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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CEP128_chr14_80491479_80946738	80729056	GGGGTGTG others(15): Show GGGGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	164	0.0061	-22	c.280 others(43): Show c.2806+13997_2806+14018delACACACACACACACACACACCC		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24						chr14	TogoVar
CEP128_chr14_80491479_80946738	80732471	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0079 a0002c0002t0003g0079	1	164	0.0061	-22	c.280 others(43): Show c.2806+10582_2806+10603delACACACACACACACACACACAC		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24						chr14	TogoVar
CEP128_chr14_80491479_80946738	80944822	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG02818.hp1 others(4): Show HG02145.hp2 HG02572.hp2 HG02818.hp1 HG02970.hp1 NA18906.hp1 NA19030.hp1 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0005 a0005c0005t0001 a0001c0001t0005 a0005c0005t0001	a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 others(4): Show a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0058 a0001c0001t0005g0059 a0005c0005t0001g0055	7	164	0.0427	-22	c.-34 others(33): Show c.-3435_-3414delTTTTTTTTTTTTTTTTTTTTTT		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding					3085		chr14	TogoVar
CEP162_chr6_84119250_84232643	84202518	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG03041.hp2 HG02615.hp1 HG02630.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0023 a0001c0001t0001g0073 a0001c0001t0001g0074	3	214	0.0140	-22	c.688 others(37): Show c.688-773_688-752delAAAAAAAAAAAAAAAAAAAAAA		CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	7/26						chr6	TogoVar
CEP290_chr12_88044016_88147088	88146613	ATATATAT others(15): Show ATATATATATATACATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0064 a0005c0006t0001g0064	1	234	0.0043	-22	c.-47 others(33): Show c.-4763_-4742delCATATATATGTATATATATATA		CEP290	ENSG00000198707.17	transcript	ENST00000552810.6	protein_coding					4526		chr12	TogoVar
CEP295_chr11_93656682_93735358	93675578	AAGTAAAA others(15): Show AAGTAAAAAGAATTTCTGCAGTC	A A	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0014 a0014	a0014c0044 a0014c0044	a0014c0044t0001 a0014c0044t0001	a0014c0044t0001g0081 a0014c0044t0001g0081	1	354	0.0028	-22	c.538 others(29): Show c.538_559delGTAAAAAGAATTTCTGCAGTCA	p.Val others(5): Show p.Val180fs	CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	6/30	657/8014	538/7806	180/2601		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP350_chr1_179949810_180119875	180085508	GTTACACA others(15): Show GTTACACACATTCTGTTTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0128 a0002c0002t0002g0128	1	248	0.0040	-22	c.628 others(41): Show c.6285+1345_6285+1366delTTTCTCTATTACACACATTCTG		CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	31/37					INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP57L1_chr6_109090507_109179418	109120912	GCACACAC others(15): Show GCACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01361.hp1 HG02735.hp2 HG01106.hp2 HG01361.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0013g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0013g0197	3	228	0.0132	-22	c.-3- others(39): Show c.-3-24282_-3-24261delCACACACACACACACACACACA		CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109142946	GCTCTCTC others(15): Show GCTCTCTCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp2 HG03130.hp1 HG02559.hp1 HG02647.hp2 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0088 a0002c0002t0079 a0002c0002t0084 a0001c0001t0088 a0002c0002t0079 a0002c0002t0084	a0001c0001t0088g0160 a0002c0002t0079g0209 a0002c0002t0084g0011 a0001c0001t0088g0160 a0002c0002t0079g0209 a0002c0002t0084g0011	3	228	0.0132	-22	c.-3- others(37): Show c.-3-2235_-3-2214delTCTCTCTCTCTCTCTCTCTCTC		CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109178673	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0029 a0001c0007t0029	a0001c0007t0029g0005 a0001c0007t0029g0005	1	228	0.0044	-22	c.15 others(35): Show c.15704_*15725delAAAAAAAAAAAAAAAAAAAAAA		CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding					4256		chr6	TogoVar
CEP83_chr12_94302698_94464867	94458208	AAAAAAAA others(15): Show AAAAAAAAAAACTACCTGTGAAT	A A	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	364	0.0028	-22	c.-15 others(41): Show c.-155+1327_-155+1348delATTCACAGGTAGTTTTTTTTTT		CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	1/16						chr12	TogoVar
CEP85L_chr6_118455772_118656591	118491194	TATACACA others(15): Show TATACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02896.hp2 HG03516.hp1 HG02818.hp1 HG02896.hp2 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0189 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0189 a0002c0002t0002g0273 a0002c0002t0002g0274	3	302	0.0099	-22	c.143 others(39): Show c.1437+470_1437+491delGTGTGTGTGTGTGTGTGTGTAT		CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	6/12						chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567233	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02630.hp1 HG02818.hp2 others(3): Show HG01981.hp2 HG02630.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp2 NA19043.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0044 a0004c0004t0006g0047 a0004c0004t0006g0049 others(3): Show a0004c0004t0006g0044 a0004c0004t0006g0047 a0004c0004t0006g0049 a0004c0004t0006g0051 a0004c0004t0006g0052 a0004c0004t0006g0053	6	302	0.0199	-22	c.233 others(37): Show c.233-939_233-918delTATATACACACACACACACACA		CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12						chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567235	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0054 a0004c0004t0006g0054	1	302	0.0033	-22	c.233 others(37): Show c.233-941_233-920delTATATATACACACACACACACA		CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12						chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567237	GTGTGTGT others(15): Show GTGTGTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02145.hp2 HG03471.hp2 others(2): Show HG00323.hp1 HG02145.hp2 HG03471.hp2 HG03834.hp1 NA18906.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0002 a0006c0006t0009 a0002c0002t0002 a0006c0006t0009	a0002c0002t0002g0201 a0002c0002t0002g0203 a0002c0002t0002g0259 others(2): Show a0002c0002t0002g0201 a0002c0002t0002g0203 a0002c0002t0002g0259 a0006c0006t0009g0291 a0006c0006t0009g0292	5	302	0.0166	-22	c.233 others(37): Show c.233-943_233-922delTATATATATACACACACACACA		CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12						chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567239	GTGTGTGT others(15): Show GTGTGTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01884.hp2 HG02615.hp1 others(4): Show HG00408.hp2 HG01884.hp2 HG02615.hp1 NA18522.hp2 NA19077.hp2 NA19084.hp1 NA19086.hp1	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0005c0005 a0006c0006 a0002c0002 a0005c0005 a0006c0006	a0002c0002t0002 a0005c0005t0008 a0006c0006t0009 a0002c0002t0002 a0005c0005t0008 a0006c0006t0009	a0002c0002t0002g0179 a0002c0002t0002g0194 a0002c0002t0002g0211 others(4): Show a0002c0002t0002g0179 a0002c0002t0002g0194 a0002c0002t0002g0211 a0002c0002t0002g0227 a0005c0005t0008g0250 a0005c0005t0008g0251 a0006c0006t0009g0246	7	302	0.0232	-22	c.233 others(37): Show c.233-945_233-924delTATATATATATACACACACACA		CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12						chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567241	GTGTGTGT others(15): Show GTGTGTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp2 HG00621.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0209 a0002c0002t0002g0257 a0002c0002t0002g0209 a0002c0002t0002g0257	2	302	0.0066	-22	c.233 others(37): Show c.233-947_233-926delTATATATATATATACACACACA		CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12						chr6	TogoVar
CERCAM_chr9_128415857_128442347	128437940	CACACACG others(15): Show CACACACGTATATACACGTATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02602.hp1 NA18939.hp1 others(10): Show HG02056.hp2 HG02602.hp1 NA18939.hp1 NA18949.hp2 NA18954.hp1 NA18989.hp2 NA18992.hp1 NA19011.hp2 NA19057.hp1 NA19058.hp1 NA19070.hp2 NA19074.hp2 NA19081.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0020 a0001c0001 a0007c0020	a0001c0001t0001 a0007c0020t0001 a0001c0001t0001 a0007c0020t0001	a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0022 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0100 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0167 a0001c0001t0001g0183 a0001c0001t0001g0212 a0007c0020t0001g0116	13	400	0.0325	-22	c.10 others(33): Show c.1093_*1114delACACACGTATATACACGTATAT		CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding					594		chr9	TogoVar
CERKL_chr2_181531672_181662105	181536785	TTATTTTA others(15): Show TTATTTTATGCTTATGATCTAGA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0019 a0001c0002t0025g0019	1	298	0.0034	-22	c.13 others(33): Show c.1377_*1398delTCTAGATCATAAGCATAAAATA		CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	13/13				1377		chr2	TogoVar
CERS3_chr15_100395395_100533950	100494210	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0004 a0002c0012t0004	a0002c0012t0004g0054 a0002c0012t0004g0054	1	362	0.0028	-22	c.174 others(39): Show c.174-3301_174-3280delATATATATATATATATATATAT		CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	3/11						chr15	TogoVar
CERS3_chr15_100395395_100533950	100494237	ATATATAT others(15): Show ATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00438.hp1 others(81): Show HG00140.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp2 HG02074.hp2 HG02257.hp1 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp2 NA18951.hp1 NA18952.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19081.hp2 NA19090.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0021 a0001c0001t0023 a0001c0001t0038 a0004c0005t0002	a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0095 others(80): Show a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0095 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0206 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0271 a0001c0001t0001g0279 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0238 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0252 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0285 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0302 a0001c0001t0004g0067 a0001c0001t0004g0290 a0001c0001t0008g0001 a0001c0001t0008g0034 a0001c0001t0008g0104 a0001c0001t0008g0113 a0001c0001t0008g0308 a0001c0001t0021g0320 a0001c0001t0021g0345 a0001c0001t0023g0301 a0001c0001t0038g0346 a0004c0005t0002g0254 a0004c0005t0002g0262 a0004c0005t0002g0293	84	362	0.2320	-22	c.174 others(39): Show c.174-3328_174-3307delAATATATATATATATATATATA		CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	3/11						chr15	TogoVar
CERS4_chr19_8204370_8267421	8229405	TTCTTTCT others(15): Show TTCTTTCTTCTTTTTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02109.hp1 HG02258.hp2 others(14): Show HG01934.hp1 HG02109.hp1 HG02258.hp2 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp1 NA18906.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0019 a0002c0003 others(5): Show a0001c0001 a0001c0019 a0002c0003 a0002c0013 a0003c0004 a0003c0007 a0003c0014 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0019t0002 a0002c0003t0001 a0002c0013t0001 a0003c0004t0001 a0003c0007t0003 a0003c0007t0009 a0003c0014t0001 a0004c0009t0007	a0001c0001t0001g0125 a0001c0001t0003g0131 a0001c0001t0017g0130 others(14): Show a0001c0001t0001g0125 a0001c0001t0003g0131 a0001c0001t0017g0130 a0001c0019t0002g0377 a0002c0003t0001g0400 a0002c0003t0001g0401 a0002c0003t0001g0405 a0002c0003t0001g0411 a0002c0013t0001g0129 a0003c0004t0001g0106 a0003c0004t0001g0132 a0003c0007t0003g0126 a0003c0007t0003g0127 a0003c0007t0003g0128 a0003c0007t0009g0387 a0003c0014t0001g0406 a0004c0009t0007g0336	17	418	0.0407	-22	c.-2+ others(39): Show c.-2+18545_-2+18566delCTTTCTTCTTTTTTCTTCTTCT		CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8251594	TTGAGGTC others(15): Show TTGAGGTCAAGAGTTCGAGACCA	T T	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	418	0.0024	-22	c.173 others(37): Show c.173+346_173+367delTGAGGTCAAGAGTTCGAGACCA		CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	3/11						chr19	TogoVar
CERS6_chr2_168451272_168780134	168552349	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02071.hp2 HG02523.hp2 others(9): Show HG00735.hp1 HG02071.hp2 HG02523.hp2 NA18945.hp1 NA18949.hp2 NA18957.hp1 NA18968.hp2 NA18984.hp2 NA19000.hp1 NA19009.hp2 NA19070.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0001c0001t0035 a0001c0001t0036	a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0154 others(9): Show a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0002g0001 a0001c0001t0002g0057 a0001c0001t0002g0131 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0026g0152 a0001c0001t0035g0156 a0001c0001t0036g0149	12	176	0.0682	-22	c.276 others(39): Show c.276+4669_276+4690delACACACACACACACACACACAC		CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168645142	TAGAGAGA others(15): Show TAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp1 HG02717.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0022 a0001c0002t0008 a0001c0002t0022	a0001c0002t0008g0070 a0001c0002t0022g0073 a0001c0002t0008g0070 a0001c0002t0022g0073	2	176	0.0114	-22	c.465 others(41): Show c.465+14127_465+14148delAGAGAGAGAGAGAGAGAGAGAG		CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168698236	GAAAAAAA others(15): Show GAAAAAAAAAAAAAAAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0121 a0001c0001t0007g0121	1	176	0.0057	-22	c.609 others(39): Show c.609+3203_609+3224delAGAAAAAAAAAAAAAAAAAAAA		CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168746775	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	176	0.0057	-22	c.846 others(41): Show c.846-18792_846-18771delTATATATATATATATATATATA		CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168746800	TATATATA others(15): Show TATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0117 a0001c0001t0005g0117	1	176	0.0057	-22	c.846 others(41): Show c.846-18790_846-18769delTATATATATATATATATATAAA		CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
CERT1_chr5_75372775_75516629	75388599	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03579.hp2 HG03688.hp2 HG02486.hp1 HG03579.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0019 a0001c0002t0020 a0001c0001t0002 a0001c0002t0019 a0001c0002t0020	a0001c0001t0002g0265 a0001c0002t0019g0006 a0001c0002t0020g0007 a0001c0001t0002g0265 a0001c0002t0019g0006 a0001c0002t0020g0007	3	336	0.0089	-22	c.128 others(39): Show c.1284+971_1284+992delATATATATATATATATATATAT		CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	12/16						chr5	TogoVar
CES4A_chr16_66983589_67015417	66997948	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02257.hp1 HG03139.hp1 HG01934.hp1 HG02257.hp1 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0104 a0002c0002t0001g0048 a0002c0002t0001g0049 a0001c0001t0001g0104 a0002c0002t0001g0048 a0002c0002t0001g0049	3	306	0.0098	-22	c.260 others(39): Show c.260+2149_260+2170delCACACACACACACACACACACA		CES4A	ENSG00000172824.17	transcript	ENST00000648724.3	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CES4A_chr16_66983589_67015417	67000497	ACACGCAC others(15): Show ACACGCACACGCACGCACATGCG	A A	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	306	0.0033	-22	c.261 others(37): Show c.261-125_261-104delACATGCGCACGCACACGCACGC		CES4A	ENSG00000172824.17	transcript	ENST00000648724.3	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CFAP141_chr1_154194085_154211333	154203172	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02040.hp1 HG02083.hp1 others(6): Show HG01167.hp2 HG02040.hp1 HG02083.hp1 HG02451.hp1 HG02622.hp1 HG02922.hp1 HG03471.hp2 NA19000.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0065 others(4): Show a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0110 a0001c0001t0001g0137 a0001c0001t0001g0154 a0002c0005t0001g0111	9	372	0.0242	-22	c.74+ others(37): Show c.74+2404_74+2425delATATATATATATATATATATAT		CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	2/3						chr1	TogoVar
CFAP144_chr1_43142904_43161396	43154062	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00597.hp1 others(1): Show HG00408.hp1 HG00438.hp1 HG00597.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	4	396	0.0101	-22	c.297 others(39): Show c.297+1148_297+1169delTATATATATATATATATATATA		CFAP144	ENSG00000186973.11	transcript	ENST00000335282.5	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP161_chr15_81129270_81154179	81133176	CATATATA others(15): Show CATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02523.hp2 HG02630.hp1 others(2): Show HG01891.hp1 HG02523.hp2 HG02630.hp1 HG03041.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0277 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0277 a0001c0001t0001g0278	5	448	0.0112	-22	c.-11 others(33): Show c.-1153_-1132delATATATATATATATATATATAT		CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding					1093		chr15	TogoVar
CFAP161_chr15_81129270_81154179	81146831	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02165.hp1 others(19): Show HG01243.hp1 HG01891.hp2 HG02165.hp1 HG02717.hp1 HG02738.hp1 HG02965.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG04199.hp1 NA18948.hp1 NA18957.hp1 NA18980.hp1 NA18980.hp2 NA18985.hp2 NA19004.hp2 NA19030.hp2 NA19067.hp2 NA19081.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0061 others(13): Show a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0001g0257 a0001c0001t0001g0271 a0001c0001t0001g0286 a0001c0001t0002g0071 a0001c0001t0002g0076 a0001c0001t0003g0012 a0001c0001t0006g0272 a0002c0002t0001g0031	22	448	0.0491	-22	c.637 others(37): Show c.637-996_637-975delATATATATATATATATATATAT		CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr15	TogoVar
CFAP20DC_chr3_58737008_59055025	58963190	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02451.hp1 HG02965.hp1 others(4): Show HG00673.hp2 HG02451.hp1 HG02965.hp1 HG03130.hp2 HG03486.hp2 NA19085.hp1 NA21309.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0002 a0003c0004 a0008c0011 a0001c0002 a0003c0004 a0008c0011	a0001c0002t0004 a0003c0004t0001 a0008c0011t0002 a0001c0002t0004 a0003c0004t0001 a0008c0011t0002	a0001c0002t0004g0041 a0003c0004t0001g0159 a0003c0004t0001g0160 others(4): Show a0001c0002t0004g0041 a0003c0004t0001g0159 a0003c0004t0001g0160 a0003c0004t0001g0161 a0003c0004t0001g0162 a0003c0004t0001g0163 a0008c0011t0002g0044	7	204	0.0343	-22	c.279 others(41): Show c.279-25450_279-25429delCACACACACACACACACACACA		CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	4/16						chr3	TogoVar
CFAP251_chr12_121913592_122008919	121928636	ACGTATAT others(15): Show ACGTATATATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(85): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01070.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02015.hp1 HG02071.hp2 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG03017.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18969.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18985.hp1 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19081.hp2 NA19082.hp2 NA19091.hp1 NA20805.hp1	a0001 a0010 a0012 a0001 a0010 a0012	a0001c0001 a0001c0021 a0010c0022 others(1): Show a0001c0001 a0001c0021 a0010c0022 a0012c0020	a0001c0001t0001 a0001c0021t0001 a0010c0022t0001 others(1): Show a0001c0001t0001 a0001c0021t0001 a0010c0022t0001 a0012c0020t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(85): Show a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0021t0001g0202 a0010c0022t0001g0115 a0012c0020t0001g0136	88	354	0.2486	-22	c.748 others(39): Show c.748-3109_748-3088delCGTATATATATATATATATACG		CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	3/21						chr12	TogoVar
CFAP251_chr12_121913592_122008919	121998432	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18971.hp1 NA18992.hp2 others(2): Show HG01261.hp1 NA18971.hp1 NA18992.hp2 NA19004.hp2 NA19070.hp2	a0007 a0016 a0007 a0016	a0007c0007 a0016c0024 a0007c0007 a0016c0024	a0007c0007t0001 a0016c0024t0001 a0007c0007t0001 a0016c0024t0001	a0007c0007t0001g0071 a0007c0007t0001g0072 a0007c0007t0001g0075 others(2): Show a0007c0007t0001g0071 a0007c0007t0001g0072 a0007c0007t0001g0075 a0007c0007t0001g0077 a0016c0024t0001g0010	5	354	0.0141	-22	c.300 others(41): Show c.3007-1249_3007-1228delATATATATATATATATATATAT		CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP299_chr4_80330730_80968750	80916252	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0038	1	96	0.0104	-22	c.477 others(41): Show c.477-28535_477-28514delATATATATATATATATATATAT		CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP300_chr11_102042437_102089554	102059281	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG04115.hp2 NA18522.hp1 NA18612.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18948.hp2 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18962.hp1 NA18969.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19240.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 a0001c0003t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(71): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0008g0188 a0001c0003t0001g0160 a0001c0003t0001g0163 a0001c0003t0001g0168 a0001c0003t0004g0159	133	346	0.3844	-22	c.268 others(37): Show c.268+346_268+367delGTGTGTGTGTGTGTGTGTGTGT		CFAP300	ENSG00000137691.13	transcript	ENST00000434758.7	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP300_chr11_102042437_102089554	102059301	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	346	0.0029	-22	c.268 others(37): Show c.268+350_268+371delGTGTGTGTGTGTGTGTGTATGT		CFAP300	ENSG00000137691.13	transcript	ENST00000434758.7	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP410_chr21_44323944_44344390	44338897	TCCGGCTC others(15): Show TCCGGCTCCGCCCTCTCCCCGCC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp2 HG00733.hp1 others(100): Show HG00609.hp2 HG00642.hp2 HG00733.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02109.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18962.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18977.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA18992.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0001 a0001c0002 a0001c0005 others(9): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010 a0002c0004 a0003c0003 a0004c0006 a0004c0008 a0004c0014 a0005c0007 a0005c0011 a0008c0015	a0001c0001t0001 a0001c0001t0015 a0001c0002t0002 others(14): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0002 a0001c0002t0007 a0001c0002t0026 a0001c0002t0029 a0001c0002t0030 a0001c0005t0031 a0001c0010t0002 a0002c0004t0002 a0003c0003t0002 a0004c0006t0003 a0004c0008t0011 a0004c0014t0027 a0005c0007t0001 a0005c0011t0025 a0008c0015t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0221 others(84): Show a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0015g0063 a0001c0002t0002g0022 a0001c0002t0002g0036 a0001c0002t0002g0043 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0249 a0001c0002t0002g0252 a0001c0002t0002g0256 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0271 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0279 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0007g0282 a0001c0002t0007g0283 a0001c0002t0007g0284 a0001c0002t0026g0254 a0001c0002t0029g0272 a0001c0002t0030g0277 a0001c0005t0031g0253 a0001c0010t0002g0227 a0001c0010t0002g0228 a0002c0004t0002g0021 a0002c0004t0002g0041 a0002c0004t0002g0042 a0002c0004t0002g0240 a0002c0004t0002g0244 a0002c0004t0002g0245 a0002c0004t0002g0246 a0002c0004t0002g0247 a0002c0004t0002g0248 a0002c0004t0002g0250 a0002c0004t0002g0251 a0002c0004t0002g0265 a0002c0004t0002g0276 a0002c0004t0002g0278 a0002c0004t0002g0280 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0047 a0003c0003t0002g0050 a0003c0003t0002g0229 a0003c0003t0002g0255 a0003c0003t0002g0257 a0003c0003t0002g0258 a0003c0003t0002g0259 a0003c0003t0002g0260 a0003c0003t0002g0261 a0003c0003t0002g0281 a0003c0003t0002g0288 a0004c0006t0003g0051 a0004c0006t0003g0269 a0004c0006t0003g0270 a0004c0008t0011g0222 a0004c0014t0027g0285 a0005c0007t0001g0220 a0005c0011t0025g0268 a0008c0015t0001g0064	103	436	0.2362	-22	c.77+ others(35): Show c.77+199_77+220delGGCGGGGAGAGGGCGGAGCCGG		CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	1/6						chr21	TogoVar
CFAP410_chr21_44323944_44344390	44338950	GCCCTCTC others(15): Show GCCCTCTCCCCGCCCCGGCTCCT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0206 a0001c0001t0005g0206	1	436	0.0023	-22	c.77+ others(35): Show c.77+146_77+167delAGGAGCCGGGGCGGGGAGAGGG		CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	1/6						chr21	TogoVar
CFAP46_chr10_132803392_132947570	132835978	CGCTCCCC others(15): Show CGCTCCCCTCCCCTTCTCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01358.hp2 HG01496.hp1 others(3): Show HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01993.hp1 HG02148.hp1 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0141 a0002c0002t0001g0163 a0002c0002t0001g0182 others(3): Show a0002c0002t0001g0141 a0002c0002t0001g0163 a0002c0002t0001g0182 a0002c0002t0001g0195 a0002c0002t0001g0203 a0002c0002t0001g0229	6	246	0.0244	-22	c.661 others(39): Show c.6613+142_6613+163delAGGGCGAGAAGGGGAGGGGAGC		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	46/57						chr10	TogoVar
CFAP47_chrX_35914734_36390317	35923906	CATGTGTA others(15): Show CATGTGTATATATGTACATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	216	0.0046	-22	c.250 others(39): Show c.250-2092_250-2071delATATATGTGTATATATGTACAT		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35924460	GGTGCACC others(15): Show GGTGCACCTATATGTGTATATAT	G G	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18960.hp1 NA18959.hp1 NA18960.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0004c0003t0001 a0001c0001t0001 a0004c0003t0001	a0001c0001t0001g0030 a0004c0003t0001g0037 a0001c0001t0001g0030 a0004c0003t0001g0037	2	216	0.0093	-22	c.250 others(39): Show c.250-1535_250-1514delTGTGCACCTATATGTGTATATA		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36243647	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01884.hp1 HG01884.hp2 others(33): Show HG01255.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0005 a0006 a0007 others(12): Show a0005 a0006 a0007 a0011 a0014 a0015 a0016 a0017 a0022 a0026 a0030 a0033 a0034 a0049 a0052	a0005c0005 a0005c0015 a0006c0008 others(19): Show a0005c0005 a0005c0015 a0006c0008 a0006c0028 a0006c0048 a0007c0006 a0007c0077 a0011c0030 a0011c0076 a0014c0016 a0015c0018 a0015c0073 a0016c0052 a0017c0020 a0017c0063 a0022c0078 a0026c0069 a0030c0033 a0033c0036 a0034c0037 a0049c0058 a0052c0060	a0005c0005t0001 a0005c0015t0001 a0006c0008t0001 others(19): Show a0005c0005t0001 a0005c0015t0001 a0006c0008t0001 a0006c0028t0001 a0006c0048t0001 a0007c0006t0001 a0007c0077t0001 a0011c0030t0001 a0011c0076t0001 a0014c0016t0001 a0015c0018t0001 a0015c0073t0004 a0016c0052t0001 a0017c0020t0001 a0017c0063t0001 a0022c0078t0003 a0026c0069t0001 a0030c0033t0001 a0033c0036t0001 a0034c0037t0001 a0049c0058t0001 a0052c0060t0001	a0005c0005t0001g0006 a0005c0005t0001g0008 a0005c0005t0001g0009 others(33): Show a0005c0005t0001g0006 a0005c0005t0001g0008 a0005c0005t0001g0009 a0005c0005t0001g0012 a0005c0005t0001g0013 a0005c0005t0001g0190 a0005c0015t0001g0199 a0006c0008t0001g0188 a0006c0008t0001g0189 a0006c0028t0001g0186 a0006c0048t0001g0001 a0007c0006t0001g0178 a0007c0006t0001g0179 a0007c0006t0001g0180 a0007c0006t0001g0181 a0007c0006t0001g0203 a0007c0006t0001g0206 a0007c0077t0001g0140 a0011c0030t0001g0185 a0011c0076t0001g0141 a0014c0016t0001g0193 a0014c0016t0001g0200 a0015c0018t0001g0007 a0015c0018t0001g0192 a0015c0073t0004g0137 a0016c0052t0001g0017 a0017c0020t0001g0211 a0017c0020t0001g0212 a0017c0063t0001g0213 a0022c0078t0003g0134 a0026c0069t0001g0147 a0030c0033t0001g0016 a0033c0036t0001g0010 a0034c0037t0001g0014 a0049c0058t0001g0207 a0052c0060t0001g0208	36	216	0.1667	-22	c.733 others(41): Show c.7332+6808_7332+6829delATATATATATATATATATATAT		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	48/63					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36336244	GACACACA others(15): Show GACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	216	0.0046	-22	c.844 others(43): Show c.8444-11850_8444-11829delACACACACACACACACACACAC		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	57/63					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36364901	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp2 HG02809.hp2 others(2): Show HG01891.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 NA19240.hp1	a0007 a0022 a0033 others(1): Show a0007 a0022 a0033 a0050	a0007c0006 a0007c0077 a0022c0078 others(2): Show a0007c0006 a0007c0077 a0022c0078 a0033c0036 a0050c0062	a0007c0006t0001 a0007c0077t0001 a0022c0078t0003 others(2): Show a0007c0006t0001 a0007c0077t0001 a0022c0078t0003 a0033c0036t0001 a0050c0062t0001	a0007c0006t0001g0206 a0007c0077t0001g0140 a0022c0078t0003g0134 others(2): Show a0007c0006t0001g0206 a0007c0077t0001g0140 a0022c0078t0003g0134 a0033c0036t0001g0010 a0050c0062t0001g0216	5	216	0.0232	-22	c.902 others(41): Show c.9024-2043_9024-2022delTATATATATATATATATATATA		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	61/63					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP54_chr12_96484577_96880555	96512301	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0137 a0002c0007t0001g0137	1	268	0.0037	-22	c.740 others(37): Show c.740-657_740-636delATATATATATATATATATATAT		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	4/67					INFO_REALIGN_3_PRIME	chr12	TogoVar

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