Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAMKMT_chr2_44356947_44777592	44410231	G G	GTATATAT others(31): Show GTATATATATATAGTCTATAGGCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	198	0.0051	38	c.376 others(57): Show c.376+19938_376+19939insGTCTATAGGCTATATATATATATATA TATATATATATA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44688507	C C	CATATATA others(31): Show CATATATATGTGTATATATACACATACATATATATACAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0101 a0001c0001t0007g0101	1	198	0.0051	38	c.377 others(57): Show c.377-15768_377-15767insGTGTATATATACACATACATATATAT ACATATATATAT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP2_chr1_200733893_200865704	200817261	T T	TATACACA others(31): Show TATACACACATACACACATATGTGTGTGTATATACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp1 HG01169.hp1 others(2): Show HG00741.hp1 HG01167.hp1 HG01169.hp1 HG03654.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0216 a0001c0001t0001g0320 a0001c0001t0004g0015 others(2): Show a0001c0001t0001g0216 a0001c0001t0001g0320 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0019	5	366	0.0137	38	c.645 others(55): Show c.645+1628_645+1629insCACACATATGTGTGTGTATATACACACA TACACACATA	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0028 a0001c0003t0005g0028	1	58	0.0172	38	c.438 others(57): Show c.438+26678_438+26679insATATATATATATATATATATATATAT ATTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	58	0.0172	38	c.438 others(57): Show c.438+26678_438+26679insATATATATATATATATATATATATAT TTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7398193	C C	CTCTCTAT others(31): Show CTCTCTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	58	0.0172	38	c.439 others(57): Show c.439-69636_439-69635insCTCTATATATATATATATATATATAT ATATATATATAT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7515166	C C	CTCCACCT others(31): Show CTCCACCTGGGATCATCAGGCTGGTCCTCCCCGGCTCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp2 HG01884.hp2 others(7): Show HG01243.hp1 HG01496.hp2 HG01884.hp2 HG02055.hp2 HG02257.hp2 HG02630.hp1 HG03579.hp2 HG03704.hp2 NA18999.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0016 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0015 a0001c0001t0020 a0001c0002t0003 a0001c0003t0010 a0001c0016t0024 a0002c0004t0018	a0001c0001t0001g0007 a0001c0001t0002g0002 a0001c0001t0003g0048 others(7): Show a0001c0001t0001g0007 a0001c0001t0002g0002 a0001c0001t0003g0048 a0001c0001t0007g0021 a0001c0001t0015g0037 a0001c0001t0020g0049 a0001c0002t0003g0006 a0001c0003t0010g0035 a0001c0016t0024g0053 a0002c0004t0018g0015	10	58	0.1724	38	c.510 others(57): Show c.510+47300_510+47301insCCTTCCACCTGGGATCATCAGGCTGG TCCTCCCCGGCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7515166	C C	CTCCAGCT others(31): Show CTCCAGCTGGGATCATCAGGCTGGTCCTCCCCGGCTCCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG02523.hp1 others(7): Show HG00735.hp2 HG01496.hp1 HG02523.hp1 HG02647.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp1 HG03688.hp1 NA20805.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0003 a0001c0009 others(3): Show a0001c0001 a0001c0003 a0001c0009 a0001c0017 a0005c0013 a0008c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0025 a0001c0003t0001 a0001c0003t0008 a0001c0009t0019 a0001c0017t0026 a0005c0013t0009 a0008c0011t0016	a0001c0001t0002g0036 a0001c0001t0003g0022 a0001c0001t0005g0038 others(7): Show a0001c0001t0002g0036 a0001c0001t0003g0022 a0001c0001t0005g0038 a0001c0001t0025g0052 a0001c0003t0001g0004 a0001c0003t0008g0032 a0001c0009t0019g0039 a0001c0017t0026g0027 a0005c0013t0009g0033 a0008c0011t0016g0029	10	58	0.1724	38	c.510 others(57): Show c.510+47269_510+47270insGCTGGGATCATCAGGCTGGTCCTCCC CGGCTCCTTCCA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18970.hp2 NA18992.hp2 others(1): Show HG02257.hp2 NA18970.hp2 NA18992.hp2 NA19009.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0003 a0003c0002t0003 a0001c0001t0003 a0003c0002t0003	a0001c0001t0003g0090 a0001c0001t0003g0228 a0003c0002t0003g0050 others(1): Show a0001c0001t0003g0090 a0001c0001t0003g0228 a0003c0002t0003g0050 a0003c0002t0003g0051	4	380	0.0105	38	c.721 others(53): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAP2_chr6_17388595_17562780	17461992	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0204 a0001c0008t0001g0204	1	206	0.0049	38	c.223 others(53): Show c.223-973_223-972insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38743731	G G	GCCCCCAG others(31): Show GCCCCCAGCCTTCCTCCCTCAGACCCAGGAGTCCAGGTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00642.hp2 others(58): Show HG00438.hp1 HG00558.hp1 HG00642.hp2 HG01109.hp2 HG01123.hp1 HG01884.hp2 HG01952.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02132.hp1 HG02280.hp2 HG02451.hp2 HG02647.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03139.hp2 HG03453.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18947.hp1 NA18953.hp2 NA18970.hp2 NA18982.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA19000.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp2 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0004 a0005 others(7): Show a0001 a0004 a0005 a0006 a0011 a0012 a0013 a0014 a0018 a0025	a0001c0001 a0001c0003 a0001c0011 others(12): Show a0001c0001 a0001c0003 a0001c0011 a0001c0026 a0004c0008 a0005c0007 a0006c0009 a0006c0019 a0006c0029 a0011c0016 a0012c0032 a0013c0030 a0014c0031 a0018c0023 a0025c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0003t0001 a0001c0011t0003 a0001c0026t0005 a0004c0008t0003 a0004c0008t0005 a0005c0007t0003 a0006c0009t0003 a0006c0019t0003 a0006c0029t0003 a0011c0016t0005 a0012c0032t0005 a0013c0030t0007 a0014c0031t0007 a0018c0023t0001 a0025c0017t0003	a0001c0001t0001g0241 a0001c0001t0003g0005 a0001c0001t0003g0275 others(53): Show a0001c0001t0001g0241 a0001c0001t0003g0005 a0001c0001t0003g0275 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0307 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0303 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0309 a0001c0001t0007g0297 a0001c0001t0010g0276 a0001c0001t0010g0279 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0011t0003g0260 a0001c0011t0003g0261 a0001c0011t0003g0262 a0001c0026t0005g0304 a0004c0008t0003g0282 a0004c0008t0005g0288 a0005c0007t0003g0265 a0005c0007t0003g0266 a0005c0007t0003g0267 a0005c0007t0003g0268 a0005c0007t0003g0269 a0005c0007t0003g0270 a0005c0007t0003g0271 a0005c0007t0003g0272 a0006c0009t0003g0009 a0006c0009t0003g0264 a0006c0019t0003g0273 a0006c0029t0003g0308 a0011c0016t0005g0263 a0012c0032t0005g0302 a0013c0030t0007g0300 a0014c0031t0007g0301 a0018c0023t0001g0240 a0025c0017t0003g0274	61	342	0.1784	38	c.237 others(53): Show c.237+197_237+198insGACCTGGACTCCTGGGTCTGAGGGAGGAAG GCTGGGGG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	1/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38743734	C C	CCCAGCCT others(31): Show CCCAGCCTTCCTCCCTCAGACCCAGGAGTCCAGGTCCCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0244 a0001c0003t0001g0244	1	342	0.0029	38	c.237 others(53): Show c.237+194_237+195insTGGGACCTGGACTCCTGGGTCTGAGGGAGG AAGGCTGG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	1/20			chr19	TogoVar
CAPZB_chr1_19333775_19490539	19366281	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	364	0.0028	38	c.330 others(55): Show c.330-8719_330-8718insATATATATATATATATATATATATATAT ATATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366283	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp1 NA18959.hp2 others(2): Show HG02572.hp2 HG02809.hp1 NA18959.hp2 NA18994.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0182 a0001c0001t0001g0209 a0001c0001t0001g0234 others(2): Show a0001c0001t0001g0182 a0001c0001t0001g0209 a0001c0001t0001g0234 a0001c0001t0001g0301 a0001c0001t0018g0043	5	364	0.0137	38	c.330 others(55): Show c.330-8721_330-8720insATATATATATATATATATATATATATAT ATATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366307	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19005.hp1 NA19070.hp2 others(1): Show NA18955.hp2 NA19005.hp1 NA19070.hp2 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0279 a0001c0002t0003g0187 a0001c0002t0003g0188 others(1): Show a0001c0002t0002g0279 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189	4	364	0.0110	38	c.330 others(55): Show c.330-8745_330-8744insTTATTTATATATATATATATATATATAT ATATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366307	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0359 a0001c0002t0003g0359	1	364	0.0028	38	c.330 others(55): Show c.330-8745_330-8744insTTATATATATATATATATATATATATAT ATATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19416860	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	364	0.0028	38	c.93+ others(53): Show c.93+2800_93+2801insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8			chr1	TogoVar
CARM1_chr19_10866553_10928075	10901948	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	354	0.0028	38	c.221 others(55): Show c.221-3001_221-3000insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25313683	G G	GCATATAT others(31): Show GCATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0012 a0012	a0012c0026 a0012c0026	a0012c0026t0002 a0012c0026t0002	a0012c0026t0002g0070 a0012c0026t0002g0070	1	186	0.0054	38	c.138 others(57): Show c.138+28774_138+28775insCATATATATATATATATATATATATA TATATATATATA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459266	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0005 a0003c0010t0005	a0003c0010t0005g0142 a0003c0010t0005g0142	1	186	0.0054	38	c.615 others(55): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTCTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459268	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTCCTTTCTTCCTTTCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	186	0.0054	38	c.615 others(55): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTCCTTTCTTCCTTT CTTCCTTTCT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARS2_chr13_110636417_110711116	110679573	G G	GAGAAAGA others(31): Show GAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18946.hp1 NA19001.hp1 HG04204.hp1 NA18946.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0190 a0001c0002t0001g0216 a0001c0002t0002g0202 a0001c0002t0001g0190 a0001c0002t0001g0216 a0001c0002t0002g0202	3	372	0.0081	38	c.656 others(55): Show c.656-2471_656-2470insTTCTTTCTTTCTCTCTCTCTCTTTCTTT CTTTCTTTCT	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CASC3_chr17_40135537_40177171	40140357	C C	CACCAACA others(31): Show CACCAACACACACACCAACACACACACACACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	266	0.0038	38	c.-19 others(47): Show c.-192_-191insACCAACACACACACCAACACACACACACACACACCC CA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		179		chr17	TogoVar
CASK_chrX_41509934_41928554	41527192	A A	ACAGAGAG others(31): Show ACAGAGAGAGAGACAGAGAGTGAGAGAGAGGGGGAGAGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0019 a0001c0001t0025g0019	1	164	0.0061	38	c.252 others(57): Show c.2521-3196_2521-3159dupCCTCTCCCCCTCTCTCTCACTCTCTG TCTCTCTCTCTG	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	25/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41829704	T T	TATATATA others(31): Show TATATATACGTATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	164	0.0061	38	c.172 others(57): Show c.172+23410_172+23411insGTATATATATATATATATATATATAT ATACGTATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASR_chr3_122178668_122296629	122252398	G G	GGAAAAAG others(31): Show GGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0196 a0001c0001t0042g0196	1	314	0.0032	38	c.-24 others(57): Show c.-242-1547_-242-1546insAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(31): Show AGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0233 a0002c0002t0002g0233	1	314	0.0032	38	c.-24 others(57): Show c.-242-1539_-242-1538insGGAAGGAAGGAAGGAAAAAGAAAGAA AGAAAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(31): Show ACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0068 a0001c0002t0033g0068	1	228	0.0044	38	c.113 others(53): Show c.113+785_113+786insACACACACACTCTCTCTCTCTCTCTCTCTC TCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CATIP_chr2_218351857_218373094	218357259	G G	GTCTCTCT others(31): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	366	0.0027	38	c.118 others(53): Show c.118+103_118+104insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CATSPERB_chr14_91575698_91737086	91661524	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	271	0.0037	38	c.128 others(57): Show c.1288-1544_1288-1543insATATATATATATATATATATATATAT ATATATATATAT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	14/26			chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0133 a0001c0001t0001g0074 a0001c0001t0001g0133	2	336	0.0060	38	c.142 others(57): Show c.1428-1156_1428-1155insATATATATATATATATATATATATAT ATTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18940.hp1 HG02155.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0202 a0001c0001t0002g0203	2	342	0.0059	38	c.195 others(55): Show c.195+7707_195+7708insATATATATATATATATATATATATATAT TTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18940.hp2 HG02040.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0155 a0001c0001t0003g0128 a0001c0001t0001g0155 a0001c0001t0003g0128	2	342	0.0059	38	c.195 others(55): Show c.195+7707_195+7708insATATATATATATATATATATATATATTT TTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00423.hp2 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0132 a0001c0001t0003g0133	2	342	0.0059	38	c.195 others(55): Show c.195+7707_195+7708insATATATATATATATATATATATATTTTT TTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(31): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	342	0.0029	38	c.195 others(55): Show c.195+7707_195+7708insATATATATATATATATTTTTTTTTTTTT TTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCBE1_chr18_59425939_59702423	59573284	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01934.hp1 others(9): Show HG01515.hp1 HG01517.hp2 HG01934.hp1 HG02257.hp1 HG02735.hp2 HG02809.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03471.hp1 NA19010.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0016 a0001c0001t0027 a0001c0001t0030 a0001c0001t0045 a0001c0001t0063	a0001c0001t0001g0047 a0001c0001t0001g0107 a0001c0001t0004g0119 others(9): Show a0001c0001t0001g0047 a0001c0001t0001g0107 a0001c0001t0004g0119 a0001c0001t0004g0121 a0001c0001t0004g0134 a0001c0001t0006g0231 a0001c0001t0013g0041 a0001c0001t0016g0142 a0001c0001t0027g0151 a0001c0001t0030g0180 a0001c0001t0045g0133 a0001c0001t0063g0120	12	242	0.0496	38	c.213 others(57): Show c.213-93047_213-93046insATATATATATATATATATATATATAT ATATATATATAT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC102B_chr18_68793080_69060189	69009924	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	216	0.0046	38	c.126 others(55): Show c.1264-985_1264-984insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC105_chr19_15005726_15028276	15018715	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG04228.hp2 NA19080.hp1 HG01884.hp1 HG04228.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0309 a0002c0002t0001g0246 a0002c0002t0001g0253 a0001c0001t0001g0309 a0002c0002t0001g0246 a0002c0002t0001g0253	3	440	0.0068	38	c.676 others(55): Show c.676-1742_676-1741insATATATATATATATATATATATATATAT ATATATATAT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC105_chr19_15005726_15028276	15018732	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03486.hp1 NA18973.hp1 others(2): Show HG02615.hp1 HG03486.hp1 NA18973.hp1 NA19043.hp1 NA19074.hp1	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0001 a0001c0004 a0003c0003 others(1): Show a0001c0001 a0001c0004 a0003c0003 a0013c0017	a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 a0013c0017t0001	a0001c0001t0001g0129 a0001c0001t0001g0247 a0001c0004t0001g0084 others(2): Show a0001c0001t0001g0129 a0001c0001t0001g0247 a0001c0004t0001g0084 a0003c0003t0001g0144 a0013c0017t0001g0156	5	440	0.0114	38	c.676 others(55): Show c.676-1729_676-1728insTATATATATATATATATATATATATATA TATATATATT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6			chr19	TogoVar
CCDC110_chr4_185440182_185476733	185443342	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0096 a0002c0005t0001g0096	1	428	0.0023	38	c.21 others(49): Show c.2159_*2160insAAAAAAAAAAAAAATATATATATATATATATATA TATA	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		1839		chr4	TogoVar
CCDC122_chr13_43831352_43884740	43879778	T T	TGGGCGAG others(31): Show TGGGCGAGGTGGGCGAGGTGAGGCGGGGCGAGGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00735.hp2 others(33): Show HG00323.hp2 HG00408.hp2 HG00735.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG01257.hp1 HG01346.hp1 HG01981.hp2 HG02015.hp2 HG02071.hp2 HG02083.hp1 HG02155.hp2 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02735.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG04115.hp1 HG06807.hp1 NA18952.hp1 NA18968.hp1 NA18977.hp2 NA18990.hp2 NA18993.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19060.hp1 NA20129.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0008 a0004c0005t0001 a0001c0001t0001 a0001c0001t0008 a0004c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0157 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0216 a0001c0001t0008g0161 a0001c0001t0008g0168 a0004c0005t0001g0007 a0004c0005t0001g0160	36	442	0.0815	38	c.-34 others(47): Show c.-348_-347insGCCCCGCCTCGCCCCGCCTCACCTCGCCCACCTCGC CC	CCDC122	ENSG00000151773.13	transcript	ENST00000444614.8	protein_coding		39		chr13	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	354	0.0028	38	c.97- others(55): Show c.97-10734_97-10733insATATATATATATATATATTTTTTTTTTT TTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	354	0.0028	38	c.97- others(55): Show c.97-10734_97-10733insATATATATATATATATATATATTTTTTT TTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	354	0.0028	38	c.97- others(55): Show c.97-10734_97-10733insATATATATATATATATATATATATTTTT TTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC136_chr7_128786968_128827130	128796739	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02559.hp2 HG04228.hp2 HG01123.hp2 HG02559.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0205 a0001c0001t0002g0042 a0001c0001t0002g0205	3	380	0.0079	38	c.346 others(55): Show c.346+1972_346+1973insATATATATATATATATATATATATATTT TTTTTTTTTT	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC136_chr7_128786968_128827130	128796739	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18960.hp1 HG02027.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	2	380	0.0053	38	c.346 others(55): Show c.346+1972_346+1973insATATATATATATATATATATATATTTTT TTTTTTTTTT	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC13_chr3_42700756_42778253	42743600	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0294 a0003c0003t0009g0294	1	320	0.0031	38	c.826 others(53): Show c.826-544_826-543insGTGTATATATATATATATATATATATATAT ATATATAT	CCDC13	ENSG00000244607.7	transcript	ENST00000310232.11	protein_coding	7/15			chr3	TogoVar
CCDC148_chr2_158166073_158461753	158433091	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0140 a0004c0003t0004g0140	1	264	0.0038	38	c.25+ others(55): Show c.25+23323_25+23324insATATATATATATATATATATATTTTTTT TTTTTTTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158433091	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0070 a0004c0003t0004g0070	1	264	0.0038	38	c.25+ others(55): Show c.25+23323_25+23324insATATATATATATATATATATATATTTTT TTTTTTTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158433261	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	264	0.0038	38	c.25+ others(55): Show c.25+23153_25+23154insATATATATATATATATATATATATATAT ATATATATAT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar

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