JoGo: Joint Open Genome and Omics Platform

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
ASAP1_chr8_130047104_130448674	130049816	GGAGAACA others(303): Show GGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACAC ATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGC AGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAA TACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGG GGGCAGAGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGG AGAACACATGGAGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACA TGGGGGGCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0125 a0002c0002t0003g0125	1	308	0.0033	-310	c.46 others(11): Show c.4605_*4914del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2287		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049868	GGGGGCAG others(303): Show GGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAG AGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATA CATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGG GCAGAGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAG AACACATGGAGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATG GGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGA GGAGAACACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0117 a0002c0002t0003g0117	1	308	0.0033	-310	c.45 others(11): Show c.4553_*4862del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2235		chr8	TogoVar
ATP6V1E1_chr22_17587136_17633749	17616750	GAAAGAGT others(303): Show GAAAGAGTCATACAAGAGGCCAGGCGCGGTGGCTCAAGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp2 others(123): Show HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18943.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19003.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19065.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0007 others(1): Show a0001c0001 a0001c0002 a0003c0007 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0002t0009 a0003c0007t0002 a0004c0008t0002	a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0141 others(117): Show a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0002g0320 a0001c0001t0003g0238 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0003g0268 a0001c0001t0003g0272 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0282 a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0306 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0004g0010 a0001c0001t0004g0194 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0227 a0001c0001t0004g0305 a0001c0001t0005g0138 a0001c0001t0005g0149 a0001c0001t0014g0324 a0001c0002t0009g0285 a0003c0007t0002g0233 a0004c0008t0002g0193	126	370	0.3405	-310	c.99+ others(15): Show c.99+2401_99+2710del	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	2/8			chr22	TogoVar
BGLAP_chr1_156237184_156248317	156237478	ACTCTGTT others(303): Show ACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAA CCTCCACTTCCCAGGTTCAAGCCATTCTCATGCCTCAGCCTCCTGAGTAG CTGGGATTCCAGGCATGAGCTGCCACACCCAGCTAAATTTTGTATTTTTA ATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGG CTCAAGCAATTCACCCACCTCAGCCTCACAACGTGCTGGGATTACAGACT TGAGCCACCACACCTGGCCCCAGAAATGTTCTATTTCAACTTTGTTTTTG AGACAGTCTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	-310	c.-47 others(11): Show c.-4753_-4444del	BGLAP	ENSG00000242252.2	transcript	ENST00000368272.5	protein_coding		4705		chr1	TogoVar
BPHL_chr6_3113711_3158578	3146451	GGAGTGCT others(303): Show GGAGTGCTGGTTCGGGTTGGAGTGCTGGTTCCAGCTGGAGTGCTGGTTTG GGGTGGAGTGCTGGTGTGGGTCGGAGTGCTGGTTTGGGTCGAGTGCTGGT TTGGGTCGGGAGTGCTGGTTCGGGGTGGAGTACTGGTTTGGGTTCGGGGT GGAGTGCTGGTTCAGGGTGGAGTGCTGGTTCGGGTCGGAGTGCTGGTTCG GGGTGGAGTGCTGGTGTGGTTTGGAGTGCTGGTTCCAGTTGAGTGCTGAT TTGGGTCGGAGTGCTGGTTTGGGTTGAGTGCTGGTTTGGGTCGGAGTGCT GGTTTGGGTCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01884.hp1 HG01884.hp2 others(28): Show HG00280.hp1 HG01884.hp1 HG01884.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03927.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18944.hp2 NA18979.hp2 NA19011.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0006 a0001c0001 a0001c0005 a0003c0006	a0001c0001t0002 a0001c0001t0004 a0001c0005t0002 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0005t0002 a0003c0006t0002	a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0043 others(23): Show a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0144 a0001c0001t0002g0228 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0004g0015 a0001c0001t0004g0039 a0001c0001t0004g0044 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0005t0002g0045 a0003c0006t0002g0229 a0003c0006t0002g0230 a0003c0006t0002g0231 a0003c0006t0002g0233 a0003c0006t0002g0234	31	350	0.0886	-310	c.788 others(17): Show c.788+5954_789-5716del	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
C7orf50_chr7_992006_1143247	1039203	CGCCCGGC others(303): Show CGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CCGCCCGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	326	0.0031	-310	c.130 others(19): Show c.130-29370_130-29061del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CCDC126_chr7_23592382_23649708	23637554	AGCCGCCC others(303): Show AGCCGCCCCTTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCTCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCAGGAGGGAGG TGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGCGGGGAGGG GGGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0289 a0001c0001t0010g0289	1	380	0.0026	-310	c.239 others(17): Show c.239-5368_239-5059del	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CENPS_chr1_10425433_10447808	10443571	GGCTAATT others(303): Show GGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAG GCTGGTCTCAATCTCCTTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGACGTGAGCCACTGTGCCCGGCTTTTACTGTTTTT TTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTTGCCCAGGCTGG AGTGCAGTGACGTGATCTCGGCTCGCTGTAACCTCTGCCTCCCAGGTTCA AGCAGTTCTCTGCCTCGGCCCCCTGAGTAGCTGGGATTACAGGTGCCCGC CACCACGCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG06807.hp1 HG02615.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0229 a0001c0001t0001g0184 a0001c0001t0001g0229	2	410	0.0049	-310	c.11 others(11): Show c.1167_*1476del	CENPS	ENSG00000175279.22	transcript	ENST00000309048.8	protein_coding		764		chr1	TogoVar
CHN2_chr7_29189775_29519328	29437301	TAAGATAT others(303): Show TAAGATATCTAAAACCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG00741.hp2 others(59): Show HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp2 HG01891.hp2 HG01981.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA19000.hp1 NA19030.hp1 NA19060.hp1 NA19080.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0003 a0002c0004 a0002c0009 a0003c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(25): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0002t0016 a0001c0002t0020 a0001c0005t0001 a0001c0005t0005 a0001c0006t0002 a0001c0006t0022 a0002c0003t0002 a0002c0003t0004 a0002c0003t0018 a0002c0004t0001 a0002c0004t0005 a0002c0009t0002 a0003c0007t0013	a0001c0001t0001g0029 a0001c0001t0001g0064 a0001c0001t0001g0076 others(59): Show a0001c0001t0001g0029 a0001c0001t0001g0064 a0001c0001t0001g0076 a0001c0001t0001g0103 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0225 a0001c0001t0005g0156 a0001c0001t0005g0159 a0001c0001t0006g0001 a0001c0001t0006g0162 a0001c0001t0006g0217 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0007g0122 a0001c0001t0007g0205 a0001c0001t0010g0125 a0001c0001t0011g0046 a0001c0001t0011g0053 a0001c0001t0011g0164 a0001c0001t0012g0040 a0001c0001t0012g0055 a0001c0001t0012g0056 a0001c0001t0012g0170 a0001c0001t0015g0117 a0001c0001t0019g0115 a0001c0002t0001g0085 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0086 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0003g0068 a0001c0002t0004g0004 a0001c0002t0004g0074 a0001c0002t0004g0132 a0001c0002t0007g0152 a0001c0002t0010g0220 a0001c0002t0016g0048 a0001c0002t0020g0052 a0001c0005t0001g0137 a0001c0005t0001g0185 a0001c0005t0005g0114 a0001c0006t0002g0197 a0001c0006t0002g0198 a0001c0006t0022g0119 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0142 a0002c0003t0002g0154 a0002c0003t0004g0072 a0002c0003t0018g0047 a0002c0004t0001g0121 a0002c0004t0005g0211 a0002c0009t0002g0033 a0003c0007t0013g0013 a0003c0007t0013g0035 a0003c0007t0013g0135	62	232	0.2672	-310	c.576 others(19): Show c.576+36489_576+36798del	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLIC4_chr1_24740447_24849321	24799924	GTCAGCCC others(303): Show GTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGC TGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGGGGGGGGGT CAGCCCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG02735.hp2 others(10): Show HG00423.hp2 HG00621.hp2 HG02735.hp2 HG03139.hp1 HG03516.hp1 HG03688.hp2 HG04228.hp1 NA18992.hp2 NA19004.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0171 others(10): Show a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0171 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0200 a0001c0001t0002g0221 a0001c0001t0002g0232 a0001c0001t0002g0238 a0001c0001t0002g0249 a0001c0001t0003g0150 a0001c0001t0003g0199	13	344	0.0378	-310	c.182 others(17): Show c.182+2074_182+2383del	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5			chr1	TogoVar
CNOT4_chr7_135356795_135515102	135446905	AACTATAT others(303): Show AACTATATATTTTTATAATTAGTCTGTTCCCACTAGAATGGAAACTTCAG GACTTCACAATTAGTCTGTTCCCACTAGAATGGAAACTTCAGGAGGGCAG AAATGACCCGGTGCATCACATTTATGACGGTATACCATGCAGCTACAACA TGGCTTCCAGTAAATACTAAGCATTCACACATTTGATGAATACGTAAAAG AAAGAATAAATTGTTATATGTCTGTTATAAATGACAACCTTCAAAAATAA GAAACAGCACTTTAAGTTGTCCATTGTTTCTGTATTAGACACATTTCACA AAGCATGTTAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00438.hp2 others(70): Show HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01074.hp1 HG01123.hp1 HG01175.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01934.hp2 HG01993.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp2 HG02451.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18965.hp1 NA18971.hp2 NA18975.hp2 NA18978.hp1 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19062.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19086.hp2 NA19088.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0001c0001t0004 a0006c0007t0001 a0001c0001t0001 a0001c0001t0004 a0006c0007t0001	a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 others(70): Show a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0305 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0004g0346 a0001c0001t0004g0347 a0006c0007t0001g0311	73	362	0.2017	-310	c.-92 others(17): Show c.-92-8792_-92-8483del	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
COL18A1_chr21_45400165_45518720	45437634	TCACACAG others(303): Show TCACACAGGCACTCTCCTGCACACACACACACTCAGACACACAGGCACTC TCCTGCACACACACACACACACTCAGACACACAGGCACTCTCCTGCACAC ACACACTCACACACTCAGACACAGGCACTCTCCTGCACACACACACACTC ACTCACACACAGACACACAGGCACTCTCCTGCACACACTCACACTCAGAC AAGCACTCTCCTGCACACACTCACACTCACACTCAGACACACAGGCACTC TCCTGCACACACACACTCACTCAGACACAGGCACTCTCCTGCACACACAC ACACACACTCA	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01346.hp2 HG01258.hp2 HG01346.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0110 a0001c0003t0001g0287 a0001c0003t0001g0110 a0001c0003t0001g0287	2	292	0.0069	-310	c.107 others(19): Show c.107-30607_107-30298del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41			chr21	TogoVar
CPEB1_chr15_82538201_82652363	82606521	TAAAAATA others(303): Show TAAAAATACATAGTAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(185): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01175.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19004.hp2 NA19005.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(28): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0018 a0001c0001t0036 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0013 a0002c0002t0016 a0002c0002t0022 a0002c0002t0023 a0002c0002t0029 a0002c0002t0035 a0002c0002t0039 a0002c0002t0040 a0002c0002t0041 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0046 a0002c0002t0047 a0002c0002t0048 a0002c0003t0030 a0002c0003t0031 a0002c0003t0032 a0002c0003t0049 a0002c0005t0003 a0003c0004t0002	a0001c0001t0001g0268 a0001c0001t0004g0220 a0001c0001t0004g0221 others(184): Show a0001c0001t0001g0268 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0014g0213 a0001c0001t0014g0214 a0001c0001t0014g0215 a0001c0001t0018g0001 a0001c0001t0018g0084 a0001c0001t0036g0083 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0109 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0125 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0134 a0002c0002t0002g0140 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0177 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0185 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0201 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0240 a0002c0002t0002g0242 a0002c0002t0002g0353 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0009 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0013 a0002c0002t0003g0017 a0002c0002t0003g0018 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0003g0021 a0002c0002t0003g0028 a0002c0002t0003g0029 a0002c0002t0003g0030 a0002c0002t0003g0034 a0002c0002t0003g0036 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0003g0073 a0002c0002t0003g0075 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0276 a0002c0002t0003g0343 a0002c0002t0003g0344 a0002c0002t0003g0345 a0002c0002t0006g0108 a0002c0002t0006g0112 a0002c0002t0006g0120 a0002c0002t0006g0121 a0002c0002t0006g0124 a0002c0002t0006g0152 a0002c0002t0006g0171 a0002c0002t0006g0176 a0002c0002t0006g0195 a0002c0002t0006g0241 a0002c0002t0007g0005 a0002c0002t0007g0014 a0002c0002t0007g0015 a0002c0002t0007g0016 a0002c0002t0007g0037 a0002c0002t0007g0043 a0002c0002t0007g0044 a0002c0002t0007g0074 a0002c0002t0007g0079 a0002c0002t0007g0342 a0002c0002t0008g0006 a0002c0002t0008g0012 a0002c0002t0008g0027 a0002c0002t0008g0032 a0002c0002t0008g0033 a0002c0002t0008g0035 a0002c0002t0008g0041 a0002c0002t0008g0042 a0002c0002t0008g0066 a0002c0002t0013g0127 a0002c0002t0013g0128 a0002c0002t0013g0129 a0002c0002t0013g0139 a0002c0002t0013g0141 a0002c0002t0013g0151 a0002c0002t0016g0133 a0002c0002t0016g0135 a0002c0002t0016g0163 a0002c0002t0016g0166 a0002c0002t0016g0178 a0002c0002t0022g0181 a0002c0002t0022g0182 a0002c0002t0022g0183 a0002c0002t0022g0184 a0002c0002t0023g0022 a0002c0002t0023g0023 a0002c0002t0023g0024 a0002c0002t0023g0025 a0002c0002t0029g0156 a0002c0002t0029g0157 a0002c0002t0035g0126 a0002c0002t0039g0113 a0002c0002t0040g0076 a0002c0002t0041g0155 a0002c0002t0043g0199 a0002c0002t0044g0031 a0002c0002t0045g0026 a0002c0002t0046g0058 a0002c0002t0047g0067 a0002c0002t0048g0052 a0002c0003t0030g0002 a0002c0003t0031g0003 a0002c0003t0032g0004 a0002c0003t0049g0231 a0002c0005t0003g0040 a0002c0005t0003g0045 a0003c0004t0002g0136 a0003c0004t0002g0137 a0003c0004t0002g0138	188	354	0.5311	-310	c.271 others(19): Show c.271+20362_271+20671del	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPNE4_chr3_131528569_132040014	131650458	TAAAAATT others(303): Show TAAAAATTCTATTATTGCGGCCGGGCGCGGTGGCTCACGCTTGTAATCCC AGCACTCTGGGAGGCCGAGGCGGGTGGATCACAAGGTCGGGAGATCGAGA CCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGT GGTGGTGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACT GCACTCCAGCCTGGGGGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02622.hp2 others(3): Show HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02922.hp1 HG03098.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0016 a0001c0001t0002g0078 a0001c0001t0002g0080 others(3): Show a0001c0001t0001g0016 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0002t0001g0020 a0001c0004t0001g0007 a0001c0004t0001g0009	6	94	0.0638	-310	c.681 others(19): Show c.681+18907_681+19216del	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	7/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587765	CACCCACA others(303): Show CACCCACAGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCG TGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTTACCCACAGA TACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACA GATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCC ACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG CCCCCCGTGTT	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19000.hp1 NA19074.hp1 others(1): Show NA18950.hp1 NA19000.hp1 NA19074.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0032 a0001c0002t0002g0256 a0001c0002t0002g0004 a0001c0002t0002g0032 a0001c0002t0002g0256	4	348	0.0115	-310	c.927 others(15): Show c.927+673_928-591del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587775	AACACGGC others(303): Show AACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGC GTGTCACCCACAGATACACGGCCCCCGTGTTACCCACAGATACACGGCCC CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG CGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGC CCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACAC GGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGT TACCCACAGAT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	348	0.0029	-310	c.927 others(15): Show c.927+711_928-553del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240924620	GTCCCCAC others(303): Show GTCCCCACACTATCCCGGCCCCCCACACTACCCCGGCCCCCCACACTAAC CCAGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCACACTG ACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACT GACCCGGCCCCCACACTAACCCAGCCCCCACACTAATCCGGCCCCCACAC TAACCCGGCCCCCACACTGACCCGGCCCCCACACTAACCCAGCCCCCACA CTGACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCAC ACTGACCCGGC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp2 HG02922.hp1 others(1): Show HG01884.hp2 HG02630.hp2 HG02922.hp1 NA18906.hp2	a0018 a0052 a0018 a0052	a0018c0017 a0052c0072 a0018c0017 a0052c0072	a0018c0017t0002 a0052c0072t0002 a0018c0017t0002 a0052c0072t0002	a0018c0017t0002g0240 a0018c0017t0002g0241 a0018c0017t0002g0242 others(1): Show a0018c0017t0002g0240 a0018c0017t0002g0241 a0018c0017t0002g0242 a0052c0072t0002g0239	4	350	0.0114	-310	c.489 others(16): Show c.489-1103_489-794del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924631	ATCCCGGC others(303): Show ATCCCGGCCCCCCACACTACCCCGGCCCCCCACACTAACCCAGCCCCCAC ACTGACCCGGCCCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCCC ACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCC CACACTAACCCAGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCC CCACACTGACCCGGCCCCCACACTAACCCAGCCCCCACACTGACCCGGCC CCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGC CCCCCACACTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	350	0.0029	-310	c.489 others(16): Show c.489-1092_489-783del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CSF2RA_chrX_1263814_1314935	1301859	GCCTCCCA others(303): Show GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCTC CCTCTTTTTTTTTTTTTTTTTTTTTTAGATGGCGTTTCGCTCTTGTTGCC CAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACCGCGATCTCCGCCTCC CAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGGGATTACA GGCGCCCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGG TTTCACCATGTTGGTCAGGCTGTTCTTGAACTCCTGACCTCAGGTGATCT GCCCACCTCGC	G G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0144 a0002c0003t0001g0144	1	159	0.0063	-310	c.946 others(17): Show c.946+1249_946+1558del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
DHRS7B_chr17_21121964_21196420	21179763	TTTTTTTT others(303): Show TTTTTTTTTTTTTTTCTTTTTGAGATGGAGTTTCACTCTTGTTGCCGAGG CTGGAGTGCAACGGTGCGATCTCAGCTCACCACAACCTCTGCCTCCTGGG TTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACTGGCA TGCGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGCTTC TCCATATTGGTCAGGCTGGTCTCTAACTCCCGACCTCAGGCGATCCACCC GCCTGGGGCCTCCCAAAGTGCTGGGGTTACAGGCATGAGCCACCATGCCC AGCCCACTTTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02896.hp1 HG02451.hp2 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0373 a0001c0003t0001g0378 a0001c0003t0001g0373 a0001c0003t0001g0378	2	382	0.0052	-310	c.309 others(17): Show c.309+1436_309+1745del	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DLGAP2_chr8_732628_1713476	1641967	GACCCCGC others(303): Show GACCCCGCCGGTCCCCACCTGTGTCACCCTCGACCCCGCTGGTCCTCACC TGTGTCACCCTCGACCCTGCCGGCCCCCACCTGTGTCACCCTCGACCCCG CCGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGCCCTCACCTGTGTCA CCCTCGACCCTGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGTCC CCACCTGTGTCACCCTCCAACCCGCCGGTCCTCACCTGTGTCACCCTCGA CCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTG TGTCACCCTCC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0002 a0001c0011t0015g0002	1	40	0.0250	-310	c.181 others(19): Show c.1810+8923_1810+9232del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM210A_chr18_13658347_13731558	13674317	ACTTTATT others(303): Show ACTTTATTTCCAGTTTTCTGATTATTAACATTCCTGAGCCCTAGCTTCTT GATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTTATTTCC AGTTTCCTGATTATTAACATTCCTGAGCCCTAGCTTCTTGATTTCCAGTT TCCTGATTATTAACATTCCTGAGCCCCGACTTTATTTCCAGTTTTCTGAT TATTAACATTCCTGAGCCCTGGCTTCTTTATTTCCTGTTTCCTGATTATT AACATTCCTGAGCCCCGACTTTATTTCCAGTTTCCTGATTATTAACATTC CTGAGCCCTAG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18941.hp2 NA18946.hp1 others(4): Show HG02083.hp2 NA18941.hp2 NA18946.hp1 NA18948.hp2 NA19003.hp2 NA19011.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0213 a0001c0001t0001g0231 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0213 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0239	7	326	0.0215	-310	c.474 others(17): Show c.474-2654_474-2345del	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FBXW10B_chr17_15578886_15624704	15602615	TGAGACCG others(303): Show TGAGACCGAGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGT CGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGCCTCCGC CCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTCAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	T T	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA19078.hp1 NA18992.hp2 NA19078.hp1	a0002 a0037 a0002 a0037	a0002c0002 a0037c0050 a0002c0002 a0037c0050	a0002c0002t0001 a0037c0050t0002 a0002c0002t0001 a0037c0050t0002	a0002c0002t0001g0119 a0037c0050t0002g0078 a0002c0002t0001g0119 a0037c0050t0002g0078	2	452	0.0044	-310	c.143 others(19): Show c.1433+2298_1433+2607del	FBXW10B	ENSG00000241322.11	transcript	ENST00000395906.8	protein_coding	7/11			chr17	TogoVar
FGF12_chr3_192134390_192732541	192345392	TAAGATAT others(303): Show TAAGATATAACATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG01074.hp1 others(68): Show HG00597.hp1 HG00597.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01258.hp1 HG01258.hp2 HG01934.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG04115.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18962.hp1 NA18971.hp1 NA19030.hp1 NA19030.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041	a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0034 others(68): Show a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0062 a0001c0001t0001g0089 a0001c0001t0002g0020 a0001c0001t0002g0040 a0001c0001t0002g0044 a0001c0001t0002g0061 a0001c0001t0002g0086 a0001c0001t0003g0059 a0001c0001t0003g0074 a0001c0001t0003g0077 a0001c0001t0003g0090 a0001c0001t0004g0026 a0001c0001t0004g0050 a0001c0001t0004g0081 a0001c0001t0005g0022 a0001c0001t0005g0029 a0001c0001t0005g0031 a0001c0001t0005g0075 a0001c0001t0006g0046 a0001c0001t0006g0049 a0001c0001t0006g0069 a0001c0001t0007g0038 a0001c0001t0007g0076 a0001c0001t0008g0067 a0001c0001t0008g0082 a0001c0001t0009g0052 a0001c0001t0009g0085 a0001c0001t0010g0014 a0001c0001t0010g0032 a0001c0001t0010g0071 a0001c0001t0011g0048 a0001c0001t0011g0065 a0001c0001t0012g0012 a0001c0001t0012g0023 a0001c0001t0013g0015 a0001c0001t0013g0036 a0001c0001t0014g0013 a0001c0001t0015g0008 a0001c0001t0015g0064 a0001c0001t0016g0035 a0001c0001t0016g0060 a0001c0001t0017g0009 a0001c0001t0017g0016 a0001c0001t0018g0002 a0001c0001t0018g0024 a0001c0001t0019g0017 a0001c0001t0019g0070 a0001c0001t0020g0007 a0001c0001t0020g0054 a0001c0001t0021g0001 a0001c0001t0022g0028 a0001c0001t0023g0088 a0001c0001t0025g0021 a0001c0001t0026g0072 a0001c0001t0027g0047 a0001c0001t0030g0073 a0001c0001t0032g0079 a0001c0001t0033g0011 a0001c0001t0034g0080 a0001c0001t0035g0041 a0001c0001t0036g0006 a0001c0001t0037g0066 a0001c0001t0038g0010 a0001c0001t0039g0058 a0001c0001t0040g0018 a0001c0001t0041g0045	71	90	0.7889	-310	c.125 others(18): Show c.125-10238_125-9929del	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	3/5			chr3	TogoVar
FREM2_chr13_38682077_38892131	38682749	GAGCAAAT others(303): Show GAGCAAATGGAAAGGCCAGTTTCAAAACAGGTTTTCTGGCTTCTAGTCCA GTGCTCTTTCTTCTTCCCCACATAGACTCCCATCTGAACATAGCTTTGTC TGGAAAGTCTGGGCGCTTGTGAAGCCATATGTTACTCAATAATAAATCCA TCTTGAAAATTCGCCTATCCTTATGATGAGTTTAATTAAGTTTTGCATTT CTAGACTTTTATTTCAATTTTATTTTTTATTTAAAAATAGTTACTTAGAG ATGTTGTATTTAAGCTGTCCACGTCAATTAATACAAATGTTGTTCTGTAT ATTTTACAGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 NA20300.hp2 HG02071.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0007 a0001c0001t0001 a0002c0006t0007	a0001c0001t0001g0172 a0002c0006t0007g0237 a0001c0001t0001g0172 a0002c0006t0007g0237	2	262	0.0076	-310	c.-45 others(11): Show c.-4595_-4286del	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding		4327		chr13	TogoVar
GAL3ST2_chr2_241771822_241809287	241807262	CCCCCCTC others(303): Show CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	314	0.0032	-310	c.30 others(11): Show c.3097_*3406del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2976		chr2	TogoVar
HACL1_chr3_15555699_15606569	15592549	CATGTGTG others(303): Show CATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATG TACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATA CACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCG TGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATG TGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACG CACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACA TGTACGCACAT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18986.hp2 NA19084.hp1 HG01978.hp1 NA18986.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0088	3	428	0.0070	-310	c.228 others(16): Show c.228-1179_228-870del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HDHD5_chr22_17132520_17164277	17136073	GAAATCAG others(303): Show GAAATCAGTTAGGCCGGGAGCAGTGGCTCACGCCTGTAATCCCAGCGCTT TGAGGGGCCAAGGAGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGC CTGGCCAACATGGCGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCT AGTCAGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGA GGCACAAAAATTGCTTGAACCTGGAGGTGGAGGCTGCAGTGAGCCGAGAT CATGCCACTGCACTCCAGCTTGGTAAACAAGAGCAAAACTCCCGTCTCAA AAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0022 a0003c0011t0001g0022	1	422	0.0024	-310	c.16 others(11): Show c.1638_*1947del	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding		1446		chr22	TogoVar
HDHD5_chr22_17132520_17164277	17146631	AGGCCTTC others(303): Show AGGCCTTCGATCACACGTCATCGCACACGCCCCACACCTGTGACGCCCTC CTGTGAGCTTACCGGCCTTCAATCACACATCATCGCACACGCCCCACACC TGTGACGCCCTCCTGTGAGCTTACCGGCCTTCAATCACACGTCATCGCAC ACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCCTTCGATCAC ACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCG GCCTTCGATCACACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCT GTGAGCTTACC	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA20752.hp2 HG02735.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0161 a0001c0001t0001g0162	2	422	0.0047	-310	c.443 others(17): Show c.443+1507_444-1515del	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	3/7			chr22	TogoVar
HLA-DQA1_chr6_32632406_32648684	32647175	ACATGGTA others(303): Show ACATGGTACTCAGCCAGGCGCGGTGCCTCATGCCTGTAATCCCAGCACTT TGGGAGGCCAAGGCGGGCAGAACGCCTGAGGTCAGGAGTTCGAGACCATC CTGGCCAACATGGCGAAACCCTGTCTCTTCTAAAAATATAAAAAATTAGC TGGGCGTGGTGGTGGGCACCTGTAATGCCAGCTACTTGGGAGGCTGAGGC AGGATAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAACTGAGATCA TGCTGTTGCACTCCAGCCTGGGCAACAGGGCAAGACTCTGTGAAAAAACA AACAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0025 a0006c0007t0005g0025	1	86	0.0116	-310	c.42 others(11): Show c.4245_*4554del	HLA-DQA1	ENSG00000196735.13	transcript	ENST00000343139.11	protein_coding		3492		chr6	TogoVar
IFT122_chr3_129435224_129525507	129465624	CCACGCCT others(303): Show CCACGCCTGGCTAATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00544.hp1 others(169): Show HG00140.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01975.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18968.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0007 a0009 a0010 a0012	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0015 a0001c0019 a0002c0002 a0002c0013 a0004c0006 a0007c0011 a0009c0014 a0010c0017 a0012c0023	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0012t0001 a0001c0015t0001 a0001c0019t0001 a0002c0002t0001 a0002c0013t0001 a0004c0006t0001 a0007c0011t0001 a0009c0014t0001 a0010c0017t0001 a0012c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(157): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0002g0033 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0004t0001g0326 a0001c0004t0001g0327 a0001c0004t0001g0330 a0001c0004t0001g0331 a0001c0004t0001g0332 a0001c0004t0001g0333 a0001c0007t0001g0334 a0001c0007t0001g0335 a0001c0007t0001g0336 a0001c0008t0001g0060 a0001c0008t0001g0063 a0001c0008t0001g0081 a0001c0009t0001g0099 a0001c0009t0001g0100 a0001c0012t0001g0272 a0001c0015t0001g0020 a0001c0019t0001g0065 a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0013t0001g0308 a0004c0006t0001g0289 a0004c0006t0001g0290 a0004c0006t0001g0328 a0007c0011t0001g0064 a0009c0014t0001g0316 a0010c0017t0001g0116 a0012c0023t0001g0061	172	356	0.4832	-310	c.563 others(15): Show c.563+863_564-937del	IFT122	ENSG00000163913.14	transcript	ENST00000348417.7	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNG2_chr18_79792938_79905100	79830724	AGACAGAG others(303): Show AGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGG AGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCATACAGA GCCTTCGTCAGGAGCGTTCTCTGCGGACAGAGCCTTCGTCAGGAGGGTTC CCTGCATACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCG TCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGG ACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAG GGTTCCCTGCG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA20129.hp2 HG01106.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0033 a0002c0002t0002g0311 a0002c0002t0002g0033 a0002c0002t0002g0311	2	312	0.0064	-310	c.-11 others(21): Show c.-114-25562_-114-25253del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIF13B_chr8_29062278_29268070	29243122	GGATCACT others(303): Show GGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAA CCCCTTCTCTACTAAAAATACAAAAATTAGCTGGGAGTGATGGTGGATGC CTGCAATCCCAGCTACTAGGGAGGCTGAGTCAGGAGAATTGGTTGAACCT GGTGGGGCGGAGGTTGCAGTGAGCCAAGATCGCCACCATTTCACTTCAGC CTGGGCAACACAGCAAGACCCAGTCTCAAAAAAAAAAAAAAAATGTAATA ACTGGCCCAGTGTGGTGGCTCACACCCGTAATCCCAGCACTTTGGGAGGC CGACGCAGGCA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0159 a0001c0001t0022g0159	1	288	0.0035	-310	c.149 others(17): Show c.149+1914_149+2223del	KIF13B	ENSG00000197892.13	transcript	ENST00000524189.6	protein_coding	2/39			chr8	TogoVar
LOC128462377_chr16_89312046_89423292	89415235	GGAGCCAC others(303): Show GGAGCCACTGCACCTGGCCAGCTATTCTTTTTTTTTTTTTTTTTTTTTGA GATGGAGTCTCCCTCTGTCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCG GTTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT TGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGTGT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp1 HG03130.hp2 others(2): Show HG02723.hp2 HG02896.hp1 HG03130.hp2 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0362 a0001c0001t0000g0363 a0001c0001t0000g0364 others(2): Show a0001c0001t0000g0362 a0001c0001t0000g0363 a0001c0001t0000g0364 a0001c0001t0000g0365 a0001c0001t0000g0366	5	366	0.0137	-310	c.9+2 others(13): Show c.9+2739_9+3048del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LRP1B_chr2_140226423_142136016	141285773	TAAAAATG others(303): Show TAAAAATGTTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTACAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCC CGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0001 a0001c0023t0003g0001	1	28	0.0357	-310	c.344 others(19): Show c.344-31442_344-31133del	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	3/90			chr2	TogoVar
LRP5_chr11_68307591_68454275	68415625	ATCCCAGC others(303): Show ATCCCAGCTACTTGGGAGGCTGAGAGAGGAGAATCGCTTGAACTTGGGAG GTGGAAGTTTCAAGTGAGCTCATTTTGTGCCACTGCACTCCAGCCTGGGC AACAAGAGCGAAACTCCATCTCGAATGAATGAATGAATGAATGAATGAAT GGCAGGGCGTAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAA GGCGGGCGGATGACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGAAACCCGTCTCTACTAAAAATACAAAAAATGAGCCAGGCGTGGTGACG GGCGCCTGTAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp2 others(101): Show HG00140.hp1 HG00140.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp2 NA18966.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18983.hp2 NA18988.hp1 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19067.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0008 a0010 a0011 a0013 a0014 a0015 a0016 a0019	a0001c0001 a0001c0004 a0001c0009 others(21): Show a0001c0001 a0001c0004 a0001c0009 a0001c0025 a0001c0029 a0001c0030 a0001c0034 a0001c0036 a0001c0040 a0001c0043 a0001c0046 a0002c0033 a0002c0037 a0003c0006 a0003c0011 a0003c0014 a0008c0015 a0010c0047 a0011c0044 a0013c0032 a0014c0031 a0015c0039 a0016c0045 a0019c0021	a0001c0001t0001 a0001c0004t0001 a0001c0009t0001 others(21): Show a0001c0001t0001 a0001c0004t0001 a0001c0009t0001 a0001c0025t0001 a0001c0029t0001 a0001c0030t0001 a0001c0034t0001 a0001c0036t0001 a0001c0040t0001 a0001c0043t0001 a0001c0046t0001 a0002c0033t0001 a0002c0037t0001 a0003c0006t0001 a0003c0011t0001 a0003c0014t0001 a0008c0015t0001 a0010c0047t0001 a0011c0044t0001 a0013c0032t0001 a0014c0031t0001 a0015c0039t0001 a0016c0045t0001 a0019c0021t0001	a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0045 others(101): Show a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0004t0001g0002 a0001c0004t0001g0069 a0001c0004t0001g0084 a0001c0004t0001g0086 a0001c0004t0001g0090 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0115 a0001c0004t0001g0123 a0001c0004t0001g0153 a0001c0004t0001g0210 a0001c0009t0001g0005 a0001c0009t0001g0042 a0001c0009t0001g0082 a0001c0009t0001g0105 a0001c0009t0001g0146 a0001c0025t0001g0037 a0001c0029t0001g0117 a0001c0030t0001g0010 a0001c0034t0001g0080 a0001c0036t0001g0166 a0001c0040t0001g0177 a0001c0043t0001g0179 a0001c0046t0001g0137 a0002c0033t0001g0070 a0002c0037t0001g0168 a0003c0006t0001g0023 a0003c0006t0001g0024 a0003c0006t0001g0031 a0003c0006t0001g0032 a0003c0006t0001g0033 a0003c0006t0001g0034 a0003c0011t0001g0017 a0003c0011t0001g0019 a0003c0011t0001g0151 a0003c0014t0001g0006 a0003c0014t0001g0025 a0008c0015t0001g0021 a0008c0015t0001g0022 a0010c0047t0001g0199 a0011c0044t0001g0140 a0013c0032t0001g0186 a0014c0031t0001g0053 a0015c0039t0001g0190 a0016c0045t0001g0074 a0019c0021t0001g0171	104	212	0.4906	-310	c.282 others(17): Show c.2828-691_2828-382del	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRRC27_chr10_132327193_132386508	132358617	GGAGCGTG others(303): Show GGAGCGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAG GTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGGGGAG GAGCCAAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGT GTGGGGAGGAGCCGAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGA GCGTGGGAAGGAGCCGAGCTGGTGGAGCAGCGTAGGGAGGAGCCGAGGTG GTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAG CCGAGGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	290	0.0035	-310	c.117 others(19): Show c.1170+2736_1171-2526del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358789	GAGTGTGG others(303): Show GAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGCCGAGCTGG TGGAGCAGCGTAGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGC CGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGG GGAGGAGCCAAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGT GGGAAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGATGG AGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGAGCCGA GGTGATGGAGC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01175.hp2 HG01261.hp2 others(24): Show HG01106.hp2 HG01175.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02071.hp2 HG02698.hp2 HG03239.hp1 HG03492.hp2 HG03942.hp2 HG04199.hp2 NA18612.hp2 NA18959.hp1 NA18984.hp2 NA18988.hp1 NA19007.hp1 NA19054.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(6): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0012 a0001c0002t0016 a0001c0002t0020 a0001c0002t0044 a0001c0002t0051 a0001c0011t0001	a0001c0002t0001g0240 a0001c0002t0001g0243 a0001c0002t0001g0276 others(24): Show a0001c0002t0001g0240 a0001c0002t0001g0243 a0001c0002t0001g0276 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0237 a0001c0002t0003g0239 a0001c0002t0004g0245 a0001c0002t0004g0254 a0001c0002t0004g0255 a0001c0002t0004g0258 a0001c0002t0004g0271 a0001c0002t0004g0273 a0001c0002t0004g0275 a0001c0002t0004g0279 a0001c0002t0004g0281 a0001c0002t0012g0205 a0001c0002t0012g0266 a0001c0002t0012g0267 a0001c0002t0012g0280 a0001c0002t0016g0247 a0001c0002t0020g0270 a0001c0002t0044g0274 a0001c0002t0051g0229 a0001c0011t0001g0102	27	290	0.0931	-310	c.117 others(19): Show c.1171-2622_1171-2313del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LYPD8_chr1_248734415_248760759	248747493	CCCCGCAC others(303): Show CCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCC ACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCA CGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGG GCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAG CACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCGC CCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCAC CCAGGGCATCG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	374	0.0027	-310	c.337 others(15): Show c.337+486_337+795del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
MAD1L1_chr7_1810795_2237945	1861395	TCACTGCT others(303): Show TCACTGCTCCGCCTGCCCCCTGGTTGGAGGGACACTGCTCCGCCTGCCCC CTGGTTGGAGGGACACTGCTCCGCCTGCCCCCTGGTTGGAGGGACACTGC TCCGCCTGCCCCCTGGTTGGAGGGACACTGCTCCGCCTGCCCCCTGGTTG GAGGGACACTGCTCCGCCTGCCCCCTGGTTGGAGGGACACTGCTCCGCCT GCCCCCTGGTTGGAGGGACACTGCTCCGCCTGCCCCCTGGTTGGAGGGAC ACTGCTCCGCCTGCCCCCTGGTTGGAGGGACACTGCTCCGCCTGCCCCCT GGTTGGAGGGA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0176 a0002c0002t0001g0176	1	264	0.0038	-310	c.199 others(21): Show c.1998+36495_1998+36804del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MLPH_chr2_237482251_237560322	237543578	GGGGGACA others(303): Show GGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGGACAGTAGTGA GTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGCACGGTAGTG ACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTG GTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGT GGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACA GTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGA CAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	286	0.0035	-310	c.153 others(18): Show c.1539+958_1539+1267del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYOM2_chr8_2040046_2150456	2080818	CCGGGAGG others(303): Show CCGGGAGGAACAGGCAGCCCAGCCCGTGTAGAATGAGGTTTGGTTCTGAT CTGCGGGAGGAACAGGCAGCCCAGCCCGTGCAGAATGAGGTTGGTTCTGG CCTGCGGGAGGAACAGGCAGCCCAGCCCTTGCAGAATGAGGTTTGGTTCT GGCCTGCGGGAGGAACAGGCAGCCCAGCCCTTGCAGAATGTGGTTTGGTT CTGGCCTGCGGGAGGAACAGGCAGCCCAGCCCGTGCAGAATGAGGTTTGG TTCTGATCTGCGGGAGGAACAGGCAGCCCAGCCCGTGTAGAATGAGGTTG GTTCTGGCCTG	C C	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0002 a0003c0001t0002	a0003c0001t0002g0098 a0003c0001t0002g0098	1	403	0.0025	-310	c.151 others(19): Show c.1516+1253_1516+1562del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	13/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2081050	GTGCAGAA others(303): Show GTGCAGAATGAGGTTTGGTTCTGATCTGCGGGAGGAACAGGCAGCCCAGC CCGTGTAGAATGAGGTTGGTTCTGGCCTGCGGGAGGAACAGGCAGCCCAG CCCGTGTAGAATGAGGTTTGGTTCTGGCCTGCGGGAGGAACAGGCAGCCC AGCCCGTGTAGAATGAGGTGGGTTCTGGCCTGCGGGAGGAACAGGCAGCC CAGCCCGTGTAGAATGAGGTTTGGTTCTGGCCTGCGGGAGGAACAGGCAG CCCAGCCCGTGCAGAATGAGGTTTGATTCTGGCCTGCGGGAGGAACAGGC AGCCCAGCCCA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01891.hp2 HG02145.hp2 others(8): Show HG01175.hp1 HG01891.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1	a0001 a0002 a0011 others(3): Show a0001 a0002 a0011 a0034 a0054 a0080	a0001c0065 a0001c0095 a0002c0015 others(6): Show a0001c0065 a0001c0095 a0002c0015 a0002c0034 a0002c0097 a0011c0176 a0034c0094 a0054c0179 a0080c0141	a0001c0065t0001 a0001c0095t0001 a0002c0015t0001 others(6): Show a0001c0065t0001 a0001c0095t0001 a0002c0015t0001 a0002c0034t0001 a0002c0097t0006 a0011c0176t0001 a0034c0094t0001 a0054c0179t0001 a0080c0141t0001	a0001c0065t0001g0125 a0001c0095t0001g0031 a0002c0015t0001g0122 others(8): Show a0001c0065t0001g0125 a0001c0095t0001g0031 a0002c0015t0001g0122 a0002c0015t0001g0142 a0002c0015t0001g0191 a0002c0034t0001g0384 a0002c0097t0006g0050 a0011c0176t0001g0053 a0034c0094t0001g0029 a0054c0179t0001g0082 a0080c0141t0001g0062	11	403	0.0273	-310	c.151 others(19): Show c.1516+1440_1516+1749del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	13/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NINL_chr20_25447697_25590531	25482853	ATCTCTAC others(303): Show ATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCGCCTGT AATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCGCTTGAACCCAGGA GGCAGAGATTGCAGTGAGCCAAGATCATGCCATTCATTGCACTCCAGCCT GAGCAAAAAGAGCAAACTCCATCTCAAGAAAAAAATAAATAAAGAAAAGA GGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGA GGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGG CGAAACCCCGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02280.hp1 others(6): Show HG01109.hp1 HG02055.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02717.hp1 HG02976.hp2 HG03209.hp2 HG03486.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0006 a0006c0006t0001 a0006c0006t0006	a0006c0006t0001g0201 a0006c0006t0001g0224 a0006c0006t0001g0225 others(6): Show a0006c0006t0001g0201 a0006c0006t0001g0224 a0006c0006t0001g0225 a0006c0006t0001g0226 a0006c0006t0001g0227 a0006c0006t0001g0230 a0006c0006t0001g0231 a0006c0006t0001g0232 a0006c0006t0006g0228	9	310	0.0290	-310	c.167 others(18): Show c.1678-1063_1678-754del	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	13/23			chr20	TogoVar
NPRL3_chr16_80386_143673	138927	GGGGCGCG others(303): Show GGGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTAGCTAACATAGTGA AACCCCATCTCTACTAAAAATTAGAAGAAATTATCCGGGCGTGGTGGCAG GCGCCCGTAATCCTAGAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTG CATTGAGCCAAGATCACGCCATTGCACTCCACCCTGGGCGACAGAGCGAC GAGACCCCGTATCAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAAAGAAA AAAAAAAGGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02145.hp1 HG00639.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0316 a0001c0001t0012g0317 a0001c0001t0012g0316 a0001c0001t0012g0317	2	350	0.0057	-310	c.-66 others(9): Show c.-663_-354del	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		255		chr16	TogoVar
ODAPH_chr4_75551066_75569817	75554463	TTTGCACA others(303): Show TTTGCACAGCCTCTCTTGTTAGATTGTCAGTCCTTCAAAGACAGGGACCA TGTTTAGTTTGTTCTTTTTTTTTTTTTTTTTTTTTTTCCATGATACCCAG GAAAATGTTCTGCTTAAAGTGGAGGTCTTTCCAGTGATTAACTGATTTGG CAAGTACAGCCTCCTAAGAGAATAAATTATCAGTTGGGATTATTATAATT TAATGACAATCACAAACACTCCCTTTCACAGGCCAGGCACTGTGGTTGGA GCTGTATGTCAATTATCTCCTTGATATGAAACCAACTAAGTGGCCATCGA CCAACGAGTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG02809.hp1 others(19): Show HG01884.hp2 HG02486.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03516.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18959.hp2 NA18973.hp2 NA19030.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0008 a0001c0001 a0003c0003 a0006c0008	a0001c0001t0001 a0003c0003t0001 a0006c0008t0001 a0001c0001t0001 a0003c0003t0001 a0006c0008t0001	a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0036 others(9): Show a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0109 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0150 a0001c0001t0001g0151 a0003c0003t0001g0015 a0003c0003t0001g0088 a0003c0003t0001g0089 a0006c0008t0001g0135	22	454	0.0485	-310	c.-16 others(11): Show c.-1619_-1310del	ODAPH	ENSG00000174792.11	transcript	ENST00000311623.9	protein_coding		1602		chr4	TogoVar
P2RX5_chr17_3668227_3701155	3680566	CTTCCTCC others(303): Show CTTCCTCCACCCGGCTTCCTCTACCCTGCTTCCTCCATCCTGGGTCCTCC ACCCTGCAGGCCACCACCCTGCTTCCTCCATCCTGGGTCCTCCACCCTGC AGGCCACCACCCTGCTTCCTCCATCCTGGGTCCTCCACCCTGCATCCTCC ACCCTGCATCCTCCACCCTGCGTCCTCCACCCAGCGTCCTCCACCCTGCA TCCTCCACCCAGTGTCCTCCACCCTGCATCCTCCACCCTGCATCCTCCAC CCTGCATCCTCCACCCAGCGTCCTCCACCCTGCATCCTCCACCCTGAGTC CTCCACCCAGT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	362	0.0028	-310	c.106 others(18): Show c.1064+1020_1065-783del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	10/11			chr17	TogoVar
PACRG_chr6_162722974_163320500	163272882	ATGCATCA others(303): Show ATGCATCATTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02559.hp2 others(5): Show HG01884.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG03209.hp2 HG03516.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0003	a0001c0001t0001g0004 a0001c0001t0001g0108 a0001c0001t0002g0003 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0108 a0001c0001t0002g0003 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0022 a0001c0001t0003g0028 a0001c0003t0003g0061	8	130	0.0615	-310	c.614 others(19): Show c.614-41930_614-41621del	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	135914477	TTATAATG others(303): Show TTATAATGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCGCCTCAGCCTCCCGAGAGCTGG GACTACAGGCGCCCCTACCACGCCCGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00642.hp1 others(72): Show HG00099.hp2 HG00544.hp2 HG00642.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02055.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03579.hp1 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18953.hp1 NA18979.hp2 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA19001.hp1 NA19001.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19079.hp1 NA19087.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0005 a0002c0007 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0002t0004 a0001c0002t0016 a0001c0003t0006 a0001c0003t0027 a0001c0006t0028 a0002c0005t0014 a0002c0005t0020 a0002c0007t0014 a0003c0004t0013	a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0031 others(72): Show a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0002g0007 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0003g0041 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0004g0011 a0001c0001t0004g0073 a0001c0001t0004g0078 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0005g0005 a0001c0001t0005g0020 a0001c0001t0005g0070 a0001c0001t0006g0116 a0001c0001t0007g0035 a0001c0001t0008g0043 a0001c0001t0008g0050 a0001c0001t0009g0056 a0001c0001t0009g0128 a0001c0001t0012g0110 a0001c0001t0012g0137 a0001c0001t0015g0018 a0001c0001t0019g0141 a0001c0001t0022g0098 a0001c0001t0024g0080 a0001c0001t0025g0010 a0001c0001t0026g0119 a0001c0001t0030g0053 a0001c0001t0031g0034 a0001c0001t0032g0029 a0001c0001t0033g0055 a0001c0001t0035g0054 a0001c0001t0036g0052 a0001c0001t0039g0038 a0001c0001t0040g0015 a0001c0002t0004g0008 a0001c0002t0016g0003 a0001c0003t0006g0001 a0001c0003t0027g0074 a0001c0006t0028g0032 a0002c0005t0014g0028 a0002c0005t0020g0140 a0002c0007t0014g0067 a0003c0004t0013g0024	75	142	0.5282	-310	c.22- others(17): Show c.22-32974_22-32665del	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLPPR3_chr19_807488_826955	818969	TATTTTAT others(303): Show TATTTTATTTATTATTATTATTTTTTGAGATGGAGTCTTGCTCTCTTGCC CAAGCTGGCGTGCAGTGGAACAGTCTCAGCTCACTGCAACCTCCACCTCC CGTCCTCAAGCGATTCTCCCACCTCAGCCTCCGGAGTAGCTGAGACTACA GGCACACACCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGTGTG GTTTCACCACATTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGATC TGCCCGTCCCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCACTGC ACCCAGCCTAC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	398	0.0025	-310	c.75+ others(15): Show c.75+2206_75+2515del	PLPPR3	ENSG00000129951.19	transcript	ENST00000520876.8	protein_coding	2/7			chr19	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)