTGGGCAACAAAGCGAGACCCTCC	TUBB	ENSG00000196230.14	transcript	ENST00000327892.13	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
TUBD1_chr17_59854479_59897943	59865342	AGGTCTGC others(16): Show AGGTCTGCAGTTTGAGACCAGCCT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01952.hp1 HG01975.hp2 others(2): Show HG01934.hp2 HG01952.hp1 HG01975.hp2 HG02004.hp2 NA18993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0190 others(2): Show a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0192	5	360	0.0139	-23	c.107 others(42): Show c.1075+1244_1075+1266delAGGCTGGTCTCAAACTGCAGACC	TUBD1	ENSG00000108423.15	transcript	ENST00000325752.8	protein_coding	7/8			chr17	TogoVar
TULP3_chr12_2885891_2946138	2911664	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0138 a0002c0003t0005g0138	1	372	0.0027	-23	c.93+ others(38): Show c.93+2105_93+2127delTTTTTTTTTTTTTTTTTTTTTTT	TULP3	ENSG00000078246.17	transcript	ENST00000448120.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
TULP4_chr6_158307465_158516828	158332187	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03041.hp1 HG02615.hp1 HG03041.hp1	a0001 a0001	a0001c0008 a0001c0050 a0001c0008 a0001c0050	a0001c0008t0029 a0001c0050t0029 a0001c0008t0029 a0001c0050t0029	a0001c0008t0029g0182 a0001c0050t0029g0215 a0001c0008t0029g0182 a0001c0050t0029g0215	2	268	0.0075	-23	c.252 others(42): Show c.252+17921_252+17943delAAAAAAAAAAAAATATATATATA	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TUSC3_chr8_15535263_15771638	15536681	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00438.hp2 others(79): Show HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01258.hp2 HG01433.hp2 HG01884.hp2 HG01975.hp1 HG02040.hp1 HG02055.hp1 HG02109.hp1 HG02129.hp2 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02698.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18986.hp1 NA18994.hp1 NA18998.hp1 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp2 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(9): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0026 a0001c0001t0043 a0001c0001t0045 a0001c0002t0019	a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0003g0030 others(79): Show a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0202 a0001c0001t0007g0083 a0001c0001t0007g0084 a0001c0001t0007g0085 a0001c0001t0007g0100 a0001c0001t0007g0101 a0001c0001t0007g0102 a0001c0001t0007g0103 a0001c0001t0007g0106 a0001c0001t0007g0107 a0001c0001t0008g0204 a0001c0001t0011g0040 a0001c0001t0011g0041 a0001c0001t0011g0048 a0001c0001t0011g0058 a0001c0001t0011g0059 a0001c0001t0013g0027 a0001c0001t0013g0035 a0001c0001t0013g0067 a0001c0001t0013g0072 a0001c0001t0017g0032 a0001c0001t0017g0033 a0001c0001t0017g0078 a0001c0001t0018g0064 a0001c0001t0018g0066 a0001c0001t0020g0156 a0001c0001t0020g0157 a0001c0001t0026g0025 a0001c0001t0026g0026 a0001c0001t0043g0028 a0001c0001t0045g0044 a0001c0002t0019g0158	82	372	0.2204	-23	c.-37 others(34): Show c.-3749_-3727delAAAAAAAAAAAAAAAAAAAAAAA	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding		3581		chr8	TogoVar
TUSC3_chr8_15535263_15771638	15719495	TCACACAC others(16): Show TCACACACACACACACACACACCA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02451.hp1 others(7): Show HG01891.hp1 HG02258.hp1 HG02451.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG03130.hp1 HG03195.hp2 NA18522.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0004 a0001c0002t0014 others(2): Show a0001c0001t0001 a0001c0002t0004 a0001c0002t0014 a0001c0002t0029 a0001c0005t0040	a0001c0001t0001g0181 a0001c0002t0004g0114 a0001c0002t0004g0116 others(7): Show a0001c0001t0001g0181 a0001c0002t0004g0114 a0001c0002t0004g0116 a0001c0002t0004g0172 a0001c0002t0004g0173 a0001c0002t0004g0174 a0001c0002t0014g0124 a0001c0002t0014g0126 a0001c0002t0029g0125 a0001c0005t0040g0122	10	372	0.0269	-23	c.799 others(42): Show c.799-11149_799-11127delCACACACACACACACACACACAC	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TUSC3_chr8_15535263_15771638	15746859	ACTATGCT others(16): Show ACTATGCTGTATCTGGGTCCTGGT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02717.hp1 others(1): Show HG02257.hp2 HG02572.hp1 HG02717.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0027 a0001c0001t0012 a0001c0001t0027	a0001c0001t0012g0366 a0001c0001t0012g0367 a0001c0001t0012g0369 others(1): Show a0001c0001t0012g0366 a0001c0001t0012g0367 a0001c0001t0012g0369 a0001c0001t0027g0368	4	372	0.0108	-23	c.938 others(40): Show c.938-1515_938-1493delCTATGCTGTATCTGGGTCCTGGT	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	8/10			chr8	TogoVar
TVP23A_chr16_10761675_10823794	10820463	TATATATA others(16): Show TATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	410	0.0024	-23	c.-19 others(34): Show c.-1993_-1971delTATATATATATATATATATATAT	TVP23A	ENSG00000166676.17	transcript	ENST00000299866.13	protein_coding		1670		chr16	TogoVar
TXNDC8_chr9_110298476_110342863	110299957	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0382 a0001c0001t0001g0382	1	416	0.0024	-23	c.37 others(34): Show c.3702_*3724delATATATATATATATATATATATA	TXNDC8	ENSG00000204193.12	transcript	ENST00000423740.7	protein_coding		3518		chr9	TogoVar
TXNDC8_chr9_110298476_110342863	110299959	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03041.hp2 HG03453.hp2 HG02976.hp2 HG03041.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0271 a0001c0001t0001g0334 a0001c0001t0001g0018 a0001c0001t0001g0271 a0001c0001t0001g0334	3	416	0.0072	-23	c.37 others(34): Show c.3700_*3722delAAATATATATATATATATATATA	TXNDC8	ENSG00000204193.12	transcript	ENST00000423740.7	protein_coding		3516		chr9	TogoVar
TXNL4A_chr18_79965813_79993563	79969371	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0115 a0001c0001t0006g0115	1	390	0.0026	-23	c.42 others(34): Show c.4291_*4313delTTTCTTTCTTTCTTTCTTTCTTT	TXNL4A	ENSG00000141759.15	transcript	ENST00000269601.10	protein_coding		1441		chr18	TogoVar
TYMS_chr18_652653_678578	666895	GGTGATGG others(16): Show GGTGATGGAGATGGTGATGGTGAT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0350 a0001c0001t0003g0350	1	482	0.0021	-23	c.455 others(40): Show c.455-2175_455-2153delTGATGGAGATGGTGATGGTGATG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYSND1_chr10_70132981_70151700	70133133	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0045 a0001c0002t0007g0093 a0001c0002t0007g0045 a0001c0002t0007g0093	2	458	0.0044	-23	c.67 others(34): Show c.6768_*6790delCTCTCTCTCTCTCTCTCTCTCTC	TYSND1	ENSG00000156521.14	transcript	ENST00000287078.7	protein_coding		4847		chr10	TogoVar
TYW1B_chr7_72569513_72833200	72632437	CGTATATA others(16): Show CGTATATATATAAAATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp2 HG02647.hp2 HG02809.hp2	a0001 a0001	a0001c0007 a0001c0019 a0001c0007 a0001c0019	a0001c0007t0001 a0001c0019t0001 a0001c0007t0001 a0001c0019t0001	a0001c0007t0001g0188 a0001c0019t0001g0088 a0001c0007t0001g0188 a0001c0019t0001g0088	2	286	0.0070	-23	c.150 others(42): Show c.1507-3463_1507-3441delATATATATATTTTATATATATAC	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13			chr7	TogoVar
TYW1_chr7_66991833_67244514	67243391	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01069.hp1 others(71): Show HG00639.hp2 HG00642.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01243.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01993.hp2 HG02109.hp1 HG02165.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18946.hp2 NA18957.hp1 NA18970.hp1 NA18975.hp1 NA18981.hp2 NA18985.hp1 NA18990.hp1 NA18994.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19077.hp2 NA19086.hp1 NA19240.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0011	a0001c0001 a0002c0003 a0002c0004 others(10): Show a0001c0001 a0002c0003 a0002c0004 a0002c0007 a0003c0005 a0004c0006 a0004c0011 a0005c0010 a0005c0016 a0005c0017 a0008c0009 a0010c0012 a0011c0020	a0001c0001t0001 a0002c0003t0002 a0002c0003t0004 others(13): Show a0001c0001t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0013 a0002c0004t0002 a0002c0004t0004 a0002c0007t0002 a0003c0005t0002 a0004c0006t0005 a0004c0011t0005 a0005c0010t0005 a0005c0016t0005 a0005c0017t0005 a0008c0009t0004 a0010c0012t0002 a0011c0020t0008	a0001c0001t0001g0261 a0002c0003t0002g0123 a0002c0003t0002g0124 others(71): Show a0001c0001t0001g0261 a0002c0003t0002g0123 a0002c0003t0002g0124 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0214 a0002c0003t0002g0221 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0225 a0002c0003t0002g0226 a0002c0003t0002g0228 a0002c0003t0002g0229 a0002c0003t0002g0230 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0002g0240 a0002c0003t0002g0241 a0002c0003t0002g0242 a0002c0003t0002g0243 a0002c0003t0002g0244 a0002c0003t0002g0245 a0002c0003t0002g0247 a0002c0003t0002g0248 a0002c0003t0002g0249 a0002c0003t0002g0251 a0002c0003t0002g0252 a0002c0003t0002g0254 a0002c0003t0002g0255 a0002c0003t0002g0363 a0002c0003t0004g0172 a0002c0003t0004g0205 a0002c0003t0004g0206 a0002c0003t0004g0207 a0002c0003t0013g0219 a0002c0004t0002g0289 a0002c0004t0004g0282 a0002c0004t0004g0287 a0002c0004t0004g0290 a0002c0004t0004g0293 a0002c0004t0004g0295 a0002c0004t0004g0296 a0002c0004t0004g0297 a0002c0004t0004g0298 a0002c0004t0004g0299 a0002c0004t0004g0300 a0002c0004t0004g0355 a0002c0004t0004g0357 a0002c0004t0004g0360 a0002c0004t0004g0361 a0002c0004t0004g0362 a0002c0007t0002g0232 a0002c0007t0002g0238 a0003c0005t0002g0012 a0003c0005t0002g0195 a0003c0005t0002g0196 a0003c0005t0002g0197 a0003c0005t0002g0198 a0003c0005t0002g0199 a0003c0005t0002g0200 a0003c0005t0002g0201 a0003c0005t0002g0203 a0003c0005t0002g0204 a0004c0006t0005g0008 a0004c0006t0005g0107 a0004c0006t0005g0250 a0004c0006t0005g0364 a0004c0011t0005g0354 a0005c0010t0005g0359 a0005c0016t0005g0143 a0005c0017t0005g0122 a0008c0009t0004g0294 a0010c0012t0002g0227 a0011c0020t0008g0213	74	364	0.2033	-23	c.48 others(34): Show c.4863_*4885delTATATATATATATATATTTTTTT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding		3878		chr7	TogoVar
TYW3_chr1_74728152_74771677	74733043	GGCTCCAC others(16): Show GGCTCCACCCAGGATGTGCGCCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG01891.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0014 a0001c0001t0012 a0001c0001t0014	a0001c0001t0012g0137 a0001c0001t0014g0055 a0001c0001t0012g0137 a0001c0001t0014g0055	2	332	0.0060	-23	c.-20 others(32): Show c.-201_-179delGCTCCACCCAGGATGTGCGCCTC	TYW3	ENSG00000162623.16	transcript	ENST00000370867.8	protein_coding		108		chr1	TogoVar
UBAC2_chr13_99195854_99391504	99287628	CTTTTTTT others(16): Show CTTTTTTTTTTCTTTCTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	380	0.0026	-23	c.390 others(42): Show c.390-26458_390-26436delCTTTCTTTTTTTTTTTTTTTTTT	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAP1_chr9_34174043_34257523	34218250	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(119): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02602.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA18995.hp2 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19066.hp2 NA19067.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0002c0002t0001 a0003c0003t0001 a0004c0004t0003	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(119): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0340 a0001c0001t0002g0163 a0001c0001t0002g0226 a0001c0001t0002g0253 a0001c0001t0002g0265 a0001c0001t0003g0046 a0001c0001t0003g0170 a0001c0001t0006g0161 a0001c0001t0011g0079 a0002c0002t0001g0015 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0003c0003t0001g0017 a0004c0004t0003g0048	122	342	0.3567	-23	c.-7- others(38): Show c.-7-2636_-7-2614delAAAAAAAAAAAAAAAAAAAAAAA	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBASH3A_chr21_42398902_42452684	42399354	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00597.hp1 others(49): Show HG00099.hp1 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01175.hp2 HG01433.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02698.hp1 HG02717.hp2 HG03017.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18955.hp2 NA18959.hp2 NA18986.hp1 NA18989.hp2 NA18993.hp2 NA19000.hp1 NA19001.hp2 NA19006.hp1 NA19030.hp1 NA19030.hp2 NA19070.hp1 NA19087.hp2 NA20129.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0011	a0002c0001 a0002c0005 a0002c0012 others(6): Show a0002c0001 a0002c0005 a0002c0012 a0002c0017 a0003c0006 a0003c0018 a0003c0043 a0005c0011 a0011c0035	a0002c0001t0001 a0002c0001t0004 a0002c0005t0001 others(10): Show a0002c0001t0001 a0002c0001t0004 a0002c0005t0001 a0002c0005t0002 a0002c0012t0001 a0002c0017t0001 a0003c0006t0001 a0003c0006t0002 a0003c0018t0001 a0003c0018t0002 a0003c0043t0001 a0005c0011t0003 a0011c0035t0001	a0002c0001t0001g0009 a0002c0001t0001g0023 a0002c0001t0001g0028 others(43): Show a0002c0001t0001g0009 a0002c0001t0001g0023 a0002c0001t0001g0028 a0002c0001t0001g0048 a0002c0001t0001g0049 a0002c0001t0001g0101 a0002c0001t0001g0104 a0002c0001t0004g0051 a0002c0005t0001g0008 a0002c0005t0001g0022 a0002c0005t0001g0024 a0002c0005t0001g0063 a0002c0005t0001g0086 a0002c0005t0001g0087 a0002c0005t0001g0090 a0002c0005t0001g0092 a0002c0005t0001g0093 a0002c0005t0001g0094 a0002c0005t0001g0095 a0002c0005t0001g0096 a0002c0005t0001g0137 a0002c0005t0002g0007 a0002c0005t0002g0085 a0002c0005t0002g0088 a0002c0012t0001g0148 a0002c0017t0001g0025 a0003c0006t0001g0066 a0003c0006t0001g0081 a0003c0006t0001g0153 a0003c0006t0002g0001 a0003c0006t0002g0002 a0003c0006t0002g0061 a0003c0006t0002g0067 a0003c0006t0002g0069 a0003c0006t0002g0070 a0003c0006t0002g0071 a0003c0006t0002g0072 a0003c0006t0002g0073 a0003c0006t0002g0074 a0003c0006t0002g0078 a0003c0006t0002g0079 a0003c0018t0001g0077 a0003c0018t0002g0076 a0003c0043t0001g0064 a0005c0011t0003g0060 a0011c0035t0001g0024	52	408	0.1275	-23	c.-45 others(34): Show c.-4591_-4569delAAAAAAAAAAAAAAAAAAAAAAA	UBASH3A	ENSG00000160185.15	transcript	ENST00000319294.11	protein_coding		4547		chr21	TogoVar
UBE2J2_chr1_1248912_1278854	1259125	ACGTGTGT others(16): Show ACGTGTGTGCATGCCATCAGGACG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02895.hp1 others(4): Show HG01516.hp1 HG01517.hp1 HG02895.hp1 HG03209.hp1 HG04184.hp2 NA19030.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0015 a0001c0001t0008g0016 a0001c0001t0008g0017 others(4): Show a0001c0001t0008g0015 a0001c0001t0008g0016 a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0020 a0001c0001t0008g0021	7	324	0.0216	-23	c.173 others(40): Show c.173-1838_173-1816delCGTCCTGATGGCATGCACACACG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding	3/6			chr1	TogoVar
UBE2QL1_chr5_6443859_6501723	6445643	CTTTTCTT others(16): Show CTTTTCTTTTCTTTTCTTTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03486.hp2 NA20300.hp1 HG03139.hp1 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0205 a0001c0001t0003g0018 a0001c0001t0003g0205	3	340	0.0088	-23	c.-32 others(34): Show c.-3250_-3228delTTTTCTTTTCTTTTCTTTTCTTT	UBE2QL1	ENSG00000215218.4	transcript	ENST00000399816.4	protein_coding		3215		chr5	TogoVar
UBE2QL1_chr5_6443859_6501723	6447480	CACACCAC others(16): Show CACACCACACACACTCACACACCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0149 a0001c0001t0013g0149	1	340	0.0029	-23	c.-14 others(34): Show c.-1413_-1391delACACCACACACACTCACACACCA	UBE2QL1	ENSG00000215218.4	transcript	ENST00000399816.4	protein_coding		1378		chr5	TogoVar
UBE3C_chr7_157133926_157274370	157171682	ATATATTT others(16): Show ATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03453.hp1 HG02976.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0030 a0001c0001t0016 a0001c0001t0030	a0001c0001t0016g0103 a0001c0001t0030g0021 a0001c0001t0016g0103 a0001c0001t0030g0021	2	322	0.0062	-23	c.342 others(40): Show c.342+1234_342+1256delATATTTTTTTTTTTTTTTTTTTT	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar

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