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
CNBD1_chr8_86861415_87387859	87256003	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	152	0.0066	-21	c.771 others(40): Show c.771+18893_771+18913delATATATATATATTTTTTTTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNDP2_chr18_74491363_74528454	74516972	ACAGACGC others(14): Show ACAGACGCGGTAGCTTACGTGG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	424	0.0024	-21	c.106 others(38): Show c.1068+589_1068+609delGTAGCTTACGTGGCAGACGCG	CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CNDP2_chr18_74491363_74528454	74516981	GTAGCTTA others(14): Show GTAGCTTACGTGGCAGACGCGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(226): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03195.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0009 a0011	a0001c0001 a0001c0003 a0001c0009 others(7): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0002c0006 a0004c0010 a0005c0019 a0006c0013 a0009c0015 a0011c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0001c0003t0021 a0001c0003t0048 a0001c0009t0001 a0002c0002t0002 a0002c0002t0010 a0002c0006t0002 a0002c0006t0003 a0004c0010t0001 a0005c0019t0001 a0006c0013t0002 a0009c0015t0004 a0011c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(155): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0164 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0002g0080 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0172 a0001c0001t0003g0059 a0001c0001t0003g0154 a0001c0001t0003g0244 a0001c0001t0003g0285 a0001c0001t0004g0023 a0001c0001t0004g0058 a0001c0001t0004g0173 a0001c0001t0004g0256 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0270 a0001c0001t0008g0174 a0001c0001t0008g0239 a0001c0001t0008g0243 a0001c0001t0009g0168 a0001c0001t0009g0170 a0001c0001t0009g0171 a0001c0001t0011g0165 a0001c0001t0011g0166 a0001c0001t0011g0203 a0001c0001t0011g0214 a0001c0001t0011g0223 a0001c0001t0011g0226 a0001c0001t0012g0277 a0001c0001t0013g0001 a0001c0001t0013g0048 a0001c0001t0013g0206 a0001c0001t0013g0210 a0001c0001t0014g0003 a0001c0001t0014g0016 a0001c0001t0014g0197 a0001c0001t0014g0292 a0001c0001t0015g0248 a0001c0001t0015g0249 a0001c0001t0018g0255 a0001c0001t0019g0050 a0001c0001t0019g0201 a0001c0001t0020g0049 a0001c0001t0024g0222 a0001c0001t0025g0007 a0001c0001t0026g0001 a0001c0001t0027g0016 a0001c0001t0030g0016 a0001c0001t0032g0233 a0001c0001t0033g0004 a0001c0001t0035g0291 a0001c0001t0036g0003 a0001c0001t0037g0070 a0001c0003t0002g0116 a0001c0003t0002g0151 a0001c0003t0006g0045 a0001c0003t0007g0123 a0001c0003t0021g0035 a0001c0003t0048g0152 a0001c0009t0001g0007 a0002c0002t0002g0090 a0002c0002t0002g0095 a0002c0002t0002g0103 a0002c0002t0002g0110 a0002c0002t0002g0125 a0002c0002t0010g0085 a0002c0006t0002g0066 a0002c0006t0002g0081 a0002c0006t0003g0283 a0004c0010t0001g0228 a0005c0019t0001g0005 a0006c0013t0002g0124 a0009c0015t0004g0258 a0011c0018t0001g0004	229	424	0.5401	-21	c.106 others(38): Show c.1068+606_1068+626delCGCGATAGCTTACGTGGCAGA	CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CNKSR2_chrX_21369418_21659689	21374594	GGCAGCAG others(14): Show GGCAGCAGCAGCAGCAGCAGCA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0007 a0001c0001t0043g0007	1	163	0.0061	-21	c.-28 others(30): Show c.-286_-266delAGCAGCAGCAGCAGCAGCAGC	CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding	1/22	266	INFO_REALIGN_3_PRIME	chrX	TogoVar
CNNM4_chr2_96755902_96816874	96765024	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	270	0.0037	-21	c.140 others(40): Show c.1402+2645_1402+2665delTTTTTTTTTTTTTTTTTTTTT	CNNM4	ENSG00000158158.12	transcript	ENST00000377075.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNOT3_chr19_54132762_54160681	54134157	TCTCCACC others(14): Show TCTCCACCTTCCCTCTCCCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	223	0.0045	-21	c.-38 others(32): Show c.-3886_-3866delCTCCACCTTCCCTCTCCCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3604		chr19	TogoVar
CNOT4_chr7_135356795_135515102	135472503	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0353 a0001c0001t0003g0353	1	362	0.0028	-21	c.-92 others(40): Show c.-92-34101_-92-34081delATATATATATTTTTTTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135472509	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	362	0.0028	-21	c.-92 others(40): Show c.-92-34107_-92-34087delATATATATATATATATTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135495685	AAAAAAAA others(14): Show AAAAAAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02109.hp2 HG02809.hp1 others(3): Show HG00609.hp1 HG02109.hp2 HG02809.hp1 NA18959.hp2 NA18990.hp2 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0273 others(3): Show a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0273 a0001c0001t0002g0290 a0001c0001t0002g0291 a0002c0002t0001g0052	6	362	0.0166	-21	c.-93 others(40): Show c.-93+14183_-93+14203delCTTTCTTTCTTTCTTTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT6L_chr4_77708387_77824368	77714438	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0108 a0001c0001t0047g0108	1	328	0.0031	-21	c.59 others(32): Show c.5972_*5992delTTTTTTTTTTTTTTTTTTTTT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	12/12	5972		chr4	TogoVar
CNOT6_chr5_180489379_180583358	180539551	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0192 a0001c0001t0036g0192	1	334	0.0030	-21	c.112 others(40): Show c.112+10199_112+10219delTTTTTTTTTTTTTTTTTTTTT	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNTLN_chr9_17130040_17508923	17294892	TGGGGAGT others(14): Show TGGGGAGTGGGGGGAGGGCGGG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0008 a0001c0004t0001g0008	1	218	0.0046	-21	c.984 others(38): Show c.984-3274_984-3254delGGAGTGGGGGGAGGGCGGGGG	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTN1_chr12_40687439_41077415	40795299	ACACACAC others(14): Show ACACACACACACACACACACAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(68): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01255.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02083.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02559.hp2 HG02818.hp1 HG02976.hp1 HG03139.hp2 HG03209.hp1 HG03654.hp2 HG03704.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 NA18943.hp1 NA18944.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18980.hp2 NA18988.hp1 NA18989.hp1 NA19006.hp1 NA19010.hp2 NA19011.hp1 NA19065.hp1 NA19066.hp2 NA19079.hp2 NA19083.hp1 NA19091.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0012 a0002c0007 a0003c0008 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0023 a0001c0003t0002 a0001c0003t0005 a0001c0003t0020 a0001c0006t0006 a0001c0012t0021 a0002c0007t0008 a0003c0008t0002 a0004c0011t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0101 others(68): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0101 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0223 a0001c0001t0002g0005 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0069 a0001c0001t0002g0087 a0001c0001t0002g0110 a0001c0001t0002g0146 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0003g0023 a0001c0001t0003g0084 a0001c0001t0003g0154 a0001c0001t0003g0166 a0001c0001t0003g0200 a0001c0001t0004g0086 a0001c0001t0004g0093 a0001c0001t0004g0115 a0001c0001t0026g0190 a0001c0002t0001g0013 a0001c0002t0001g0024 a0001c0002t0001g0033 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0174 a0001c0002t0001g0189 a0001c0002t0001g0194 a0001c0002t0002g0221 a0001c0002t0010g0126 a0001c0002t0023g0144 a0001c0003t0002g0108 a0001c0003t0005g0070 a0001c0003t0005g0071 a0001c0003t0005g0072 a0001c0003t0005g0104 a0001c0003t0005g0155 a0001c0003t0005g0178 a0001c0003t0020g0165 a0001c0006t0006g0015 a0001c0006t0006g0017 a0001c0006t0006g0018 a0001c0006t0006g0021 a0001c0006t0006g0051 a0001c0012t0021g0204 a0002c0007t0008g0122 a0002c0007t0008g0123 a0002c0007t0008g0186 a0002c0007t0008g0192 a0003c0008t0002g0143 a0004c0011t0001g0097	71	230	0.3087	-21	c.-77 others(42): Show c.-77+102708_-77+102728delCACACACACACACACACACAT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23			chr12	TogoVar
CNTN3_chr3_74257568_74619659	74344397	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0095 a0002c0004t0004g0095	1	174	0.0058	-21	c.136 others(40): Show c.1365-7760_1365-7740delAAAAAAAAAAAAAAAAAAAAA	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	11/22			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2287672	AGAAGAAG others(14): Show AGAAGAAGAAGAAGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01361.hp2 others(3): Show HG01256.hp1 HG01258.hp2 HG01361.hp2 HG03471.hp2 HG03831.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0005 a0001c0002t0001 a0001c0002t0004 others(2): Show a0001c0001t0005 a0001c0002t0001 a0001c0002t0004 a0001c0002t0012 a0001c0004t0002	a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0002t0001g0021 others(3): Show a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0002t0001g0021 a0001c0002t0004g0017 a0001c0002t0012g0013 a0001c0004t0002g0022	6	116	0.0517	-21	c.-14 others(42): Show c.-144-51488_-144-51468delAGAGGAAGAAGAAGAAGAAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2287690	AGAGGAAG others(14): Show AGAGGAAGAAGAAGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp2 NA18990.hp1 HG02615.hp2 HG02647.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0003 a0001c0003t0001 a0001c0010t0003 a0001c0001t0003 a0001c0003t0001 a0001c0010t0003	a0001c0001t0003g0101 a0001c0003t0001g0116 a0001c0010t0003g0011 a0001c0001t0003g0101 a0001c0003t0001g0116 a0001c0010t0003g0011	3	116	0.0259	-21	c.-14 others(42): Show c.-144-51485_-144-51465delGGAAGAAGAAGAAGAAGAGGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2287693	GGAAGAAG others(14): Show GGAAGAAGAAGAAGAAGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG04184.hp1 HG01169.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0049 a0001c0003t0003g0070 a0001c0001t0001g0049 a0001c0003t0003g0070	2	116	0.0172	-21	c.-14 others(42): Show c.-144-51467_-144-51447delGGAAGAAGAAGAAGAAGAAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2747417	AATAAAAA others(14): Show AATAAAAATAAAAATAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG02622.hp1 others(5): Show HG02258.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG03139.hp1 HG03471.hp1 HG06807.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0014 a0003c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0003 a0001c0005t0010 a0001c0007t0003 a0002c0014t0001 a0003c0008t0013	a0001c0001t0001g0059 a0001c0001t0003g0101 a0001c0001t0008g0043 others(5): Show a0001c0001t0001g0059 a0001c0001t0003g0101 a0001c0001t0008g0043 a0001c0002t0003g0114 a0001c0005t0010g0085 a0001c0007t0003g0034 a0002c0014t0001g0016 a0003c0008t0013g0109	8	116	0.0690	-21	c.358 others(38): Show c.358+1722_358+1742delTAAAAATAAAAATAAAAAATA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2886888	TATGATTA others(14): Show TATGATTAAAGTTATAATGGAG	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	116	0.0086	-21	c.756 others(36): Show c.756-149_756-129delGATTAAAGTTATAATGGAGAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	100153870	CATATAAG others(14): Show CATATAAGTTTCAAATCTGTTA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0049 a0001c0001t0016g0049	1	66	0.0152	-21	c.158 others(42): Show c.1581-37255_1581-37235delATATAAGTTTCAAATCTGTTA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	13/24			chr11	TogoVar
CNTN6_chr3_1088024_1409217	1245274	TACACACA others(14): Show TACACACACATATATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG02738.hp2 others(2): Show HG01256.hp2 HG01258.hp1 HG02738.hp2 NA18747.hp2 NA18969.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0007t0001 a0001c0007t0006 a0001c0003t0001 a0001c0007t0001 a0001c0007t0006	a0001c0003t0001g0081 a0001c0007t0001g0014 a0001c0007t0001g0015 others(2): Show a0001c0003t0001g0081 a0001c0007t0001g0014 a0001c0007t0001g0015 a0001c0007t0001g0048 a0001c0007t0006g0170	5	232	0.0216	-21	c.358 others(40): Show c.358+17283_358+17303delCACACACATATATATATAACA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146483283	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0019 a0001c0009t0019	a0001c0009t0019g0027 a0001c0009t0019g0027	1	40	0.0250	-21	c.98- others(40): Show c.98-290987_98-290967delTATATATATATATATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146721436	TCTATATA others(14): Show TCTATATATACATTCTATATAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02897.hp1 NA19030.hp1 others(1): Show HG02486.hp2 HG02897.hp1 NA19030.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0016	a0001c0001t0001 a0001c0002t0001 a0001c0003t0011 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0011 a0002c0016t0004	a0001c0001t0001g0038 a0001c0002t0001g0008 a0001c0003t0011g0023 others(1): Show a0001c0001t0001g0038 a0001c0002t0001g0008 a0001c0003t0011g0023 a0002c0016t0004g0024	4	40	0.1000	-21	c.98- others(38): Show c.98-52834_98-52814delCTATATATACATTCTATATAC	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147489376	TGTCGTTT others(14): Show TGTCGTTTAAGAACAAAAGAGG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0026 a0001c0012t0004g0026	1	40	0.0250	-21	c.177 others(40): Show c.1777+3336_1777+3356delGTCGTTTAAGAACAAAAGAGG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	11/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147629406	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0001 a0001c0001t0018g0001	1	40	0.0250	-21	c.189 others(40): Show c.1898-9677_1898-9657delATAATAATAATAATAATAATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148328492	TTCCATCT others(14): Show TTCCATCTCTTGGTGTTCAATA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp1 HG03239.hp2 others(3): Show HG02976.hp2 HG03098.hp1 HG03239.hp2 HG03540.hp2 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 a0001c0003t0004 a0001c0003t0020 a0001c0013t0003	a0001c0001t0001g0003 a0001c0001t0018g0001 a0001c0002t0002g0040 others(3): Show a0001c0001t0001g0003 a0001c0001t0018g0001 a0001c0002t0002g0040 a0001c0003t0004g0029 a0001c0003t0020g0017 a0001c0013t0003g0039	6	40	0.1500	-21	c.347 others(42): Show c.3476-55156_3476-55136delTCCATCTCTTGGTGTTCAATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148413402	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0010 a0001c0003t0013g0010	1	40	0.0250	-21	c.379 others(40): Show c.3797-2014_3797-1994delTATATATATATATATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	23/23			chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	42134355	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0030 a0004c0004t0005g0030	1	108	0.0093	-21	c.-52 others(32): Show c.-5282_-5262delGTTTCTTTCTTTCTTTCTTTC	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding		4930		chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76543166	CAACTGAC others(14): Show CAACTGACTCTCCTAAAAGTAT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03491.hp2 HG03710.hp1 others(3): Show HG02698.hp2 HG03491.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2	a0002 a0008 a0010 a0002 a0008 a0010	a0002c0005 a0008c0017 a0010c0016 a0002c0005 a0008c0017 a0010c0016	a0002c0005t0002 a0008c0017t0002 a0010c0016t0002 a0002c0005t0002 a0008c0017t0002 a0010c0016t0002	a0002c0005t0002g0070 a0002c0005t0002g0194 a0002c0005t0002g0257 others(3): Show a0002c0005t0002g0070 a0002c0005t0002g0194 a0002c0005t0002g0257 a0008c0017t0002g0068 a0010c0016t0002g0135 a0010c0016t0002g0190	6	274	0.0219	-21	c.344 others(40): Show c.3442+2379_3442+2399delCTGACTCTCCTAAAAGTATAA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124449054	GAAATCGG others(14): Show GAAATCGGGACTTATTTTTTCA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	64	0.0156	-21	c.918 others(38): Show c.918+2119_918+2139delAATCGGGACTTATTTTTTCAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124702346	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp1 HG02723.hp2 HG02145.hp2 HG02723.hp1 HG02723.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0003 a0001c0002t0007 a0002c0008t0001 a0001c0002t0003 a0001c0002t0007 a0002c0008t0001	a0001c0002t0003g0056 a0001c0002t0007g0009 a0002c0008t0001g0038 a0001c0002t0003g0056 a0001c0002t0007g0009 a0002c0008t0001g0038	3	64	0.0469	-21	c.207 others(42): Show c.2078-44853_2078-44833delTTTTTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124707140	GGAAGAAG others(14): Show GGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0028 a0001c0002t0006g0028	1	64	0.0156	-21	c.207 others(42): Show c.2078-40043_2078-40023delGAAGAAGAAGAAGAAGAAGAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COG3_chr13_45459939_45541701	45486289	TCGGGAGA others(14): Show TCGGGAGACGGGAGACGGGAGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(51): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG01070.hp2 HG01109.hp1 HG01496.hp1 HG01891.hp2 HG01975.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02132.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp2 HG02723.hp1 HG02922.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18945.hp2 NA18949.hp1 NA18955.hp1 NA18962.hp2 NA18991.hp2 NA19002.hp2 NA19011.hp2 NA19012.hp2 NA19066.hp2 NA19077.hp1 NA19082.hp1 NA19085.hp2 NA19089.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0013 a0002c0003 others(3): Show a0001c0002 a0001c0013 a0002c0003 a0002c0004 a0002c0005 a0002c0016	a0001c0002t0001 a0001c0013t0004 a0002c0003t0002 others(6): Show a0001c0002t0001 a0001c0013t0004 a0002c0003t0002 a0002c0004t0001 a0002c0005t0003 a0002c0005t0011 a0002c0005t0012 a0002c0005t0013 a0002c0016t0003	a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 others(49): Show a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0013t0004g0194 a0002c0003t0002g0005 a0002c0003t0002g0006 a0002c0003t0002g0144 a0002c0003t0002g0160 a0002c0003t0002g0161 a0002c0003t0002g0162 a0002c0003t0002g0163 a0002c0003t0002g0164 a0002c0003t0002g0165 a0002c0003t0002g0166 a0002c0003t0002g0167 a0002c0003t0002g0168 a0002c0003t0002g0169 a0002c0003t0002g0170 a0002c0003t0002g0171 a0002c0003t0002g0172 a0002c0003t0002g0173 a0002c0003t0002g0174 a0002c0003t0002g0175 a0002c0003t0002g0176 a0002c0003t0002g0177 a0002c0003t0002g0178 a0002c0003t0002g0179 a0002c0003t0002g0180 a0002c0003t0002g0181 a0002c0003t0002g0183 a0002c0003t0002g0184 a0002c0003t0002g0185 a0002c0003t0002g0186 a0002c0003t0002g0187 a0002c0003t0002g0188 a0002c0003t0002g0189 a0002c0003t0002g0190 a0002c0003t0002g0191 a0002c0003t0002g0207 a0002c0004t0001g0038 a0002c0005t0003g0010 a0002c0005t0003g0151 a0002c0005t0003g0152 a0002c0005t0003g0153 a0002c0005t0003g0157 a0002c0005t0003g0158 a0002c0005t0003g0159 a0002c0005t0003g0192 a0002c0005t0011g0150 a0002c0005t0012g0148 a0002c0005t0013g0154 a0002c0016t0003g0156	54	342	0.1579	-21	c.844 others(36): Show c.844-170_844-150delCGGGAGACGGGAGACGGGAGA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL13A1_chr10_69796906_69964144	69936157	GAAGGAAG others(14): Show GAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(49): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00609.hp1 HG00733.hp1 HG00733.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01255.hp1 HG01346.hp2 HG01496.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18969.hp2 NA18971.hp2 NA18980.hp1 NA18980.hp2 NA18986.hp2 NA19002.hp1 NA19011.hp1 NA19043.hp1 NA19062.hp1 NA19081.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0014 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0007t0003 a0001c0016t0001	a0001c0001t0001g0014 a0001c0001t0001g0044 a0001c0001t0001g0060 others(49): Show a0001c0001t0001g0014 a0001c0001t0001g0044 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0127 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0002g0004 a0001c0001t0002g0033 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0102 a0001c0001t0002g0115 a0001c0002t0001g0160 a0001c0002t0001g0169 a0001c0002t0001g0226 a0001c0002t0001g0277 a0001c0002t0001g0286 a0001c0002t0002g0154 a0001c0002t0002g0159 a0001c0002t0002g0323 a0001c0002t0004g0305 a0001c0002t0004g0311 a0001c0002t0005g0256 a0001c0002t0005g0267 a0001c0002t0014g0292 a0001c0003t0001g0018 a0001c0003t0001g0042 a0001c0003t0001g0095 a0001c0003t0001g0104 a0001c0003t0001g0125 a0001c0003t0002g0050 a0001c0004t0001g0227 a0001c0004t0001g0280 a0001c0004t0002g0284 a0001c0004t0002g0322 a0001c0004t0003g0258 a0001c0006t0001g0019 a0001c0006t0002g0059 a0001c0006t0002g0069 a0001c0007t0001g0290 a0001c0007t0003g0308 a0001c0016t0001g0049	52	324	0.1605	-21	c.177 others(38): Show c.1771-592_1771-572delGGAAGGAAGGAAGGAAAGGAA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	32/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69937286	GCCTCAGG others(14): Show GCCTCAGGGCTCTGGAGGTAGC	G G	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0032 a0001c0019t0001g0032	1	324	0.0031	-21	c.179 others(38): Show c.1798-348_1798-328delCCTCAGGGCTCTGGAGGTAGC	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	33/40			chr10	TogoVar
COL16A1_chr1_31647263_31709017	31663615	GGGACTGA others(14): Show GGGACTGAAGAGAGGGACTCTA	G G	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0203 a0001c0003t0001g0203	1	342	0.0029	-21	c.355 others(38): Show c.3556-978_3556-958delTAGAGTCCCTCTCTTCAGTCC	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding	56/70			chr1	TogoVar
COL18A1_chr21_45400165_45518720	45493078	GGCAGCTG others(14): Show GGCAGCTGTCGGGGGAGATGGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0013 a0013	a0013c0051 a0013c0051	a0013c0051t0001 a0013c0051t0001	a0013c0051t0001g0195 a0013c0051t0001g0195	1	292	0.0034	-21	c.221 others(36): Show c.2215-79_2215-59delTGTCGGGGGAGATGGAGCAGC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	24/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45494817	GGGCCAGG others(14): Show GGGCCAGGGTCTGCCCCACTAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0107 a0001c0002t0002g0107	1	292	0.0034	-21	c.238 others(36): Show c.2380-43_2380-23delGCCAGGGTCTGCCCCACTAAG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	27/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL1A1_chr17_50179101_50206631	50199698	AGCCCCAG others(14): Show AGCCCCAGGCCCCAGGCCCCAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(229): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0006 a0008 a0009 a0010	a0001c0001 a0001c0003 a0001c0007 others(10): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0012 a0001c0014 a0003c0028 a0004c0016 a0005c0024 a0006c0023 a0008c0020 a0009c0018 a0010c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0032 a0001c0001t0034 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0003t0011 a0001c0007t0013 a0001c0009t0001 a0001c0012t0001 a0001c0014t0022 a0003c0028t0001 a0004c0016t0001 a0005c0024t0001 a0006c0023t0002 a0008c0020t0001 a0009c0018t0001 a0010c0021t0006	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(114): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0127 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0266 a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0022 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0196 a0001c0001t0002g0208 a0001c0001t0002g0214 a0001c0001t0002g0222 a0001c0001t0002g0229 a0001c0001t0002g0242 a0001c0001t0002g0248 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0003g0010 a0001c0001t0003g0226 a0001c0001t0003g0243 a0001c0001t0003g0254 a0001c0001t0003g0262 a0001c0001t0004g0012 a0001c0001t0004g0050 a0001c0001t0004g0182 a0001c0001t0004g0202 a0001c0001t0005g0052 a0001c0001t0005g0227 a0001c0001t0006g0209 a0001c0001t0006g0223 a0001c0001t0006g0233 a0001c0001t0008g0204 a0001c0001t0009g0126 a0001c0001t0009g0179 a0001c0001t0009g0181 a0001c0001t0009g0184 a0001c0001t0009g0213 a0001c0001t0009g0219 a0001c0001t0009g0240 a0001c0001t0010g0212 a0001c0001t0012g0026 a0001c0001t0014g0224 a0001c0001t0014g0256 a0001c0001t0018g0207 a0001c0001t0019g0197 a0001c0001t0019g0221 a0001c0001t0020g0232 a0001c0001t0021g0249 a0001c0001t0022g0241 a0001c0001t0023g0261 a0001c0001t0028g0215 a0001c0001t0032g0244 a0001c0001t0034g0250 a0001c0001t0041g0236 a0001c0001t0042g0238 a0001c0001t0043g0128 a0001c0001t0044g0230 a0001c0001t0045g0234 a0001c0001t0046g0235 a0001c0003t0011g0049 a0001c0003t0011g0246 a0001c0007t0013g0247 a0001c0009t0001g0205 a0001c0012t0001g0187 a0001c0014t0022g0216 a0003c0028t0001g0210 a0004c0016t0001g0245 a0005c0024t0001g0253 a0006c0023t0002g0257 a0008c0020t0001g0198 a0009c0018t0001g0201 a0010c0021t0006g0193	232	448	0.5179	-21	c.298 others(34): Show c.298+34_298+54delCTGGGGCCTGGGGCCTGGGGC	COL1A1	ENSG00000108821.14	transcript	ENST00000225964.10	protein_coding	2/50			chr17	TogoVar
COL25A1_chr4_108803725_109307658	108990230	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp2 HG01167.hp1 others(2): Show HG00558.hp1 HG00735.hp2 HG01167.hp1 HG02293.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0010	a0001c0001t0002g0094 a0001c0001t0003g0016 a0001c0001t0004g0007 others(2): Show a0001c0001t0002g0094 a0001c0001t0003g0016 a0001c0001t0004g0007 a0001c0002t0001g0101 a0001c0002t0010g0030	5	130	0.0385	-21	c.439 others(40): Show c.439-15692_439-15672delATATATATATATTTTTTTTTT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	6/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101361770	AGAAAAAG others(14): Show AGAAAAAGAAAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0120 a0001c0001t0011g0120	1	174	0.0058	-21	c.-12 others(32): Show c.-1262_-1242delGAAAAAGAAAAAAAAAAAAAG	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding		1104		chr7	TogoVar
COL26A1_chr7_101357875_101564024	101366474	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0001 a0001c0002t0020g0001	1	174	0.0058	-21	c.158 others(38): Show c.158+3307_158+3327delTTTTTTTTTTTTTTTTTTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101366497	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01109.hp1 HG01243.hp2 others(17): Show HG00609.hp2 HG01109.hp1 HG01243.hp2 HG01884.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02818.hp1 HG02897.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp1 HG03516.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA19005.hp2 NA19240.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0003 others(2): Show a0001c0001 a0001c0005 a0002c0003 a0002c0004 a0003c0010	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(10): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0005t0002 a0001c0005t0005 a0001c0005t0008 a0002c0003t0001 a0002c0004t0001 a0002c0004t0030 a0003c0010t0022 a0003c0010t0027	a0001c0001t0002g0111 a0001c0001t0002g0132 a0001c0001t0008g0169 others(17): Show a0001c0001t0002g0111 a0001c0001t0002g0132 a0001c0001t0008g0169 a0001c0001t0009g0159 a0001c0001t0011g0120 a0001c0001t0014g0109 a0001c0005t0002g0160 a0001c0005t0005g0167 a0001c0005t0008g0128 a0002c0003t0001g0119 a0002c0003t0001g0130 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0004t0001g0129 a0002c0004t0001g0131 a0002c0004t0001g0168 a0002c0004t0001g0171 a0002c0004t0030g0170 a0003c0010t0022g0166 a0003c0010t0027g0172	20	174	0.1149	-21	c.158 others(38): Show c.158+3308_158+3328delTTTTTTTTTTTTTTTTTTTTA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12			chr7	TogoVar
COL26A1_chr7_101357875_101564024	101534768	GTGTGGCT others(14): Show GTGTGGCTTGGAGTCAGACATT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02647.hp2 HG01081.hp1 HG02647.hp2	a0001 a0002 a0001 a0002	a0001c0014 a0002c0006 a0001c0014 a0002c0006	a0001c0014t0009 a0002c0006t0004 a0001c0014t0009 a0002c0006t0004	a0001c0014t0009g0117 a0002c0006t0004g0044 a0001c0014t0009g0117 a0002c0006t0004g0044	2	174	0.0115	-21	c.447 others(38): Show c.447+1631_447+1651delCTTGGAGTCAGACATTTGTGG	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL27A1_chr9_114150537_114317511	114183114	TGGGGTTG others(14): Show TGGGGTTGGAGCCATGTTTGCA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG01243.hp1 HG01891.hp2	a0001 a0001	a0001c0017 a0001c0134 a0001c0017 a0001c0134	a0001c0017t0006 a0001c0134t0003 a0001c0017t0006 a0001c0134t0003	a0001c0017t0006g0200 a0001c0134t0003g0069 a0001c0017t0006g0200 a0001c0134t0003g0069	2	308	0.0065	-21	c.201 others(36): Show c.2016+41_2016+61delGGGTTGGAGCCATGTTTGCAG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	5/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL4A1_chr13_110143963_110312157	110145808	CACAAGTG others(14): Show CACAAGTGGTTTAGTACTAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(177): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011	a0001c0001 a0001c0003 a0001c0006 others(61): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0001c0019 a0001c0020 a0001c0032 a0001c0050 a0001c0051 a0001c0055 a0001c0062 a0001c0064 a0001c0065 a0001c0066 a0001c0069 a0001c0079 a0002c0002 a0002c0004 a0002c0011 a0002c0015 a0002c0018 a0002c0024 a0002c0039 a0002c0040 a0002c0044 a0002c0083 a0002c0091 a0002c0092 a0002c0102 a0002c0104 a0002c0112 a0003c0008 a0003c0009 a0003c0012 a0003c0014 a0003c0027 a0003c0041 a0003c0045 a0003c0049 a0003c0080 a0003c0084 a0003c0086 a0003c0094 a0003c0105 a0003c0107 a0003c0111 a0004c0005 a0004c0017 a0004c0021 a0004c0022 a0004c0025 a0004c0035 a0004c0053 a0004c0060 a0004c0068 a0004c0071 a0004c0077 a0005c0034 a0006c0042 a0008c0054 a0010c0095 a0011c0087	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(71): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0001c0010t0001 a0001c0013t0001 a0001c0019t0001 a0001c0020t0001 a0001c0032t0001 a0001c0050t0001 a0001c0051t0001 a0001c0055t0001 a0001c0062t0001 a0001c0064t0001 a0001c0065t0001 a0001c0066t0001 a0001c0069t0001 a0001c0079t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0015 a0002c0004t0001 a0002c0004t0002 a0002c0011t0001 a0002c0011t0014 a0002c0015t0001 a0002c0015t0002 a0002c0018t0001 a0002c0024t0002 a0002c0024t0010 a0002c0039t0002 a0002c0040t0002 a0002c0044t0002 a0002c0083t0001 a0002c0091t0001 a0002c0092t0002 a0002c0102t0001 a0002c0104t0001 a0002c0112t0002 a0003c0008t0001 a0003c0008t0002 a0003c0009t0001 a0003c0009t0002 a0003c0012t0001 a0003c0012t0002 a0003c0014t0001 a0003c0014t0002 a0003c0027t0002 a0003c0041t0002 a0003c0045t0002 a0003c0049t0001 a0003c0080t0001 a0003c0084t0002 a0003c0086t0001 a0003c0094t0002 a0003c0105t0001 a0003c0107t0001 a0003c0111t0001 a0004c0005t0001 a0004c0017t0001 a0004c0021t0001 a0004c0022t0001 a0004c0025t0001 a0004c0035t0001 a0004c0053t0001 a0004c0060t0001 a0004c0068t0001 a0004c0071t0001 a0004c0077t0001 a0005c0034t0001 a0006c0042t0002 a0008c0054t0001 a0010c0095t0002 a0011c0087t0011	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0026 others(176): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0003t0001g0014 a0001c0003t0001g0054 a0001c0003t0001g0059 a0001c0003t0001g0074 a0001c0003t0001g0088 a0001c0003t0001g0092 a0001c0003t0001g0119 a0001c0003t0001g0154 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0162 a0001c0006t0001g0008 a0001c0006t0001g0025 a0001c0006t0001g0057 a0001c0006t0001g0087 a0001c0006t0001g0138 a0001c0007t0001g0021 a0001c0007t0001g0034 a0001c0007t0001g0046 a0001c0007t0001g0065 a0001c0007t0001g0070 a0001c0007t0001g0145 a0001c0007t0001g0153 a0001c0007t0001g0167 a0001c0010t0001g0058 a0001c0010t0001g0113 a0001c0010t0001g0127 a0001c0013t0001g0030 a0001c0013t0001g0050 a0001c0019t0001g0005 a0001c0019t0001g0027 a0001c0019t0001g0168 a0001c0020t0001g0117 a0001c0032t0001g0083 a0001c0050t0001g0038 a0001c0051t0001g0114 a0001c0055t0001g0064 a0001c0062t0001g0017 a0001c0064t0001g0024 a0001c0065t0001g0023 a0001c0066t0001g0151 a0001c0069t0001g0160 a0001c0079t0001g0121 a0002c0002t0001g0175 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0272 a0002c0002t0002g0275 a0002c0002t0002g0297 a0002c0002t0002g0299 a0002c0002t0002g0301 a0002c0002t0002g0320 a0002c0002t0002g0329 a0002c0002t0015g0322 a0002c0004t0001g0204 a0002c0004t0001g0207 a0002c0004t0001g0236 a0002c0004t0001g0250 a0002c0004t0001g0256 a0002c0004t0001g0260 a0002c0004t0002g0287 a0002c0004t0002g0314 a0002c0004t0002g0323 a0002c0011t0001g0184 a0002c0011t0014g0335 a0002c0015t0001g0231 a0002c0015t0002g0317 a0002c0018t0001g0171 a0002c0018t0001g0224 a0002c0018t0001g0234 a0002c0024t0002g0276 a0002c0024t0002g0281 a0002c0024t0002g0282 a0002c0024t0010g0336 a0002c0039t0002g0271 a0002c0039t0002g0302 a0002c0040t0002g0274 a0002c0040t0002g0339 a0002c0044t0002g0321 a0002c0083t0001g0173 a0002c0091t0001g0237 a0002c0092t0002g0341 a0002c0102t0001g0172 a0002c0104t0001g0178 a0002c0112t0002g0273 a0003c0008t0001g0211 a0003c0008t0002g0285 a0003c0008t0002g0286 a0003c0009t0001g0191 a0003c0009t0001g0201 a0003c0009t0001g0203 a0003c0009t0001g0205 a0003c0009t0001g0229 a0003c0009t0001g0238 a0003c0009t0002g0334 a0003c0012t0001g0202 a0003c0012t0002g0279 a0003c0012t0002g0316 a0003c0014t0001g0212 a0003c0014t0001g0249 a0003c0014t0002g0284 a0003c0014t0002g0298 a0003c0014t0002g0319 a0003c0027t0002g0326 a0003c0027t0002g0327 a0003c0041t0002g0300 a0003c0041t0002g0303 a0003c0045t0002g0305 a0003c0049t0001g0243 a0003c0049t0001g0262 a0003c0080t0001g0208 a0003c0084t0002g0328 a0003c0086t0001g0219 a0003c0094t0002g0311 a0003c0105t0001g0235 a0003c0107t0001g0244 a0003c0111t0001g0218 a0004c0005t0001g0003 a0004c0005t0001g0031 a0004c0005t0001g0033 a0004c0005t0001g0045 a0004c0005t0001g0056 a0004c0005t0001g0075 a0004c0005t0001g0077 a0004c0005t0001g0096 a0004c0005t0001g0101 a0004c0005t0001g0115 a0004c0005t0001g0137 a0004c0005t0001g0144 a0004c0005t0001g0164 a0004c0017t0001g0004 a0004c0017t0001g0010 a0004c0017t0001g0043 a0004c0017t0001g0093 a0004c0021t0001g0028 a0004c0021t0001g0035 a0004c0021t0001g0063 a0004c0022t0001g0012 a0004c0022t0001g0048 a0004c0022t0001g0100 a0004c0022t0001g0148 a0004c0025t0001g0018 a0004c0035t0001g0067 a0004c0035t0001g0103 a0004c0053t0001g0055 a0004c0060t0001g0016 a0004c0068t0001g0136 a0004c0071t0001g0084 a0004c0077t0001g0015 a0005c0034t0001g0146 a0005c0034t0001g0165 a0006c0042t0002g0278 a0006c0042t0002g0280 a0008c0054t0001g0139 a0010c0095t0002g0283 a0011c0087t0011g0289	180	344	0.5233	-21	c.45 others(32): Show c.4534_*4554delATCTAGTACTAAACCACTTGT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding		3154		chr13	TogoVar
COL4A3_chr2_227159624_227319792	227193753	GAAGGAAG others(14): Show GAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0275 a0008c0009t0001g0275	1	344	0.0029	-21	c.87+ others(38): Show c.87+28942_87+28962delAGGAAGGAAGGAAGGAAGGAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227291572	AAAAAAAA others(14): Show AAAAAAAACAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01884.hp2 NA18950.hp2 HG01256.hp1 HG01884.hp2 NA18950.hp2	a0003 a0009 a0012 a0003 a0009 a0012	a0003c0040 a0009c0008 a0012c0017 a0003c0040 a0009c0008 a0012c0017	a0003c0040t0014 a0009c0008t0023 a0012c0017t0001 a0003c0040t0014 a0009c0008t0023 a0012c0017t0001	a0003c0040t0014g0038 a0009c0008t0023g0322 a0012c0017t0001g0112 a0003c0040t0014g0038 a0009c0008t0023g0322 a0012c0017t0001g0112	3	344	0.0087	-21	c.321 others(38): Show c.3210+694_3210+714delCAAAAAAAAAAAACAAAAAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	37/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227023503	CTTTCACA others(14): Show CTTTCACATCATTAAGACATCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp1 HG03139.hp1 others(2): Show HG02922.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0002 a0002c0019 a0004c0004 others(1): Show a0002c0002 a0002c0019 a0004c0004 a0008c0028	a0002c0002t0011 a0002c0019t0005 a0004c0004t0020 others(1): Show a0002c0002t0011 a0002c0019t0005 a0004c0004t0020 a0008c0028t0034	a0002c0002t0011g0222 a0002c0019t0005g0029 a0002c0019t0005g0166 others(2): Show a0002c0002t0011g0222 a0002c0019t0005g0029 a0002c0019t0005g0166 a0004c0004t0020g0217 a0008c0028t0034g0160	5	284	0.0176	-21	c.409 others(40): Show c.4091-1351_4091-1331delAGATGTCTTAATGATGTGAAA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	43/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134679745	AGGGGCAC others(14): Show AGGGGCACTGTGGGGCTGGTTG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp2 HG02965.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0024 a0001c0003 a0001c0024	a0001c0003t0004 a0001c0024t0001 a0001c0003t0004 a0001c0024t0001	a0001c0003t0004g0262 a0001c0024t0001g0207 a0001c0003t0004g0262 a0001c0024t0001g0207	2	272	0.0074	-21	c.110 others(40): Show c.110-11157_110-11137delTGGGGCTGGTTGGGGGCACTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar

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