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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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	chr	external
COL6A5_chr3_130340672_130489846	130345743	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01346.hp2 HG01361.hp1 HG01433.hp2 others(2): Show HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01943.hp1 HG01978.hp1	a0008 a0010 a0015 a0008 a0010 a0015	a0008c0026 a0010c0007 a0015c0015 a0008c0026 a0010c0007 a0015c0015	a0008c0026t0009 a0010c0007t0009 a0015c0015t0009 a0008c0026t0009 a0010c0007t0009 a0015c0015t0009	a0008c0026t0009g0164 a0008c0026t0009g0165 a0010c0007t0009g0162 others(2): Show a0008c0026t0009g0164 a0008c0026t0009g0165 a0010c0007t0009g0162 a0010c0007t0009g0166 a0015c0015t0009g0168	5	292	0.0171	c.-26 others(4): Show c.-267C>T	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/41	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130345820	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00140.hp2 HG01361.hp2 HG02738.hp1 others(1): Show HG00140.hp2 HG01361.hp2 HG02738.hp1 HG03834.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0010 a0013c0016t0010	a0013c0016t0010g0013 a0013c0016t0010g0014 a0013c0016t0010g0015 others(1): Show a0013c0016t0010g0013 a0013c0016t0010g0014 a0013c0016t0010g0015 a0013c0016t0010g0016	4	292	0.0137	c.-19 others(4): Show c.-190G>T	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/41	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130345877	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01981.hp2 HG03225.hp2 HG03579.hp2 HG01981.hp2 HG03225.hp2 HG03579.hp2	a0020 a0054 a0020 a0054	a0020c0023 a0054c0091 a0020c0023 a0054c0091	a0020c0023t0012 a0054c0091t0015 a0020c0023t0012 a0054c0091t0015	a0020c0023t0012g0029 a0020c0023t0012g0030 a0054c0091t0015g0031 a0020c0023t0012g0029 a0020c0023t0012g0030 a0054c0091t0015g0031	3	292	0.0103	c.-13 others(4): Show c.-133C>T	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/41	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130517293	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0072 a0007c0072	a0007c0072t0020 a0007c0072t0020	a0007c0072t0020g0190 a0007c0072t0020g0190	1	264	0.0038	c.-13 others(4): Show c.-136C>T	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/37	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130517314	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03834.hp2 HG03834.hp2	a0005 a0005	a0005c0059 a0005c0059	a0005c0059t0030 a0005c0059t0030	a0005c0059t0030g0221 a0005c0059t0030g0221	1	264	0.0038	c.-11 others(4): Show c.-115C>T	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/37	chr3	TogoVar
COL7A1_chr3_48559073_48600329	48595323	A A	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00323.hp2 HG01069.hp1 HG01071.hp2 HG00323.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	3	236	0.0127	c.-57 others(3): Show c.-57T>G	COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding	1/119	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99744988	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0015 a0001c0001t0033g0015	1	262	0.0038	c.-37 others(3): Show c.-37T>C	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/4	chr3	TogoVar
COMMD5_chr8_144845176_144858048	144852878	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0020 a0001c0001t0008g0020	1	428	0.0023	c.-97 others(3): Show c.-97C>G	COMMD5	ENSG00000170619.10	transcript	ENST00000305103.4	protein_coding	1/2	chr8	TogoVar
COMMD5_chr8_144845176_144858048	144852887	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00408.hp1 HG00423.hp2 HG00438.hp2 others(70): Show HG00408.hp1 HG00423.hp2 HG00438.hp2 HG01433.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG02004.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02293.hp2 HG02809.hp2 HG03139.hp1 HG03471.hp1 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19004.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0007t0005	a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0023 others(4): Show a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0023 a0001c0001t0005g0025 a0001c0001t0009g0021 a0001c0001t0010g0022 a0001c0007t0005g0024	73	428	0.1706	c.-10 others(4): Show c.-106C>G	COMMD5	ENSG00000170619.10	transcript	ENST00000305103.4	protein_coding	1/2	chr8	TogoVar
COMMD6_chr13_75520214_75542841	75537813	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0141 a0001c0001t0013g0141	1	396	0.0025	c.-8C others(2): Show c.-8C>T	COMMD6	ENSG00000188243.14	transcript	ENST00000682242.1	protein_coding	1/4	chr13	TogoVar
COP1_chr1_175939831_176212286	176207086	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0267 a0001c0002t0011g0267	1	300	0.0033	c.-10 others(4): Show c.-108C>T	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	1/20	chr1	TogoVar
COP1_chr1_175939831_176212286	176207137	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0268 a0001c0006t0012g0268	1	300	0.0033	c.-15 others(4): Show c.-159C>T	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	1/20	chr1	TogoVar
COPB1_chr11_14452512_14504811	14499806	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02572.hp1 HG03209.hp1 HG03453.hp1 HG02572.hp1 HG03209.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106	3	386	0.0078	c.-15 others(4): Show c.-157C>T	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	1/22	chr11	TogoVar
COPRS_chr17_31846871_31864244	31859207	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18990.hp1 NA19009.hp2 NA18990.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0103 a0001c0001t0003g0104	2	372	0.0054	c.-8C others(2): Show c.-8C>T	COPRS	ENSG00000172301.11	transcript	ENST00000302362.11	protein_coding	1/4	chr17	TogoVar
COPRS_chr17_31846871_31864244	31859214	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00642.hp2 HG01069.hp1 HG01106.hp2 others(5): Show HG00642.hp2 HG01069.hp1 HG01106.hp2 HG01433.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0031 a0001c0001t0002g0105 others(1): Show a0001c0001t0002g0015 a0001c0001t0002g0031 a0001c0001t0002g0105 a0001c0001t0002g0106	8	372	0.0215	c.-15 others(3): Show c.-15C>T	COPRS	ENSG00000172301.11	transcript	ENST00000302362.11	protein_coding	1/4	chr17	TogoVar
COPS7A_chr12_6719046_6736865	6724047	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0001	1	474	0.0021	c.-17 others(4): Show c.-176G>C	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding	1/8	chr12	TogoVar
COPS7A_chr12_6719046_6736865	6724152	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0046 a0001c0001t0018g0046	1	474	0.0021	c.-71 others(3): Show c.-71G>T	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding	1/8	chr12	TogoVar
CORO2A_chr9_98115975_98197637	98192633	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00642.hp2 HG00673.hp2 HG00741.hp2 others(29): Show HG00642.hp2 HG00673.hp2 HG00741.hp2 HG01192.hp1 HG01255.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG03486.hp2 NA18612.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18956.hp2 NA18959.hp2 NA18975.hp2 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp2 NA19080.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0004c0009	a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 others(9): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0003t0014 a0001c0003t0051 a0001c0004t0049 a0004c0009t0006	a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0006g0309 others(29): Show a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0310 a0001c0001t0006g0311 a0001c0001t0006g0312 a0001c0001t0006g0315 a0001c0001t0006g0317 a0001c0001t0006g0319 a0001c0001t0006g0322 a0001c0001t0006g0329 a0001c0001t0006g0330 a0001c0001t0006g0331 a0001c0001t0006g0332 a0001c0001t0006g0333 a0001c0001t0006g0335 a0001c0001t0014g0314 a0001c0001t0014g0325 a0001c0001t0015g0320 a0001c0001t0015g0326 a0001c0001t0015g0328 a0001c0001t0018g0323 a0001c0001t0018g0324 a0001c0001t0019g0321 a0001c0001t0019g0338 a0001c0001t0047g0313 a0001c0001t0048g0334 a0001c0001t0050g0337 a0001c0003t0014g0327 a0001c0003t0051g0318 a0001c0004t0049g0316 a0004c0009t0006g0336	32	342	0.0936	c.-75 others(3): Show c.-75C>T	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	1/12	chr9	TogoVar
COX15_chr10_99705868_99737127	99732072	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02258.hp2 HG02818.hp1 NA19240.hp1 HG02258.hp2 HG02818.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0028 a0001c0001t0013 a0001c0001t0028	a0001c0001t0013g0149 a0001c0001t0013g0150 a0001c0001t0028g0151 a0001c0001t0013g0149 a0001c0001t0013g0150 a0001c0001t0028g0151	3	422	0.0071	c.-23 others(3): Show c.-23G>T	COX15	ENSG00000014919.13	transcript	ENST00000016171.6	protein_coding	1/9	chr10	TogoVar
COX18_chr4_73047362_73074716	73069661	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0237 a0001c0002t0034g0237	1	384	0.0026	c.-12 others(3): Show c.-12C>T	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	1/6	chr4	TogoVar
COX4I1_chr16_85794695_85812068	85799708	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01081.hp2 HG02895.hp2 HG01081.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0056 a0001c0001t0002g0057	2	432	0.0046	c.-46 others(3): Show c.-46G>T	COX4I1	ENSG00000131143.10	transcript	ENST00000253452.8	protein_coding	1/5	chr16	TogoVar
COX6C_chr8_99872865_99898707	99892049	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00408.hp1 HG00558.hp1 HG00639.hp2 others(89): Show HG00408.hp1 HG00558.hp1 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01175.hp2 HG01243.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18943.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18992.hp2 NA18998.hp1 NA19001.hp1 NA19010.hp1 NA19057.hp1 NA19058.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19076.hp1 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0002 a0001c0002t0003	a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0002t0002g0005 others(42): Show a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0021 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0131 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0003g0011 a0001c0002t0003g0125	92	356	0.2584	c.-28 others(3): Show c.-28A>G	COX6C	ENSG00000164919.11	transcript	ENST00000520468.7	protein_coding	2/4	chr8	TogoVar
COX6C_chr8_99872865_99898707	99893684	T T	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0142 a0001c0001t0008g0142	1	356	0.0028	c.-77 others(3): Show c.-77A>T	COX6C	ENSG00000164919.11	transcript	ENST00000520468.7	protein_coding	1/4	chr8	TogoVar
CPAMD8_chr19_16887951_17031810	17026805	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00735.hp1 HG00735.hp1	a0015 a0015	a0015c0008 a0015c0008	a0015c0008t0004 a0015c0008t0004	a0015c0008t0004g0278 a0015c0008t0004g0278	1	278	0.0036	c.-16 others(4): Show c.-163G>T	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	1/42	chr19	TogoVar
CPEB2_chr4_14997481_15075151	15002594	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02818.hp1 HG03130.hp1 HG03139.hp1 others(2): Show HG02818.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 NA20129.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0009 a0007c0013t0009	a0007c0013t0009g0086 a0007c0013t0009g0087 a0007c0013t0009g0088 others(2): Show a0007c0013t0009g0086 a0007c0013t0009g0087 a0007c0013t0009g0088 a0007c0013t0009g0089 a0007c0013t0009g0090	5	288	0.0174	c.-80 others(3): Show c.-80C>T	CPEB2	ENSG00000137449.17	transcript	ENST00000538197.7	protein_coding	1/12	chr4	TogoVar
CPEB4_chr5_173883349_173966980	173888863	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01074.hp1 HG01081.hp1 HG01109.hp2 others(21): Show HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01433.hp2 HG01517.hp1 HG01943.hp1 HG02015.hp1 HG02109.hp2 HG02135.hp1 HG02559.hp2 HG02886.hp2 HG02970.hp2 HG03195.hp2 HG03239.hp2 NA18951.hp2 NA18975.hp2 NA18981.hp2 NA18986.hp1 NA19001.hp1 NA19005.hp2 NA19062.hp2 NA19080.hp1 NA19086.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0019 a0001c0001t0047 others(4): Show a0001c0001t0007 a0001c0001t0019 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051	a0001c0001t0007g0006 a0001c0001t0007g0024 a0001c0001t0007g0025 others(19): Show a0001c0001t0007g0006 a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0167 a0001c0001t0007g0169 a0001c0001t0007g0170 a0001c0001t0007g0171 a0001c0001t0007g0173 a0001c0001t0007g0174 a0001c0001t0007g0175 a0001c0001t0007g0176 a0001c0001t0007g0178 a0001c0001t0007g0179 a0001c0001t0007g0211 a0001c0001t0007g0212 a0001c0001t0019g0039 a0001c0001t0019g0040 a0001c0001t0047g0172 a0001c0001t0048g0006 a0001c0001t0049g0267 a0001c0001t0050g0006 a0001c0001t0051g0216	24	372	0.0645	c.-87 others(4): Show c.-871C>G	CPEB4	ENSG00000113742.14	transcript	ENST00000265085.10	protein_coding	1/10	chr5	TogoVar
CPEB4_chr5_173883349_173966980	173889501	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0189 a0001c0001t0021g0189	1	372	0.0027	c.-23 others(4): Show c.-233T>C	CPEB4	ENSG00000113742.14	transcript	ENST00000265085.10	protein_coding	1/10	chr5	TogoVar
CPLX1_chr4_779957_831129	824572	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18998.hp1 NA19002.hp1 NA18998.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0181 a0001c0001t0014g0182 a0001c0001t0014g0181 a0001c0001t0014g0182	2	416	0.0048	c.-50 others(3): Show c.-50G>C	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding	2/4	chr4	TogoVar
CPLX4_chr18_59290402_59323649	59318497	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp1 HG00741.hp1 HG01255.hp1 others(9): Show HG00099.hp1 HG00741.hp1 HG01255.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG02280.hp2 HG02683.hp2 HG02809.hp2 HG03491.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0015 a0001c0001t0022 a0001c0001t0013 a0001c0001t0015 a0001c0001t0022	a0001c0001t0013g0023 a0001c0001t0013g0054 a0001c0001t0013g0261 others(3): Show a0001c0001t0013g0023 a0001c0001t0013g0054 a0001c0001t0013g0261 a0001c0001t0015g0024 a0001c0001t0015g0262 a0001c0001t0022g0053	12	418	0.0287	c.-35 others(3): Show c.-35C>T	CPLX4	ENSG00000166569.8	transcript	ENST00000299721.3	protein_coding	1/3	chr18	TogoVar
CPNE4_chr3_131528569_132040014	132034596	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02559.hp2 NA18939.hp1 NA18966.hp2 HG02559.hp2 NA18939.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0014 a0001c0001t0008 a0001c0002t0014	a0001c0001t0008g0064 a0001c0001t0008g0066 a0001c0002t0014g0065 a0001c0001t0008g0064 a0001c0001t0008g0066 a0001c0002t0014g0065	3	94	0.0319	c.-31 others(3): Show c.-31C>G	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/16	chr3	TogoVar
CPOX_chr3_98574446_98598611	98593577	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02976.hp2 HG02976.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0026 a0004c0005t0026	a0004c0005t0026g0162 a0004c0005t0026g0162	1	448	0.0022	c.-73 others(3): Show c.-73C>T	CPOX	ENSG00000080819.9	transcript	ENST00000647941.2	protein_coding	1/7	chr3	TogoVar
CPS1_chr2_210551599_210684107	210556705	T T	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01168.hp1 HG01261.hp1 HG03831.hp2 HG01168.hp1 HG01261.hp1 HG03831.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0015 a0001c0001 a0008c0015	a0001c0001t0018 a0001c0001t0019 a0008c0015t0020 a0001c0001t0018 a0001c0001t0019 a0008c0015t0020	a0001c0001t0018g0053 a0001c0001t0019g0049 a0008c0015t0020g0048 a0001c0001t0018g0053 a0001c0001t0019g0049 a0008c0015t0020g0048	3	340	0.0088	c.-29 others(3): Show c.-29T>G	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	1/38	chr2	TogoVar
CPSF2_chr14_92116969_92177145	92121972	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0168 a0001c0001t0168	a0001c0001t0168g0087 a0001c0001t0168g0087	1	388	0.0026	c.-25 others(4): Show c.-250A>G	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding	1/16	chr14	TogoVar
CPT1A_chr11_68749883_68846916	68815480	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0143 a0001c0001t0036g0143	1	236	0.0042	c.-6C others(2): Show c.-6C>G	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	2/19	chr11	TogoVar
CPT1A_chr11_68749883_68846916	68841801	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0233 a0001c0001t0042g0233	1	236	0.0042	c.-40 others(3): Show c.-40C>T	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/19	chr11	TogoVar
CPT1A_chr11_68749883_68846916	68841847	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0043 a0001c0003t0043	a0001c0003t0043g0234 a0001c0003t0043g0234	1	236	0.0042	c.-86 others(3): Show c.-86C>T	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/19	chr11	TogoVar
CPTP_chr1_1319802_1333896	1326896	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01099.hp1 HG02258.hp2 HG02895.hp1 others(4): Show HG01099.hp1 HG02258.hp2 HG02895.hp1 HG03209.hp1 HG03225.hp2 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0027 a0001c0001t0030 a0001c0001t0008 a0001c0001t0027 a0001c0001t0030	a0001c0001t0008g0005 a0001c0001t0008g0009 a0001c0001t0008g0017 others(2): Show a0001c0001t0008g0005 a0001c0001t0008g0009 a0001c0001t0008g0017 a0001c0001t0027g0005 a0001c0001t0030g0005	7	378	0.0185	c.-15 others(3): Show c.-15C>T	CPTP	ENSG00000224051.7	transcript	ENST00000343938.9	protein_coding	2/3	chr1	TogoVar
CPVL_chr7_28990235_29151537	29146452	T T	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0282 a0001c0004t0008g0282	1	282	0.0036	c.-34 others(3): Show c.-34A>T	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	1/13	chr7	TogoVar
CR2_chr1_207449328_207494892	207454348	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(55): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00642.hp2 HG01109.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp2 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02723.hp1 HG02895.hp2 HG03017.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03831.hp2 HG04199.hp1 NA18522.hp2 NA18943.hp1 NA18947.hp2 NA18959.hp2 NA18966.hp2 NA18977.hp2 NA18980.hp2 NA18984.hp1 NA18987.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp2 NA19058.hp2 NA19064.hp1 NA19066.hp2 NA19077.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1	a0002 a0005 a0009 others(1): Show a0002 a0005 a0009 a0018	a0002c0002 a0002c0013 a0005c0010 others(2): Show a0002c0002 a0002c0013 a0005c0010 a0009c0015 a0018c0022	a0002c0002t0002 a0002c0013t0002 a0005c0010t0002 others(2): Show a0002c0002t0002 a0002c0013t0002 a0005c0010t0002 a0009c0015t0002 a0018c0022t0002	a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0002g0008 others(34): Show a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0002g0008 a0002c0002t0002g0012 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0013t0002g0005 a0005c0010t0002g0001 a0005c0010t0002g0012 a0005c0010t0002g0249 a0009c0015t0002g0005 a0009c0015t0002g0251 a0018c0022t0002g0005	58	378	0.1534	c.-71 others(3): Show c.-71T>C	CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	1/20	chr1	TogoVar
CRACD_chr4_56044098_56335609	56049189	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03942.hp2 HG03942.hp2	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0036 a0017c0024t0036	a0017c0024t0036g0204 a0017c0024t0036g0204	1	250	0.0040	c.-44 others(4): Show c.-446C>T	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	1/11	chr4	TogoVar
CRACD_chr4_56044098_56335609	56272462	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0032 a0002c0003t0032	a0002c0003t0032g0194 a0002c0003t0032g0194	1	250	0.0040	c.-47 others(3): Show c.-47C>T	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	3/11	chr4	TogoVar
CRACR2A_chr12_3610328_3758109	3733017	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01106.hp2 HG02004.hp1 HG02293.hp1 others(1): Show HG01106.hp2 HG02004.hp1 HG02293.hp1 HG02486.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0033 others(1): Show a0001c0001 a0002c0002 a0002c0033 a0005c0005	a0001c0001t0005 a0002c0002t0005 a0002c0033t0006 others(1): Show a0001c0001t0005 a0002c0002t0005 a0002c0033t0006 a0005c0005t0005	a0001c0001t0005g0205 a0002c0002t0005g0262 a0002c0033t0006g0007 others(1): Show a0001c0001t0005g0205 a0002c0002t0005g0262 a0002c0033t0006g0007 a0005c0005t0005g0261	4	320	0.0125	c.-19 others(4): Show c.-193G>A	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	2/20	chr12	TogoVar
CRACR2B_chr11_822919_836986	828050	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp2 HG02145.hp2 HG02886.hp2 HG00099.hp2 HG02145.hp2 HG02886.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0012 a0005c0004t0012 a0001c0001t0012 a0005c0004t0012	a0001c0001t0012g0001 a0005c0004t0012g0021 a0001c0001t0012g0001 a0005c0004t0012g0021	3	448	0.0067	c.-55 others(4): Show c.-558C>T	CRACR2B	ENSG00000177685.17	transcript	ENST00000525077.2	protein_coding	1/9	chr11	TogoVar
CRACR2B_chr11_822919_836986	828445	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02895.hp1 HG02897.hp1 HG03139.hp2 HG02895.hp1 HG02897.hp1 HG03139.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0011 a0001c0001 a0012c0011	a0001c0001t0018 a0012c0011t0023 a0001c0001t0018 a0012c0011t0023	a0001c0001t0018g0001 a0012c0011t0023g0012 a0001c0001t0018g0001 a0012c0011t0023g0012	3	448	0.0067	c.-16 others(4): Show c.-163C>T	CRACR2B	ENSG00000177685.17	transcript	ENST00000525077.2	protein_coding	1/9	chr11	TogoVar
CRAMP1_chr16_1607360_1682908	1612416	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0035 a0002c0006t0035	a0002c0006t0035g0287 a0002c0006t0035g0287	1	332	0.0030	c.-24 others(4): Show c.-243C>T	CRAMP1	ENSG00000007545.16	transcript	ENST00000397412.8	protein_coding	1/21	chr16	TogoVar
CRAMP1_chr16_1607360_1682908	1612440	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0009 a0001c0003t0034g0009	1	332	0.0030	c.-21 others(4): Show c.-219C>T	CRAMP1	ENSG00000007545.16	transcript	ENST00000397412.8	protein_coding	1/21	chr16	TogoVar
CRAT_chr9_129089794_129115793	129110696	A A	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(415): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.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.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(12): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0015 a0002c0003 a0003c0006 a0003c0016 a0005c0014 a0006c0013 a0007c0012 a0008c0011 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0002t0002 a0001c0002t0004 a0001c0002t0010 a0001c0004t0003 a0001c0005t0001 a0001c0007t0006 a0001c0010t0002 a0001c0015t0004 a0002c0003t0002 a0002c0003t0009 a0003c0006t0001 a0003c0016t0001 a0005c0014t0002 a0006c0013t0001 a0007c0012t0001 a0008c0011t0001 a0009c0009t0011	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(154): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0081 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0004g0038 a0001c0001t0004g0155 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0007g0065 a0001c0001t0007g0087 a0001c0001t0012g0158 a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0082 a0001c0002t0004g0098 a0001c0002t0004g0154 a0001c0002t0010g0092 a0001c0004t0003g0015 a0001c0004t0003g0020 a0001c0004t0003g0021 a0001c0004t0003g0149 a0001c0004t0003g0150 a0001c0004t0003g0151 a0001c0004t0003g0152 a0001c0005t0001g0006 a0001c0005t0001g0130 a0001c0005t0001g0131 a0001c0005t0001g0132 a0001c0007t0006g0029 a0001c0010t0002g0054 a0001c0015t0004g0148 a0002c0003t0002g0011 a0002c0003t0002g0013 a0002c0003t0002g0014 a0002c0003t0002g0059 a0002c0003t0002g0083 a0002c0003t0002g0086 a0002c0003t0009g0085 a0003c0006t0001g0019 a0003c0016t0001g0116 a0005c0014t0002g0084 a0006c0013t0001g0110 a0007c0012t0001g0108 a0008c0011t0001g0109 a0009c0009t0011g0096	418	420	0.9952	c.-18 others(4): Show c.-187T>G	CRAT	ENSG00000095321.18	transcript	ENST00000318080.7	protein_coding	1/14	chr9	TogoVar
CRCT1_chr1_152509482_152521008	152514513	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01433.hp1 HG01891.hp2 HG02109.hp1 others(18): Show HG01433.hp1 HG01891.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG06807.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0007 a0001c0004t0003 a0001c0002t0007 a0001c0004t0003	a0001c0002t0007g0002 a0001c0004t0003g0003 a0001c0002t0007g0002 a0001c0004t0003g0003	21	432	0.0486	c.-62 others(3): Show c.-62T>C	CRCT1	ENSG00000169509.6	transcript	ENST00000368790.4	protein_coding	1/2	chr1	TogoVar
CREBBP_chr16_3720054_3885713	3879931	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0247 a0001c0001t0046g0247	1	286	0.0035	c.-15 others(3): Show c.-15C>G	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	1/31	chr16	TogoVar
CREG2_chr2_101340550_101392503	101387500	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp2 HG00140.hp2 HG00621.hp2 others(58): Show HG00099.hp2 HG00140.hp2 HG00621.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01123.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG02074.hp2 HG02080.hp1 HG02258.hp1 HG02523.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02965.hp1 HG03017.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03654.hp2 HG03704.hp1 HG04184.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18949.hp2 NA18955.hp1 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18972.hp2 NA18986.hp2 NA18988.hp2 NA18992.hp2 NA18995.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19055.hp1 NA19066.hp2 NA19068.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp2 NA19082.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0022 a0001c0001t0030 others(8): Show a0001c0001t0003 a0001c0001t0022 a0001c0001t0030 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0063 a0002c0002t0062	a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0006 others(35): Show a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0048 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0266 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0022g0047 a0001c0001t0022g0267 a0001c0001t0030g0049 a0001c0001t0056g0278 a0001c0001t0057g0268 a0001c0001t0058g0286 a0001c0001t0059g0282 a0001c0001t0060g0265 a0001c0001t0061g0277 a0001c0001t0063g0287 a0002c0002t0062g0256	61	388	0.1572	c.-43 others(3): Show c.-43A>G	CREG2	ENSG00000175874.10	transcript	ENST00000324768.6	protein_coding	1/4	chr2	TogoVar

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